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 LEO1 0 genome.wustl.edu 37 15 52239560 52239560 + Missense_Mutation SNP C C G TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 15 52239560 52239560 C G SNP LEO1 ENST00000299601 human ensembl 74_37 -1 known missense c.1825 p.D609H 1.000 pfam_Leo1 pfam_Leo1 - no_errors LEO1 HGNC ENSG00000166477 tier1 - - 40 0 0.00 49 13 20.97 68 0 0.00 48 6 11.11 CXADRP3 0 genome.wustl.edu 37 18 14479052 14479052 + R SNP A A G TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 18 14479052 14479052 A G SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors CXADRP3 HGNC ENSG00000265766 tier1 - - 35 0 0.00 19 6 24.00 19 0 0.00 13 2 13.33 HIST1H4C 0 genome.wustl.edu 37 6 26104378 26104378 + Missense_Mutation SNP G G C TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 6 26104378 26104378 G C SNP HIST1H4C ENST00000377803 human ensembl 74_37 +1 known missense c.203 p.R68P 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4C HGNC ENSG00000197061 tier1 - - 43 0 0.00 30 7 18.92 73 0 0.00 54 26 32.50 PLCE1 0 genome.wustl.edu 37 10 96022444 96022444 + Silent SNP C C T TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 10 96022444 96022444 C T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.4008 p.C1336 1.000 pfam_PLipase_C_EF-hand-like pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 tier1 - - 48 0 0.00 53 32 37.65 106 0 0.00 67 37 35.58 ITGAL 0 genome.wustl.edu 37 16 30490513 30490513 + Silent SNP G G T TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 16 30490513 30490513 G T SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known silent c.429 p.G143 0.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 tier1 - - 49 0 0.00 48 16 25.00 110 0 0.00 69 14 16.47 PCDHGA9 0 genome.wustl.edu 37 5 140784397 140784397 + Silent SNP G G A TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 5 140784397 140784397 G A SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known silent c.1878 p.V626 1.000 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 PCDHGA9 HGNC ENSG00000261934 tier1 - - 110 0 0.00 95 20 17.39 30 0 0.00 22 5 18.52 LRBA 0 genome.wustl.edu 37 4 151849733 151849733 + Missense_Mutation SNP A A G TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 4 151849733 151849733 A G SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.484 p.Y162H 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 tier1 - - 24 0 0.00 27 5 15.62 129 0 0.00 101 32 24.06 NCAM1-AS1 0 genome.wustl.edu 37 11 113144349 113144349 + R SNP G G C TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 11 113144349 113144349 G C SNP NCAM1-AS1 ENST00000526229 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NCAM1-AS1 HGNC ENSG00000227487 tier1 - - 24 0 0.00 27 5 15.62 72 0 0.00 46 23 33.33 MCC 0 genome.wustl.edu 37 5 112389545 112389545 + Silent SNP C C T TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 5 112389545 112389545 C T SNP MCC ENST00000302475 human ensembl 74_37 -1 known silent c.1755 p.L585 1.000 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tR-bd_arm - no_errors MCC HGNC ENSG00000171444 tier1 - - 45 0 0.00 41 22 34.92 42 0 0.00 34 16 32.00 PRLHR 0 genome.wustl.edu 37 10 120354681 120354681 + Missense_Mutation SNP C C T TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 10 120354681 120354681 C T SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known missense c.76 p.A26T 0.014 prints_Prolrel_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 tier1 - - 58 0 0.00 56 11 16.18 28 0 0.00 18 4 18.18 RSEL 0 genome.wustl.edu 37 1 182549124 182549124 + Missense_Mutation SNP T T C TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 1 182549124 182549124 T C SNP RSEL ENST00000539397 human ensembl 74_37 -1 known missense c.1924 p.R642G 0.107 NULL pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KEN_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors RSEL HGNC ENSG00000135828 tier1 - - 93 0 0.00 73 20 21.51 73 0 0.00 51 8 13.56 RSEL 0 genome.wustl.edu 37 1 182544665 182544665 + Silent SNP A A G TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 1 182544665 182544665 A G SNP RSEL ENST00000367559 human ensembl 74_37 -1 known silent c.2088 p.F696 1.000 pfam_KEN_dom,smart_PUG-dom pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors RSEL HGNC ENSG00000135828 tier1 - - 88 0 0.00 69 16 18.82 124 0 0.00 63 14 18.18 BBS9 0 genome.wustl.edu 37 7 33397493 33397493 + Missense_Mutation SNP T T G TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 7 33397493 33397493 T G SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.1579 p.F527V 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 tier1 - - 31 0 0.00 22 3 12.00 92 0 0.00 53 13 19.70 LIG4 0 genome.wustl.edu 37 13 108862125 108862125 + Missense_Mutation SNP A A G TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 13 108862125 108862125 A G SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known missense c.1492 p.S498P 0.644 pfam_D_ligase_ATP-dep_C,superfamily_-bd_OB-fold,tigrfam_D_ligase_ATP-dep pfam_D_ligase_ATP-dep_cent,pfam_D_ligase_ATP-dep_N,pfam_D_ligase_IV,pfam_BRCT_dom,pfam_D_ligase_ATP-dep_C,superfamily_-bd_OB-fold,superfamily_BRCT_dom,superfamily_D_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_D_ligase_ATP-dep_cent,tigrfam_D_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 tier1 - - 27 0 0.00 27 4 12.90 77 0 0.00 76 10 11.63 PIEZO2 0 genome.wustl.edu 37 18 10773521 10773521 + Missense_Mutation SNP G G T TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 18 10773521 10773521 G T SNP PIEZO2 ENST00000582913 human ensembl 74_37 -1 known missense c.2641 p.L881I 0.000 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 tier1 - - 18 0 0.00 22 5 18.52 77 0 0.00 59 10 14.49 PLXDC1 0 genome.wustl.edu 37 17 37226190 37226190 + Silent SNP G G A TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 17 37226190 37226190 G A SNP PLXDC1 ENST00000315392 human ensembl 74_37 -1 known silent c.1302 p.V434 0.938 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC ENSG00000161381 tier1 - - 50 0 0.00 37 8 17.78 31 0 0.00 14 6 30.00 GPR158 0 genome.wustl.edu 37 10 25890212 25890212 + R SNP T T C TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 10 25890212 25890212 T C SNP GPR158 ENST00000490549 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 50 0 0.00 54 29 34.94 126 0 0.00 90 51 36.17 SHISA2 0 genome.wustl.edu 37 13 26621170 26621170 + Silent SNP G G A TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 13 26621170 26621170 G A SNP SHISA2 ENST00000319420 human ensembl 74_37 -1 known silent c.369 p.S123 0.001 NULL NULL - no_errors SHISA2 HGNC ENSG00000180730 tier1 rs139266835 - 22 0 0.00 15 6 28.57 109 0 0.00 63 17 21.25 SIPA1L1 0 genome.wustl.edu 37 14 72055964 72055964 + Missense_Mutation SNP G G A TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 14 72055964 72055964 G A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.1375 p.G459R 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 tier1 - - 34 0 0.00 25 11 30.56 92 1 1.08 79 17 17.71 GUCY1A3 0 genome.wustl.edu 37 4 156643228 156643228 + Silent SNP C C T TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 4 156643228 156643228 C T SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known silent c.1755 p.G585 0.985 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 tier1 - - 70 0 0.00 60 13 17.81 129 0 0.00 72 13 15.29 KIAA1109 0 genome.wustl.edu 37 4 123245583 123245583 + Missense_Mutation SNP C C A TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 4 123245583 123245583 C A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.10796 p.A3599D 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 31 0 0.00 44 4 8.33 108 0 0.00 67 16 