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 HSPA13 0 genome.wustl.edu 37 21 15746041 15746041 + Missense_Mutation SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 21 15746041 15746041 G A SNP HSPA13 ENST00000285667 human ensembl 74_37 -1 known missense c.1313 p.T438M 0.995 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA13 HGNC ENSG00000155304 tier1 - - 45 0 0.00 23 9 28.12 91 0 0.00 33 29 46.77 MPP2 0 genome.wustl.edu 37 17 41958094 41958094 + Missense_Mutation SNP A A G TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 17 41958094 41958094 A G SNP MPP2 ENST00000461854 human ensembl 74_37 -1 known missense c.1187 p.M396T 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP2 HGNC ENSG00000108852 tier1 - - 14 0 0.00 9 7 43.75 62 0 0.00 27 18 40.00 ZNF324B 0 genome.wustl.edu 37 19 58967100 58967100 + Missense_Mutation SNP C C G TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 19 58967100 58967100 C G SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known missense c.789 p.S263R 0.063 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 ZNF324B HGNC ENSG00000249471 tier1 - - 25 0 0.00 32 6 15.79 39 0 0.00 59 9 13.24 SHARPIN 0 genome.wustl.edu 37 8 145154939 145154939 + Missense_Mutation SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 8 145154939 145154939 G A SNP SHARPIN ENST00000398712 human ensembl 74_37 -1 known missense c.410 p.P137L 0.193 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC ENSG00000179526 tier1 - - 56 0 0.00 18 46 71.88 50 0 0.00 41 72 63.72 CHTOP 0 genome.wustl.edu 37 1 153614745 153614745 + Missense_Mutation SNP G G C TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 1 153614745 153614745 G C SNP CHTOP ENST00000368694 human ensembl 74_37 +1 known missense c.243 p.K81N 1.000 NULL NULL - no_errors CHTOP HGNC ENSG00000160679 tier1 - - 47 0 0.00 41 13 24.07 82 0 0.00 88 26 22.81 PLEKHA3 0 genome.wustl.edu 37 2 179365893 179365893 + Silent SNP A A G TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 2 179365893 179365893 A G SNP PLEKHA3 ENST00000234453 human ensembl 74_37 +1 known silent c.765 p.E255 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA3 HGNC ENSG00000116095 tier1 - - 68 0 0.00 19 30 61.22 88 0 0.00 24 46 65.71 CNIH4 0 genome.wustl.edu 37 1 224553606 224553606 + Missense_Mutation SNP A A G TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 1 224553606 224553606 A G SNP CNIH4 ENST00000465271 human ensembl 74_37 +1 known missense c.164 p.H55R 0.999 pfam_Cornichon pfam_Cornichon - no_errors CNIH4 HGNC ENSG00000143771 tier1 - - 57 0 0.00 10 45 81.82 189 0 0.00 23 79 77.45 ANXA7 0 genome.wustl.edu 37 10 75156285 75156285 + Missense_Mutation SNP G G C TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 10 75156285 75156285 G C SNP ANXA7 ENST00000372919 human ensembl 74_37 -1 known missense c.427 p.P143A 0.924 NULL pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVII,prints_AnnexinIV - no_errors ANXA7 HGNC ENSG00000138279 tier1 - - 43 0 0.00 5 7 58.33 161 0 0.00 19 40 67.80 FEZF1 0 genome.wustl.edu 37 7 121943846 121943846 + Missense_Mutation SNP C C A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 7 121943846 121943846 C A SNP FEZF1 ENST00000442488 human ensembl 74_37 -1 known missense c.646 p.V216L 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF1 HGNC ENSG00000128610 tier1 - - 52 0 0.00 22 5 18.52 103 0 0.00 71 13 15.48 SPERT 0 genome.wustl.edu 37 13 46287374 46287374 + Missense_Mutation SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 13 46287374 46287374 G A SNP SPERT ENST00000310521 human ensembl 74_37 +1 known missense c.214 p.A72T 0.008 NULL NULL - no_errors SPERT HGNC ENSG00000174015 tier1 - - 80 0 0.00 16 35 68.63 25 0 0.00 10 18 64.29 OR2B11 0 genome.wustl.edu 37 1 247615033 247615033 + Missense_Mutation SNP C C A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 1 247615033 247615033 C A SNP OR2B11 ENST00000318749 human ensembl 74_37 -1 known missense c.252 p.Q84H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B11 HGNC ENSG00000177535 tier1 - - 33 0 0.00 9 16 64.00 114 0 0.00 20 61 74.39 RALYL 0 genome.wustl.edu 37 8 85800008 85800008 + Silent SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 8 85800008 