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 PRSS16 0 genome.wustl.edu 37 6 27222852 27222852 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 6 27222852 27222852 G A SNP PRSS16 ENST00000230582 human ensembl 74_37 +1 known missense c.1418 p.C473Y 0.994 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRSS16 HGNC ENSG00000112812 tier1 - - 85 0 0.00 66 14 17.50 71 0 0.00 46 14 23.33 ENSG00000205745 0 genome.wustl.edu 37 7 36124270 36124270 + Nonsense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 7 36124270 36124270 G A SNP ENSG00000205745 ENST00000381493 human ensembl 74_37 +1 novel nonsense c.272 p.W91* 0.007 NULL NULL - no_errors PP13004 Uniprot_gn ENSG00000205745 tier1 - - 51 0 0.00 29 13 30.95 72 0 0.00 51 17 24.64 IRF9 0 genome.wustl.edu 37 14 24632708 24632708 + Silent SNP C C A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 14 24632708 24632708 C A SNP IRF9 ENST00000396864 human ensembl 74_37 +1 known silent c.486 p.S162 0.009 NULL pfam_Interferon_reg_fact_D-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_D-bd_dom,prints_Interferon_reg_fact_D-bd_dom - no_errors IRF9 HGNC ENSG00000213928 tier1 - - 38 0 0.00 28 6 17.65 60 0 0.00 32 20 38.46 FLJ26850 0 genome.wustl.edu 37 19 50569594 50569594 + R SNP G G T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 19 50569594 50569594 G T SNP FLJ26850 ENST00000527209 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors CTD-2126E3.1 Clone_based_vega_gene ENSG00000204666 tier1 - - 42 0 0.00 30 10 25.00 21 0 0.00 35 7 16.67 ANKMY1 0 genome.wustl.edu 37 2 241420382 241420382 + Silent SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 2 241420382 241420382 C T SNP ANKMY1 ENST00000272972 human ensembl 74_37 -1 known silent c.2751 p.K917 0.842 pfam_Znf_MYND,pfscan_Znf_MYND pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 tier1 - - 133 0 0.00 119 38 24.20 105 0 0.00 100 35 25.74 ASMTL 0 genome.wustl.edu 37 X 1554101 1554101 + R SNP T T A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd X 1554101 1554101 T A SNP ASMTL ENST00000463763 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ASMTL HGNC ENSG00000169093 tier1 - - 38 0 0.00 18 10 34.48 113 1 0.88 47 18 27.69 SPRED1 0 genome.wustl.edu 37 15 38641683 38641683 + Nonsense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 15 38641683 38641683 C T SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known nonsense c.643 p.Q215* 1.000 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 tier1 rs121434314 - 44 0 0.00 16 11 40.74 88 0 0.00 36 26 41.94 OR51F2 0 genome.wustl.edu 37 11 4842933 4842933 + Silent SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 11 4842933 4842933 C T SNP OR51F2 ENST00000322110 human ensembl 74_37 +1 known silent c.318 p.I106 0.173 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F2 HGNC ENSG00000176925 tier1 - - 94 0 0.00 63 6 8.70 54 0 0.00 37 6 13.95 CDK5RAP3 0 genome.wustl.edu 37 17 46048622 46048622 + Missense_Mutation SNP C C G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 17 46048622 46048622 C G SNP CDK5RAP3 ENST00000583363 human ensembl 74_37 +1 known missense c.110 p.P37R 0.001 NULL NULL - no_errors CDK5RAP3 HGNC ENSG00000108465 tier1 - - 95 0 0.00 58 30 34.09 47 0 0.00 25 6 19.35 TCF19 0 genome.wustl.edu 37 6 31130282 31130282 + Missense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 6 31130282 31130282 C T SNP TCF19 ENST00000376255 human ensembl 74_37 +1 known missense c.826 p.P276S 0.927 superfamily_Znf_FYVE_PHD pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom - no_errors TCF19 HGNC ENSG00000137310 tier1 - - 48 0 0.00 26 7 21.21 74 0 0.00 48 6 11.11 LIFR 0 genome.wustl.edu 37 5 38530658 38530658 + Nonsense_Mutation SNP G G C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 5 38530658 38530658 G C SNP LIFR ENST00000263409 human ensembl 74_37 -1 known nonsense c.92 p.S31* 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 tier1 - - 36 0 0.00 17 11 39.29 85 0 0.00 25 27 51.92 ZNF347 0 genome.wustl.edu 37 19 53645440 53645440 + Missense_Mutation SNP A A C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 19 53645440 53645440 A C SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.644 p.F215C 0.000 NULL 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 ZNF347 HGNC ENSG00000197937 tier1 - - 47 0 0.00 32 13 28.89 100 1 0.99 48 24 33.33 DLX6 0 genome.wustl.edu 37 7 96637007 96637007 + Missense_Mutation SNP A A G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 7 96637007 96637007 A G SNP DLX6 ENST00000518156 human ensembl 74_37 +1 known missense c.494 p.K165R 1.000 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX6 HGNC ENSG00000006377 tier1 - - 28 0 0.00 13 13 50.00 198 0 0.00 75 42 35.90 DPEP1 0 genome.wustl.edu 37 16 89702330 89702330 + Missense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 16 89702330 89702330 C T SNP DPEP1 ENST00000261615 human ensembl 74_37 +1 known missense c.119 p.P40L 1.000 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP1 HGNC ENSG00000015413 tier1 - - 81 0 0.00 37 20 35.09 16 0 0.00 16 8 33.33 SPNS3 0 genome.wustl.edu 37 17 4389838 4389838 + Silent SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 17 4389838 4389838 C T SNP SPNS3 ENST00000355530 human ensembl 74_37 +1 known silent c.1410 p.Y470 0.998 pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS3 HGNC ENSG00000182557 tier1 - - 46 0 0.00 13 16 55.17 32 0 0.00 18 12 40.00 GLTPD2 0 genome.wustl.edu 37 17 4692361 4692361 + Missense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 17 4692361 4692361 C T SNP GLTPD2 ENST00000331264 human ensembl 74_37 +1 known missense c.55 p.P19S 0.009 NULL pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom - no_errors GLTPD2 HGNC ENSG00000182327 tier1 - - 129 1 0.77 64 17 20.99 58 0 0.00 20 3 13.04 ENSG00000269939 0 genome.wustl.edu 37 11 82896850 82896850 + R SNP T T A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 11 82896850 82896850 T A SNP ENSG00000269939 ENST00000602322 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-727A23.11 Clone_based_vega_gene ENSG00000269939 tier1 - - 56 0 0.00 29 8 21.62 84 0 0.00 30 25 44.64 TBC1D29 0 genome.wustl.edu 37 17 28887657 28887657 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 17 28887657 28887657 G A SNP TBC1D29 ENST00000579181 human ensembl 74_37 +1 known missense c.101 p.C34Y 0.993 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 tier1 - - 131 0 0.00 88 13 12.87 70 0 0.00 49 6 10.91 SULF1 0 genome.wustl.edu 37 8 70488399 70488399 + Missense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 8 70488399 70488399 C T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.367 p.P123S 1.000 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 89 0 0.00 28 20 41.67 85 0 0.00 24 23 48.94 ATL2 0 genome.wustl.edu 37 2 38536561 38536561 + Missense_Mutation SNP C C G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 2 38536561 38536561 C G SNP ATL2 ENST00000378954 human ensembl 74_37 -1 known missense c.1031 p.G344A 1.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C - no_errors ATL2 HGNC ENSG00000119787 tier1 - - 27 0 0.00 26 11 29.73 93 0 0.00 41 18 30.51 ALK 0 genome.wustl.edu 37 2 29519861 29519861 + Missense_Mutation SNP C C G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 2 29519861 29519861 C G SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.1710 p.E570D 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 tier1 - - 59 0 0.00 35 31 46.97 97 0 0.00 64 34 34.69 GLP1R 0 genome.wustl.edu 37 6 39053689 39053689 + Missense_Mutation SNP T T A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 6 39053689 39053689 T A SNP GLP1R ENST00000373256 human ensembl 74_37 +1 known missense c.1232 p.L411Q 0.998 NULL 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_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GLP1R HGNC ENSG00000112164 tier1 - - 74 0 0.00 48 22 31.43 86 0 0.00 46 24 34.29 LCA5 0 genome.wustl.edu 37 6 80198915 80198915 + Nonsense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 6 80198915 80198915 G A SNP LCA5 ENST00000369846 human ensembl 74_37 -1 known nonsense c.1117 p.Q373* 0.000 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 tier1 - - 23 0 0.00 15 13 46.43 72 0 0.00 50 20 28.57 EEF1G 0 genome.wustl.edu 37 11 62339327 62339327 + Missense_Mutation SNP T T C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 11 62339327 62339327 T C SNP EEF1G ENST00000378019 human ensembl 74_37 -1 known missense c.368 p.N123S 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con - no_errors EEF1G HGNC ENSG00000254772 tier1 - - 69 0 0.00 30 20 40.00 81 0 0.00 46 28 37.84 SLC4A10 0 genome.wustl.edu 37 2 162735640 162735640 + Splice_Site SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 2 162735640 162735640 G A SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known splice_site c.949-1 e9-1 1.000 - - - no_errors SLC4A10 HGNC ENSG00000144290 tier1 - - 22 0 0.00 27 12 30.77 66 0 0.00 46 28 37.84 SPATA41 0 genome.wustl.edu 37 15 100889473 100889473 + R SNP C C G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 15 100889473 100889473 C G SNP SPATA41 ENST00000560282 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SPATA41 HGNC ENSG00000189419 tier1 - - 48 0 0.00 52 11 17.46 131 0 0.00 82 21 20.39 CAC1E 0 genome.wustl.edu 37 1 181686247 181686247 + Missense_Mutation SNP C C A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 1 181686247 181686247 C A SNP CAC1E ENST00000367573 human ensembl 74_37 +1 known missense c.1334 p.A445D 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CAC1E HGNC ENSG00000198216 tier1 - - 28 0 0.00 21 14 40.00 96 1 1.02 62 33 34.74 NUAK1 0 genome.wustl.edu 37 12 106461409 106461409 + Missense_Mutation SNP G G T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 12 106461409 106461409 G T SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.1157 p.P386H 0.054 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 tier1 - - 45 0 0.00 27 9 25.00 88 0 0.00 43 21 32.81 ENTPD8 0 genome.wustl.edu 37 9 140330683 140330683 + Missense_Mutation SNP A A G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 9 140330683 140330683 A G SNP ENTPD8 ENST00000371506 human ensembl 74_37 -1 known missense c.832 p.Y278H 0.999 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD8 