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 DOCK2 0 genome.wustl.edu 37 5 169469044 169469044 + Missense_Mutation SNP G G A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 5 169469044 169469044 G A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.3784 p.V1262I 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 32 0 0.00 9 5 35.71 46 0 0.00 21 8 27.59 ENSG00000221186 0 genome.wustl.edu 37 4 183747503 183747503 + R SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 4 183747503 183747503 C T SNP ENSG00000221186 ENST00000408259 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC114798.1 Clone_based_ensembl_gene ENSG00000221186 tier1 - - 138 0 0.00 77 33 30.00 71 0 0.00 56 20 26.32 MCF2L 0 genome.wustl.edu 37 13 113732739 113732739 + Missense_Mutation SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 13 113732739 113732739 C T SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.1894 p.R632W 0.997 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 tier1 - - 43 0 0.00 56 14 20.00 62 0 0.00 68 10 12.82 COL16A1 0 genome.wustl.edu 37 1 32151243 32151243 + Silent SNP T T C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 1 32151243 32151243 T C SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known silent c.2010 p.K670 0.987 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 tier1 - - 125 0 0.00 67 26 27.96 65 0 0.00 25 20 44.44 DK 0 genome.wustl.edu 37 1 1684501 1684501 + Splice_Site SNP T T A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 1 1684501 1684501 T A SNP DK ENST00000344463 human ensembl 74_37 -1 known splice_site c.1620-2 e13-2 1.000 - - - no_errors DK HGNC ENSG00000008130 tier1 - - 79 0 0.00 14 60 80.00 39 0 0.00 10 41 80.39 TEKT2 0 genome.wustl.edu 37 1 36553137 36553137 + Missense_Mutation SNP T T A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 1 36553137 36553137 T A SNP TEKT2 ENST00000207457 human ensembl 74_37 +1 known missense c.953 p.L318Q 1.000 pfam_Tektin,superfamily_Prefoldin,prints_Tektin pfam_Tektin,superfamily_Prefoldin,prints_Tektin - no_errors TEKT2 HGNC ENSG00000092850 tier1 - - 72 0 0.00 35 37 51.39 49 0 0.00 30 23 43.40 CD84 0 genome.wustl.edu 37 1 160535413 160535413 + Missense_Mutation SNP T T C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 1 160535413 160535413 T C SNP CD84 ENST00000311224 human ensembl 74_37 -1 novel missense c.169 p.K57E 0.000 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD84 HGNC ENSG00000066294 tier1 - - 54 0 0.00 55 14 20.29 136 0 0.00 100 24 19.35 MIP 0 genome.wustl.edu 37 12 56848076 56848076 + Missense_Mutation SNP T T A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 12 56848076 56848076 T A SNP MIP ENST00000257979 human ensembl 74_37 -1 known missense c.322 p.T108S 1.000 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors MIP HGNC ENSG00000135517 tier1 - - 45 0 0.00 10 24 70.59 121 0 0.00 16 72 81.82 ZZZ3 0 genome.wustl.edu 37 1 78031815 78031815 + Missense_Mutation SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 1 78031815 78031815 C T SNP ZZZ3 ENST00000370801 human ensembl 74_37 -1 known missense c.2518 p.D840N 1.000 pfam_Znf_ZZ,pfscan_Znf_ZZ pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 tier1 - - 109 0 0.00 107 19 15.08 103 0 0.00 103 37 26.43 DHRS9 0 genome.wustl.edu 37 2 169948327 169948327 + Silent SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 2 169948327 169948327 C T SNP DHRS9 ENST00000432060 human ensembl 74_37 +1 known silent c.780 p.H260 0.767 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 tier1 - - 100 0 0.00 27 44 61.97 143 0 0.00 22 49 69.01 TBC1D1 0 genome.wustl.edu 37 4 38134403 38134403 + R SNP T T A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 4 38134403 38134403 T A SNP TBC1D1 ENST00000405444 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TBC1D1 HGNC ENSG00000065882 tier1 - - 107 0 0.00 90 56 38.36 22 0 0.00 12 11 47.83 ARHGAP27 0 genome.wustl.edu 37 17 43481440 43481440 + Missense_Mutation SNP C C A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 17 43481440 43481440 C A SNP ARHGAP27 ENST00000428638 human ensembl 74_37 -1 known missense c.1502 p.G501V 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 tier1 - - 29 0 0.00 18 8 30.77 56 0 0.00 32 13 28.89 TMEM2 0 genome.wustl.edu 37 9 74365130 74365130 + Silent