85800008 G A SNP RALYL ENST00000521268 human ensembl 74_37 +1 known silent c.855 p.E285 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 tier1 - - 61 0 0.00 35 14 28.57 157 0 0.00 63 38 37.62 TNR 0 genome.wustl.edu 37 1 175348838 175348838 + Missense_Mutation SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 1 175348838 175348838 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.1813 p.R605C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 48 0 0.00 9 31 75.61 87 0 0.00 18 40 68.97 PRDM9 0 genome.wustl.edu 37 5 23524559 23524559 + Missense_Mutation SNP G G T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 5 23524559 23524559 G T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.1067 p.W356L 1.000 pfscan_SET_dom pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 tier1 - - 90 0 0.00 62 7 10.14 139 0 0.00 68 12 15.00 KRT84 0 genome.wustl.edu 37 12 52771877 52771877 + Missense_Mutation SNP C C T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 12 52771877 52771877 C T SNP KRT84 ENST00000257951 human ensembl 74_37 -1 known missense c.1744 p.G582S 0.102 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC ENSG00000161849 tier1 - - 35 0 0.00 25 9 26.47 7 0 0.00 11 5 31.25 PLIN5 0 genome.wustl.edu 37 19 4523577 4523577 + Missense_Mutation SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 19 4523577 4523577 G A SNP PLIN5 ENST00000381848 human ensembl 74_37 -1 known missense c.1355 p.P452L 0.000 NULL pfam_Perilipin,pirsf_Perilipin - no_errors PLIN5 HGNC ENSG00000214456 tier1 - - 73 0 0.00 41 18 30.51 50 0 0.00 20 12 37.50 UGT2B15 0 genome.wustl.edu 37 4 69535762 69535762 + Missense_Mutation SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 4 69535762 69535762 G A SNP UGT2B15 ENST00000338206 human ensembl 74_37 -1 known missense c.575 p.P192L 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 tier1 - - 109 0 0.00 54 12 18.18 95 0 0.00 45 10 18.18 PASD1 0 genome.wustl.edu 37 X 150840063 150840063 + Missense_Mutation SNP C C T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e X 150840063 150840063 C T SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.1249 p.R417C 0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 tier1 rs201707889 - 17 0 0.00 2 9 81.82 72 0 0.00 11 47 81.03 PSD3 0 genome.wustl.edu 37 8 18393462 18393462 + Missense_Mutation SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 8 18393462 18393462 G A SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known missense c.2941 p.R981C 0.999 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 tier1 - - 16 0 0.00 24 8 25.00 122 0 0.00 72 31 30.10 DH3 0 genome.wustl.edu 37 16 21030952 21030952 + Nonsense_Mutation SNP C C A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 16 21030952 21030952 C A SNP DH3 ENST00000261383 human ensembl 74_37 -1 known nonsense c.6016 p.E2006* 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DH3 HGNC ENSG00000158486 tier1 - - 126 0 0.00 35 10 22.22 105 0 0.00 63 15 19.23 RIMBP2 0 genome.wustl.edu 37 12 130907024 130907024 + Missense_Mutation SNP G G T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 12 130907024 130907024 G T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.2444 p.S815Y 0.991 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 - - 38 0 0.00 31 16 34.04 66 1 1.49 37 32 46.38 LARP1B 0 genome.wustl.edu 37 4 129012526 129012526 + Missense_Mutation SNP A A T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 4 129012526 129012526 A T SNP LARP1B ENST00000326639 human ensembl 74_37 +1 known missense c.527 p.Y176F 1.000 NULL pfam_Lupus_La_R-bd,smart_Lupus_La_R-bd,smart_DM15,pfscan_Lupus_La_R-bd - no_errors LARP1B HGNC ENSG00000138709 tier1 - - 65 0 0.00 36 5 12.20 126 0 0.00 82 20 19.61 MYH1 0 genome.wustl.edu 37 17 10405167 10405167 + Missense_Mutation SNP T T G TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 17 10405167 10405167 T G SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.3173 p.K1058T 1.000 NULL 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,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 - - 80 0 0.00 54 6 10.00 121 0 0.00 112 13 10.40 TRANK1 0 genome.wustl.edu 37 3 36873669 36873669 + Missense_Mutation SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 