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 DSCAM 0 genome.wustl.edu 37 21 41416026 41416026 + Missense_Mutation SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 21 41416026 41416026 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.5362 p.V1788I 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 25 0 0.00 17 16 48.48 57 0 0.00 36 51 58.62 TMEM131 0 genome.wustl.edu 37 2 98428883 98428883 + Splice_Site SNP C C A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 2 98428883 98428883 C A SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known splice_site c.1863+1 e17+1 1.000 - - - no_errors TMEM131 HGNC ENSG00000075568 tier1 - - 48 0 0.00 39 66 62.86 87 0 0.00 69 81 53.64 FSTL4 0 genome.wustl.edu 37 5 132902896 132902896 + Silent SNP A A G TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 5 132902896 132902896 A G SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known silent c.141 p.F47 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 tier1 - - 56 0 0.00 58 12 17.14 99 0 0.00 95 27 22.13 ZNF80 0 genome.wustl.edu 37 3 113955795 113955795 + Missense_Mutation SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 3 113955795 113955795 C T SNP ZNF80 ENST00000308095 human ensembl 74_37 -1 known missense c.127 p.V43I 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF80 HGNC ENSG00000174255 tier1 - - 52 0 0.00 71 15 17.44 101 0 0.00 178 39 17.89 IGSF1 0 genome.wustl.edu 37 X 130408685 130408685 + Silent SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 X 130408685 130408685 G A SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known silent c.3654 p.I1218 0.983 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 tier1 - - 42 0 0.00 80 10 11.11 107 0 0.00 200 24 10.71 PTPRT 0 genome.wustl.edu 37 20 41419840 41419840 + Missense_Mutation SNP A A G TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 20 41419840 41419840 A G SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.481 p.Y161H 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 76 0 0.00 84 25 22.94 65 0 0.00 113 31 21.53 MTHFD2L 0 genome.wustl.edu 37 4 75041117 75041117 + Missense_Mutation SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 4 75041117 75041117 C T SNP MTHFD2L ENST00000395759 human ensembl 74_37 +1 known missense c.448 p.P150S 1.000 pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase pfam_THF_DH/CycHdrlase_D-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2L HGNC ENSG00000163738 tier1 - - 74 0 0.00 134 36 21.18 133 0 0.00 202 42 17.21 CCDC117 0 genome.wustl.edu 37 22 29169758 29169758 + Missense_Mutation SNP G G C TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 22 29169758 29169758 G C SNP CCDC117 ENST00000249064 human ensembl 74_37 +1 known missense c.231 p.E77D 0.860 NULL NULL - no_errors CCDC117 HGNC ENSG00000159873 tier1 - - 65 0 0.00 35 20 36.36 143 0 0.00 108 36 25.00 PGLYRP3 0 genome.wustl.edu 37 1 153271624 153271624 + Missense_Mutation SNP A A G TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 1 153271624 153271624 A G SNP PGLYRP3 ENST00000290722 human ensembl 74_37 -1 known missense c.812 p.I271T 0.995 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP3 HGNC ENSG00000159527 tier1 - - 53 0 0.00 41 16 28.07 89 0 0.00 101 32 24.06 DMTF1 0 genome.wustl.edu 37 7 86811368 86811368 + Missense_Mutation SNP A A G TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 7 86811368 86811368 A G SNP DMTF1 ENST00000394702 human ensembl 74_37 +1 known missense c.746 p.H249R 1.000 NULL NULL - no_errors DMTF1 HGNC ENSG00000135164 tier1 - - 69 0 0.00 36 23 38.98 82 0 0.00 65 50 43.48 TRIM21 0 genome.wustl.edu 37 11 4407544 4407544 + Missense_Mutation SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 11 4407544 4407544 C T SNP TRIM21 ENST00000543625 human ensembl 74_37 -1 known missense c.745 p.V249M 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 tier1 - - 23 0 0.00 8 17 65.38 86 0 0.00 35 62 63.27 ZNF300 0 genome.wustl.edu 37 5 150282891 150282891 + Silent SNP A A G TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 5 150282891 150282891 A G SNP ZNF300 ENST00000446148 human ensembl 74_37 -1 known silent c.21 p.S7 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF300 HGNC ENSG00000145908 tier1 - - 61 0 0.00 94 22 18.97 99 0 0.00 141 38 21.23 ESX1 0 genome.wustl.edu 37 X 103494923 103494923 + Missense_Mutation SNP A A T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 X 103494923 103494923 A T SNP ESX1 ENST00000372588 human ensembl 74_37 -1 known missense c.1207 p.C403S 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU - no_errors ESX1 HGNC ENSG00000123576 tier1 - - 133 0 0.00 103 33 24.26 109 0 0.00 103 23 18.11 NEFH 0 genome.wustl.edu 37 22 29885939 29885939 + Silent SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 22 29885939 29885939 G A SNP NEFH ENST00000310624 human ensembl 74_37 +1 known silent c.2310 p.A770 0.004 NULL pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 tier1 - - 89 0 0.00 51 16 23.88 52 0 0.00 28 21 42.86 ZNF727 0 genome.wustl.edu 37 7 63538202 63538202 + Missense_Mutation SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 7 63538202 63538202 G A SNP ZNF727 ENST00000550760 human ensembl 74_37 +1 known missense c.775 p.E259K 0.400 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 ZNF727 HGNC ENSG00000257482 tier1 rs192720590 GMAF=0.0005 44 0 0.00 34 44 56.41 21 0 0.00 19 18 48.65 CSF2RB 0 genome.wustl.edu 37 22 37334065 37334065 + Missense_Mutation SNP G G C TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 22 37334065 37334065 G C SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.2233 p.D745H 0.001 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 tier1 - - 30 0 0.00 32 102 75.56 70 0 0.00 74 172 69.92 ARHGAP27 0 genome.wustl.edu 37 17 43472839 43472839 + Missense_Mutation SNP T T G TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 17 43472839 43472839 T G SNP ARHGAP27 ENST00000428638 human ensembl 74_37 -1 known missense c.2653 p.I885L 1.000 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom 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 16 45.71 11 0 0.00 17 6 26.09 TMEM169 0 genome.wustl.edu 37 2 216965176 216965176 + Missense_Mutation SNP A A T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 2 216965176 216965176 A T SNP TMEM169 ENST00000295658 human ensembl 74_37 +1 known missense c.805 p.S269C 1.000 NULL NULL - no_errors TMEM169 HGNC ENSG00000163449 tier1 - - 31 0 0.00 10 11 52.38 64 0 0.00 21 49 70.00 LCT 0 genome.wustl.edu 37 2 136570168 136570168 + Missense_Mutation SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 2 136570168 136570168 C T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.2066 p.R689H 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 rs146706415 GMAF=0.0005 33 0 0.00 9 18 64.29 76 0 0.00 17 61 78.21 RIMS2 0 genome.wustl.edu 37 8 105235954 105235954 + Silent SNP G G T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 8 105235954 105235954 G T SNP RIMS2 ENST00000339750 human ensembl 74_37 +1 known silent c.75 p.L25 0.970 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 71 0 0.00 33 18 35.29 22 0 0.00 17 8 32.00 ZNF225 0 genome.wustl.edu 37 19 44622637 44622637 + Missense_Mutation SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 19 44622637 44622637 C T SNP ZNF225 ENST00000262894 human ensembl 74_37 +1 known missense c.145 p.H49Y 0.002 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,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 ZNF225 HGNC ENSG00000256294 tier1 - - 90 0 0.00 44 12 21.43 57 0 0.00 85 24 22.02 IGSF1 0 genome.wustl.edu 37 X 130408744 130408744 + Missense_Mutation SNP G G C TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 X 130408744 130408744 G C SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.3595 p.L1199V 0.994 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 tier1 - - 81 0 0.00 93 11 10.58 131 0 0.00 208 31 12.97 DCX 0 genome.wustl.edu 37 X 110653472 110653472 + Missense_Mutation SNP G G T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 X 110653472 110653472 G T SNP DCX ENST00000338081 human ensembl 74_37 -1 known missense c.398 p.A133D 1.000 smart_Doublecortin_dom,pirsf_Doublecortin_chordata pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC ENSG00000077279 tier1 - - 75 0 0.00 54 18 25.00 82 0 0.00 110 30 21.43 ZNF534 0 genome.wustl.edu 37 19 52954520 52954520 + Missense_Mutation SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 19 52954520 52954520 G A SNP ZNF534 ENST00000301085 human ensembl 74_37 +1 putative missense c.352 p.G118S 0.001 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF534 HGNC ENSG00000198633 tier1 - - 73 0 0.00 94 19 16.81 36 0 0.00 56 8 12.50 ASPDH 0 genome.wustl.edu 37 19 51017057 51017057 + Missense_Mutation SNP C C A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 19 51017057 51017057 C A SNP ASPDH ENST00000389208 human ensembl 74_37 -1 known missense c.24 p.R8S 0.806 NULL pfam_Asp_DH,pfam_Asp/hSer_DH_D-bd - no_errors ASPDH HGNC ENSG00000204653 tier1 - - 85 0 0.00 105 19 15.32 35 0 0.00 62 20 24.39 SNRPB 0 genome.wustl.edu 37 20 2442576 2442576 + Silent SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 20 2442576 2442576 C T SNP SNRPB ENST00000381342 human ensembl 74_37 -1 known silent c.695 p.