SNP G G T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 9 74365130 74365130 G T SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known silent c.160 p.R54 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 tier1 - - 108 0 0.00 72 23 24.21 102 0 0.00 102 18 15.00 LRP5 0 genome.wustl.edu 37 11 68204446 68204446 + Missense_Mutation SNP G G T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 11 68204446 68204446 G T SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.4090 p.G1364C 0.993 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 tier1 - - 38 0 0.00 19 27 58.70 51 1 1.89 43 32 42.67 INTS5 0 genome.wustl.edu 37 11 62416816 62416816 + Missense_Mutation SNP C C A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 11 62416816 62416816 C A SNP INTS5 ENST00000330574 human ensembl 74_37 -1 known missense c.736 p.G246C 1.000 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 tier1 - - 100 0 0.00 56 41 42.27 135 0 0.00 86 103 54.21 COPS4 0 genome.wustl.edu 37 4 83987617 83987617 + Missense_Mutation SNP A A T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 4 83987617 83987617 A T SNP COPS4 ENST00000264389 human ensembl 74_37 +1 known missense c.913 p.I305F 1.000 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors COPS4 HGNC ENSG00000138663 tier1 - - 108 0 0.00 103 19 15.57 98 0 0.00 51 15 22.73 COL4A1 0 genome.wustl.edu 37 13 110828798 110828798 + Nonsense_Mutation SNP C C A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 13 110828798 110828798 C A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known nonsense c.3031 p.G1011* 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 tier1 - - 50 0 0.00 48 26 35.14 119 0 0.00 112 49 30.43 PZP 0 genome.wustl.edu 37 12 9312564 9312564 + Missense_Mutation SNP T T C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 12 9312564 9312564 T C SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.3107 p.E1036G 0.010 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 tier1 - - 97 0 0.00 26 11 29.73 32 0 0.00 17 12 41.38 PGM1 0 genome.wustl.edu 37 1 64117302 64117302 + R SNP A A C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 1 64117302 64117302 A C SNP PGM1 ENST00000483707 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PGM1 HGNC ENSG00000079739 tier1 - - 76 0 0.00 10 47 82.46 79 0 0.00 26 50 65.79 DDX60 0 genome.wustl.edu 37 4 169196590 169196590 + Missense_Mutation SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 4 169196590 169196590 C T SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.2210 p.R737Q 0.978 NULL pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 tier1 - - 104 0 0.00 49 22 30.99 99 0 0.00 81 38 31.93 TULP4 0 genome.wustl.edu 37 6 158915857 158915857 + Silent SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 6 158915857 158915857 C T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.1849 p.L617 1.000 superfamily_Tubby_C-like pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 tier1 - - 47 0 0.00 13 8 38.10 119 0 0.00 46 37 44.58 GZF1 0 genome.wustl.edu 37 20 23345161 23345161 + Missense_Mutation SNP G G A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 20 23345161 23345161 G A SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.141 p.M47I 0.979 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_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 GZF1 HGNC ENSG00000125812 tier1 - - 65 0 0.00 24 28 53.85 130 0 0.00 44 37 45.68 ZNF277 0 genome.wustl.edu 37 7 111846832 111846832 + Missense_Mutation SNP T T A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 7 111846832 111846832 T A SNP ZNF277 ENST00000361822 human ensembl 74_37 +1 known missense c.61 p.C21S 0.