19.28 ENSG00000251273 0 genome.wustl.edu 37 5 25190664 25190664 + R SNP G G A TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 5 25190664 25190664 G A SNP ENSG00000251273 ENST00000507600 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors RP11-549K20.1 Clone_based_vega_gene ENSG00000251273 tier1 - - 43 0 0.00 35 6 14.63 15 0 0.00 13 4 23.53 HSD3B2 0 genome.wustl.edu 37 1 119964751 119964751 + Silent SNP G G T TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 1 119964751 119964751 G T SNP HSD3B2 ENST00000369416 human ensembl 74_37 +1 known silent c.627 p.G209 0.020 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_D-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR - no_errors HSD3B2 HGNC ENSG00000203859 tier1 - - 64 0 0.00 58 12 17.14 121 0 0.00 53 16 23.19 OR10G7 0 genome.wustl.edu 37 11 123909182 123909182 + Missense_Mutation SNP T T A TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 11 123909182 123909182 T A SNP OR10G7 ENST00000330487 human ensembl 74_37 -1 known missense c.527 p.Y176F 0.824 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 OR10G7 HGNC ENSG00000182634 tier1 - - 157 0 0.00 129 44 25.43 24 0 0.00 18 9 33.33 NSMAF 0 genome.wustl.edu 37 8 59548025 59548025 + Splice_Site SNP A A G TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 8 59548025 59548025 A G SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known splice_site c.321+2 e3+2 1.000 - - - no_errors NSMAF HGNC ENSG00000035681 tier1 - - 35 0 0.00 41 10 19.61 113 0 0.00 78 15 16.13 ENSG00000222032 0 genome.wustl.edu 37 2 238341757 238341757 + R SNP G G C TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 2 238341757 238341757 G C SNP ENSG00000222032 ENST00000409910 human ensembl 74_37 -1 known rna NULL NULL 0.975 - - - no_errors AC112721.2 Clone_based_vega_gene ENSG00000222032 tier1 - - 71 0 0.00 59 14 19.18 137 0 0.00 86 18 17.31 CSMD1 0 genome.wustl.edu 37 8 3245037 3245037 + Missense_Mutation SNP G G C TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 8 3245037 3245037 G C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2764 p.H922D 1.000 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 - - 33 0 0.00 63 6 8.70 42 0 0.00 76 12 13.64 ENSG00000234277 0 genome.wustl.edu 37 1 227618623 227618623 + R SNP C C T TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 1 227618623 227618623 C T SNP ENSG00000234277 ENST00000445817 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2090I13.1 Clone_based_vega_gene ENSG00000234277 tier1 - - 24 0 0.00 11 4 26.67 28 0 0.00 21 3 12.50 CCDC11 0 genome.wustl.edu 37 18 47778111 47778111 + Nonsense_Mutation SNP G G A TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 18 47778111 47778111 G A SNP CCDC11 ENST00000398545 human ensembl 74_37 -1 known nonsense c.517 p.Q173* 0.017 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 tier1 - - 29 0 0.00 18 7 28.00 72 0 0.00 42 8 16.00 PGM5 0 genome.wustl.edu 37 9 70993134 70993134 + Missense_Mutation SNP G G C TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 9 70993134 70993134 G C SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.281 p.G94A 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 tier1 - - 62 0 0.00 43 14 23.73 32 0 0.00 17 8 32.00 IQCA1 0 genome.wustl.edu 37 2 237247013 237247013 + Missense_Mutation SNP G G A TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 2 237247013 237247013 G A SNP IQCA1 ENST00000409907 human ensembl 74_37 -1 known missense c.1969 p.R657C 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 tier1 rs186626813 GMAF=0.0005 41 0 0.00 43 5 10.42 118 0 0.00 66 10 13.16 QRICH2 0 genome.wustl.edu 37 17 74283966 74283966 + Nonsense_Mutation SNP G G A TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 17 74283966 74283966 G A SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known nonsense c.3313 p.Q1105* 0.008 