HGNC ENSG00000188833 tier1 - - 103 0 0.00 60 34 36.17 34 0 0.00 18 9 33.33 SLC22A20 0 genome.wustl.edu 37 11 65000676 65000676 + R SNP C C G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 11 65000676 65000676 C G SNP SLC22A20 ENST00000525437 human ensembl 74_37 +1 known rna NULL NULL 0.982 - - - no_errors SLC22A20 HGNC ENSG00000197847 tier1 - - 51 0 0.00 46 23 32.86 88 0 0.00 52 24 31.58 DDX56 0 genome.wustl.edu 37 7 44613318 44613318 + Missense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 7 44613318 44613318 C T SNP DDX56 ENST00000258772 human ensembl 74_37 -1 known missense c.86 p.R29Q 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_R_helicase_DEAD_Q_motif pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif - no_errors DDX56 HGNC ENSG00000136271 tier1 - - 55 0 0.00 39 14 26.42 39 0 0.00 30 9 23.08 TENM4 0 genome.wustl.edu 37 11 78383117 78383117 + Silent SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 11 78383117 78383117 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known silent c.5754 p.F1918 0.995 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 40 0 0.00 28 12 30.00 100 0 0.00 53 27 33.75 COBL 0 genome.wustl.edu 37 7 51141048 51141048 + Missense_Mutation SNP C C G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 7 51141048 51141048 C G SNP COBL ENST00000441453 human ensembl 74_37 -1 known missense c.1131 p.K377N 1.000 NULL pfam_Cordon-bleu_ubiquitin_domain - no_errors COBL HGNC ENSG00000106078 tier1 - - 24 0 0.00 14 5 26.32 78 0 0.00 71 11 13.41 CBLB 0 genome.wustl.edu 37 3 105421207 105421207 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 3 105421207 105421207 G A SNP CBLB ENST00000264122 human ensembl 74_37 -1 known missense c.1690 p.P564S 0.992 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 tier1 - - 74 0 0.00 17 12 41.38 108 1 0.92 45 27 36.99 GAPDH 0 genome.wustl.edu 37 12 6647317 6647317 + Missense_Mutation SNP A A C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 12 6647317 6647317 A C SNP GAPDH ENST00000229239 human ensembl 74_37 +1 known missense c.989 p.H330P 1.000 pirsf_GlycerAld/Erythrose_P_DH pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_D(P)-bd,smart_GlycerAld_3-P_DH_D(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDH HGNC ENSG00000111640 tier1 - - 25 0 0.00 32 9 21.95 36 0 0.00 33 18 35.29 TSSK6 0 genome.wustl.edu 37 19 19626029 19626029 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 19 19626029 19626029 G A SNP TSSK6 ENST00000360913 human ensembl 74_37 -1 known missense c.208 p.P70S 1.000 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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK6 HGNC ENSG00000178093 tier1 - - 39 0 0.00 34 15 30.61 46 0 0.00 16 15 48.39 UGT3A2 0 genome.wustl.edu 37 5 36039667 36039667 + Nonsense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 5 36039667 36039667 C T SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known nonsense c.987 p.W329* 0.976 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 tier1 - - 60 0 0.00 56 10 15.15 161 0 0.00 82 32 28.07 PHF17 0 genome.wustl.edu 37 4 129792902 129792902 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 4 129792902 129792902 G A SNP PHF17 ENST00000226319 human ensembl 74_37 +1 known missense c.2014 p.D672N 0.989 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 tier1 - - 22 0 0.00 16 5 23.81 78 0 0.00 41 24 36.92 WDR3 0 genome.wustl.edu 37 1 118483749 118483749 + Silent SNP A A C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 1 118483749 118483749 A C SNP WDR3 ENST00000349139 human ensembl 74_37 +1 known silent c.792 p.R264 0.292 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 tier1 - - 31 0 0.00 30 13 30.23 98 0 0.00 66 35 34.65 UNC13C 0 genome.wustl.edu 37 15 54630676 54630676 + Missense_Mutation SNP C C G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 15 54630676 54630676 C G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.4702 p.L1568V 1.000 pfam_Ca-dep_secretion_activator pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 43 0 0.00 4 21 84.00 87 0 0.00 30 37 55.22 DPCR1 0 genome.wustl.edu 37 6 30916955 30916955 + Missense_Mutation SNP G G C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 6 30916955 30916955 G C SNP DPCR1 ENST00000462446 human ensembl 74_37 +1 novel missense c.714 p.K238N 0.000 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 tier1 - - 21 0 0.00 15 4 21.05 80 0 0.00 60 27 30.68 ZNF268 0 genome.wustl.edu 37 12 133779947 133779947 + Missense_Mutation SNP C C A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 12 133779947 133779947 C A SNP ZNF268 ENST00000228289 human ensembl 74_37 +1 known missense c.1675 p.H559N 0.000 pfam_Znf_C2H2,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 ZNF268 HGNC ENSG00000090612 tier1 - - 11 0 0.00 10 11 52.38 85 1 1.16 41 7 14.58 MBD3 0 genome.wustl.edu 37 19 1584657 1584657 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 19 1584657 1584657 G A SNP MBD3 ENST00000156825 human ensembl 74_37 -1 known missense c.290 p.T97M 1.000 superfamily_D-bd_dom