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 GSG2 0 genome.wustl.edu 37 17 3628705 3628705 + Missense_Mutation SNP A A T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 17 3628705 3628705 A T SNP GSG2 ENST00000325418 human ensembl 74_37 +1 known missense c.1476 p.E492D 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_DUF3635,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors GSG2 HGNC ENSG00000177602 tier1 - - 52 0 0.00 18 24 57.14 181 0 0.00 53 47 47.00 KIAA1841 0 genome.wustl.edu 37 2 61348536 61348536 + R SNP A A G TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 2 61348536 61348536 A G SNP KIAA1841 ENST00000488322 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KIAA1841 HGNC ENSG00000162929 tier1 - - 19 0 0.00 5 6 54.55 82 0 0.00 38 22 36.67 POC1B 0 genome.wustl.edu 37 12 89819150 89819150 + Missense_Mutation SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 12 89819150 89819150 C T SNP POC1B ENST00000313546 human ensembl 74_37 -1 known missense c.1120 p.E374K 0.027 NULL pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors POC1B HGNC ENSG00000139323 tier1 - - 44 0 0.00 29 24 45.28 101 0 0.00 55 33 37.50 ZAP70 0 genome.wustl.edu 37 2 98354224 98354224 + Missense_Mutation SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 2 98354224 98354224 G A SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known missense c.1487 p.R496H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 tier1 rs150631046 - 18 0 0.00 18 11 36.67 42 0 0.00 11 3 21.43 PRPF8 0 genome.wustl.edu 37 17 1584027 1584027 + Missense_Mutation SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 17 1584027 1584027 G A SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.1091 p.S364L 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snR-bd,pfam_PRO8NT,pfam_Prp8_U5-snR-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 tier1 - - 39 0 0.00 41 17 29.31 129 0 0.00 56 22 28.21 GPR37 0 genome.wustl.edu 37 7 124387397 124387397 + Missense_Mutation SNP C C A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 7 124387397 124387397 C A SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known missense c.1024 p.V342F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 tier1 - - 48 0 0.00 17 27 61.36 141 0 0.00 33 47 58.75 TSR1 0 genome.wustl.edu 37 17 2235463 2235463 + Missense_Mutation SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 17 2235463 2235463 C T SNP TSR1 ENST00000301364 human ensembl 74_37 -1 known missense c.1496 p.R499Q 1.000 pfam_BMS1_TSR1_C pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 tier1 - - 114 0 0.00 64 11 14.67 123 0 0.00 61 20 24.69 PCNT 0 genome.wustl.edu 37 21 47819574 47819574 + Missense_Mutation SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 21 47819574 47819574 C T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.4655 p.S1552L 0.515 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 - - 72 0 0.00 4 23 85.19 167 0 0.00 13 11 45.83 LNX2 0 genome.wustl.edu 37 13 28122567 28122567 + Missense_Mutation SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 13 28122567 28122567 C T SNP LNX2 ENST00000316334 human ensembl 74_37 -1 known missense c.1978 p.V660M 0.984 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC ENSG00000139517 tier1 rs35562382 - 59 0 0.00 15 19 55.88 144 0 0.00 34 19 35.85 MYH7 0 genome.wustl.edu 37 14 23900812 23900812 + Silent SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 14 23900812 23900812 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known silent c.714 p.N238 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 rs202141819 - 44 0 0.00 21 13 38.24 89 0 0.00 38 7 15.56 GOLGA1 0 genome.wustl.edu 37 9 127660878 127660878 + Nonsense_Mutation SNP C C A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 9 127660878 127660878 C A SNP GOLGA1 ENST00000373555 human ensembl 74_37 -1 known nonsense c.1357 p.E453* 1.000 NULL pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 