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 TBC1D1 0 genome.wustl.edu 37 4 37904119 37904119 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 4 37904119 37904119 G A SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known missense c.403 p.D135N 0.972 smart_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 tier1 - - 28 0 0.00 28 5 14.71 121 0 0.00 57 20 25.97 C7orf31 0 genome.wustl.edu 37 7 25191226 25191226 + Missense_Mutation SNP C C A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 7 25191226 25191226 C A SNP C7orf31 ENST00000283905 human ensembl 74_37 -1 known missense c.673 p.V225L 0.241 NULL NULL - no_errors C7orf31 HGNC ENSG00000153790 tier1 - - 214 0 0.00 280 34 10.83 86 0 0.00 97 15 13.39 UBBP4 0 genome.wustl.edu 37 17 21731081 21731081 + Missense_Mutation SNP A A G TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 17 21731081 21731081 A G SNP UBBP4 ENST00000578713 human ensembl 74_37 +1 putative missense c.383 p.D128G 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 tier1 - - 177 0 0.00 143 29 16.86 45 0 0.00 27 7 20.59 RYR3 0 genome.wustl.edu 37 15 34060884 34060884 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 15 34060884 34060884 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.8731 p.V2911I 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 94 0 0.00 70 27 27.84 134 0 0.00 62 8 11.43 MACROD2 0 genome.wustl.edu 37 20 15866410 15866410 + Silent SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 20 15866410 15866410 C T SNP MACROD2 ENST00000310348 human ensembl 74_37 +1 known silent c.729 p.D243 1.000 NULL pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom - no_errors MACROD2 HGNC ENSG00000172264 tier1 - - 104 0 0.00 120 50 29.41 77 0 0.00 53 21 28.38 EGFL6 0 genome.wustl.edu 37 X 13626473 13626473 + Missense_Mutation SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 X 13626473 13626473 C T SNP EGFL6 ENST00000380602 human ensembl 74_37 +1 known missense c.686 p.T229M 0.461 pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors EGFL6 HGNC ENSG00000198759 tier1 rs199623111 - 98 0 0.00 181 32 15.02 36 0 0.00 44 16 26.67 EFR3A 0 genome.wustl.edu 37 8 132957003 132957003 + Silent SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 8 132957003 132957003 G A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known silent c.99 p.V33 0.999 NULL superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 tier1 - - 245 0 0.00 240 63 20.79 76 0 0.00 80 15 15.79 CDSN 0 genome.wustl.edu 37 6 31084477 31084477 + Missense_Mutation SNP A A T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 6 31084477 31084477 A T SNP CDSN ENST00000376288 human ensembl 74_37 -1 known missense c.915 p.S305R 0.412 NULL NULL - no_errors CDSN HGNC ENSG00000204539 tier1 - - 44 0 0.00 31 8 20.51 101 0 0.00 36 12 25.00 ZNF17 0 genome.wustl.edu 37 19 57924999 57924999 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 19 57924999 57924999 G A SNP ZNF17 ENST00000307658 human ensembl 74_37 +1 putative missense c.16 p.G6R 0.001 superfamily_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 ZNF17 HGNC ENSG00000186272 tier1 - - 107 1 0.93 129 18 12.24 105 0 0.00 121 19 13.48 CD1A 0 genome.wustl.edu 37 1 158226589 158226589 + Silent SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 1 158226589 158226589 C T SNP CD1A ENST00000289429 human ensembl 74_37 +1 known silent c.618 p.A206 0.984 pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 tier1 - - 101 0 0.00 56 16 22.22 56 0 0.00 33 12 26.67 SLC9A7P1 0 genome.wustl.edu 37 12 98848980 98848980 + R SNP C C A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 12 98848980 98848980 C A SNP SLC9A7P1 ENST00000554295 human ensembl 74_37 -1 putative rna NULL NULL 0.538 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 tier1 - - 43 0 0.00 36 30 45.45 65 0 0.00 31 34 52.31 LAMA2 0 genome.wustl.edu 37 6 129380936 129380936 + Silent SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 6 129380936 129380936 C T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known silent c.291 p.H97 1.000 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SRE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 120 0 0.00 93 23 19.83 84 0 0.00 30 11 26.83 ANO5 0 genome.wustl.edu 37 11 22283767 22283767 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 