*232 1.000 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPB HGNC ENSG00000125835 tier1 - - 67 0 0.00 81 21 20.59 134 0 0.00 113 34 23.13 PKD2L2 0 genome.wustl.edu 37 5 137226243 137226243 + Nonsense_Mutation SNP C C A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 5 137226243 137226243 C A SNP PKD2L2 ENST00000508883 human ensembl 74_37 +1 known nonsense c.105 p.Y35* 1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC ENSG00000078795 tier1 - - 103 1 0.95 122 42 25.61 90 0 0.00 121 43 26.22 FAM155A 0 genome.wustl.edu 37 13 107822972 107822972 + Missense_Mutation SNP A A T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 13 107822972 107822972 A T SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.1250 p.L417H 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 tier1 - - 57 0 0.00 29 8 21.62 41 0 0.00 41 19 31.67 ANO7 0 genome.wustl.edu 37 2 242149951 242149951 + Missense_Mutation SNP C C G TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 2 242149951 242149951 C G SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.1689 p.I563M 0.998 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 tier1 - - 20 0 0.00 10 11 52.38 69 0 0.00 26 42 61.76 GBF1 0 genome.wustl.edu 37 10 104121645 104121645 + Missense_Mutation SNP G G C TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 10 104121645 104121645 G C SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.1659 p.E553D 0.984 superfamily_ARM-type_fold pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 tier1 - - 18 0 0.00 9 17 65.38 56 0 0.00 45 21 31.82 RANGAP1 0 genome.wustl.edu 37 22 41642614 41642614 + Missense_Mutation SNP T T C TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 22 41642614 41642614 T C SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known missense c.1757 p.K586R 0.721 pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 tier1 - - 55 0 0.00 39 12 23.53 59 0 0.00 125 18 12.59 STC1 0 genome.wustl.edu 37 8 23702549 23702549 + Missense_Mutation SNP A A T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 8 23702549 23702549 A T SNP STC1 ENST00000290271 human ensembl 74_37 -1 known missense c.478 p.Y160N 1.000 pfam_Stanniocalcin pfam_Stanniocalcin - no_errors STC1 HGNC ENSG00000159167 tier1 - - 31 0 0.00 8 10 55.56 30 0 0.00 30 35 53.85 KRTAP24-1 0 genome.wustl.edu 37 21 31654526 31654526 + Missense_Mutation SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 21 31654526 31654526 C T SNP KRTAP24-1 ENST00000340345 human ensembl 74_37 -1 known missense c.725 p.R242K 1.000 NULL pfam_KRTAP_PMG - no_errors KRTAP24-1 HGNC ENSG00000188694 tier1 - - 45 0 0.00 33 6 15.38 97 0 0.00 101 33 24.63 FAM90A27P 0 genome.wustl.edu 37 19 53786084 53786084 + R SNP G G T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 19 53786084 53786084 G T SNP FAM90A27P ENST00000599085 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM90A27P HGNC ENSG00000189348 tier1 - - 84 0 0.00 82 23 21.90 13 0 0.00 13 9 40.91 CD209 0 genome.wustl.edu 37 19 7808042 7808042 + Silent SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 19 7808042 7808042 G A SNP CD209 ENST00000315599 human ensembl 74_37 -1 known silent c.1098 p.D366 0.003 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CD209 HGNC ENSG00000090659 tier1 - - 85 0 0.00 44 46 51.11 93 0 0.00 79 64 44.44 MYH13 0 genome.wustl.edu 37 17 10248638 10248638 + Missense_Mutation SNP G G C TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 17 10248638 10248638 G C SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.1465 p.Q489E 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_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,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 154 0 0.00 287 35 10.87 28 0 0.00 48 11 18.33 HKDC1 0 genome.wustl.edu 37 10 70980216 70980216 + Missense_Mutation SNP T T C TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 10 70980216 70980216 T C SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known missense c.25 p.F9L 0.997 NULL pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 tier1 - - 58 0 0.00 15 30 66.67 106 0 0.00 22 69 75.82 DGAT1 0 genome.wustl.edu 37 8 145541664 145541664 + Missense_Mutation SNP G G C TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 8 145541664 145541664 G C SNP DGAT1 ENST00000531896 human ensembl 74_37 -1 putative missense c.859 p.L287V 0.929 NULL superfamily_PEP-util_enz_mobile_dom - no_errors DGAT1 HGNC ENSG00000185000 tier1 - - 19 0 0.00 11 5 31.25 30 0 0.00 33 9 21.43 NSUN5 0 genome.wustl.edu 37 7 72717521 72717521 + Missense_Mutation SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 7 72717521 72717521 G A SNP NSUN5 ENST00000438747 human ensembl 74_37 -1 known missense c.1292 p.A431V 0.027 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC ENSG00000130305 tier1 - - 90 0 0.00 77 13 14.44 38 0 0.00 66 25 27.47 ZMAT1 0 genome.wustl.edu 37 X 101159271 101159271 + Missense_Mutation SNP G G T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 X 101159271 101159271 G T SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known missense c.154 p.L52I 0.052 NULL superfamily_Asn/Gln_tR_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 tier1 - - 48 0 0.00 51 21 29.17 124 0 0.00 130 39 23.08 SRPK2 0 genome.wustl.edu 37 7 104758460 104758460 + Missense_Mutation SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 7 104758460 104758460 C T SNP SRPK2 ENST00000393651 human ensembl 74_37 -1 known missense c.1925 p.R642Q 