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 tier1 - - 67 0 0.00 49 13 20.97 111 0 0.00 59 9 12.86 TRIM11 0 genome.wustl.edu 37 1 228582509 228582509 + Missense_Mutation SNP G G A TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 1 228582509 228582509 G A SNP TRIM11 ENST00000284551 human ensembl 74_37 -1 known missense c.1304 p.S435L 0.966 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM11 HGNC ENSG00000154370 tier1 - - 23 0 0.00 32 8 20.00 46 0 0.00 13 12 48.00 RAPGEF1 0 genome.wustl.edu 37 9 134463181 134463181 + Missense_Mutation SNP C C T TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 9 134463181 134463181 C T SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known missense c.2671 p.E891K 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 tier1 - - 37 0 0.00 25 13 34.21 94 0 0.00 54 20 27.03 ERBB4 0 genome.wustl.edu 37 2 212522509 212522509 + Missense_Mutation SNP G G A TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 2 212522509 212522509 G A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.1916 p.T639M 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 58 0 0.00 67 14 17.28 168 0 0.00 103 25 19.53 ATP10A 0 genome.wustl.edu 37 15 25940132 25940132 + Silent SNP G G A TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 15 25940132 25940132 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.2922 p.I974 0.113 superfamily_HAD-like_dom,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 ATP10A HGNC ENSG00000206190 tier1 - - 53 0 0.00 56 8 12.50 72 0 0.00 46 10 17.86 KIF15 0 genome.wustl.edu 37 3 44816813 44816813 + Missense_Mutation SNP G G C TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 3 44816813 44816813 G C SNP KIF15 ENST00000326047 human ensembl 74_37 +1 known missense c.130 p.D44H 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 tier1 - - 29 0 0.00 33 7 17.50 95 0 0.00 57 13 18.57 GPSM1 0 genome.wustl.edu 37 9 139252558 139252558 + Missense_Mutation SNP G G C TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 9 139252558 139252558 G C SNP GPSM1 ENST00000440944 human ensembl 74_37 +1 known missense c.1914 p.Q638H 1.000 pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif pfam_GoLoco_motif,pfam_TPR_1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM1 HGNC ENSG00000160360 tier1 - - 65 0 0.00 38 18 32.14 18 0 0.00 10 3 23.08 PTPN11 0 genome.wustl.edu 37 12 112915797 112915797 + Missense_Mutation SNP C C T TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 12 112915797 112915797 C T SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.1070 p.T357M 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 tier1 - - 42 0 0.00 26 11 29.73 69 0 0.00 62 10 13.89 PCDHB14 0 genome.wustl.edu 37 5 140603414 140603414 + Missense_Mutation SNP C C G TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 5 140603414 140603414 C G SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.337 p.P113A 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 tier1 - - 55 0 0.00 76 9 10.59 77 0 0.00 80 12 12.90 PRKCA 0 genome.wustl.edu 37 17 64770113 64770113 + Frame_Shift_Del DEL T T - TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 17 64770113 64770113 T - DEL PRKCA ENST00000413366 human ensembl 74_37 +1 known frame_shift_del c.1533 p.Y512fs 0.955 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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 tier1 62 0 0.00 53 11 17.19 107 0 0.00 54 8 12.90 PPP2R2B 0 genome.wustl.edu 37 5 146258290 146258291 + R INS - - GCTGCTGCT TCGA-DX-A3U8-01A-11D-A29N-09 TCGA-DX-A3U8-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 729229fe-92b9-439b-acd2-b49159116a41 de98db7b-81ee-4500-ab0a-80894271d467 5 146258290 146258291 - GCTGCTGCT INS PPP2R2B ENST00000530902 human ensembl 74_37 -1 known rna NULL NULL 0.975:0.996 - - - no_errors PPP2R2B HGNC ENSG00000156475 tier1 5 0 0.00 0 0 0.00 5 0 0.00 0 0 0.00