11 22283767 22283767 G A SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known missense c.1723 p.V575I 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 tier1 - - 191 0 0.00 145 36 19.89 116 0 0.00 46 8 14.55 DENND2A 0 genome.wustl.edu 37 7 140301490 140301490 + Missense_Mutation SNP T T A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 7 140301490 140301490 T A SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.708 p.K236N 0.036 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 tier1 - - 56 0 0.00 62 11 15.07 66 0 0.00 57 11 16.18 UGT3A2 0 genome.wustl.edu 37 5 36049323 36049323 + Missense_Mutation SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 5 36049323 36049323 C T SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known missense c.511 p.G171S 0.001 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 tier1 - - 173 0 0.00 178 61 25.52 109 0 0.00 115 23 16.55 MUC17 0 genome.wustl.edu 37 7 100675057 100675057 + Missense_Mutation SNP A A T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 7 100675057 100675057 A T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.360 p.E120D 0.015 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 80 0 0.00 101 25 19.84 146 0 0.00 132 21 13.64 C1QTNF2 0 genome.wustl.edu 37 5 159776711 159776711 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 5 159776711 159776711 G A SNP C1QTNF2 ENST00000393975 human ensembl 74_37 -1 known missense c.457 p.R153C 0.973 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 tier1 - - 72 0 0.00 115 19 14.18 21 0 0.00 36 8 18.18 E2F5 0 genome.wustl.edu 37 8 86127289 86127289 + R SNP T T G TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 8 86127289 86127289 T G SNP E2F5 ENST00000519128 human ensembl 74_37 +1 known rna NULL NULL 0.159 - - - no_errors E2F5 HGNC ENSG00000133740 tier1 - - 65 0 0.00 24 15 38.46 56 0 0.00 14 6 30.00 NKX2-2-AS1 0 genome.wustl.edu 37 20 21492156 21492156 + R SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 20 21492156 21492156 G A SNP NKX2-2-AS1 ENST00000549659 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors NKX2-2-AS1 HGNC ENSG00000258197 tier1 - - 153 0 0.00 186 36 16.22 85 0 0.00 91 18 16.51 SEZ6L 0 genome.wustl.edu 37 22 26736438 26736438 + Silent SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 22 26736438 26736438 C T SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known silent c.2052 p.Y684 0.111 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 tier1 rs138699202 - 95 0 0.00 74 20 21.28 69 0 0.00 75 17 18.48 TMEM163 0 genome.wustl.edu 37 2 135470828 135470828 + Silent SNP T T A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 2 135470828 135470828 T A SNP TMEM163 ENST00000281924 human ensembl 74_37 -1 known silent c.264 p.A88 0.018 NULL NULL - no_errors TMEM163 HGNC ENSG00000152128 tier1 - - 91 0 0.00 75 7 8.54 98 0 0.00 65 11 14.47 STXBP2 0 genome.wustl.edu 37 19 7711208 7711208 + Missense_Mutation SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 19 7711208 7711208 C T SNP STXBP2 ENST00000221283 human ensembl 74_37 +1 known missense c.1430 p.P477L 0.993 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP2 HGNC ENSG00000076944 tier1 rs121918540 - 170 0 0.00 217 27 11.07 56 0 0.00 65 13 16.67 SNTG2 0 genome.wustl.edu 37 2 1204841 1204841 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 2 1204841 1204841 G A SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.644 p.R215H 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 tier1 rs202078642 - 44 0 0.00 39 11 22.00 70 0 0.00 35 10 22.22 GRIN1 0 genome.wustl.edu 37 9 140058109 140058109 + Missense_Mutation SNP A A G TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 9 140058109 140058109 A G SNP GRIN1 ENST00000371561 human ensembl 74_37 +1 known missense c.2432 p.E811G 1.000 pfam_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 tier1 - - 73 0 0.00 19 68 78.16 107 0 0.00 20 58 73.42 CAPN11 0 genome.wustl.edu 37 6 44137260 44137260 + Missense_Mutation SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 6 44137260 44137260 C T SNP CAPN11 ENST00000398776 human ensembl 74_37 +1 known missense c.331 p.R111W 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN11 HGNC ENSG00000137225 tier1 - - 50 0 0.00 17 38 69.09 133 1 0.75 30 77 71.96 UNC45B 0 genome.wustl.edu 37 17 33475325 33475325 + Missense_Mutation SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 17 33475325 33475325 C T SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known missense c.43 p.R15W 0.584 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 tier1 - - 142 0 0.00 97 22 18.49 120 0 0.00 79 35 30.70 SYCP2 0 genome.wustl.edu 37 20 58470515 58470515 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 20 58470515 58470515 G A SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known missense c.1642 p.H548Y 0.