tier1 - - 85 0 0.00 70 16 18.60 113 0 0.00 80 25 23.58 OSBP2 0 genome.wustl.edu 37 22 31266576 31266576 + Silent SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 22 31266576 31266576 C T SNP OSBP2 ENST00000332585 human ensembl 74_37 +1 known silent c.1014 p.D338 0.958 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_D-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 tier1 rs149092338 - 34 0 0.00 20 10 33.33 60 0 0.00 17 11 39.29 KIAA0556 0 genome.wustl.edu 37 16 27777745 27777745 + Missense_Mutation SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 16 27777745 27777745 G A SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known missense c.3925 p.G1309S 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 tier1 - - 30 0 0.00 31 8 20.51 56 0 0.00 46 12 20.34 ENSG00000267260 0 genome.wustl.edu 37 19 37266347 37266347 + Missense_Mutation SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 19 37266347 37266347 G A SNP ENSG00000267260 ENST00000590750 human ensembl 74_37 +1 putative missense c.193 p.A65T 0.013 NULL NULL - no_errors CTD-2162K18.4 Clone_based_vega_gene ENSG00000267260 tier1 - - 58 0 0.00 36 14 28.00 150 1 0.66 68 30 30.30 SPHKAP 0 genome.wustl.edu 37 2 228973608 228973608 + Silent SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 2 228973608 228973608 C T SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known silent c.186 p.Q62 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 64 0 0.00 35 5 12.50 60 0 0.00 22 4 15.38 DIAPH1 0 genome.wustl.edu 37 5 140914027 140914027 + R SNP T T C TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 5 140914027 140914027 T C SNP DIAPH1 ENST00000494967 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors DIAPH1 HGNC ENSG00000131504 tier1 - - 62 0 0.00 30 34 53.12 110 0 0.00 18 35 66.04 LOC101928102 0 genome.wustl.edu 37 9 44870104 44870104 + Nonstop_Mutation SNP A A C TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 9 44870104 44870104 A C SNP LOC101928102 ENST00000448436 human ensembl 74_37 +1 putative nonstop c.240 p.*80C 0.001 NULL NULL - no_errors RP11-160N1.10 Clone_based_vega_gene ENSG00000204814 tier1 - - 261 0 0.00 203 147 41.88 42 0 0.00 14 12 46.15 IQCF6 0 genome.wustl.edu 37 3 51812869 51812869 + Missense_Mutation SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 3 51812869 51812869 G A SNP IQCF6 ENST00000398780 human ensembl 74_37 -1 known missense c.94 p.R32W 0.964 superfamily_P-loop_NTPase pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF6 HGNC ENSG00000214686 tier1 - - 29 0 0.00 25 11 30.56 37 0 0.00 19 3 13.64 TMEM132C 0 genome.wustl.edu 37 12 129181946 129181946 + Missense_Mutation SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 12 129181946 129181946 C T SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.2107 p.R703W 0.998 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 rs201956806 - 27 0 0.00 17 6 26.09 43 0 0.00 23 5 17.86 SESTD1 0 genome.wustl.edu 37 2 180056558 180056558 + Missense_Mutation SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 2 180056558 180056558 G A SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known missense c.11 p.S4L 0.998 pfscan_CRAL-TRIO_dom superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 tier1 - - 140 1 0.71 185 1802 90.55 147 0 0.00 175 613 77.79 ZNF689 0 genome.wustl.edu 37 16 30620882 30620882 + Missense_Mutation SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 16 30620882 30620882 G A SNP ZNF689 ENST00000287461 human ensembl 74_37 -1 known missense c.283 p.P95S 0.999 pfscan_Krueppel-associated_box 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 ZNF689 HGNC ENSG00000156853 tier1 rs146699442 - 47 0 0.00 42 13 23.64 145 0 0.00 76 16 17.39 POLD1 0 genome.wustl.edu 37 19 50912024 50912024 + Silent SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 19 50912024 50912024 C T SNP POLD1 ENST00000595904 human ensembl 74_37 +1 novel silent c.1836 p.R612 