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF277 HGNC ENSG00000198839 tier1 - - 175 0 0.00 94 27 22.31 40 0 0.00 25 16 39.02 BID 0 genome.wustl.edu 37 22 18220804 18220804 + Silent SNP G G A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 22 18220804 18220804 G A SNP BID ENST00000317361 human ensembl 74_37 -1 known silent c.693 p.Y231 0.406 pfam_BID pfam_BID - no_errors BID HGNC ENSG00000015475 tier1 rs146712574 - 58 0 0.00 30 21 41.18 66 0 0.00 61 34 35.79 DSG2 0 genome.wustl.edu 37 18 29116347 29116347 + Missense_Mutation SNP A A G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 18 29116347 29116347 A G SNP DSG2 ENST00000261590 human ensembl 74_37 +1 known missense c.1606 p.K536E 0.011 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 tier1 - - 49 0 0.00 19 10 34.48 144 0 0.00 59 57 49.14 AOC3 0 genome.wustl.edu 37 17 41007484 41007484 + Missense_Mutation SNP G G A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 17 41007484 41007484 G A SNP AOC3 ENST00000308423 human ensembl 74_37 +1 known missense c.1910 p.R637Q 0.964 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 tier1 - - 58 0 0.00 16 16 50.00 71 0 0.00 36 27 42.86 WDR70 0 genome.wustl.edu 37 5 37443374 37443374 + Missense_Mutation SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 5 37443374 37443374 C T SNP WDR70 ENST00000265107 human ensembl 74_37 +1 known missense c.586 p.R196C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC ENSG00000082068 tier1 - - 44 0 0.00 22 30 57.69 73 0 0.00 36 61 62.89 SPATA5 0 genome.wustl.edu 37 4 123949450 123949450 + Missense_Mutation SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 4 123949450 123949450 C T SNP SPATA5 ENST00000274008 human ensembl 74_37 +1 known missense c.1979 p.P660L 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_D_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 tier1 - - 89 0 0.00 44 21 32.31 142 0 0.00 81 21 20.59 AP1M1 0 genome.wustl.edu 37 19 16339600 16339600 + Missense_Mutation SNP G G A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 19 16339600 16339600 G A SNP AP1M1 ENST00000444449 human ensembl 74_37 +1 known missense c.944 p.R315Q 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC ENSG00000072958 tier1 - - 82 0 0.00 43 30 41.10 73 0 0.00 41 12 22.64 RASA1 0 genome.wustl.edu 37 5 86645158 86645158 + Missense_Mutation SNP G G A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 5 86645158 86645158 G A SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.1230 p.M410I 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 tier1 - - 92 0 0.00 80 26 24.53 158 0 0.00 99 32 24.43 KBTBD12 0 genome.wustl.edu 37 3 127642187 127642187 + Missense_Mutation SNP G G C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 3 127642187 127642187 G C SNP KBTBD12 ENST00000405109 human ensembl 74_37 +1 known missense c.283 p.E95Q 0.994 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC ENSG00000187715 tier1 - - 44 0 0.00 36 8 18.18 116 0 0.00 71 35 33.02 SDK2 0 genome.wustl.edu 37 17 71431719 71431719 + Silent SNP G G C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 17 71431719 71431719 G C SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known silent c.1065 p.T355 0.054 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 tier1 - - 90 0 0.00 28 8 22.22 54 0 0.00 24 11 31.43 RASA1 0 genome.wustl.edu 37 5 86645033 86645033 + Missense_Mutation SNP G G A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 5 86645033 86645033 G A SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.1105 p.G369S 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 tier1 - - 54 0 0.00 33 8 19.51 114 0 0.00 74 29 28.16 KCNH7 0 genome.wustl.edu 37 2 163279886 163279886 + Missense_Mutation SNP T T C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 2 163279886 163279886 T C SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.2114 p.Q705R 1.000 superfamily_cNMP-bd-like,prints_K_chnl_volt-dep_ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 tier1 - - 103 0 0.00 92 13 12.38 127 0 0.00 130 18 12.16 BTN1A1 0 genome.wustl.edu 37 6 26505348 26505348 + Missense_Mutation SNP T T C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 6 26505348 26505348 T C SNP BTN1A1 ENST00000244513 human ensembl 74_37 +1 known missense c.623 p.I208T 0.013 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 tier1 - - 41 0 0.00 28 10 26.32 79 0 0.00 42 13 23.64 GRM5 0 genome.wustl.edu 37 11 88300954 88300954 + Missense_Mutation SNP A A C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 11 88300954 88300954 A C SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.1897 p.F633V 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 tier1 - - 58 0 0.00 26 24 48.00 120 0 0.00 47 39 45.35 ENSG00000270540 0 genome.wustl.edu 37 2 237276995 237276995 + R SNP G G A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 2 237276995 237276995 G A SNP ENSG00000270540 ENST00000605740 