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 PTPN21 0 genome.wustl.edu 37 14 88963625 88963625 + Missense_Mutation SNP G G T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 14 88963625 88963625 G T SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.774 p.D258E 0.975 pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 tier1 - - 38 0 0.00 21 3 12.50 ADCY10 0 genome.wustl.edu 37 1 167863154 167863154 + Silent SNP C C T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 1 167863154 167863154 C T SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known silent c.765 p.L255 1.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 tier1 rs148864018 - 38 0 0.00 46 4 8.00 TP53TG5 0 genome.wustl.edu 37 20 44002615 44002615 + Missense_Mutation SNP T T C TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 20 44002615 44002615 T C SNP TP53TG5 ENST00000372726 human ensembl 74_37 -1 known missense c.805 p.R269G 0.001 NULL NULL - no_errors TP53TG5 HGNC ENSG00000124251 tier1 - - 45 0 0.00 49 11 18.33 SLIT3 0 genome.wustl.edu 37 5 168244435 168244435 + Silent SNP G G A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 5 168244435 168244435 G A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known silent c.663 p.C221 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 - - 23 0 0.00 20 4 16.67 MSLNL 0 genome.wustl.edu 37 16 822908 822908 + Silent SNP G G T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 16 822908 822908 G T SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known silent c.2277 p.A759 0.952 pfam_Mesothelin pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 tier1 - - 39 0 0.00 24 4 14.29 EFCAB4A 0 genome.wustl.edu 37 11 831640 831642 + In_Frame_Del DEL CTG CTG - TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 11 831640 831642 CTG - DEL EFCAB4A ENST00000525077 human ensembl 74_37 +1 novel in_frame_del c.1131_1133 p.C381in_frame_del 0.058:0.650:0.957 NULL pfscan_EF_hand_dom - no_errors EFCAB4A HGNC ENSG00000177685 tier1 24 0 0.00 54 6 10.00 FAM89B 0 genome.wustl.edu 37 11 65340914 65340914 + Missense_Mutation SNP G G T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 11 65340914 65340914 G T SNP FAM89B ENST00000449319 human ensembl 74_37 +1 known missense c.382 p.V128L 1.000 NULL NULL - no_errors FAM89B HGNC ENSG00000176973 tier1 - - 38 0 0.00 18 3 14.29 DH9 0 genome.wustl.edu 37 17 11593347 11593347 + Missense_Mutation SNP C C G TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 17 11593347 11593347 C G SNP DH9 ENST00000262442 human ensembl 74_37 +1 known missense c.4208 p.T1403S 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH9 HGNC ENSG00000007174 tier1 - - 30 0 0.00 54 21 28.00 CRMP1 0 genome.wustl.edu 37 4 5827596 5827623 + R DEL ACATCTACATACCCACATGCATACACAT ACATCTACATACCCACATGCATACACAT - TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 ACATCTACATACCCACATGCATACACAT ACATCTACATACCCACATGCATACACAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 4 5827596 5827623 ACATCTACATACCCACATGCATACACAT - DEL CRMP1 ENST00000513911 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.000:0.000:0.002:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors CRMP1 HGNC ENSG00000072832 tier1 PER2 0 genome.wustl.edu 37 2 239155060 239155060 + Missense_Mutation SNP C C T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 2 239155060 239155060 C T SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.3724 p.E1242K 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 tier1 - - 56 0 0.00 18 23 56.10 DCP2 0 genome.wustl.edu 37 5 112337295 112337295 + Missense_Mutation SNP G G T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 5 112337295 112337295 G T SNP DCP2 ENST00000389063 human ensembl 74_37 +1 known missense c.730 p.G244C 1.000 NULL pfam_mR_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors DCP2 HGNC ENSG00000172795 tier1 - - 40 0 0.00 19 11 36.67 AK 0 genome.wustl.edu 37 9 117107941 117107942 + R INS - - TGAATGAATGAA TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 9 117107941 117107942 - TGAATGAATGAA INS AK ENST00000492875 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.007 - - - no_errors AK HGNC ENSG00000106948 tier1 SLC6A10P 0 genome.wustl.edu 37 16 32888946 32888946 + R