pfam_Methyl_CpG_D-bd,superfamily_D-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_D-bd,pfscan_Methyl_CpG_D-bd - no_errors MBD3 HGNC ENSG00000071655 tier1 - - 49 0 0.00 17 17 50.00 47 0 0.00 14 13 48.15 OTOF 0 genome.wustl.edu 37 2 26698260 26698260 + Silent SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 2 26698260 26698260 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.3093 p.I1031 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 57 0 0.00 46 25 35.21 71 0 0.00 29 15 34.09 OTOF 0 genome.wustl.edu 37 2 26698230 26698230 + Silent SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 2 26698230 26698230 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.3123 p.S1041 0.999 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 56 0 0.00 46 37 44.58 70 0 0.00 29 20 40.82 ZAK 0 genome.wustl.edu 37 2 174131048 174131048 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 2 174131048 174131048 G A SNP ZAK ENST00000375213 human ensembl 74_37 +1 known missense c.1973 p.G658D 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 tier1 - - 29 0 0.00 31 7 18.42 91 1 1.09 78 20 20.41 FOXK2 0 genome.wustl.edu 37 17 80540673 80540673 + Silent SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 17 80540673 80540673 C T SNP FOXK2 ENST00000335255 human ensembl 74_37 +1 known silent c.966 p.S322 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK2 HGNC ENSG00000141568 tier1 - - 30 0 0.00 25 11 30.56 124 0 0.00 81 11 11.96 PM20D1 0 genome.wustl.edu 37 1 205811878 205811878 + Silent SNP A A G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 1 205811878 205811878 A G SNP PM20D1 ENST00000367136 human ensembl 74_37 -1 known silent c.829 p.L277 1.000 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer - no_errors PM20D1 HGNC ENSG00000162877 tier1 - - 46 0 0.00 33 15 31.25 65 0 0.00 42 29 40.85 SLC6A7 0 genome.wustl.edu 37 5 149582250 149582250 + Missense_Mutation SNP C C G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 5 149582250 149582250 C G SNP SLC6A7 ENST00000230671 human ensembl 74_37 +1 known missense c.1071 p.D357E 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 tier1 - - 46 0 0.00 27 12 30.77 65 0 0.00 29 20 40.82 PHLDB1 0 genome.wustl.edu 37 11 118513087 118513087 + Missense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 11 118513087 118513087 C T SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.2852 p.P951L 0.998 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 tier1 - - 96 0 0.00 64 34 34.69 46 0 0.00 21 17 44.74 ZNF733P 0 genome.wustl.edu 37 7 62752551 62752551 + R SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 7 62752551 62752551 G A SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.970 - - - no_errors ZNF733P HGNC ENSG00000185037 tier1 - - 51 0 0.00 32 6 15.79 8 0 0.00 10 4 28.57 CXorf64 0 genome.wustl.edu 37 X 125955076 125955076 + Missense_Mutation SNP A A T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd X 125955076 125955076 A T SNP CXorf64 ENST00000371125 human ensembl 74_37 +1 known missense c.455 p.E152V 0.065 NULL NULL - no_errors CXorf64 HGNC ENSG00000183631 tier1 - - 100 0 0.00 79 7 8.14 97 0 0.00 89 15 14.42 OPA1 0 genome.wustl.edu 37 3 193372786 193372786 + Silent SNP T T A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 3 193372786 193372786 T A SNP OPA1 ENST00000361510 human ensembl 74_37 +1 known silent c.2148 p.T716 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF - no_errors OPA1 HGNC ENSG00000198836 tier1 - - 36 0 0.00 24 10 29.41 112 0 0.00 98 21 17.65 UTP3 0 genome.wustl.edu 37 4 71555634 71555634 + Nonsense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 4 71555634 71555634 C T SNP UTP3 ENST00000254803 human ensembl 74_37 +1 known nonsense c.1240 p.Q414* 1.000 pfam_Sas10_C_dom pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D - no_errors UTP3 HGNC ENSG00000132467 tier1 - - 21 0 0.00 10 8 42.11 77 0 0.00 54 24 30.38 FAM220A 0 genome.wustl.edu 37 7 6370316 6370316 + Missense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 7 6370316 6370316 C T SNP FAM220A ENST00000313324 human ensembl 74_37 -1 known missense c.470 p.R157H 0.000 NULL NULL - no_errors FAM220A HGNC ENSG00000178397 tier1 - - 74 0 0.00 30 25 45.45 44 0 0.00 25 12 32.43 DGCR2 0 genome.wustl.edu 37 22 19050736 19050736 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 22 19050736 19050736 G A SNP DGCR2 ENST00000263196 human ensembl 74_37 -1 known missense c.604 p.R202C 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 tier1 - - 27 0 0.00 18 15 45.45 102 0 0.00 35 19 35.19 SPACA1 0 genome.wustl.edu 37 6 88768470 88768470 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 6 88768470 88768470 G A SNP SPACA1 ENST00000237201 human ensembl 74_37 +1 known missense c.404 p.R135K 0.059 NULL NULL - no_errors SPACA1 HGNC ENSG00000118434 tier1 - - 13 0 0.00 18 4 18.18 127 0 0.00 74 38 33.93 GCOM1 0 genome.wustl.edu 37 15 57924644 57924644 + Missense_Mutation SNP C C A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 15 57924644 57924644 C A SNP GCOM1 ENST00000380569 human ensembl 74_37 +1 known missense c.691 p.Q231K 1.000 NULL NULL - no_errors GCOM1 HGNC ENSG00000137878 tier1 - - 