0.000 smart_D-dir_D_pol_B pfam_D-dir_D_pol_B_multi_dom,pfam_D-dir_D_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_B,prints_D-dir_D_pol_B,tigrfam_D-dir_D_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 tier1 - - 33 0 0.00 15 9 37.50 15 0 0.00 16 7 30.43 OR10J3 0 genome.wustl.edu 37 1 159283694 159283694 + Silent SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 1 159283694 159283694 G A SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known silent c.756 p.H252 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 tier1 - - 25 0 0.00 18 21 53.85 67 0 0.00 42 42 50.00 ADAM6 0 genome.wustl.edu 37 14 106436914 106436914 + R SNP G G C TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 14 106436914 106436914 G C SNP ADAM6 ENST00000452053 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADAM6 HGNC ENSG00000233988 tier1 - - 34 0 0.00 56 7 11.11 27 0 0.00 24 6 20.00 SHOX2 0 genome.wustl.edu 37 3 157820521 157820521 + Silent SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 3 157820521 157820521 G A SNP SHOX2 ENST00000389589 human ensembl 74_37 -1 known silent c.573 p.A191 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX2 HGNC ENSG00000168779 tier1 - - 44 0 0.00 24 10 29.41 92 0 0.00 52 13 20.00 ST18 0 genome.wustl.edu 37 8 53073948 53073948 + Silent SNP T T C TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 8 53073948 53073948 T C SNP ST18 ENST00000276480 human ensembl 74_37 -1 known silent c.1581 p.P527 0.999 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 64 0 0.00 60 20 25.00 171 0 0.00 81 24 22.86 AQP4 0 genome.wustl.edu 37 18 24436335 24436335 + Missense_Mutation SNP T T C TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 18 24436335 24436335 T C SNP AQP4 ENST00000383168 human ensembl 74_37 -1 known missense c.812 p.Q271R 1.000 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP4 HGNC ENSG00000171885 tier1 - - 48 0 0.00 38 28 42.42 168 0 0.00 65 74 53.24 VMO1 0 genome.wustl.edu 37 17 4688744 4688744 + Silent SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 17 4688744 4688744 G A SNP VMO1 ENST00000328739 human ensembl 74_37 -1 known silent c.522 p.C174 0.918 pfam_VOMI,superfamily_VOMI pfam_VOMI,superfamily_VOMI - no_errors VMO1 HGNC ENSG00000182853 tier1 - - 75 0 0.00 44 16 26.67 50 0 0.00 31 6 16.22 CTDSPL2 0 genome.wustl.edu 37 15 44816508 44816508 + R SNP A A T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 15 44816508 44816508 A T SNP CTDSPL2 ENST00000559738 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors CTDSPL2 HGNC ENSG00000137770 tier1 - - 59 0 0.00 33 17 34.00 64 0 0.00 18 6 24.00 THSD7A 0 genome.wustl.edu 37 7 11446546 11446546 + Nonsense_Mutation SNP G G T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 7 11446546 11446546 G T SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known nonsense c.4053 p.C1351* 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 tier1 - - 41 0 0.00 47 12 20.34 98 0 0.00 87 15 14.71 SPATA31E1 0 genome.wustl.edu 37 9 90502475 90502475 + Missense_Mutation SNP C C A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 9 90502475 90502475 C A SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known missense c.3073 p.Q1025K 0.007 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 tier1 - - 59 0 0.00 53 19 26.39 48 0 0.00 22 7 24.14 THSD7A 0 genome.wustl.edu 37 7 11446555 11446555 + Missense_Mutation SNP C C G TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 7 11446555 11446555 C G SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.4044 p.W1348C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 tier1 - - 43 0 0.00 49 11 18.33 108 0 0.00 88 16 15.24 FBXO18 0 genome.wustl.edu 37 10 5979192 5979192 + Silent SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 10 5979192 5979192 G A SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known silent c.3234 p.V1078 0.011 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 tier1 - - 