SNP C C T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 16 32888946 32888946 C T SNP SLC6A10P ENST00000330048 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC6A10P HGNC ENSG00000214617 tier1 - - 67 0 0.00 109 13 10.66 OR2G6 0 genome.wustl.edu 37 1 248685143 248685143 + Missense_Mutation SNP C C T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 1 248685143 248685143 C T SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.196 p.L66F 0.697 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 tier1 - - 49 0 0.00 12 22 64.71 KDM3A 0 genome.wustl.edu 37 2 86705389 86705389 + Splice_Site SNP G G T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 2 86705389 86705389 G T SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known splice_site c.2188+1 e13+1 1.000 - - - no_errors KDM3A HGNC ENSG00000115548 tier1 - - 32 0 0.00 20 4 16.67 COL17A1 0 genome.wustl.edu 37 10 105836073 105836073 + Missense_Mutation SNP C C T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 10 105836073 105836073 C T SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.317 p.R106H 1.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 tier1 - - 72 0 0.00 23 30 56.60 ZNF90 0 genome.wustl.edu 37 19 20190747 20190747 + R DEL T T - TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 19 20190747 20190747 T - DEL ZNF90 ENST00000492328 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF90 HGNC ENSG00000213988 tier1 16 0 0.00 15 2 11.76 DYRK4 0 genome.wustl.edu 37 12 4714197 4714197 + Missense_Mutation SNP G G T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 12 4714197 4714197 G T SNP DYRK4 ENST00000010132 human ensembl 74_37 +1 known missense c.899 p.G300V 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK4 HGNC ENSG00000010219 tier1 - - 41 0 0.00 33 4 10.81 SEMA6D 0 genome.wustl.edu 37 15 48057148 48057148 + Missense_Mutation SNP T T C TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 15 48057148 48057148 T C SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.1322 p.V441A 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 tier1 - - 43 0 0.00 13 13 50.00 ATP1A2 0 genome.wustl.edu 37 1 160111084 160111084 + Missense_Mutation SNP G G T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 1 160111084 160111084 G T SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.3035 p.G1012V 1.000 tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 tier1 - - 24 0 0.00 37 19 33.93 CGREF1 0 genome.wustl.edu 37 2 27324340 27324340 + Silent SNP G G A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 2 27324340 27324340 G A SNP CGREF1 ENST00000312734 human ensembl 74_37 -1 known silent c.759 p.P253 0.000 NULL pfscan_EF_hand_dom - no_errors CGREF1 HGNC ENSG00000138028 tier1 rs11893427 - 14 0 0.00 18 6 25.00 MROH2B 0 genome.wustl.edu 37 5 41038986 41038986 + Missense_Mutation SNP A A T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 5 41038986 41038986 A T SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.2066 p.L689H 0.212 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 14 0 0.00 13 8 38.10 SEL1L 0 genome.wustl.edu 37 14 81970568 81970568 + Missense_Mutation SNP G G T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 14 81970568 81970568 G T SNP SEL1L ENST00000336735 human ensembl 74_37 -1 known missense c.591 p.S197R 1.000 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd - no_errors SEL1L HGNC ENSG00000071537 tier1 - - 55 0 0.00 46 4 8.00 ZNF521 0 genome.wustl.edu 37 18 22807082 22807082 + Missense_Mutation SNP T T C TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 18 22807082 22807082 T C SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.800 p.E267G 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 77 0 0.00 24 43 63.24 ABHD6 0 genome.wustl.edu 37 3 58280112 58280112 + R SNP A A G TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 3 58280112 58280112 A G SNP ABHD6 ENST00000480457 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ABHD6 HGNC ENSG00000163686 tier1 - - 56 0 0.00 37 4 9.76 ENSG00000226145 0 genome.wustl.edu 37 17 16722271 16722271 + R SNP T T A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 17 16722271 16722271 T A SNP ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 tier1 - - 