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-785G17.1 Clone_based_vega_gene ENSG00000270540 tier1 - - 40 0 0.00 8 19 70.37 91 1 1.09 22 36 62.07 GPR98 0 genome.wustl.edu 37 5 89990459 89990459 + Missense_Mutation SNP G G A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 5 89990459 89990459 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.7886 p.G2629E 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 46 0 0.00 34 14 29.17 120 0 0.00 76 26 25.49 ENSG00000235837 0 genome.wustl.edu 37 7 16737659 16737659 + R SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 7 16737659 16737659 C T SNP ENSG00000235837 ENST00000418907 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC073333.8 Clone_based_vega_gene ENSG00000235837 tier1 - - 35 0 0.00 18 8 30.77 73 0 0.00 34 28 44.44 TP53 0 genome.wustl.edu 37 17 7578204 7578204 + Missense_Mutation SNP A A C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 17 7578204 7578204 A C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.645 p.S215R 0.959 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor 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 - - 66 0 0.00 16 45 72.58 120 0 0.00 23 48 67.61 CDON 0 genome.wustl.edu 37 11 125867223 125867223 + Silent SNP C C G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 11 125867223 125867223 C G SNP CDON ENST00000392693 human ensembl 74_37 -1 known silent c.2241 p.G747 0.953 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CDON HGNC ENSG00000064309 tier1 - - 118 0 0.00 44 27 38.03 89 0 0.00 48 12 20.00 FGG 0 genome.wustl.edu 37 4 155526029 155526029 + Missense_Mutation SNP G G A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 4 155526029 155526029 G A SNP FGG ENST00000336098 human ensembl 74_37 -1 known missense c.1319 p.A440V 0.000 NULL pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGG HGNC ENSG00000171557 tier1 rs141597421 - 76 0 0.00 75 14 15.73 118 0 0.00 126 20 13.70 YME1L1 0 genome.wustl.edu 37 10 27403538 27403538 + Splice_Site SNP T T C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 10 27403538 27403538 T C SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known splice_site c.2092-2 e19-2 1.000 - - - no_errors YME1L1 HGNC ENSG00000136758 tier1 - - 67 0 0.00 38 7 15.56 153 0 0.00 71 11 13.25 ZZZ3 0 genome.wustl.edu 37 1 78031848 78031848 + Missense_Mutation SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 1 78031848 78031848 C T SNP ZZZ3 ENST00000370801 human ensembl 74_37 -1 known missense c.2485 p.E829K 1.000 pfam_Znf_ZZ,pfscan_Znf_ZZ pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 tier1 - - 113 0 0.00 107 18 14.40 92 0 0.00 103 29 21.97 SSH3 0 genome.wustl.edu 37 11 67075346 67075346 + Missense_Mutation SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 11 67075346 67075346 C T SNP SSH3 ENST00000308127 human ensembl 74_37 +1 known missense c.821 p.A274V 0.969 pfam_DEK_C pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 tier1 - - 52 0 0.00 47 17 26.56 70 0 0.00 63 24 27.59 KIF1A 0 genome.wustl.edu 37 2 241700664 241700664 + Missense_Mutation SNP G G C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 2 241700664 241700664 G C SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.2247 p.S749R 0.996 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 20 0 0.00 6 20 76.92 61 0 0.00 18 30 62.50 SYNM 0 genome.wustl.edu 37 15 99670639 99670639 + Silent SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 15 99670639 99670639 C T SNP SYNM ENST00000336292 human ensembl 74_37 +1 known silent c.2071 p.L691 0.502 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 tier1 - - 28 0 0.00 3 7 70.00 144 0 0.00 30 22 42.31 DAZL 0 genome.wustl.edu 37 3 16638396 16638396 + Missense_Mutation SNP C C A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 3 16638396 16638396 C A SNP DAZL ENST00000399444 human ensembl 74_37 -1 known missense c.359 p.C120F 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZL HGNC ENSG00000092345 tier1 - - 231 0 0.00 143 114 44.36 79 0 0.00 52 24 31.58 PKHD1L1 0 genome.wustl.edu 37 8 110516561 110516561 + Missense_Mutation SNP A A C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 8 110516561 110516561 A C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.10834 p.T3612P 0.996 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 66 0 