33 0 0.00 54 14 20.59 28 0 0.00 20 6 23.08 STK33 0 genome.wustl.edu 37 11 8476292 8476292 + Missense_Mutation SNP T T G TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 11 8476292 8476292 T G SNP STK33 ENST00000315204 human ensembl 74_37 -1 known missense c.785 p.K262T 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 STK33 HGNC ENSG00000130413 tier1 - - 70 0 0.00 38 26 40.62 147 0 0.00 36 54 60.00 FLNC 0 genome.wustl.edu 37 7 128490892 128490892 + Missense_Mutation SNP C C G TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 7 128490892 128490892 C G SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.5434 p.P1812A 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 - - 20 0 0.00 9 9 50.00 51 0 0.00 20 5 19.23 CYBB 0 genome.wustl.edu 37 X 37642769 37642769 + Silent SNP T T C TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b X 37642769 37642769 T C SNP CYBB ENST00000378588 human ensembl 74_37 +1 known silent c.168 p.P56 1.000 NULL pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 tier1 - - 42 0 0.00 35 6 14.63 60 0 0.00 38 5 11.63 C16orf62 0 genome.wustl.edu 37 16 19659138 19659138 + Silent SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 16 19659138 19659138 G A SNP C16orf62 ENST00000438132 human ensembl 74_37 +1 known silent c.2229 p.L743 0.976 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 tier1 - - 95 0 0.00 103 16 13.45 178 0 0.00 108 26 19.40 NTRK1 0 genome.wustl.edu 37 1 156837905 156837905 + Silent SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 1 156837905 156837905 G A SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known silent c.438 p.S146 0.018 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 tier1 - - 18 0 0.00 19 14 42.42 51 0 0.00 17 17 50.00 AXL 0 genome.wustl.edu 37 19 41758777 41758777 + Missense_Mutation SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 19 41758777 41758777 G A SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.1831 p.E611K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 tier1 - - 94 0 0.00 108 39 26.53 126 0 0.00 63 9 12.33 PRPF8 0 genome.wustl.edu 37 17 1584068 1584068 + Missense_Mutation SNP G G C TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 17 1584068 1584068 G C SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.1050 p.F350L 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snR-bd,pfam_PRO8NT,pfam_Prp8_U5-snR-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 tier1 - - 49 0 0.00 52 13 20.00 121 0 0.00 62 24 27.91 DH11 0 genome.wustl.edu 37 7 21600753 21600753 + Missense_Mutation SNP C C A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 7 21600753 21600753 C A SNP DH11 ENST00000328843 human ensembl 74_37 +1 known missense c.947 p.P316H 1.000 pfam_Dynein_heavy_dom-1 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 DH11 HGNC ENSG00000105877 tier1 - - 107 0 0.00 68 67 49.63 138 0 0.00 68 37 34.91 DCAF8L2 0 genome.wustl.edu 37 X 27765824 27765824 + Missense_Mutation SNP C C A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b X 27765824 27765824 C A SNP DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known missense c.812 p.T271K 0.069 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_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 DCAF8L2 HGNC ENSG00000189186 tier1 - - 46 0 0.00 51 11 17.74 156 0 0.00 76 22 22.45 BRINP2 0 genome.wustl.edu 37 1 177247899 177247899 + Missense_Mutation SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 1 177247899 177247899 C T SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known missense c.1213 p.R405C 0.997 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 tier1 - - 39 0 0.00 18 6 25.00 26 0 0.00 14 2 12.50 SESTD1 0 genome.wustl.edu 37 2 180056580 180056580 + R SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 2 180056580 180056580 G A SNP SESTD1 ENST00000486468 human ensembl 74_37 -1 known rna NULL NULL 0.155 - - - no_errors SESTD1 HGNC ENSG00000187231 tier1 - - 135 0 0.00 178 1580 89.82 147 0 0.00 179 595 76.58 TMEM237 0 genome.wustl.edu 37 2 202488979 202488979 + Silent SNP T T C TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 2 202488979 202488979 T C SNP TMEM237 ENST00000409883 human ensembl 74_37 -1 known silent c.1226 p.