3 36873669 36873669 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.7273 p.R2425C 1.000 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 64 0 0.00 29 8 21.62 126 0 0.00 77 10 11.49 OR8H2 0 genome.wustl.edu 37 11 55872824 55872824 + Missense_Mutation SNP C C A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 11 55872824 55872824 C A SNP OR8H2 ENST00000313503 human ensembl 74_37 +1 known missense c.306 p.F102L 0.000 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 OR8H2 HGNC ENSG00000181767 tier1 - - 68 0 0.00 35 28 44.44 59 0 0.00 23 20 46.51 LRP1 0 genome.wustl.edu 37 12 57587731 57587731 + Missense_Mutation SNP C C G TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 12 57587731 57587731 C G SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.7854 p.I2618M 0.073 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 71 0 0.00 101 26 20.47 94 0 0.00 77 24 23.76 BTK 0 genome.wustl.edu 37 X 100611813 100611813 + Silent SNP G G T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e X 100611813 100611813 G T SNP BTK ENST00000308731 human ensembl 74_37 -1 known silent c.1308 p.S436 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_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 tier1 - - 43 0 0.00 24 4 14.29 65 0 0.00 55 13 19.12 GPR149 0 genome.wustl.edu 37 3 154055902 154055902 + Silent SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 3 154055902 154055902 G A SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known silent c.1782 p.S594 0.997 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 tier1 - - 75 0 0.00 39 13 25.00 105 0 0.00 77 14 15.38 SVEP1 0 genome.wustl.edu 37 9 113217882 113217882 + Missense_Mutation SNP A A C TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 9 113217882 113217882 A C SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.3775 p.S1259A 0.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 tier1 - - 72 0 0.00 35 7 16.67 160 0 0.00 125 17 11.97 SLC5A1 0 genome.wustl.edu 37 22 32498162 32498162 + Missense_Mutation SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 22 32498162 32498162 G A SNP SLC5A1 ENST00000266088 human ensembl 74_37 +1 known missense c.1603 p.A535T 0.061 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A1 HGNC ENSG00000100170 tier1 - - 48 0 0.00 7 28 80.00 126 1 0.78 15 90 85.71 CADPS 0 genome.wustl.edu 37 3 62499312 62499312 + Splice_Site SNP C C T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 3 62499312 62499312 C T SNP CADPS ENST00000283269 human ensembl 74_37 -1 known splice_site c.2650+1 e17+1 1.000 - - - no_errors CADPS HGNC ENSG00000163618 tier1 - - 51 0 0.00 20 18 47.37 123 0 0.00 71 32 31.07 TRRAP 0 genome.wustl.edu 37 7 98569420 98569420 + Splice_Site SNP A A G TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 7 98569420 98569420 A G SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known splice_site c.7672-2 e51-2 0.988 - - - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 81 0 0.00 39 8 17.02 190 0 0.00 101 38 27.34 TENM3 0 genome.wustl.edu 37 4 183268045 183268045 + Silent SNP A A G TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 4 183268045 183268045 A G SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.474 p.T158 0.997 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 45 0 0.00 2 17 89.47 140 0 0.00 16 71 81.61 CCDC74B 0 genome.wustl.edu 37 2 130900293 130900293 + Missense_Mutation SNP T T C TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 2 130900293 130900293 T C SNP CCDC74B ENST00000392984 human ensembl 74_37 -1 known missense c.263 p.Q88R 0.087 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 tier1 - - 41 0 0.00 36 6 14.29 34 0 0.00 24 8 25.00 CLINT1 0 genome.wustl.edu 37 5 157230696 157230696 + Missense_Mutation SNP T T A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 5 157230696 157230696 T A SNP CLINT1 ENST00000296951 human ensembl 74_37 -1 known missense c.920 p.D307V 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors CLINT1 HGNC ENSG00000113282 tier1 - - 62 0 0.00 31 8 20.00 126 0 0.00 60 13 17.81 ENSG00000258944 0 genome.wustl.edu 37 14 73739171 73739171 + R SNP C C T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 14 