189 1 0.53 62 77 55.40 83 0 0.00 20 34 62.96 MAGED1 0 genome.wustl.edu 37 X 51640322 51640322 + Missense_Mutation SNP T T C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd X 51640322 51640322 T C SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.1609 p.Y537H 0.998 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 tier1 - - 43 0 0.00 38 7 15.56 93 0 0.00 67 17 20.24 DAGLA 0 genome.wustl.edu 37 11 61504767 61504767 + Missense_Mutation SNP T T G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 11 61504767 61504767 T G SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.1485 p.F495L 0.999 pfam_Lipase_3 pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 tier1 - - 83 0 0.00 64 31 32.63 37 0 0.00 13 20 60.61 MKI67 0 genome.wustl.edu 37 10 129910594 129910594 + Missense_Mutation SNP G G C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 10 129910594 129910594 G C SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.1772 p.A591G 0.001 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 - - 67 0 0.00 16 17 51.52 134 0 0.00 37 50 57.47 AKAP3 0 genome.wustl.edu 37 12 4737038 4737038 + Missense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 12 4737038 4737038 C T SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known missense c.1030 p.V344I 0.915 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 tier1 - - 32 0 0.00 22 32 59.26 49 0 0.00 40 32 44.44 SPINK8 0 genome.wustl.edu 37 3 48369805 48369805 + Silent SNP G G T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 3 48369805 48369805 G T SNP SPINK8 ENST00000434006 human ensembl 74_37 -1 known silent c.27 p.I9 0.002 NULL pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK8 HGNC ENSG00000229453 tier1 - - 52 0 0.00 11 18 62.07 90 1 1.10 28 23 44.23 ANKMY1 0 genome.wustl.edu 37 2 241420515 241420515 + Splice_Site SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 2 241420515 241420515 C T SNP ANKMY1 ENST00000272972 human ensembl 74_37 -1 known splice_site c.2619-1 e15-1 0.828 - - - no_errors ANKMY1 HGNC ENSG00000144504 tier1 - - 76 0 0.00 83 27 24.55 73 0 0.00 76 27 26.21 SERTAD2 0 genome.wustl.edu 37 2 64863377 64863377 + Missense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 2 64863377 64863377 C T SNP SERTAD2 ENST00000313349 human ensembl 74_37 -1 known missense c.629 p.G210D 0.935 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD2 HGNC ENSG00000179833 tier1 - - 27 0 0.00 35 5 12.50 65 1 1.52 47 10 17.54 ALS2CR11 0 genome.wustl.edu 37 2 202358884 202358884 + Missense_Mutation SNP T T C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 2 202358884 202358884 T C SNP ALS2CR11 ENST00000439140 human ensembl 74_37 -1 novel missense c.2180 p.E727G 0.000 NULL superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 tier1 - - 35 0 0.00 22 7 24.14 98 0 0.00 92 22 19.30 ZSCAN20 0 genome.wustl.edu 37 1 33956909 33956909 + Missense_Mutation SNP C C G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 1 33956909 33956909 C G SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known missense c.1051 p.H351D 1.000 smart_SANT/Myb pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 tier1 - - 45 0 0.00 17 18 51.43 84 0 0.00 25 28 52.83 MUC16 0 genome.wustl.edu 37 19 9085355 9085355 + Missense_Mutation SNP A A T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 19 9085355 9085355 A T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.6460 p.S2154T 0.019 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 52 0 0.00 29 18 38.30 96 0 0.00 62 20 24.39 ANKMY1 0 genome.wustl.edu 37 2 241420409 241420409 + Missense_Mutation SNP C C G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 2 241420409 241420409 C G SNP ANKMY1 ENST00000272972 human ensembl 74_37 -1 known missense c.2724 p.K908N 0.899 pfam_Znf_MYND,pfscan_Znf_MYND pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 tier1 - - 135 0 0.00 135 43 24.02 108 0 0.00 109 36 24.83 PRRC2C 0 genome.wustl.edu 37 1 171519345 171519345 + Missense_Mutation SNP A A G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 1 171519345 171519345 A G SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.5093 p.E1698G 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 tier1 - - 63 0 0.00 36 18 33.33 116 0 0.00 80 25 23.58 NHLRC2 0 genome.wustl.edu 37 10 115661629 115661629 + Silent SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 10 115661629 115661629 C T SNP NHLRC2 ENST00000369301 human ensembl 74_37 +1 known silent c.1344 p.H448 1.000 NULL pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 tier1 - - 35 0 0.00 13 4 23.53 48 0 0.00 22 13 37.14 LRFN1 0 genome.wustl.edu 37 19 39799115 39799115 + Missense_Mutation SNP A A C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 19 39799115 39799115 A C SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known missense c.1474 p.C492G 1.000 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_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN1 HGNC ENSG00000128011 tier1 - - 21 0 0.00 16 6 27.27 48 0 0.00 25 12 32.43 PCDH10 0 genome.wustl.edu 37 4 134073855 134073855 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 4 