*409 0.373 NULL NULL - no_errors TMEM237 HGNC ENSG00000155755 tier1 - - 71 0 0.00 18 24 57.14 140 0 0.00 29 25 46.30 LRRC16B 0 genome.wustl.edu 37 14 24532356 24532356 + Missense_Mutation SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 14 24532356 24532356 C T SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.2734 p.R912C 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 tier1 - - 28 0 0.00 12 10 45.45 55 0 0.00 14 17 54.84 ABRA 0 genome.wustl.edu 37 8 107781809 107781809 + Missense_Mutation SNP G G C TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 8 107781809 107781809 G C SNP ABRA ENST00000311955 human ensembl 74_37 -1 known missense c.610 p.P204A 0.853 NULL NULL - no_errors ABRA HGNC ENSG00000174429 tier1 - - 24 0 0.00 23 22 48.89 90 0 0.00 47 57 54.81 ZNF331 0 genome.wustl.edu 37 19 54080308 54080308 + Missense_Mutation SNP A A T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 19 54080308 54080308 A T SNP ZNF331 ENST00000253144 human ensembl 74_37 +1 known missense c.494 p.K165M 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF331 HGNC ENSG00000130844 tier1 - - 68 0 0.00 33 15 31.25 116 0 0.00 49 20 28.99 PRPF8 0 genome.wustl.edu 37 17 1577107 1577107 + Missense_Mutation SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 17 1577107 1577107 C T SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.3379 p.G1127S 1.000 superfamily_Cupredoxin pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snR-bd,pfam_PRO8NT,pfam_Prp8_U5-snR-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 tier1 - - 67 0 0.00 41 15 26.79 123 0 0.00 40 24 37.50 POC1B 0 genome.wustl.edu 37 12 89818973 89818973 + Missense_Mutation SNP C C G TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 12 89818973 89818973 C G SNP POC1B ENST00000313546 human ensembl 74_37 -1 known missense c.1297 p.E433Q 0.988 NULL pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors POC1B HGNC ENSG00000139323 tier1 - - 52 0 0.00 25 20 44.44 87 0 0.00 36 26 41.94 NISCH 0 genome.wustl.edu 37 3 52506402 52506407 + In_Frame_Del DEL GCATCA GCATCA - TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 GCATCA GCATCA GCATCA - GCATCA GCATCA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 3 52506402 52506407 GCATCA - DEL NISCH ENST00000345716 human ensembl 74_37 +1 known in_frame_del c.657_662 p.HQ220in_frame_del 0.940:0.998:0.990:0.987:1.000:1.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 tier1 76 0 0.00 35 5 12.50 76 0 0.00 35 5 12.50 SPTAN1 0 genome.wustl.edu 37 9 131347022 131347027 + In_Frame_Del DEL GAATCT GAATCT - TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 GAATCT GAATCT GAATCT - GAATCT GAATCT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 9 131347022 131347027 GAATCT - DEL SPTAN1 ENST00000358161 human ensembl 74_37 +1 known in_frame_del c.2460_2465 p.NL821in_frame_del 1.000:1.000:1.000:0.994:0.998:0.995 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 tier1 126 0 0.00 52 6 10.34 126 0 0.00 52 6 10.34 DNMT3A 0 genome.wustl.edu 37 2 25469969 25469976 + Frame_Shift_Del DEL GTGGCCTG GTGGCCTG - TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 GTGGCCTG GTGGCCTG GTGGCCTG - GTGGCCTG GTGGCCTG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 2 25469969 25469976 GTGGCCTG - DEL DNMT3A ENST00000264709 human ensembl 74_37 -1 known frame_shift_del c.1073_1066 p.Q356fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_PWWP_dom pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 tier1 101 0 0.00 47 10 17.54 101 0 0.00 47 10 17.54 TRIM46 0 genome.wustl.edu 37 1 155150521 155150521 + Frame_Shift_Del DEL G G - TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 1 155150521 155150521 G - DEL TRIM46 ENST00000334634 human ensembl 74_37 +1 known frame_shift_del c.953 p.L320fs 0.999 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 tier1 38 0 0.00 20 26 56.52 29 0 0.00 15 21 58.33 NISCH 0 genome.wustl.edu 37 3 52506398 52506398 + Frame_Shift_Del DEL C C - TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 3 52506398 52506398 C - DEL NISCH ENST00000345716 human ensembl 74_37 +1 known frame_shift_del c.653 p.L219fs 1.