66 0 0.00 87 30 25.64 PRSS55 0 genome.wustl.edu 37 8 10383240 10383240 + Missense_Mutation SNP C C A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 8 10383240 10383240 C A SNP PRSS55 ENST00000328655 human ensembl 74_37 +1 known missense c.145 p.P49T 0.001 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS55 HGNC ENSG00000184647 tier1 - - 31 0 0.00 17 11 39.29 TDRG1 0 genome.wustl.edu 37 6 40347042 40347042 + R SNP A A T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 6 40347042 40347042 A T SNP TDRG1 ENST00000373170 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TDRG1 HGNC ENSG00000204091 tier1 - - 48 0 0.00 23 18 43.90 HDAC9 0 genome.wustl.edu 37 7 18630036 18630036 + Silent SNP A A G TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 7 18630036 18630036 A G SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known silent c.342 p.Q114 1.000 pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 tier1 - - 50 0 0.00 37 23 38.33 ELN 0 genome.wustl.edu 37 7 73442538 73442538 + Silent SNP G G A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 7 73442538 73442538 G A SNP ELN ENST00000358929 human ensembl 74_37 +1 known silent c.21 p.A7 0.040 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 tier1 - - 80 0 0.00 28 46 62.16 EIF1AX 0 genome.wustl.edu 37 X 20156712 20156712 + Silent SNP A A G TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 X 20156712 20156712 A G SNP EIF1AX ENST00000379607 human ensembl 74_37 -1 known silent c.45 p.G15 1.000 superfamily_-bd_OB-fold,tigrfam_TIF_eIF-1A pfam_R-binding_domain_S1_IF1,superfamily_-bd_OB-fold,smart_TIF_eIF-1A,pfscan_R-binding_domain_S1_IF1,tigrfam_TIF_eIF-1A - no_errors EIF1AX HGNC ENSG00000173674 tier1 - - 100 0 0.00 81 37 31.36 ENSG00000272231 0 genome.wustl.edu 37 12 74293700 74293707 + R DEL ACACACAC ACACACAC - TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 ACACACAC ACACACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 12 74293700 74293707 ACACACAC - DEL ENSG00000272231 ENST00000606199 human ensembl 74_37 +1 novel rna NULL NULL 0.011:0.011:0.017:0.021:0.026:0.029:0.033:0.036 - - - no_errors AC136188.1 Clone_based_ensembl_gene ENSG00000272231 tier1 MX1 0 genome.wustl.edu 37 21 42807952 42807952 + Silent SNP C C G TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 21 42807952 42807952 C G SNP MX1 ENST00000398598 human ensembl 74_37 +1 known silent c.294 p.G98 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX1 HGNC ENSG00000157601 tier1 - - 29 0 0.00 24 13 35.14 C7orf10 0 genome.wustl.edu 37 7 40356428 40356428 + Missense_Mutation SNP G G T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 7 40356428 40356428 G T SNP C7orf10 ENST00000309930 human ensembl 74_37 +1 known missense c.811 p.A271S 1.000 pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors C7orf10 HGNC ENSG00000175600 tier1 - - 42 0 0.00 42 4 8.70 TMEM191C 0 genome.wustl.edu 37 22 21822373 21822385 + R DEL AGGATCCGGGGGT AGGATCCGGGGGT - TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 AGGATCCGGGGGT AGGATCCGGGGGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 22 21822373 21822385 AGGATCCGGGGGT - DEL TMEM191C ENST00000449424 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.005:0.001:0.001:0.002:0.003:0.000:0.000:0.000:0.057:0.077:0.000:0.000 - - - no_errors TMEM191C HGNC ENSG00000206140 tier1 INTS1 0 genome.wustl.edu 37 7 1535871 1535871 + Silent SNP G G T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 7 1535871 1535871 G T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.2016 p.V672 0.985 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 tier1 - - 52 0 0.00 42 4 8.70 SLC17A3 0 genome.wustl.edu 37 6 25862063 25862063 + Silent SNP G G A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 6 25862063 25862063 G A SNP SLC17A3 ENST00000397060 human ensembl 74_37 -1 known silent c.498 p.V166 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 tier1 - - 41 0 0.00 34 15 30.61 PFKFB2 0 genome.wustl.edu 37 1 207243688 207243688 + Missense_Mutation SNP G G T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 1 207243688 207243688 G T SNP PFKFB2 ENST00000367080 human ensembl 74_37 +1 known missense c.1156 p.V386F 0.996 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB2 