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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 SRPK2 HGNC ENSG00000135250 tier1 - - 28 0 0.00 39 19 32.76 131 0 0.00 102 74 42.05 VPS4A 0 genome.wustl.edu 37 16 69353364 69353364 + Missense_Mutation SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 16 69353364 69353364 G A SNP VPS4A ENST00000254950 human ensembl 74_37 +1 known missense c.538 p.V180M 1.000 pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_D_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_D_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 tier1 - - 65 0 0.00 22 15 40.54 71 0 0.00 69 27 28.12 MLH1 0 genome.wustl.edu 37 3 37070375 37070375 + Missense_Mutation SNP A A T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 3 37070375 37070375 A T SNP MLH1 ENST00000231790 human ensembl 74_37 +1 known missense c.1510 p.T504S 1.000 NULL pfam_D_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_D_mismatch_repair_N - no_errors MLH1 HGNC ENSG00000076242 tier1 - - 108 0 0.00 29 59 67.05 119 0 0.00 34 66 65.35 CNTP4 0 genome.wustl.edu 37 16 76513331 76513331 + Missense_Mutation SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 16 76513331 76513331 C T SNP CNTP4 ENST00000307431 human ensembl 74_37 +1 known missense c.1775 p.S592L 1.000 superfamily_Fibrinogen_a/b/g_C_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTP4 HGNC ENSG00000152910 tier1 - - 60 0 0.00 41 20 32.79 87 0 0.00 65 28 30.11 PTAFR 0 genome.wustl.edu 37 1 28503185 28503185 + Splice_Site SNP C C G TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 1 28503185 28503185 C G SNP PTAFR ENST00000539896 human ensembl 74_37 -1 known splice_site c.1-1 e1-1 0.930 - - - no_errors PTAFR HGNC ENSG00000169403 tier1 - - 42 0 0.00 53 21 28.38 54 0 0.00 67 58 46.40 FAM83B 0 genome.wustl.edu 37 6 54805724 54805724 + Missense_Mutation SNP A A G TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 6 54805724 54805724 A G SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known missense c.1955 p.K652R 0.089 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 tier1 - - 61 0 0.00 51 16 23.88 97 0 0.00 111 29 20.71 CTCFL 0 genome.wustl.edu 37 20 56090832 56090832 + Missense_Mutation SNP C C A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 20 56090832 56090832 C A SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.1118 p.C373F 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 tier1 - - 64 0 0.00 55 30 35.29 81 0 0.00 77 86 52.44 GABRR1 0 genome.wustl.edu 37 6 89907776 89907776 + Missense_Mutation SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 6 89907776 89907776 G A SNP GABRR1 ENST00000454853 human ensembl 74_37 -1 known missense c.535 p.R179W 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC ENSG00000146276 tier1 rs201013212 - 65 0 0.00 31 64 67.37 95 0 0.00 106 147 57.87 KCNJ16 0 genome.wustl.edu 37 17 68128480 68128480 + Silent SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 17 68128480 68128480 G A SNP KCNJ16 ENST00000283936 human ensembl 74_37 +1 known silent c.252 p.S84 0.794 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC ENSG00000153822 tier1 - - 60 0 0.00 12 28 70.00 82 0 0.00 27 50 64.94 IGSF1 0 genome.wustl.edu 37 X 130408805 130408805 + Missense_Mutation SNP G G T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 X 130408805 130408805 G T SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.3534 p.F1178L 1.000 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 tier1 - - 90 0 0.00 132 15 10.20 113 1 0.88 213 39 15.35 PRSS1 0 genome.wustl.edu 37 7 142459862 142459862 + Silent SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 7 142459862 142459862 C T SNP PRSS1 ENST00000311737 human ensembl 74_37 +1 known silent c.438 p.N146 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS1 HGNC ENSG00000204983 tier1 - - 31 0 0.00 21 27 56.25 31 0 0.00 55 33 37.50 GABRD 0 genome.wustl.edu 37 1 1959608 1959608 + Missense_Mutation SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 1 1959608 1959608 G A SNP GABRD ENST00000378585 human ensembl 74_37 +1 known missense c.568 p.E190K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 tier1 - - 33 0 0.00 21 14 40.00 14 0 0.00 26 17 38.64 MYOM2 0 genome.wustl.edu 37 8 2024315 2024315 + Silent SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 8 2024315 2024315 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.1215 p.P405 0.015 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 tier1 - - 71 0 0.00 79 31 28.18 32 0 0.00 30 16 34.78 ASPH 0 genome.wustl.edu 37 8 62438653 62438653 + Missense_Mutation SNP T T C TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 8 62438653 62438653 T C SNP ASPH ENST00000379454 human ensembl 74_37 -1 known missense c.1783 p.K595E 1.000 pfam_Asp_Arg_b-Hydrxlase pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 tier1 - - 46 0 0.00 51 11 17.74 79 0 0.00 95 28 22.76 DOCK4 0 genome.wustl.edu 