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 tier1 55 0 0.00 21 6 22.22 77 0 0.00 33 6 15.38 LPHN3 0 genome.wustl.edu 37 4 62383050 62383050 + Silent SNP C C A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 4 62383050 62383050 C A SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known silent c.73 p.R25 0.998 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 tier1 - - 38 0 0.00 8 12 60.00 12 0 0.00 4 4 50.00 MGAT5B 0 genome.wustl.edu 37 17 74878347 74878347 + Missense_Mutation SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 17 74878347 74878347 G A SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known missense c.329 p.R110Q 1.000 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 tier1 - - 62 0 0.00 24 39 61.90 14 0 0.00 3 3 50.00 C18orf54 0 genome.wustl.edu 37 18 51887076 51887076 + Missense_Mutation SNP A A G TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 18 51887076 51887076 A G SNP C18orf54 ENST00000300091 human ensembl 74_37 +1 known missense c.134 p.Y45C 0.985 NULL NULL - no_errors C18orf54 HGNC ENSG00000166845 tier1 rs199598871 - 62 0 0.00 78 16 17.02 76 0 0.00 85 8 8.60 NPSR1-AS1 0 genome.wustl.edu 37 7 34873934 34873934 + R SNP T T C TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 7 34873934 34873934 T C SNP NPSR1-AS1 ENST00000436945 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NPSR1-AS1 HGNC ENSG00000197085 tier1 - - 30 0 0.00 30 5 14.29 113 0 0.00 69 4 5.48 SPTAN1 0 genome.wustl.edu 37 9 131347005 131347019 + In_Frame_Del DEL GATTTAATTGGGGTC GATTTAATTGGGGTC - TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 GATTTAATTGGGGTC GATTTAATTGGGGTC GATTTAATTGGGGTC - GATTTAATTGGGGTC GATTTAATTGGGGTC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 9 131347005 131347019 GATTTAATTGGGGTC - DEL SPTAN1 ENST00000358161 human ensembl 74_37 +1 known in_frame_del c.2443_2457 p.DLIGV815in_frame_del 1.000:1.000:0.992:0.988:1.000:0.997:1.000:0.998:0.997:1.000:1.000:0.254:1.000:1.000:1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 tier1 134 0 0.00 55 6 9.84 134 0 0.00 55 6 9.84 CCNYL2 0 genome.wustl.edu 37 10 42924563 42924564 + Splice_Site INS - - A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 10 42924563 42924564 - A INS CCNYL2 ENST00000483242 human ensembl 74_37 -1 known splice_site_ins c.NULL NULL 1.000:1.000 - - - no_errors CCNYL2 HGNC ENSG00000182632 tier1 213 0 0.00 21 4 16.00 14 0 0.00 0 0 0.00 DHCR7 0 genome.wustl.edu 37 11 71146576 71146576 + Missense_Mutation SNP C C A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 11 71146576 71146576 C A SNP DHCR7 ENST00000355527 human ensembl 74_37 -1 known missense c.1273 p.G425C 0.873 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 tier1 - - 76 0 0.00 20 16 44.44 12 0 0.00 1 1 50.00 GATAD2A 0 genome.wustl.edu 37 19 19612198 19612198 + Silent SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 19 19612198 19612198 C T SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known silent c.1473 p.T491 0.000 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 tier1 - - 20 0 0.00 13 6 31.58 10 0 0.00 5 0 0.00 LRRC46 0 genome.wustl.edu 37 17 45914249 45914249 + Silent SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 17 45914249 45914249 C T SNP LRRC46 ENST00000269025 human ensembl 74_37 +1 known silent c.729 p.P243 0.012 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC46 HGNC ENSG00000141294 tier1 - - 67 0 0.00 39 7 15.22 17 0 0.00 7 0 0.00 NTM 0 genome.wustl.edu 37 11 