134073855 134073855 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2560 p.G854R 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 - - 39 0 0.00 38 13 25.49 92 0 0.00 54 19 26.03 MRPL44 0 genome.wustl.edu 37 2 224831683 224831683 + Missense_Mutation SNP A A G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 2 224831683 224831683 A G SNP MRPL44 ENST00000258383 human ensembl 74_37 +1 known missense c.931 p.R311G 0.682 NULL superfamily_RNase_III_dom,pfscan_dsR-bd_dom - no_errors MRPL44 HGNC ENSG00000135900 tier1 - - 38 0 0.00 10 15 60.00 126 0 0.00 33 33 50.00 KMT2D 0 genome.wustl.edu 37 12 49446096 49446096 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 12 49446096 49446096 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.1370 p.P457L 0.990 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 44 0 0.00 30 8 21.05 18 0 0.00 14 6 30.00 ZNF226 0 genome.wustl.edu 37 19 44680347 44680347 + Missense_Mutation SNP A A T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 19 44680347 44680347 A T SNP ZNF226 ENST00000337433 human ensembl 74_37 +1 known missense c.932 p.E311V 0.017 pfam_Znf_C2H2,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 ZNF226 HGNC ENSG00000167380 tier1 - - 41 0 0.00 26 14 35.00 112 1 0.88 57 16 21.92 PARP14 0 genome.wustl.edu 37 3 122437331 122437331 + Missense_Mutation SNP T T C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 3 122437331 122437331 T C SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known missense c.4333 p.W1445R 0.099 NULL pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 tier1 - - 23 0 0.00 16 10 38.46 119 0 0.00 68 28 29.17 PCDHGA10 0 genome.wustl.edu 37 5 140793419 140793419 + Missense_Mutation SNP G G T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 5 140793419 140793419 G T SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known missense c.677 p.R226L 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 tier1 - - 75 0 0.00 51 21 29.17 39 0 0.00 28 11 28.21 LCORL 0 genome.wustl.edu 37 4 17885560 17885560 + Missense_Mutation SNP T T G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 4 17885560 17885560 T G SNP LCORL ENST00000382226 human ensembl 74_37 -1 known missense c.1592 p.E531A 1.000 pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCORL HGNC ENSG00000178177 tier1 - - 47 0 0.00 36 8 18.18 75 0 0.00 40 15 27.27 NTRK2 0 genome.wustl.edu 37 9 87563475 87563475 + Silent SNP C C A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 9 87563475 87563475 C A SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known silent c.1863 p.G621 0.012 pfam_Ser-Thr/Tyr_kinase_cat_dom,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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 tier1 - - 73 0 0.00 44 21 32.31 79 0 0.00 39 28 41.79 MED14 0 genome.wustl.edu 37 X 40573854 40573854 + Missense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd X 40573854 40573854 C T SNP MED14 ENST00000324817 human ensembl 74_37 -1 known missense c.457 p.A153T 1.000 pfam_Mediator_Med14 pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 tier1 - - 53 0 0.00 37 11 22.92 116 0 0.00 82 18 18.00 OR4C15 0 genome.wustl.edu 37 11 55321796 55321796 + Missense_Mutation SNP C C A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 11 55321796 55321796 C A SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.14 p.T5K 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 tier1 - - 37 0 0.00 24 15 38.46 73 0 0.00 42 28 40.00 ATP9A 0 genome.wustl.edu 37 20 50255956 50255956 + Nonsense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 20 50255956 50255956 G A SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known nonsense c.1594 p.Q532* 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,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 ATP9A HGNC ENSG00000054793 tier1 - - 53 0 0.00 31 25 44.64 49 0 0.00 27 15 35.71 GPR123 0 genome.wustl.edu 37 10 134885552 134885552 + Missense_Mutation SNP T T C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 10 134885552 134885552 T C SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative missense c.311 p.V104A 0.002 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 tier1 - - 150 0 0.00 85 9 9.57 67 0 0.00 13 5 27.78 HTR3E 0 genome.wustl.edu 37 3 183818417 183818417 + Missense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 3 183818417 183818417 C T SNP HTR3E ENST00000335304 human ensembl 74_37 +1 known missense c.257 p.A86V 0.940 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 tier1 - - 93 0 0.00 89 12 11.88 100 0 0.00 86 23 21.10 SI3 0 genome.wustl.edu 37 16 88747687 88747687 + Missense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 16 88747687 88747687 C T SNP SI3 ENST00000332281 human ensembl 74_37 -1 known missense c.512 p.R171Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SI3 HGNC ENSG00000185669 tier1 - - 72 0 0.00 49 25 33.78 19 0 0.00 10 7 41.18 ZBTB1 0 genome.wustl.edu 37 14 64990324 64990324 + Missense_Mutation SNP T T G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 14 64990324 64990324 T G SNP ZBTB1 ENST00000394712 human ensembl 74_37 +1 known missense