HGNC ENSG00000123836 tier1 - - 28 0 0.00 14 3 17.65 OSBPL1A 0 genome.wustl.edu 37 18 21892054 21892054 + Missense_Mutation SNP A A G TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 18 21892054 21892054 A G SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known missense c.986 p.I329T 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 tier1 - - 39 0 0.00 5 33 86.84 TTC17 0 genome.wustl.edu 37 11 43464991 43464991 + Missense_Mutation SNP G G C TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 11 43464991 43464991 G C SNP TTC17 ENST00000039989 human ensembl 74_37 +1 known missense c.2368 p.G790R 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 tier1 - - 75 0 0.00 18 56 75.68 NUDT1 0 genome.wustl.edu 37 7 2289570 2289570 + Missense_Mutation SNP G G C TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 7 2289570 2289570 G C SNP NUDT1 ENST00000343985 human ensembl 74_37 +1 known missense c.300 p.E100D 0.011 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase,prints_Nudix_hydrolase - no_errors NUDT1 HGNC ENSG00000106268 tier1 - - 21 0 0.00 7 23 76.67 DCAF8L2 0 genome.wustl.edu 37 X 27765205 27765205 + Missense_Mutation SNP G G A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 X 27765205 27765205 G A SNP DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known missense c.193 p.D65N 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 tier1 - - 62 0 0.00 35 13 27.08 FBN2 0 genome.wustl.edu 37 5 127610308 127610308 + Missense_Mutation SNP A A T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 5 127610308 127610308 A T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.7662 p.F2554L 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 43 0 0.00 45 28 38.36 CLVS2 0 genome.wustl.edu 37 6 123376999 123376999 + Missense_Mutation SNP C C G TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 6 123376999 123376999 C G SNP CLVS2 ENST00000275162 human ensembl 74_37 +1 known missense c.724 p.P242A 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC ENSG00000146352 tier1 - - 27 0 0.00 33 13 28.26 TTC26 0 genome.wustl.edu 37 7 138865918 138865918 + Missense_Mutation SNP C C A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 7 138865918 138865918 C A SNP TTC26 ENST00000464848 human ensembl 74_37 +1 known missense c.1393 p.Q465K 1.000 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC26 HGNC ENSG00000105948 tier1 - - 38 0 0.00 12 11 47.83 DH10 0 genome.wustl.edu 37 12 124409668 124409668 + Silent SNP G G A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 12 124409668 124409668 G A SNP DH10 ENST00000409039 human ensembl 74_37 +1 known silent c.11484 p.Q3828 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DH10 HGNC ENSG00000197653 tier1 - - 107 0 0.00 81 45 35.71 SMG5 0 genome.wustl.edu 37 1 156230411 156230411 + Missense_Mutation SNP G G A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 1 156230411 156230411 G A SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.2114 p.A705V 0.963 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 tier1 - - 27 0 0.00 34 5 12.82 NPLOC4 0 genome.wustl.edu 37 17 79580153 79580154 + Splice_Site INS - - AAA TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 17 79580153 79580154 - AAA INS NPLOC4 ENST00000571562 human ensembl 74_37 -1 known splice_site_ins c.NULL NULL 0.011:0.010 - - - no_errors NPLOC4 HGNC ENSG00000182446 tier1 9 0 0.00 7 3 30.00 KLLN 0 genome.wustl.edu 37 10 89621940 89621940 + Missense_Mutation SNP C C T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 10 89621940 89621940 C T SNP KLLN ENST00000445946 human ensembl 74_37 -1 known missense c.305 p.R102Q 0.000 NULL NULL - no_errors KLLN HGNC ENSG00000227268 tier1 - - 51 0 0.00 16 11 40.74 FOXD3 0 genome.wustl.edu 37 1 63788984 63788995 + In_Frame_Del DEL GGCCGGAGCCGG GGCCGGAGCCGG - TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 GGCCGGAGCCGG GGCCGGAGCCGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 1 63788984 63788995 GGCCGGAGCCGG - DEL FOXD3 ENST00000371116 human ensembl 74_37 +1 known in_frame_del c.255_266 p.AGAG88in_frame_del 0.833:0.408:0.422:0.421:0.968:0.982:0.968:1.000:1.000:1.000:1.000:0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXD3 HGNC ENSG00000187140 tier1 