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 tier1 - - 107 0 0.00 106 20 15.87 29 0 0.00 10 4 28.57 ACTBL2 0 genome.wustl.edu 37 5 56777651 56777651 + Missense_Mutation SNP T T G TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 5 56777651 56777651 T G SNP ACTBL2 ENST00000423391 human ensembl 74_37 -1 known missense c.884 p.Y295S 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTBL2 HGNC ENSG00000169067 tier1 - - 51 0 0.00 71 16 18.39 62 0 0.00 78 13 14.13 NIT1 0 genome.wustl.edu 37 1 161089680 161089680 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 1 161089680 161089680 G A SNP NIT1 ENST00000368009 human ensembl 74_37 +1 known missense c.529 p.E177K 1.000 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT1 HGNC ENSG00000158793 tier1 - - 141 0 0.00 127 21 14.19 95 0 0.00 73 10 12.05 ZNF729 0 genome.wustl.edu 37 19 22499499 22499499 + Missense_Mutation SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 19 22499499 22499499 C T SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.3280 p.H1094Y 0.850 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 ZNF729 HGNC ENSG00000196350 tier1 - - 119 0 0.00 171 20 10.47 42 0 0.00 22 11 31.43 EFR3A 0 genome.wustl.edu 37 8 132957097 132957097 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 8 132957097 132957097 G A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known missense c.193 p.D65N 1.000 NULL superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 tier1 - - 220 0 0.00 252 49 16.28 98 0 0.00 85 16 15.84 ZDHHC15 0 genome.wustl.edu 37 X 74649796 74649796 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 X 74649796 74649796 G A SNP ZDHHC15 ENST00000373367 human ensembl 74_37 -1 known missense c.469 p.H157Y 1.000 pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC15 HGNC ENSG00000102383 tier1 - - 160 0 0.00 275 77 21.81 56 0 0.00 68 17 19.32 GOLGA6L2 0 genome.wustl.edu 37 15 23686793 23686793 + Missense_Mutation SNP G G T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 15 23686793 23686793 G T SNP GOLGA6L2 ENST00000312015 human ensembl 74_37 -1 known missense c.829 p.Q277K 0.006 prints_Tropomyosin prints_Tropomyosin - no_errors GOLGA6L2 HGNC ENSG00000174450 tier1 - - 119 1 0.83 59 54 47.37 22 0 0.00 12 5 29.41 C11orf63 0 genome.wustl.edu 37 11 122774688 122774688 + Missense_Mutation SNP A A T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 11 122774688 122774688 A T SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.400 p.S134C 0.753 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 tier1 - - 64 0 0.00 32 19 37.25 76 0 0.00 37 17 31.48 MAPT 0 genome.wustl.edu 37 17 44049253 44049253 + Missense_Mutation SNP C C A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 17 44049253 44049253 C A SNP MAPT ENST00000344290 human ensembl 74_37 +1 known missense c.162 p.D54E 0.951 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 tier1 - - 115 0 0.00 93 26 21.85 105 0 0.00 54 15 21.74 COL12A1 0 genome.wustl.edu 37 6 75893827 75893827 + Missense_Mutation SNP T T A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 6 75893827 75893827 T A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.1031 p.E344V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 76 0 0.00 70 22 23.91 119 0 0.00 37 12 24.49 IFNE 0 genome.wustl.edu 37 9 21481377 21481377 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 9 21481377 21481377 G A SNP IFNE ENST00000448696 human ensembl 74_37 -1 known missense c.317 p.T106M 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNE HGNC ENSG00000184995 tier1 rs147289613 - 60 0 0.00 43 9 17.31 117 0 0.00 77 17 18.09 ZPLD1 0 genome.wustl.edu 37 3 102187922 102187922 + Silent SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 3 102187922 102187922 C T SNP ZPLD1 ENST00000306176 human ensembl 