37 7 111617310 111617310 + Missense_Mutation SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 7 111617310 111617310 G A SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.578 p.T193I 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 tier1 - - 56 0 0.00 48 53 52.48 65 0 0.00 60 43 41.75 PADI6 0 genome.wustl.edu 37 1 17707595 17707595 + R SNP C C A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 1 17707595 17707595 C A SNP PADI6 ENST00000358481 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors PADI6 HGNC ENSG00000256049 tier1 - - 26 0 0.00 37 23 38.33 82 0 0.00 85 61 41.78 GPR112 0 genome.wustl.edu 37 X 135405422 135405422 + Missense_Mutation SNP C C A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 X 135405422 135405422 C A SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.556 p.Q186K 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 44 0 0.00 83 22 20.95 93 0 0.00 121 36 22.93 FAM83F 0 genome.wustl.edu 37 22 40391373 40391373 + Silent SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 22 40391373 40391373 C T SNP FAM83F ENST00000333407 human ensembl 74_37 +1 known silent c.327 p.P109 0.983 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 tier1 - - 17 0 0.00 23 15 39.47 22 0 0.00 23 24 51.06 OPALIN 0 genome.wustl.edu 37 10 98109509 98109509 + Silent SNP T T G TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 10 98109509 98109509 T G SNP OPALIN ENST00000371172 human ensembl 74_37 -1 known silent c.147 p.L49 0.000 NULL NULL - no_errors OPALIN HGNC ENSG00000197430 tier1 - - 36 0 0.00 13 18 58.06 54 0 0.00 17 55 76.39 OR12D3 0 genome.wustl.edu 37 6 29342525 29342525 + Silent SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 6 29342525 29342525 C T SNP OR12D3 ENST00000396806 human ensembl 74_37 -1 known silent c.540 p.K180 0.071 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D3 HGNC ENSG00000112462 tier1 - - 20 0 0.00 17 4 19.05 89 0 0.00 96 29 23.20 LMTK2 0 genome.wustl.edu 37 7 97823854 97823854 + Silent SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 7 97823854 97823854 C T SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known silent c.4077 p.F1359 0.635 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 tier1 - - 34 0 0.00 36 27 42.19 109 0 0.00 96 57 37.01 OR7C1 0 genome.wustl.edu 37 19 14910160 14910160 + Silent SNP T T C TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 19 14910160 14910160 T C SNP OR7C1 ENST00000248073 human ensembl 74_37 -1 known silent c.789 p.A263 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7C1 HGNC ENSG00000127530 tier1 - - 49 0 0.00 25 32 56.14 38 0 0.00 40 32 44.44 CALCR 0 genome.wustl.edu 37 7 93106949 93106949 + Missense_Mutation SNP C C A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 7 93106949 93106949 C A SNP CALCR ENST00000359558 human ensembl 74_37 -1 known missense c.291 p.W97C 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCR HGNC ENSG00000004948 tier1 - - 34 0 0.00 41 15 26.79 91 0 0.00 93 29 23.58 MET 0 genome.wustl.edu 37 7 116340033 116340033 + Missense_Mutation SNP A A T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 7 116340033 116340033 A T SNP MET ENST00000318493 human ensembl 74_37 +1 known missense c.895 p.I299F 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 tier1 - - 31 0 0.00 47 7 12.96 78 0 0.00 109 13 10.66 CAMTA1 0 genome.wustl.edu 37 1 7796530 7796530 + Missense_Mutation SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 1 7796530 7796530 G A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.3193 p.G1065R 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 - - 43 0 0.00 37 6 13.64 86 0 0.00 124 18 12.68 OBSL1 0 genome.wustl.edu 37 2 220424007 220424007 + Missense_Mutation SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 2 220424007 220424007 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.3166 p.G1056R 0.044 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 tier1 - - 20 0 0.00 4 4 50.00 44 0 0.00 12 37 75.51 SLC2A6 0 genome.wustl.edu 37 9 136343454 136343454 + Silent SNP T T C TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 9 136343454 136343454 T C SNP SLC2A6 ENST00000371899 human ensembl 74_37 -1 known silent c.177 p.T59 0.323 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 tier1 rs199947289 GMAF=0.0005 97 0 0.00 50 21 29.58 67 0 0.00 53 25 32.05 ADSL 0 genome.wustl.edu 37 22 40762509 40762509 + Missense_Mutation SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 22 40762509 40762509 G A SNP ADSL ENST00000454266 human ensembl 74_37 +1 known missense c.1480 p.A494T 1.000 NULL pfam_Fumarate_lyase_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Pur_lyase - no_errors ADSL HGNC ENSG00000239900 tier1 - - 74 0 0.00 54 41 43.16 90 0 0.00 104 88 45.83 STARD8 0 genome.wustl.edu 37 X 67939184 67939184 + Silent SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 X 67939184 67939184 G A SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known silent c.1833 p.L611 0.998 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 tier1 - - 90 0 0.00 29 53 64.63 44 0 0.00 10 15 60.00 GJD2 0 genome.wustl.edu 37 15 35045464 35045464 + Missense_Mutation SNP C C A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 15 35045464 35045464 C A SNP GJD2 ENST00000290374 human ensembl 74_37 -1 known missense c.181 p.G61C 1.000 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 tier1 - - 44 0 0.00 16 10 38.46 93 0 0.00 60 27 31.03 FGD3 0 genome.wustl.edu 37 9 95796885 95796885 + Silent SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 9 95796885 95796885 C T SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known silent c.1848 p.S616 0.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 tier1 - - 40 0 0.00 44 27 38.03 11 0 0.00 13 11 45.83 SGK223 0 genome.wustl.edu 37 8 8234395 8234395 + Silent SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 8 8234395 8234395 G A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known silent c.1524 p.S508 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 tier1 rs200101338 - 55 0 0.00 57 13 18.57 43 0 0.00 61 10 14.08 CPAMD8 0 genome.wustl.edu 37 19 17040028 17040028 + Silent SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 19 17040028 17040028 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known silent c.3009 p.P1003 0.999 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 tier1 - - 63 0 0.00 47 14 22.95 62 0 0.00 44 26 37.14 SEC14L6 0 genome.wustl.edu 37 22 30925097 30925097 + Missense_Mutation SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 22 30925097 30925097 C T SNP SEC14L6 ENST00000402034 human ensembl 74_37 -1 novel missense c.641 p.R214H 0.571 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L6 HGNC ENSG00000214491 tier1 - - 31 0 0.00 3 7 70.00 13 0 0.00 14 22 61.11 TGS1 0 genome.wustl.edu 37 8 56698829 56698829 + Missense_Mutation SNP A A G TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 8 56698829 56698829 A G SNP TGS1 ENST00000260129 human ensembl 74_37 +1 known missense c.372 p.I124M 0.006 NULL pfam_R_cap_Gua-N2-MeTrfase,pfam_R_methylase_dom,pfam_tR_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 tier1 - - 36 0 0.00 21 13 38.24 30 0 0.00 30 6 16.22 HMCN1 0 genome.wustl.edu 37 1 186151337 186151337 + Missense_Mutation SNP T T G TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 1 186151337 186151337 T G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.16332 p.H5444Q 0.999 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 24 0 0.00 30 20 40.00 56 0 0.00 64 41 39.05 TARS 0 genome.wustl.edu 37 5 33463875 33463875 + Missense_Mutation SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 5 33463875 33463875 C T SNP TARS ENST00000265112 human ensembl 74_37 +1 known missense c.1853 p.P618L 1.000 superfamily_Anticodon-bd,prints_Thr-tR-ligase_IIa,tigrfam_Thr-tR-ligase_IIa pfam_aa-tR-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tR_SAD,superfamily_Thr/Ala-tR-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tR_SAD,prints_Thr-tR-ligase_IIa,pfscan_aa-tR-synth_II,tigrfam_Thr-tR-ligase_IIa - no_errors TARS HGNC ENSG00000113407 tier1 - - 61 0 0.00 15 23 58.97 95 0 0.00 23 58 71.60 ZNF225 0 genome.wustl.edu 37 19 44622636 44622636 + Silent SNP G G T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 19 44622636 44622636 G T SNP ZNF225 ENST00000262894 human ensembl 74_37 +1 known silent c.144 p.G48 0.001 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,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 ZNF225 HGNC ENSG00000256294 tier1 - - 90 0 0.00 44 12 21.43 57 0 0.00 86 24 21.82 NLRP9 0 genome.wustl.edu 37 19 56220321 56220321 + Missense_Mutation SNP G G C TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 19 56220321 56220321 G C SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.2933 p.P978R 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 tier1 - - 56 0 0.00 62 19 23.46 136 0 0.00 106 25 19.08 IGSF1 0 genome.wustl.edu 37 X 130409008 130409008 + Nonsense_Mutation SNP G G T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 X 130409008 130409008 G T SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known nonsense c.3452 p.S1151* 0.857 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 tier1 - - 60 0 0.00 66 16 19.51 80 0 0.00 155 24 13.41 NF2 0 genome.wustl.edu 37 22 30032860 30032860 + Nonsense_Mutation SNP A A T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 22 30032860 30032860 A T SNP NF2 ENST00000338641 human ensembl 74_37 +1 known nonsense c.235 p.K79* 1.000 pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin - no_errors NF2 HGNC ENSG00000186575 tier1 - - 54 0 0.00 11 33 73.33 75 0 0.00 33 69 67.65 ERVH48-1 0 genome.wustl.edu 37 21 44339204 44339207 + R DEL CAGA CAGA - TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 CAGA CAGA CAGA - CAGA