AACS 0 genome.wustl.edu 37 12 125609312 125609312 + Missense_Mutation SNP C C T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 12 125609312 125609312 C T SNP AACS ENST00000316519 human ensembl 74_37 +1 known missense c.1183 p.P395S 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 tier1 - - 50 0 0.00 44 25 36.23 ACLY 0 genome.wustl.edu 37 17 40025733 40025733 + Silent SNP G G C TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 17 40025733 40025733 G C SNP ACLY ENST00000352035 human ensembl 74_37 -1 known silent c.3045 p.T1015 0.903 pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 tier1 - - 40 0 0.00 19 11 36.67 SNX6 0 genome.wustl.edu 37 14 35074802 35074802 + Missense_Mutation SNP G G T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 14 35074802 35074802 G T SNP SNX6 ENST00000362031 human ensembl 74_37 -1 known missense c.428 p.A143D 1.000 pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX6 HGNC ENSG00000129515 tier1 - - 31 0 0.00 38 4 9.52 NWD1 0 genome.wustl.edu 37 19 16861027 16861027 + Missense_Mutation SNP C C T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 19 16861027 16861027 C T SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.1574 p.A525V 1.000 superfamily_P-loop_NTPase pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 tier1 - - 76 0 0.00 59 28 32.18 MBP 0 genome.wustl.edu 37 18 74701989 74701989 + Missense_Mutation SNP G G C TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 18 74701989 74701989 G C SNP MBP ENST00000355994 human ensembl 74_37 -1 known missense c.604 p.H202D 0.310 pfam_Myelin_BP pfam_Myelin_BP,prints_Myelin_BP - no_errors MBP HGNC ENSG00000197971 tier1 - - 35 0 0.00 37 8 17.78 COL18A1 0 genome.wustl.edu 37 21 46924417 46924434 + In_Frame_Del DEL GGCCCCCCCGGCCCCCCA GGCCCCCCCGGCCCCCCA - TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 GGCCCCCCCGGCCCCCCA GGCCCCCCCGGCCCCCCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 21 46924417 46924434 GGCCCCCCCGGCCCCCCA - DEL COL18A1 ENST00000359759 human ensembl 74_37 +1 known in_frame_del c.4060_4077 p.GPPGPP1357in_frame_del 0.865:0.877:0.309:0.348:0.431:0.420:0.400:0.361:0.198:0.307:0.391:0.336:0.964:0.952:0.917:0.918:0.919:0.837 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 FIZ1 0 genome.wustl.edu 37 19 56108990 56108990 + Missense_Mutation SNP C C T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 19 56108990 56108990 C T SNP FIZ1 ENST00000221665 human ensembl 74_37 -1 known missense c.242 p.C81Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FIZ1 HGNC ENSG00000179943 tier1 - - 45 0 0.00 36 9 19.57 LOC729020 0 genome.wustl.edu 37 10 105006438 105006438 + Nonstop_Mutation SNP T T A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 10 105006438 105006438 T A SNP LOC729020 ENST00000441178 human ensembl 74_37 +1 putative nonstop c.685 p.*229R 1.000 NULL pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel - no_errors RP11-332O19.5 Clone_based_vega_gene ENSG00000235376 tier1 - - 56 0 0.00 20 20 50.00 TSC2 0 genome.wustl.edu 37 16 2115569 2115596 + Frame_Shift_Del DEL TGGCCGCATACTCGGCCTCCTTGGAGGA TGGCCGCATACTCGGCCTCCTTGGAGGA - TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 TGGCCGCATACTCGGCCTCCTTGGAGGA TGGCCGCATACTCGGCCTCCTTGGAGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 16 2115569 2115596 TGGCCGCATACTCGGCCTCCTTGGAGGA - DEL TSC2 ENST00000219476 human ensembl 74_37 +1 known frame_shift_del c.1649_1676 p.A551fs 0.000:0.000:0.000:0.000:0.000:0.002:0.002:0.000:0.025:0.726:0.836:0.931:0.931:0.685:0.981:1.000:0.997:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:1.000:0.989 superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 tier1 TRAF2 0 genome.wustl.edu 37 9 139793212 139793212 + Frame_Shift_Del DEL C C - TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 9 139793212 139793212 C - DEL TRAF2 ENST00000359662 human ensembl 74_37 +1 known frame_shift_del c.20 p.P9fs 1.000 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF2 HGNC ENSG00000127191 tier1 37 0 0.00 40 4 9.09 OR5J2 0 genome.wustl.edu 37 11 55944513 55944513 + Silent SNP G G A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 11 55944513 55944513 G A SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known silent