0.00 24 12 33.33 87 0 0.00 55 19 25.68 GPAA1 0 genome.wustl.edu 37 8 145139735 145139735 + Missense_Mutation SNP A A G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 8 145139735 145139735 A G SNP GPAA1 ENST00000355091 human ensembl 74_37 +1 known missense c.1121 p.Y374C 1.000 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 tier1 - - 30 0 0.00 26 8 23.53 61 0 0.00 43 17 28.33 SLC26A9 0 genome.wustl.edu 37 1 205892290 205892290 + Missense_Mutation SNP T T G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 1 205892290 205892290 T G SNP SLC26A9 ENST00000340781 human ensembl 74_37 -1 known missense c.1693 p.K565Q 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 tier1 - - 51 0 0.00 10 15 60.00 69 0 0.00 10 34 77.27 ZZZ3 0 genome.wustl.edu 37 1 78031803 78031803 + Missense_Mutation SNP C C G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 1 78031803 78031803 C G SNP ZZZ3 ENST00000370801 human ensembl 74_37 -1 known missense c.2530 p.E844Q 1.000 pfam_Znf_ZZ,pfscan_Znf_ZZ pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 tier1 - - 101 0 0.00 97 18 15.52 103 0 0.00 102 37 26.62 CHR4 0 genome.wustl.edu 37 20 61982044 61982044 + Missense_Mutation SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 20 61982044 61982044 C T SNP CHR4 ENST00000370263 human ensembl 74_37 -1 known missense c.719 p.R240Q 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHR4 HGNC ENSG00000101204 tier1 rs78695425 - 27 0 0.00 17 10 37.04 20 0 0.00 22 3 12.00 ZZZ3 0 genome.wustl.edu 37 1 78030187 78030187 + R SNP C C G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 1 78030187 78030187 C G SNP ZZZ3 ENST00000481346 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZZZ3 HGNC ENSG00000036549 tier1 - - 55 0 0.00 37 12 24.49 88 0 0.00 79 27 25.47 KLC3 0 genome.wustl.edu 37 19 45851923 45851923 + Missense_Mutation SNP G G A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 19 45851923 45851923 G A SNP KLC3 ENST00000470402 human ensembl 74_37 +1 known missense c.841 p.E281K 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC3 HGNC ENSG00000104892 tier1 - - 81 0 0.00 74 30 28.85 70 0 0.00 69 22 24.18 WDR36 0 genome.wustl.edu 37 5 110438084 110438084 + Missense_Mutation SNP A A G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 5 110438084 110438084 A G SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.751 p.T251A 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 tier1 - - 140 0 0.00 89 29 24.58 112 0 0.00 53 27 33.75 MYRIP 0 genome.wustl.edu 37 3 40231809 40231809 + Missense_Mutation SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 3 40231809 40231809 C T SNP MYRIP ENST00000302541 human ensembl 74_37 +1 known missense c.1520 p.T507I 1.000 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MYRIP HGNC ENSG00000170011 tier1 - - 24 0 0.00 23 20 46.51 23 0 0.00 24 9 27.27 CDK5RAP3 0 genome.wustl.edu 37 17 46058946 46058946 + R SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 17 46058946 46058946 C T SNP CDK5RAP3 ENST00000578663 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK5RAP3 HGNC ENSG00000108465 tier1 - - 50 0 0.00 34 12 26.09 70 0 0.00 23 12 34.29 CCKBR 0 genome.wustl.edu 37 11 6292222 6292222 + Missense_Mutation SNP G G A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 11 6292222 6292222 G A SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.1000 p.A334T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 tier1 rs200830731 - 44 0 0.00 14 11 44.00 45 0 0.00 21 14 40.00 AKR1CL1 0 genome.wustl.edu 37 10 5199959 5199959 + Missense_Mutation SNP C C G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 10 5199959 5199959 C G SNP AKR1CL1 ENST00000473890 human ensembl 74_37 -1 novel missense c.207 p.L69F 0.000 pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1CL1 HGNC ENSG00000196326 tier1 - - 83 0 0.00 69 12 14.81 61 0 0.00 45 15 25.00 SORBS1 0 genome.wustl.edu 37 10 97131754 97131754 + Missense_Mutation SNP C C G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 10 97131754 97131754 C G SNP SORBS1 ENST00000361941 human ensembl 74_37 -1 known missense c.1790 p.R597T 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 tier1 - - 42 0 0.00 15 13 46.43 87 0 0.00 28 23 45.10 BLNK 0 genome.wustl.edu 37 10 97951794 97951794 + Missense_Mutation SNP G G