73739171 73739171 C T SNP ENSG00000258944 ENST00000556578 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-647C14.3 Clone_based_vega_gene ENSG00000258944 tier1 - - 14 0 0.00 12 4 25.00 79 0 0.00 73 24 24.74 TUBGCP5 0 genome.wustl.edu 37 15 22864212 22864212 + Missense_Mutation SNP A A T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 15 22864212 22864212 A T SNP TUBGCP5 ENST00000283645 human ensembl 74_37 +1 known missense c.2170 p.R724W 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP5 HGNC ENSG00000153575 tier1 - - 81 0 0.00 49 9 15.52 103 0 0.00 68 13 16.05 ABCA8 0 genome.wustl.edu 37 17 66877336 66877336 + Silent SNP T T C TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 17 66877336 66877336 T C SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known silent c.3963 p.L1321 0.993 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 tier1 - - 78 0 0.00 20 12 37.50 208 0 0.00 87 38 30.40 LEF1-AS1 0 genome.wustl.edu 37 4 109094633 109094633 + R DEL T T - TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 4 109094633 109094633 T - DEL LEF1-AS1 ENST00000436413 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LEF1-AS1 HGNC ENSG00000232021 tier1 43 0 0.00 33 5 13.16 61 0 0.00 50 7 12.28 SMCHD1 0 genome.wustl.edu 37 18 2740716 2740727 + In_Frame_Del DEL ATCAGTACGGAA ATCAGTACGGAA - TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 ATCAGTACGGAA ATCAGTACGGAA ATCAGTACGGAA - ATCAGTACGGAA ATCAGTACGGAA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 18 2740716 2740727 ATCAGTACGGAA - DEL SMCHD1 ENST00000320876 human ensembl 74_37 +1 known in_frame_del c.3530_3541 p.YGNQ1179in_frame_del 1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 tier1 132 0 0.00 32 17 34.69 132 0 0.00 32 17 34.69 PPHLN1 0 genome.wustl.edu 37 12 42836472 42836472 + Frame_Shift_Del DEL C C - TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 12 42836472 42836472 C - DEL PPHLN1 ENST00000395568 human ensembl 74_37 +1 known frame_shift_del c.1054 p.P353fs 0.319 NULL NULL - no_errors PPHLN1 HGNC ENSG00000134283 tier1 77 0 0.00 69 7 9.21 112 0 0.00 112 16 12.50 TMEM209 0 genome.wustl.edu 37 7 129845200 129845224 + Frame_Shift_Del DEL CCCGAAAACGCACCATGTCCTCTGG CCCGAAAACGCACCATGTCCTCTGG - TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 CCCGAAAACGCACCATGTCCTCTGG CCCGAAAACGCACCATGTCCTCTGG CCCGAAAACGCACCATGTCCTCTGG - CCCGAAAACGCACCATGTCCTCTGG CCCGAAAACGCACCATGTCCTCTGG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 7 129845200 129845224 CCCGAAAACGCACCATGTCCTCTGG - DEL TMEM209 ENST00000397622 human ensembl 74_37 -1 known frame_shift_del c.16_1 p.M1fs 0.997:1.000:0.999:0.984:0.992:0.992:0.996:1.000:1.000:1.000:1.000:1.000:1.000:0.990:0.710:0.588 NULL pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC ENSG00000146842 tier1 131 0 0.00 95 12 11.21 131 0 0.00 95 12 11.21 CASR 0 genome.wustl.edu 37 3 122002847 122002847 + Silent SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 3 122002847 122002847 G A SNP CASR ENST00000498619 human ensembl 74_37 +1 known silent c.2076 p.P692 0.016 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 tier1 - - 22 0 0.00 2 9 81.82 65 0 0.00 5 41 89.13 DPY19L1 0 genome.wustl.edu 37 7 35006559 35006559 + Missense_Mutation SNP C C A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 7 35006559 35006559 C A SNP DPY19L1 ENST00000310974 human ensembl 74_37 -1 known missense c.820 p.V274F 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC ENSG00000173852 tier1 - - 220 0 0.00 10 56 84.85 104 0 0.00 9 65 87.84 MSLNL 0 genome.wustl.edu 37 16 830643 830643 + Missense_Mutation SNP G G T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 16 830643 830643 G T SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known missense c.358 p.H120N 0.150 NULL pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 tier1 - - 49 0 0.00 14 27 65.85 60 0 0.00 6 28 82.35 NR4A3 0 genome.wustl.edu 37 9 102590467 102590467 + Missense_Mutation SNP C C T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 9 102590467 102590467 C T SNP NR4A3 ENST00000330847 human ensembl 74_37 +1 known missense c.176 p.T59M 0.845 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 tier1 - - 20 0 0.00 6 16 72.73 127 0 0.00 5 55 91.67 