CAGA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 21 44339204 44339207 CAGA - DEL ERVH48-1 ENST00000447535 human ensembl 74_37 -1 known rna NULL NULL 0.012:0.014:0.015:0.016 - - - no_errors ERVH48-1 HGNC ENSG00000233056 tier1 25 0 0.00 8 5 38.46 75 0 0.00 53 17 24.29 ENSG00000228506 0 genome.wustl.edu 37 6 99873377 99873377 + R DEL T T - TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 6 99873377 99873377 T - DEL ENSG00000228506 ENST00000418945 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-98I9.4 Clone_based_vega_gene ENSG00000228506 tier1 14 0 0.00 26 7 21.21 77 0 0.00 199 25 11.16 ARHGAP27 0 genome.wustl.edu 37 17 43472842 43472842 + Frame_Shift_Del DEL C C - TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 17 43472842 43472842 C - DEL ARHGAP27 ENST00000428638 human ensembl 74_37 -1 known frame_shift_del c.2650 p.D884fs 0.234 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom 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 30 0 0.00 20 17 45.95 11 0 0.00 17 6 26.09 SMARCA5 0 genome.wustl.edu 37 4 144442729 144442731 + In_Frame_Del DEL AAC AAC - TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 AAC AAC AAC - AAC AAC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 4 144442729 144442731 AAC - DEL SMARCA5 ENST00000283131 human ensembl 74_37 +1 known in_frame_del c.400_402 p.N134in_frame_del 1.000:1.000:1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 tier1 85 0 0.00 92 38 29.23 119 0 0.00 140 60 30.00 ASMT 0 genome.wustl.edu 37 X 1743283 1743283 + Silent SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 X 1743283 1743283 C T SNP ASMT ENST00000381241 human ensembl 74_37 +1 known silent c.366 p.D122 0.452 pfam_O_MeTrfase_2,pirsf_COMT pfam_O_MeTrfase_2,pirsf_COMT - no_errors ASMT HGNC ENSG00000196433 tier1 - - 78 0 0.00 13 57 80.28 7 0 0.00 4 23 85.19 FOSB 0 genome.wustl.edu 37 19 45974168 45974168 + Frame_Shift_Del DEL C C - TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 19 45974168 45974168 C - DEL FOSB ENST00000353609 human ensembl 74_37 +1 known frame_shift_del c.408 p.P137fs 1.000 NULL pfam_bZIP,superfamily_TF_D-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSB HGNC ENSG00000125740 tier1 12 0 0.00 15 6 28.57 9 0 0.00 9 4 30.77 JAKMIP3 0 genome.wustl.edu 37 10 133976760 133976760 + Missense_Mutation SNP G G T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 10 133976760 133976760 G T SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.2262 p.E754D 0.686 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 tier1 - - 45 0 0.00 12 40 76.92 17 0 0.00 4 9 69.23 PLX3 0 genome.wustl.edu 37 X 153692617 153692617 + Missense_Mutation SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 X 153692617 153692617 C T SNP PLX3 ENST00000369682 human ensembl 74_37 +1 known missense c.1789 p.P597S 0.999 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLX3 HGNC ENSG00000130827 tier1 - - 21 0 0.00 17 4 19.05 22 0 0.00 5 3 37.50 MYH4 0 genome.wustl.edu 37 17 10351814 10351814 + Missense_Mutation SNP G G T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 17 10351814 10351814 G T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.4555 p.Q1519K 1.000 pfam_Myosin_tail,superfamily_tR-bd_arm pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 34 0 0.00 72 17 19.10 93 0 0.00 227 24 9.49 UCP1 0 genome.wustl.edu 37 4 141489848 141489848 + Silent SNP G G T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 4 141489848 141489848 G T SNP UCP1 ENST00000262999 human ensembl 74_37 -1 known silent c.36 p.T12 1.000 superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors UCP1 HGNC ENSG00000109424 tier1 - - 41 0 0.00 41 12 22.64 33 0 0.00 56 4 6.56 PCDHA4 0 genome.wustl.edu 37 5 140187880 140187880 + Missense_Mutation SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 5 140187880 140187880 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1108 p.A370T 0.882 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 55 0 0.00 69 6 8.00 65 0 0.00 99 10 9.17 IGSF1 0 genome.wustl.edu 37 X 130408707 130408707 + Nonsense_Mutation SNP G G C TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 X 130408707 130408707 G C SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known nonsense c.3632 p.S1211* 0.957 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 tier1 - - 45 0 0.00 76 10 11.63 117 0 0.00 188 20 9.62 ZCRB1 0 genome.wustl.edu 37 12 42706971 42706971 + Frame_Shift_Del DEL T T - TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 12 42706971 42706971 T - DEL ZCRB1 ENST00000266529 human ensembl 74_37 -1 known frame_shift_del c.552 p.K184fs 0.732 NULL pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom_euk,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors ZCRB1 HGNC ENSG00000139168 tier1 54 0 0.00 35 4 10.26 78 0 0.00 72 4 5.26 SRGAP3 0 genome.wustl.edu 37 3 9034675 9034675 + Missense_Mutation SNP G G T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 3 