C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 10 97951794 97951794 G C SNP BLNK ENST00000224337 human ensembl 74_37 -1 known missense c.1306 p.L436V 1.000 pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 tier1 - - 102 0 0.00 49 15 23.44 123 0 0.00 59 9 13.24 ANKRD18A 0 genome.wustl.edu 37 9 38596278 38596278 + Missense_Mutation SNP C C G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 9 38596278 38596278 C G SNP ANKRD18A ENST00000399703 human ensembl 74_37 -1 known missense c.1059 p.K353N 0.809 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18A HGNC ENSG00000180071 tier1 - - 49 0 0.00 40 24 37.50 23 0 0.00 11 3 21.43 AGAP3 0 genome.wustl.edu 37 7 150784064 150784064 + Missense_Mutation SNP T T A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 7 150784064 150784064 T A SNP AGAP3 ENST00000397238 human ensembl 74_37 +1 known missense c.236 p.V79E 1.000 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 tier1 - - 38 0 0.00 11 4 26.67 27 0 0.00 20 9 31.03 DAGLA 0 genome.wustl.edu 37 11 61508747 61508747 + Silent SNP C C G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 11 61508747 61508747 C G SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known silent c.2097 p.L699 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 tier1 - - 41 0 0.00 58 29 33.33 13 0 0.00 14 3 17.65 BCAS3 0 genome.wustl.edu 37 17 59104259 59104260 + Frame_Shift_Ins INS - - A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 17 59104259 59104260 - A INS BCAS3 ENST00000390652 human ensembl 74_37 +1 known frame_shift_ins c.1670_1671 p.A559fs 1.000:1.000 pfam_BCAS3 pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 tier1 110 0 0.00 34 17 33.33 117 0 0.00 54 23 29.87 ZNF234 0 genome.wustl.edu 37 19 44661690 44661691 + Frame_Shift_Del DEL AG AG - TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 AG AG AG - AG AG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 19 44661690 44661691 AG - DEL ZNF234 ENST00000426739 human ensembl 74_37 +1 known frame_shift_del c.1521_1522 p.K510fs 0.360:0.998 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 ZNF234 HGNC ENSG00000263002 tier1 83 0 0.00 83 34 29.06 26 0 0.00 32 5 13.51 CSPG4 0 genome.wustl.edu 37 15 75979836 75979836 + Missense_Mutation SNP C C G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 15 75979836 75979836 C G SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.3570 p.Q1190H 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 tier1 - - 99 0 0.00 38 47 55.29 22 0 0.00 6 8 57.14 JPH2 0 genome.wustl.edu 37 20 42789014 42789014 + Missense_Mutation SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 20 42789014 42789014 C T SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known missense c.413 p.R138H 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 tier1 - - 76 0 0.00 32 56 63.64 10 0 0.00 3 7 70.00 NOBOX 0 genome.wustl.edu 37 7 144096231 144096231 + Silent SNP G G A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 7 144096231 144096231 G A SNP NOBOX ENST00000467773 human ensembl 74_37 -1 known silent c.1281 p.P427 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 tier1 - - 89 0 0.00 43 61 58.65 9 0 0.00 0 4 100.00 NUDT10 0 genome.wustl.edu 37 X 51075934 51075934 + Silent SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb X 51075934 51075934 C T SNP NUDT10 ENST00000356450 human ensembl 74_37 +1 known silent c.117 p.S39 0.980 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC ENSG00000122824 tier1 - - 153 0 0.00 29 110 78.57 34 0 0.00 7 22 75.86 PRDM16 0 genome.wustl.edu 37 1 3328332 3328332 + Missense_Mutation SNP C C A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 1 3328332 3328332 C A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.1571 p.P524H 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 tier1 - - 74 0 0.00 13 41 75.93 23 0 0.00 1 13 86.67 TH 0 genome.wustl.edu 37 11 2189744 2189744 + Missense_Mutation SNP A A C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 11 2189744 2189744 A C SNP TH ENST00000381178 human ensembl 74_37 -1 known missense c.557 p.V186G 0.999 pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 tier1 - - 40 0 0.00 7 14 66.67 23 0 0.00 6 16 72.73 BLNK 0 genome.wustl.edu 37 10 97951812 97951812 + Nonsense_Mutation SNP G G A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 10 97951812 