OR5M3 0 genome.wustl.edu 37 11 56237609 56237609 + Missense_Mutation SNP A A G TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 11 56237609 56237609 A G SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.365 p.M122T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 tier1 rs200070203 - 25 0 0.00 5 5 50.00 29 0 0.00 5 3 37.50 PLEKHG5 0 genome.wustl.edu 37 1 6530806 6530806 + Missense_Mutation SNP C C T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 1 6530806 6530806 C T SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.1768 p.V590I 0.965 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 tier1 - - 20 0 0.00 3 6 66.67 14 0 0.00 1 5 83.33 SCUBE3 0 genome.wustl.edu 37 6 35205748 35205748 + Missense_Mutation SNP C C A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 6 35205748 35205748 C A SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.830 p.T277N 1.000 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 tier1 - - 68 0 0.00 4 36 90.00 68 1 1.45 3 41 93.18 SLC38A10 0 genome.wustl.edu 37 17 79226885 79226885 + Missense_Mutation SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 17 79226885 79226885 G A SNP SLC38A10 ENST00000374759 human ensembl 74_37 -1 known missense c.1444 p.R482C 1.000 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 tier1 rs142761487 - 55 0 0.00 16 32 66.67 21 0 0.00 2 18 90.00 ZNF876P 0 genome.wustl.edu 37 4 248151 248151 + R SNP T T G TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 4 248151 248151 T G SNP ZNF876P ENST00000356347 human ensembl 74_37 +1 known rna NULL NULL 0.974 - - - no_errors ZNF876P HGNC ENSG00000198155 tier1 - - 47 0 0.00 16 14 46.67 40 0 0.00 9 13 59.09 CCNB3 0 genome.wustl.edu 37 X 50055541 50055541 + Missense_Mutation SNP C C T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e X 50055541 50055541 C T SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.3332 p.T1111I 0.003 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 tier1 - - 34 0 0.00 38 11 22.45 93 0 0.00 61 4 6.06 WDR17 0 genome.wustl.edu 37 4 177094499 177094499 + Nonsense_Mutation SNP T T G TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 4 177094499 177094499 T G SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known nonsense c.3443 p.L1148* 0.294 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 tier1 - - 98 0 0.00 72 7 8.86 158 0 0.00 77 6 7.23 TRAF7 0 genome.wustl.edu 37 16 2215902 2215902 + Missense_Mutation SNP G G T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 16 2215902 2215902 G T SNP TRAF7 ENST00000326181 human ensembl 74_37 +1 known missense c.104 p.G35V 0.993 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 tier1 - - 50 0 0.00 35 6 14.63 128 0 0.00 81 4 4.71 MYBPC3 0 genome.wustl.edu 37 11 47364235 47364235 + Silent SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 11 47364235 47364235 G A SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known silent c.1518 p.D506 0.919 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 tier1 - - 44 0 0.00 31 4 11.43 148 0 0.00 91 5 5.21 CPNE8 0 genome.wustl.edu 37 12 39079417 39079417 + Silent SNP A A G TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 12 39079417 39079417 A G SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known silent c.1146 p.N382 1.000 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 tier1 - - 59 0 0.00 47 5 9.62 101 0 0.00 115 11 8.73 ENSG00000268366 0 genome.wustl.edu 37 19 40949659 40949659 + R SNP C C G TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 19 40949659 40949659 C G SNP ENSG00000268366 ENST00000599050 human ensembl 74_37 +1 known rna NULL NULL 0.032 - - - no_errors CTC-492K19.4 Clone_based_vega_gene ENSG00000268366 tier1 - - 40 0 0.00 55 8 12.70 115 0 0.00 144 11 7.10 CELP 0 genome.wustl.edu 37 9 135962501 135962501 + R DEL G G - TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 9 135962501 135962501 G - DEL CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors CELP HGNC ENSG00000170827 tier1 8 0 0.00 6 5 45.45 15 1 6.25 3 9 75.00 FCGBP 0 genome.wustl.edu 37 19 40396215 40396215 + Silent SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 19 40396215 40396215 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.7182 p.H2394 0.017 smart_VWC_out,smart_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 16 0 0.00 11 5 31.25 5 0 0.00 8 1 11.11 CAD 0 genome.wustl.edu 37 7 45123761 45123761 + Missense_Mutation SNP C C T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 7 45123761 45123761 C T SNP CAD ENST00000490531 human ensembl 74_37 -1 known missense c.2018 p.G673D 0.