c.2102 p.M701R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 tier1 - - 18 0 0.00 3 7 70.00 61 0 0.00 20 25 55.56 SPRED1 0 genome.wustl.edu 37 15 38641682 38641682 + Silent SNP G G T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 15 38641682 38641682 G T SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known silent c.642 p.R214 0.996 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 tier1 - - 45 0 0.00 16 11 40.74 89 0 0.00 36 25 40.32 BRCA2 0 genome.wustl.edu 37 13 32913902 32913902 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 13 32913902 32913902 G A SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.5410 p.V1804I 0.000 pirsf_BRCA2 pfam_D_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_D_recomb/repair_BRCA2_hlx,superfamily_-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 tier1 - - 21 0 0.00 8 9 52.94 83 0 0.00 38 25 39.68 LRRC30 0 genome.wustl.edu 37 18 7232042 7232042 + Nonstop_Mutation SNP A A T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 18 7232042 7232042 A T SNP LRRC30 ENST00000383467 human ensembl 74_37 +1 known nonstop c.906 p.*302C 0.911 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 tier1 - - 26 0 0.00 4 10 71.43 100 0 0.00 21 28 57.14 DRP2 0 genome.wustl.edu 37 X 100515140 100515140 + Missense_Mutation SNP C C G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd X 100515140 100515140 C G SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.2731 p.P911A 1.000 pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 tier1 - - 84 0 0.00 75 32 29.91 101 0 0.00 59 29 32.95 TP53 0 genome.wustl.edu 37 17 7576897 7576897 + Nonsense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 17 7576897 7576897 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.949 p.Q317* 0.012 NULL 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 - - 73 0 0.00 32 27 45.76 151 0 0.00 40 48 54.55 NOS3 0 genome.wustl.edu 37 7 150696416 150696416 + Silent SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 7 150696416 150696416 G A SNP NOS3 ENST00000297494 human ensembl 74_37 +1 known silent c.1095 p.R365 0.997 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 tier1 - - 21 0 0.00 17 12 41.38 41 0 0.00 22 10 31.25 ZNF831 0 genome.wustl.edu 37 20 57829403 57829403 + Missense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 20 57829403 57829403 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.4639 p.P1547S 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 25 0 0.00 16 4 20.00 95 0 0.00 67 19 22.09 E2F3 0 genome.wustl.edu 37 6 20481454 20481455 + Frame_Shift_Ins INS - - A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 6 20481454 20481455 - A INS E2F3 ENST00000346618 human ensembl 74_37 +1 known frame_shift_ins c.523_524 p.T177fs 1.000:1.000 NULL pfam_E2F_TDP - no_errors E2F3 HGNC ENSG00000112242 tier1 30 0 0.00 11 9 45.00 56 0 0.00 43 23 34.85 TLE4 0 genome.wustl.edu 37 9 82308573 82308575 + In_Frame_Del DEL GTT GTT - TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 GTT GTT GTT - GTT GTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 9 82308573 82308575 GTT - DEL TLE4 ENST00000376520 human ensembl 74_37 +1 known in_frame_del c.617_619 p.SL206in_frame_delI 0.000:0.000:0.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 tier1 45 0 0.00 34 18 34.62 83 0 0.00 54 24 30.77 ERAS 0 genome.wustl.edu 37 X 48688009 48688009 + Missense_Mutation SNP C C G TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd X 48688009 48688009 C G SNP ERAS ENST00000338270 human ensembl 74_37 +1 known missense c.476 p.A159G 0.003 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ERAS HGNC ENSG00000187682 tier1 - - 67 0 0.00 50 18 26.47 25 0 0.00 7 2 22.22 LOC150776 0 genome.wustl.edu 37 2 132250386 132250386 + R SNP T T C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 2 132250386 132250386 T C SNP LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 tier1 - - 78 0 0.00 58 26 30.95 21 0 0.00 8 2 20.00 MYLK2 0 genome.wustl.edu 37 20 30421644 30421644 + R SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 20 30421644 30421644 G A SNP MYLK2 ENST00000468730 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MYLK2 HGNC ENSG00000101306 tier1 - - 23 0 0.00 20 12 37.50 19 0 0.00 8 3 25.00 PTCHD2 0 genome.wustl.edu 37 1 11579882 11579882 + Silent SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 1 11579882 11579882 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known silent c.2145 p.E715 1.000 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 tier1 - - 50 0 0.00 25 14 35.90 5 0 0.00 7 2 22.22 ZIC4 0 genome.wustl.edu 37 3 147111638 147111638 + R SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 3 147111638 147111638 C T SNP ZIC4 ENST00000464502 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 32 0 0.00 8 13 61.90 19 0 0.00 5 5 50.00 AKAP12 0 genome.wustl.edu 37 6 151671939 151671939 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 6 151671939 151671939 G A SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known missense c.2413 p.V805I 1.000 pfam_Pkinase-A_anch_WSK-motif pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 tier1 - - 