97951812 G A SNP BLNK ENST00000224337 human ensembl 74_37 -1 known nonsense c.1288 p.Q430* 1.000 smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 tier1 - - 105 0 0.00 48 14 22.58 125 0 0.00 58 6 9.38 LRRC30 0 genome.wustl.edu 37 18 7231877 7231877 + Silent SNP C C A TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 18 7231877 7231877 C A SNP LRRC30 ENST00000383467 human ensembl 74_37 +1 known silent c.741 p.L247 0.196 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 tier1 - - 49 0 0.00 33 4 10.81 75 0 0.00 77 6 7.23 DGKG 0 genome.wustl.edu 37 3 185867916 185867916 + Missense_Mutation SNP A A G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 3 185867916 185867916 A G SNP DGKG ENST00000265022 human ensembl 74_37 -1 known missense c.2339 p.F780S 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 tier1 - - 44 0 0.00 33 14 29.79 72 0 0.00 66 7 9.59 TGM3 0 genome.wustl.edu 37 20 2298099 2298099 + Silent SNP A A G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 20 2298099 2298099 A G SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known silent c.951 p.G317 0.088 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 tier1 - - 75 0 0.00 47 6 11.32 111 0 0.00 101 9 8.18 AHK 0 genome.wustl.edu 37 11 62284533 62284534 + Frame_Shift_Del DEL CA CA - TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 CA CA CA - CA CA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 11 62284533 62284534 CA - DEL AHK ENST00000378024 human ensembl 74_37 -1 known frame_shift_del c.17356_17355 p.D5785fs 0.975:0.440 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK HGNC ENSG00000124942 tier1 37 0 0.00 15 9 37.50 81 0 0.00 73 4 5.19 UGT3A2 0 genome.wustl.edu 37 5 36039752 36039752 + Missense_Mutation SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 5 36039752 36039752 C T SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known missense c.902 p.G301D 0.999 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 tier1 - - 66 0 0.00 68 19 21.84 173 2 1.14 174 37 17.45 DPP6 0 genome.wustl.edu 37 7 154667715 154667715 + Silent SNP C C T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 7 154667715 154667715 C T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known silent c.1983 p.D661 0.989 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 tier1 - - 125 0 0.00 75 18 19.35 35 1 2.78 18 11 37.93 RBMS1 0 genome.wustl.edu 37 2 161130978 161130982 + R DEL TTTTC TTTTC - TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 TTTTC TTTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 2 161130978 161130982 TTTTC - DEL RBMS1 ENST00000474820 human ensembl 74_37 -1 known rna NULL NULL 0.008:0.121:0.138:0.129:0.057 - - - no_errors RBMS1 HGNC ENSG00000153250 tier1 31 0 0.00 6 0 0.00 31 0 0.00 6 0 0.00 RPL23AP79 0 genome.wustl.edu 37 19 59110563 59110563 + R SNP C C G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 19 59110563 59110563 C G SNP RPL23AP79 ENST00000473164 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPL23AP79 HGNC ENSG00000213753 tier1 - - 16 0 0.00 5 8 61.54 0 0 0.00 0 0 0.00 CSMD2 0 genome.wustl.edu 37 1 34401431 34401431 + Missense_Mutation SNP G G T TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 1 34401431 34401431 G T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.642 p.H214Q 0.971 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 CSMD2 HGNC ENSG00000121904 tier1 - - 35 0 0.00 28 4 12.50 25 0 0.00 43 2 4.44 AHK 0 genome.wustl.edu 37 11 62284538 62284571 + Frame_Shift_Del DEL CTGAATGAATTTGAGCGGTGCCGTGGCTTCTTAC CTGAATGAATTTGAGCGGTGCCGTGGCTTCTTAC - TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 CTGAATGAATTTGAGCGGTGCCGTGGCTTCTTAC CTGAATGAATTTGAGCGGTGCCGTGGCTTCTTAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde49939-fe43-4058-b143-4997914ebfe9 f92cf376-b51a-4720-bd93-faed5da32efb 11 62284538 62284571 CTGAATGAATTTGAGCGGTGCCGTGGCTTCTTAC - DEL AHK ENST00000378024 human ensembl 74_37 -1 known frame_shift_del c.17351_17318 p.S5773fs 0.998:1.000:1.000:1.000:0.996:0.924:0.938:0.929:0.002:0.000:0.000:0.000:0.970:0.982:0.960:0.999:1.000:1.000:0.995:0.929:0.283:0.192:0.069:0.024:0.956:0.961:1.000:1.000:1.000:0.992:0.992:0.893:0.822:0.918 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK HGNC ENSG00000124942 tier1 80 0 0.00 73 3 3.95 80 0 0.00 73 3 3.95