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors CAD HGNC ENSG00000136274 tier1 - - 76 0 0.00 29 4 12.12 0 0 0.00 0 0 0.00 WDR45B 0 genome.wustl.edu 37 17 80606364 80606365 + R INS - - CGTGCGTG TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 17 80606364 80606365 - CGTGCGTG INS WDR45B ENST00000574828 human ensembl 74_37 -1 known rna NULL NULL 0.042:0.012 - - - no_errors WDR45B HGNC ENSG00000141580 tier1 4 0 0.00 1 1 50.00 4 0 0.00 1 1 50.00 ZSCAN1 0 genome.wustl.edu 37 19 58549417 58549417 + Silent SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 19 58549417 58549417 G A SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known silent c.213 p.A71 0.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 tier1 rs143287637 GMAF=0.0005 29 0 0.00 31 13 29.55 2 0 0.00 4 4 50.00 SLC35E2B 0 genome.wustl.edu 37 1 1607527 1607527 + Missense_Mutation SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 1 1607527 1607527 G A SNP SLC35E2B ENST00000234800 human ensembl 74_37 -1 known missense c.434 p.T145M 1.000 pfam_DMT,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA - no_errors SLC35E2B HGNC ENSG00000189339 tier1 - - 127 0 0.00 45 11 19.64 155 0 0.00 86 3 3.37 ZNF600 0 genome.wustl.edu 37 19 53270275 53270275 + Missense_Mutation SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 19 53270275 53270275 G A SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known missense c.734 p.S245F 0.019 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 tier1 - - 84 0 0.00 85 9 9.57 24 0 0.00 34 2 5.56 ENSG00000221696 0 genome.wustl.edu 37 9 32764361 32764361 + R SNP A A G TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 9 32764361 32764361 A G SNP ENSG00000221696 ENST00000408769 human ensembl 74_37 +1 novel rna NULL NULL 0.002 - - - no_errors AL157884.1 Clone_based_ensembl_gene ENSG00000221696 tier1 - - 49 0 0.00 48 5 9.43 68 0 0.00 52 2 3.70 ZNF600 0 genome.wustl.edu 37 19 53270247 53270247 + Silent SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 19 53270247 53270247 G A SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known silent c.762 p.I254 0.039 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 tier1 - - 76 0 0.00 96 11 10.28 16 0 0.00 35 3 7.89 ZNF600 0 genome.wustl.edu 37 19 53270527 53270527 + Missense_Mutation SNP G G A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 19 53270527 53270527 G A SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known missense c.482 p.S161F 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 tier1 - - 133 0 0.00 102 12 10.43 41 0 0.00 47 2 4.08 RAP1GDS1 0 genome.wustl.edu 37 4 99313196 99313205 + Frame_Shift_Del DEL TGTGTCTTGT TGTGTCTTGT - TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 TGTGTCTTGT TGTGTCTTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 4 99313196 99313205 TGTGTCTTGT - DEL RAP1GDS1 ENST00000339360 human ensembl 74_37 +1 known frame_shift_del c.605_614 p.C203fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.958:1.000:1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors RAP1GDS1 HGNC ENSG00000138698 tier1 186 0 0.00 113 2 1.74 186 0 0.00 113 2 1.74 NOC3L 0 genome.wustl.edu 37 10 96109108 96109134 + In_Frame_Del DEL TCACAGCTTCACAACACATTTCAGATA TCACAGCTTCACAACACATTTCAGATA - TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 TCACAGCTTCACAACACATTTCAGATA TCACAGCTTCACAACACATTTCAGATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55a38ea9-871b-482d-9404-6ac02887e21d bfc943c3-2cf7-44cf-ba20-26d7646ae59e 10 96109108 96109134 TCACAGCTTCACAACACATTTCAGATA - DEL NOC3L ENST00000371350 human ensembl 74_37 -1 known in_frame_del c.1156_1130 p.ISEMCCEAV377in_frame_del 0.984:0.526:0.997:0.998:0.981:1.000:1.000:0.980:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:0.995:1.000 superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 tier1 115 0 0.00 45 3 6.25 115 0 0.00 45 3 6.25