9034675 9034675 G T SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known missense c.2473 p.L825M 1.000 superfamily_SH3_domain pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 tier1 - - 38 0 0.00 39 7 15.22 34 1 2.86 58 14 19.44 BCR 0 genome.wustl.edu 37 22 23523835 23523835 + Missense_Mutation SNP C C A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 22 23523835 23523835 C A SNP BCR ENST00000305877 human ensembl 74_37 +1 known missense c.688 p.P230T 0.000 NULL pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 tier1 - - 37 0 0.00 31 4 11.11 6 0 0.00 4 0 0.00 ELMSAN1 0 genome.wustl.edu 37 14 74205954 74205956 + In_Frame_Del DEL TGC TGC - TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 14 74205954 74205956 TGC - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known in_frame_del c.758_756 p.Q253in_frame_del 0.074:0.180:0.001 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 tier1 39 0 0.00 40 5 11.11 9 0 0.00 5 0 0.00 OR13A1 0 genome.wustl.edu 37 10 45799437 45799437 + Missense_Mutation SNP C C A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 10 45799437 45799437 C A SNP OR13A1 ENST00000374401 human ensembl 74_37 -1 known missense c.434 p.C145F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13A1 HGNC ENSG00000256574 tier1 - - 18 0 0.00 5 7 58.33 7 0 0.00 9 1 10.00 POTEJ 0 genome.wustl.edu 37 2 131369279 131369279 + Missense_Mutation SNP G G T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 2 131369279 131369279 G T SNP POTEJ ENST00000409602 human ensembl 74_37 +1 novel missense c.174 p.R58S 0.012 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEJ HGNC ENSG00000222038 tier1 - - 37 0 0.00 10 2 16.67 8 0 0.00 7 0 0.00 SFTPB 0 genome.wustl.edu 37 2 85895264 85895266 + In_Frame_Del DEL GCA GCA - TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 2 85895264 85895266 GCA - DEL SFTPB ENST00000393822 human ensembl 74_37 -1 known in_frame_del c.79_77 p.L26in_frame_del 0.966:0.981:0.990 NULL pfam_SapB_2,pfam_SapA,pfam_SapB_1,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin - no_errors SFTPB HGNC ENSG00000168878 tier1 18 0 0.00 15 2 11.76 12 0 0.00 5 1 16.67 CEP97 0 genome.wustl.edu 37 3 101481976 101481976 + Silent SNP C C T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 3 101481976 101481976 C T SNP CEP97 ENST00000327230 human ensembl 74_37 +1 known silent c.1917 p.P639 0.008 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 tier1 - - 74 0 0.00 48 26 35.14 0 0 0.00 0 0 0.00 FAM230B 0 genome.wustl.edu 37 22 21537771 21537771 + R SNP G G C TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 22 21537771 21537771 G C SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors FAM230B HGNC ENSG00000215498 tier1 rs63749487 - 37 0 0.00 14 3 17.65 4 0 0.00 2 0 0.00 PKD1 0 genome.wustl.edu 37 16 2153897 2153897 + Splice_Site SNP C C A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 16 2153897 2153897 C A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known splice_site c.8162-1 e23-1 0.998 - - - no_errors PKD1 HGNC ENSG00000008710 tier1 - - 41 0 0.00 35 4 10.26 0 0 0.00 0 0 0.00 RSET2 0 genome.wustl.edu 37 6 167369655 167369655 + Missense_Mutation SNP G G T TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 6 167369655 167369655 G T SNP RSET2 ENST00000476238 human ensembl 74_37 -1 known missense c.16 p.L6M 0.000 NULL pfam_RNase_T2-like,superfamily_RNase_T2-like - no_errors RSET2 HGNC ENSG00000026297 tier1 - - 39 0 0.00 40 5 11.11 2 0 0.00 2 0 0.00 TBP 0 genome.wustl.edu 37 6 170871004 170871004 + Silent SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 6 170871004 170871004 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.180 p.Q60 0.991 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 tier1 - - 43 0 0.00 43 11 20.37 0 0 0.00 3 0 0.00 UNC93B6 0 genome.wustl.edu 37 11 71314423 71314423 + R SNP G G A TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 11 71314423 71314423 G A SNP UNC93B6 ENST00000525262 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors UNC93B6 HGNC ENSG00000255562 tier1 - - 115 0 0.00 61 60 49.59 0 0 0.00 0 0 0.00 USP17L2 0 genome.wustl.edu 37 8 11995398 11995398 + Missense_Mutation SNP A A G TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 8 11995398 11995398 A G SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known missense c.872 p.L291P 0.001 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 tier1 - - 98 0 0.00 83 29 25.89 3 0 0.00 8 1 11.11 POTEG 0 genome.wustl.edu 37 14 19559063 19559063 + Missense_Mutation SNP G G C TCGA-DX-A6YQ-01A-12D-A33E-09 TCGA-DX-A6YQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a7be76f9-2aaa-4fbe-95d0-7a1a304f48e8 d69e4b21-e6ab-4164-9ba6-809891a82b67 14 19559063 19559063 G C SNP POTEG ENST00000409832 human ensembl 74_37 +1 known missense c.709 p.E237Q 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 tier1 - - 258 0 0.00 241 35 12.68 37 0 0.00 29 3 9.38