74_37 +1 known silent c.924 p.V308 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors ZPLD1 HGNC ENSG00000170044 tier1 - - 131 0 0.00 123 26 17.45 63 0 0.00 35 8 18.60 SLC16A2 0 genome.wustl.edu 37 X 73641840 73641840 + Missense_Mutation SNP T T A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 X 73641840 73641840 T A SNP SLC16A2 ENST00000276033 human ensembl 74_37 +1 known missense c.590 p.I197N 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 tier1 - - 207 0 0.00 344 84 19.63 51 0 0.00 72 19 20.88 UPF2 0 genome.wustl.edu 37 10 11984753 11984753 + Missense_Mutation SNP T T C TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 10 11984753 11984753 T C SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known missense c.3289 p.I1097V 1.000 pfam_Up-fram_suppressor-2 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 tier1 - - 102 0 0.00 67 32 32.32 72 0 0.00 37 17 31.48 CDH19 0 genome.wustl.edu 37 18 64172372 64172372 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 18 64172372 64172372 G A SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known missense c.1996 p.R666W 0.048 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 tier1 - - 53 0 0.00 48 22 31.43 95 0 0.00 38 36 48.65 FAM13A 0 genome.wustl.edu 37 4 89660243 89660243 + Silent SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 4 89660243 89660243 G A SNP FAM13A ENST00000264344 human ensembl 74_37 -1 known silent c.2500 p.L834 0.092 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 tier1 - - 108 0 0.00 58 41 41.41 115 0 0.00 65 30 31.58 HSPBAP1 0 genome.wustl.edu 37 3 122459105 122459105 + R SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 3 122459105 122459105 C T SNP HSPBAP1 ENST00000471534 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HSPBAP1 HGNC ENSG00000169087 tier1 - - 43 0 0.00 15 6 28.57 82 0 0.00 43 8 15.69 BAI1 0 genome.wustl.edu 37 8 143566042 143566042 + Missense_Mutation SNP T T A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 8 143566042 143566042 T A SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.2225 p.F742Y 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 tier1 - - 171 0 0.00 168 30 15.15 47 0 0.00 39 10 20.00 NLRP4 0 genome.wustl.edu 37 19 56370522 56370522 + Missense_Mutation SNP T T C TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 19 56370522 56370522 T C SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.1763 p.V588A 0.001 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 NLRP4 HGNC ENSG00000160505 tier1 - - 101 0 0.00 152 21 12.14 190 0 0.00 160 26 13.98 GRIA1 0 genome.wustl.edu 37 5 153078482 153078482 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 5 153078482 153078482 G A SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.1331 p.R444H 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 tier1 - - 124 0 0.00 166 30 15.31 99 0 0.00 80 10 10.99 CHMP2B 0 genome.wustl.edu 37 3 87294950 87294950 + Silent SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 3 87294950 87294950 G A SNP CHMP2B ENST00000263780 human ensembl 74_37 +1 known silent c.213 p.Q71 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP2B HGNC ENSG00000083937 tier1 - - 198 0 0.00 302 72 19.25 97 0 0.00 95 26 21.49 C1orf173 0 genome.wustl.edu 37 1 75037896 75037896 + Silent SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 1 75037896 75037896 C T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known silent c.3498 p.S1166 0.003 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 rs200380141 - 41 0 0.00 33 5 13.16 93 0 0.00 53 10 15.87 UTRN 0 genome.wustl.edu 37 6 145157027 145157027 + Silent SNP A A G TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 6 145157027 145157027 A G SNP UTRN ENST00000367545 human ensembl 74_37 +1 known silent c.9777 p.E3259 0.992 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 tier1 - - 94 0 0.00 91 21 18.75 71 0 0.00 44 8 15.38 NCSTN 0 genome.wustl.edu 37 1 160325530 160325530 + Missense_Mutation SNP G G T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 1 160325530 160325530 G T SNP NCSTN ENST00000294785 human ensembl 74_37 +1 known missense c.1438 p.V480L 1.000 pfam_Nicastrin pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 tier1 - - 64 0 0.00 59 9 13.24 64 0 0.00 51 11 17.74 SCN9A 0 genome.wustl.edu 37 2 167133735 167133735 + Missense_Mutation SNP A A G TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 2 167133735 167133735 A G SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.2635 p.F879L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 184 0 0.00 127 38 23.03 99 0 0.00 34 12 26.09 OR13C3 0 genome.wustl.edu 37 9 107298240 107298240 + Silent SNP G G T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 9 107298240 107298240 G T SNP OR13C3 ENST00000374781 human ensembl 74_37 -1 known silent c.855 p.I285 0.929 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C3 HGNC ENSG00000204246 tier1 - - 88 0 0.00 83 15 15.31 57 0 0.00 26 6 18.75 EFR3A 0 genome.wustl.edu 37 8 132957010 132957010 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 8 132957010 132957010 G A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known missense c.106 p.D36N 0.986 NULL superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 tier1 - - 247 0 0.00 239 65 21.31 86 0 0.00 81 15 15.62 SALL3 0 genome.wustl.edu 37 18 76753935 76753935 + Silent SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 18 76753935 76753935 G A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known silent c.1944 p.P648 0.280 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 tier1 - - 38 0 0.00 17 5 22.73 31 0 0.00 37 9 19.57 GZMK 0 genome.wustl.edu 37 5 54329635 54329635 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 5 54329635 54329635 G A SNP GZMK ENST00000231009 human ensembl 74_37 +1 known missense c.676 p.A226T 0.988 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMK HGNC ENSG00000113088 tier1 rs200562138 - 157 0 0.00 177 78 30.47 88 1 1.12 74 38 33.93 A1CF 0 genome.wustl.edu 37 10 52573658 52573658 + Missense_Mutation SNP G G T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 10 52573658 52573658 G T SNP A1CF ENST00000282641 human ensembl 74_37 -1 known missense c.1306 p.P436T 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 tier1 - - 211 0 0.00 137 48 25.95 105 0 0.00 51 9 15.00 MUC16 0 genome.wustl.edu 37 19 9066657 9066657 + Missense_Mutation SNP G G T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 19 9066657 9066657 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.20789 p.T6930K 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 101 0 0.00 144 22 13.25 155 0 0.00 120 18 13.04 KLHL4 0 genome.wustl.edu 37 X 86890736 86890736 + Missense_Mutation SNP C C A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 X 86890736 86890736 C A SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known missense c.1886 p.A629D 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 tier1 - - 68 0 0.00 23 101 81.45 41 0 0.00 12 26 68.42 GIMAP8 0 genome.wustl.edu 37 7 150174480 150174480 + Missense_Mutation SNP T T A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 7 150174480 150174480 T A SNP GIMAP8 ENST00000307271 human ensembl 74_37 +1 known missense c.1610 p.F537Y 0.770 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 tier1 - - 93 0 0.00 170 23 11.92 167 0 0.00 150 35 18.82 CLASP2 0 genome.wustl.edu 37 3 33686773 33686773 + Splice_Site SNP C C G TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 3 33686773 33686773 C G SNP CLASP2 ENST00000313350 human ensembl 74_37 -1 known splice_site c.34+1 e1+1 1.000 - - - no_errors CLASP2 HGNC ENSG00000163539 tier1 - - 117 0 0.00 67 15 18.29 59 0 0.00 32 4 11.11 KYNU 0 genome.wustl.edu 37 2 143790838 143790838 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 2 143790838 143790838 G A SNP KYNU ENST00000264170 human ensembl 74_37 +1 known missense c.989 p.R330Q 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 tier1 rs142934146 - 208 0 0.00 80 76 48.72 111 0 0.00 34 25 41.67 CSE1L 0 genome.wustl.edu 37 20 47707377 47707377 + Splice_Site SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 20 47707377 47707377 G A SNP CSE1L ENST00000262982 human ensembl 74_37 +1 known splice_site c.2279+1 e19+1 1.000 - - - no_errors CSE1L HGNC ENSG00000124207 tier1 - - 102 0 0.00 87 20 18.69 84 0 0.00 62 16 20.51 CTBP2 0 genome.wustl.edu 37 10 126686543 126686543 + Silent SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 10 126686543 126686543 G A SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known silent c.2175 p.L725 1.000 