13 0 0.00 15 4 20.00 81 0 0.00 66 7 9.59 PDGFRB 0 genome.wustl.edu 37 5 149500489 149500489 + Missense_Mutation SNP C C A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 5 149500489 149500489 C A SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known missense c.2548 p.D850Y 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 tier1 - - 81 0 0.00 47 9 16.07 64 0 0.00 50 4 7.41 SPACA1 0 genome.wustl.edu 37 6 88769229 88769229 + Missense_Mutation SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 6 88769229 88769229 C T SNP SPACA1 ENST00000237201 human ensembl 74_37 +1 known missense c.533 p.P178L 0.470 NULL NULL - no_errors SPACA1 HGNC ENSG00000118434 tier1 - - 15 0 0.00 12 5 29.41 75 0 0.00 55 5 8.33 SNCB 0 genome.wustl.edu 37 5 176048272 176048272 + Silent SNP T T C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 5 176048272 176048272 T C SNP SNCB ENST00000310112 human ensembl 74_37 -1 known silent c.315 p.E105 0.990 pfam_Synuclein,prints_Synuclein_beta pfam_Synuclein,prints_Synuclein,prints_Synuclein_beta - no_errors SNCB HGNC ENSG00000074317 tier1 - - 66 0 0.00 55 11 16.67 104 0 0.00 74 7 8.64 ABCA8 0 genome.wustl.edu 37 17 66877272 66877272 + Missense_Mutation SNP T T C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 17 66877272 66877272 T C SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known missense c.4027 p.T1343A 0.996 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 tier1 - - 65 0 0.00 38 16 29.63 149 2 1.32 82 53 39.26 ANKLE1 0 genome.wustl.edu 37 19 17397495 17397495 + Missense_Mutation SNP G G T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 19 17397495 17397495 G T SNP ANKLE1 ENST00000598347 human ensembl 74_37 +1 putative missense c.1765 p.V589L 0.072 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKLE1 HGNC ENSG00000160117 tier1 - - 16 0 0.00 12 5 29.41 13 0 0.00 5 0 0.00 CYP4F43P 0 genome.wustl.edu 37 2 131187400 131187400 + R SNP G G T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 2 131187400 131187400 G T SNP CYP4F43P ENST00000455215 human ensembl 74_37 -1 known rna NULL NULL 0.055 - - - no_errors CYP4F43P HGNC ENSG00000239402 tier1 - - 32 0 0.00 23 6 20.69 12 0 0.00 5 1 16.67 TUBB4B 0 genome.wustl.edu 37 9 140137556 140137556 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 9 140137556 140137556 G A SNP TUBB4B ENST00000340384 human ensembl 74_37 +1 known missense c.886 p.A296T 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,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 TUBB4B HGNC ENSG00000188229 tier1 - - 136 0 0.00 89 8 8.25 7 0 0.00 4 1 20.00 ZNF469 0 genome.wustl.edu 37 16 88502797 88502797 + Silent SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 16 88502797 88502797 G A SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known silent c.8835 p.K2945 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 89 0 0.00 79 11 12.22 6 0 0.00 3 0 0.00 ENSG00000221280 0 genome.wustl.edu 37 12 118604636 118604636 + R SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 12 118604636 118604636 C T SNP ENSG00000221280 ENST00000408353 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC026366.1 Clone_based_ensembl_gene ENSG00000221280 tier1 rs61943534 - 13 0 0.00 14 4 22.22 0 0 0.00 0 0 0.00 HERC2P3 0 genome.wustl.edu 37 15 20644374 20644374 + R SNP A A T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 15 20644374 20644374 A T SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors HERC2P3 HGNC ENSG00000180229 tier1 - - 82 0 0.00 50 19 27.54 3 0 0.00 3 1 25.00 LZTS3 0 genome.wustl.edu 37 20 3146263 3146263 + Silent SNP C C T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 20 3146263 3146263 C T SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known silent c.1203 p.K401 1.000 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 tier1 - - 42 0 0.00 12 10 45.45 4 0 0.00 0 0 0.00 TBC1D3P1-DHX40P1 0 genome.wustl.edu 37 17 58085530 58085530 + R SNP T T C TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 17 58085530 58085530 T C SNP TBC1D3P1-DHX40P1 ENST00000407042 human ensembl 74_37 -1 known rna NULL NULL 0.068 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 tier1 - - 21 0 0.00 13 4 23.53 0 0 0.00 0 0 0.00 ENSG00000259455 0 genome.wustl.edu 37 15 23406924 23406924 + Missense_Mutation SNP G G T TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 15 23406924 23406924 G T SNP ENSG00000259455 ENST00000558241 human ensembl 74_37 -1 novel missense c.1912 p.Q638K 0.078 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors RP11-467N20.5 Clone_based_vega_gene ENSG00000259455 tier1 - - 85 0 0.00 68 15 18.07 0 0 0.00 0 2 100.00 OR4A47 0 genome.wustl.edu 37 11 48510756 48510756 + Missense_Mutation SNP G G A TCGA-IS-A3K7-01A-11D-A21Q-09 TCGA-IS-A3K7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq afee5b10-3dff-4e50-9575-bc9fe20c5dea 71896be3-fce7-4266-b6d8-3e20e38337fd 11 48510756 48510756 G A SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known missense c.412 p.V138M 0.011 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 OR4A47 HGNC ENSG00000237388 tier1 - - 24 0 0.00 33 4 10.81 83 0 0.00 65 2 2.99