132206309 132206309 + R SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 11 132206309 132206309 G A SNP NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.891 - - - no_errors NTM HGNC ENSG00000182667 tier1 - - 12 0 0.00 6 6 50.00 14 0 0.00 3 1 25.00 PTPN14 0 genome.wustl.edu 37 1 214706552 214706552 + R SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 1 214706552 214706552 C T SNP PTPN14 ENST00000491277 human ensembl 74_37 -1 putative rna NULL NULL 0.984 - - - no_errors PTPN14 HGNC ENSG00000152104 tier1 - - 34 0 0.00 14 8 36.36 10 0 0.00 4 0 0.00 SOX8 0 genome.wustl.edu 37 16 1033836 1033836 + Silent SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 16 1033836 1033836 G A SNP SOX8 ENST00000293894 human ensembl 74_37 +1 known silent c.531 p.K177 0.552 NULL pfam_HMG_box_dom,pfam_Sox_N,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX8 HGNC ENSG00000005513 tier1 - - 72 0 0.00 90 13 12.62 8 0 0.00 4 1 20.00 CROCCP3 0 genome.wustl.edu 37 1 16810805 16810822 + R DEL GGCCTCGGCGGGGTGAAC GGCCTCGGCGGGGTGAAC - TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 GGCCTCGGCGGGGTGAAC GGCCTCGGCGGGGTGAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 1 16810805 16810822 GGCCTCGGCGGGGTGAAC - DEL CROCCP3 ENST00000263511 human ensembl 74_37 -1 known rna NULL NULL 0.994:0.998:0.998:0.998:0.998:1.000:1.000:1.000:1.000:0.996:0.986:0.999:1.000:0.996:1.000:1.000:1.000:1.000 - - - no_errors CROCCP3 HGNC ENSG00000080947 tier1 0 0 0.00 1 0 0.00 0 0 0.00 1 0 0.00 ENSG00000221011 0 genome.wustl.edu 37 7 7034903 7034903 + R SNP G G T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 7 7034903 7034903 G T SNP ENSG00000221011 ENST00000408084 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC079804.1 Clone_based_ensembl_gene ENSG00000221011 tier1 - - 186 0 0.00 137 21 13.29 3 0 0.00 2 0 0.00 ENSG00000234978 0 genome.wustl.edu 37 1 142803228 142803228 + R SNP T T C TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 1 142803228 142803228 T C SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 tier1 - - 88 0 0.00 49 8 14.04 1 0 0.00 0 0 0.00 HMGB3 0 genome.wustl.edu 37 X 150155663 150155663 + Missense_Mutation SNP T T G TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b X 150155663 150155663 T G SNP HMGB3 ENST00000325307 human ensembl 74_37 +1 known missense c.353 p.I118S 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB3 HGNC ENSG00000029993 tier1 - - 58 0 0.00 20 18 47.37 0 0 0.00 0 0 0.00 MT-CO2 0 genome.wustl.edu 37 MT 8083 8083 + Silent SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b MT 8083 8083 C T SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known silent c.498 p.P166 NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 - - 92 0 0.00 16 10 38.46 1 0 0.00 0 0 0.00 NRXN1 0 genome.wustl.edu 37 2 50147836 50147841 + R DEL GTGTGT GTGTGT - TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 GTGTGT GTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 2 50147836 50147841 GTGTGT - DEL NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001:0.005:0.106:0.113:0.127 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 PCDHB4 0 genome.wustl.edu 37 5 140503386 140503386 + Silent SNP G G A TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 5 140503386 140503386 G A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known silent c.1806 p.S602 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 tier1 - - 99 0 0.00 74 36 32.73 2 0 0.00 0 0 0.00 ZNF705A 0 genome.wustl.edu 37 12 8329703 8329703 + Missense_Mutation SNP C C T TCGA-DX-AB2O-01A-12D-A38Z-09 TCGA-DX-AB2O-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 896a657f-b6ac-4dc4-95da-4dc85bee201b 7f1a23c3-6312-405e-bcd0-42890136bd2b 12 8329703 8329703 C T SNP ZNF705A ENST00000359286 human ensembl 74_37 +1 known missense c.427 p.P143S 0.911 pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF705A HGNC ENSG00000196946 tier1 - - 343 0 0.00 414 48 10.39 82 0 0.00 49 3 5.77