pfam_D-isomer_2_OHA_DH_D-bd,pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_D-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 tier1 - - 118 0 0.00 53 20 27.40 12 0 0.00 11 4 26.67 ZNF25 0 genome.wustl.edu 37 10 38241130 38241130 + Silent SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 10 38241130 38241130 C T SNP ZNF25 ENST00000302609 human ensembl 74_37 -1 known silent c.1296 p.G432 0.768 pfam_Znf_C2H2,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 ZNF25 HGNC ENSG00000175395 tier1 - - 38 0 0.00 14 9 39.13 60 0 0.00 57 11 16.18 NIT1 0 genome.wustl.edu 37 1 161089713 161089713 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 1 161089713 161089713 G A SNP NIT1 ENST00000368009 human ensembl 74_37 +1 known missense c.562 p.E188K 0.253 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT1 HGNC ENSG00000158793 tier1 - - 130 0 0.00 124 12 8.82 87 0 0.00 54 10 15.62 POGZ 0 genome.wustl.edu 37 1 151384868 151384868 + Missense_Mutation SNP C C A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 1 151384868 151384868 C A SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.1683 p.K561N 1.000 smart_Znf_C2H2-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_D-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_D-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 tier1 - - 119 0 0.00 32 34 51.52 140 0 0.00 27 28 50.91 EFR3A 0 genome.wustl.edu 37 8 132957051 132957051 + Silent SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 8 132957051 132957051 G A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known silent c.147 p.E49 1.000 NULL superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 tier1 - - 216 0 0.00 221 59 21.07 106 0 0.00 99 23 18.85 METTL25 0 genome.wustl.edu 37 12 82752386 82752386 + Silent SNP C C G TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 12 82752386 82752386 C G SNP METTL25 ENST00000248306 human ensembl 74_37 +1 known silent c.42 p.P14 0.058 NULL NULL - no_errors METTL25 HGNC ENSG00000127720 tier1 - - 68 0 0.00 68 12 15.00 22 0 0.00 29 7 19.44 ARHGAP30 0 genome.wustl.edu 37 1 161018648 161018648 + Silent SNP T T C TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 1 161018648 161018648 T C SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known silent c.2163 p.K721 0.010 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 tier1 - - 115 0 0.00 79 39 33.05 78 0 0.00 40 37 48.05 PIM2 0 genome.wustl.edu 37 X 48771549 48771549 + Silent SNP C C A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 X 48771549 48771549 C A SNP PIM2 ENST00000376509 human ensembl 74_37 -1 known silent c.795 p.R265 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PIM2 HGNC ENSG00000102096 tier1 - - 103 0 0.00 146 52 26.26 43 0 0.00 62 18 22.50 RASGRF1 0 genome.wustl.edu 37 15 79310205 79310205 + Silent SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 15 79310205 79310205 G A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known silent c.1650 p.I550 0.430 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 tier1 - - 194 0 0.00 186 35 15.84 130 0 0.00 85 14 14.14 PEG3 0 genome.wustl.edu 37 19 57326959 57326959 + Missense_Mutation SNP C C A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 19 57326959 57326959 C A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.2851 p.V951L 0.566 NULL pfam_Znf_C2H2,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 PEG3 HGNC ENSG00000198300 tier1 - - 97 0 0.00 99 61 38.12 107 0 0.00 79 32 28.83 TP53 0 genome.wustl.edu 37 17 7578176 7578176 + Splice_Site SNP C C A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 17 7578176 7578176 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.672+1 e5+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 148 0 0.00 41 168 80.38 114 0 0.00 18 100 84.75 ROCK1P1 0 genome.wustl.edu 37 18 117148 117148 + R SNP C C A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 18 117148 117148 C A SNP ROCK1P1 ENST00000576266 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ROCK1P1 HGNC ENSG00000263006 tier1 - - 203 0 0.00 183 34 15.67 141 0 0.00 119 23 16.08 PPP1R2P1 0 genome.wustl.edu 37 6 32847349 32847349 + R SNP C C G TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 6 32847349 32847349 C G SNP PPP1R2P1 ENST00000420261 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors PPP1R2P1 HGNC ENSG00000234515 tier1 - - 144 0 0.00 94 16 14.55 14 