c.420 p.K140 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 tier1 - - 21 0 0.00 5 7 58.33 ATRX 0 genome.wustl.edu 37 X 76938331 76938331 + Frame_Shift_Del DEL T T - TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 X 76938331 76938331 T - DEL ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_del c.2417 p.K806fs 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 93 0 0.00 28 33 54.10 RALYL 0 genome.wustl.edu 37 8 85785593 85785593 + Missense_Mutation SNP C C T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 8 85785593 85785593 C T SNP RALYL ENST00000521268 human ensembl 74_37 +1 known missense c.646 p.R216C 0.999 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 tier1 - - 57 0 0.00 10 21 67.74 PREX1 0 genome.wustl.edu 37 20 47271871 47271871 + Missense_Mutation SNP C C A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 20 47271871 47271871 C A SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.2166 p.Q722H 1.000 superfamily_PDZ,smart_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 tier1 - - 58 0 0.00 54 25 31.65 FASN 0 genome.wustl.edu 37 17 80042159 80042159 + Missense_Mutation SNP T T A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 17 80042159 80042159 T A SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.4870 p.T1624S 1.000 superfamily_GroES-like,smart_PKS_ER pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 - - 18 0 0.00 8 6 42.86 NBEA 0 genome.wustl.edu 37 13 36223860 36223860 + Silent SNP G G A TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 13 36223860 36223860 G A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known silent c.7776 p.K2592 1.000 NULL 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,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 42 0 0.00 28 22 44.00 C10orf107 0 genome.wustl.edu 37 10 63445876 63445876 + Nonsense_Mutation SNP A A T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 10 63445876 63445876 A T SNP C10orf107 ENST00000330194 human ensembl 74_37 +1 known nonsense c.148 p.K50* 0.140 NULL NULL - no_errors C10orf107 HGNC ENSG00000183346 tier1 - - 127 0 0.00 76 44 36.67 GALNT14 0 genome.wustl.edu 37 2 31167809 31167809 + Splice_Site SNP C C T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 2 31167809 31167809 C T SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known splice_site c.743-1 e8-1 1.000 - - - no_errors GALNT14 HGNC ENSG00000158089 tier1 - - 29 0 0.00 26 4 13.33 CCDC43 0 genome.wustl.edu 37 17 42759385 42759385 + Silent SNP C C G TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 17 42759385 42759385 C G SNP CCDC43 ENST00000315286 human ensembl 74_37 -1 known silent c.414 p.V138 1.000 NULL NULL - no_errors CCDC43 HGNC ENSG00000180329 tier1 - - 43 0 0.00 48 19 28.36 MYRIP 0 genome.wustl.edu 37 3 40192545 40192545 + Silent SNP G G T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 3 40192545 40192545 G T SNP MYRIP ENST00000302541 human ensembl 74_37 +1 known silent c.339 p.L113 0.995 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MYRIP HGNC ENSG00000170011 tier1 - - 48 0 0.00 59 6 9.23 FIBCD1 0 genome.wustl.edu 37 9 133779388 133779388 + Missense_Mutation SNP A A T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 9 133779388 133779388 A T SNP FIBCD1 ENST00000253018 human ensembl 74_37 -1 known missense c.544 p.S182T 0.000 smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FIBCD1 HGNC ENSG00000130720 tier1 - - 105 0 0.00 76 52 40.31 CCDC141 0 genome.wustl.edu 37 2 179742829 179742829 + Silent SNP G G T TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 2 179742829 179742829 G T SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known silent c.1761 p.T587 0.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 tier1 - - 43 0 0.00 9 14 60.87 CES4A 0 genome.wustl.edu 37 16 67040651 67040651 + Frame_Shift_Del DEL T T - TCGA-QC-AA9N-01A-11D-A38Z-09 TCGA-QC-AA9N-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 e9c2fa7a-5612-4abd-b1fa-91d891f4f0a1 1727bafa-c06e-4501-9dfe-578c49796d73 16 67040651 67040651 T - DEL CES4A ENST00000326686 human ensembl 74_37 +1 known frame_shift_del c.1448 p.S484fs 0.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES4A HGNC ENSG00000172824 tier1 55 0 0.00 14 2 12.50