0 0.00 10 4 28.57 TBC1D32 0 genome.wustl.edu 37 6 121544380 121544385 + Splice_Site DEL ACAATA ACAATA - TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 ACAATA ACAATA ACAATA - ACAATA ACAATA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 6 121544380 121544385 ACAATA - DEL TBC1D32 ENST00000464622 human ensembl 74_37 -1 known splice_site_del c.327+5_0 e4-1 1.000:0.999:0.878:0.870:0.829:0.780 - - - no_errors TBC1D32 HGNC ENSG00000146350 tier1 86 0 0.00 40 14 25.93 86 0 0.00 40 14 25.93 ENSG00000269939 0 genome.wustl.edu 37 11 82896849 82896852 + R DEL TTCT TTCT - TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 TTCT TTCT TTCT - TTCT TTCT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 11 82896849 82896852 TTCT - DEL ENSG00000269939 ENST00000602322 human ensembl 74_37 -1 known rna NULL NULL 0.986:0.999:1.000:1.000 - - - no_errors RP11-727A23.11 Clone_based_vega_gene ENSG00000269939 tier1 114 0 0.00 50 57 53.27 80 0 0.00 20 27 57.45 MASP1 0 genome.wustl.edu 37 3 186974575 186974575 + Frame_Shift_Del DEL G G - TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 3 186974575 186974575 G - DEL MASP1 ENST00000296280 human ensembl 74_37 -1 known frame_shift_del c.621 p.K208fs 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 tier1 67 0 0.00 77 12 13.48 125 0 0.00 88 26 22.81 PEPLD 0 genome.wustl.edu 37 7 102760459 102760459 + Frame_Shift_Del DEL G G - TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 7 102760459 102760459 G - DEL PEPLD ENST00000455523 human ensembl 74_37 -1 known frame_shift_del c.725 p.P242fs 1.000 NULL NULL - no_errors PEPLD HGNC ENSG00000161048 tier1 86 0 0.00 113 17 13.08 124 0 0.00 132 20 13.16 KIFC3 0 genome.wustl.edu 37 16 57832148 57832148 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 16 57832148 57832148 G A SNP KIFC3 ENST00000379655 human ensembl 74_37 -1 known missense c.8 p.P3L 0.995 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 tier1 - - 14 0 0.00 18 8 30.77 8 0 0.00 2 3 60.00 PCDHA8 0 genome.wustl.edu 37 5 140223088 140223088 + Missense_Mutation SNP A A C TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 5 140223088 140223088 A C SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.2182 p.T728P 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 - - 94 0 0.00 99 22 18.18 21 0 0.00 9 2 18.18 ZFHX3 0 genome.wustl.edu 37 16 72827758 72827758 + Silent SNP T T A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 16 72827758 72827758 T A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.8823 p.G2941 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 - - 35 0 0.00 14 25 21.19 32 0 0.00 9 17 22.37 ZNF716 0 genome.wustl.edu 37 7 57529220 57529220 + Silent SNP C C G TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 7 57529220 57529220 C G SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known silent c.1053 p.L351 0.772 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 ZNF716 HGNC ENSG00000182111 tier1 - - 94 0 0.00 102 54 34.62 16 0 0.00 8 4 33.33 TXNRD1 0 genome.wustl.edu 37 12 104725408 104725408 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 12 104725408 104725408 G A SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known missense c.1639 p.E547K 1.000 pfam_Pyr_nucl-diS_OxRdtase_dimer,superfamily_FAD/D-linked_Rdtase_dimer,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_D-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/D-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 tier1 - - 257 0 0.00 336 31 8.45 116 0 0.00 102 4 3.77 FDXR 0 genome.wustl.edu 37 17 72860089 72860089 + Missense_Mutation SNP T T C TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 17 72860089 72860089 T C SNP FDXR ENST00000581530 human ensembl 74_37 -1 known missense c.1121 p.D374G 0.996 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/D - no_errors FDXR HGNC ENSG00000161513 tier1 - - 79 0 0.00 83 17 16.83 84 0 0.00 93 8 7.92 FDXR 0 genome.wustl.edu 37 17 72860090 72860090 + Missense_Mutation SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 17 72860090 72860090 C T SNP FDXR ENST00000581530 human ensembl 74_37 -1 known missense c.1120 p.D374N 0.976 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/D - no_errors FDXR HGNC ENSG00000161513 tier1 - - 77 0 0.00 82 16 16.33 84 0 0.00 93 9 8.82 MX1 0 genome.wustl.edu 37 21 42808961 42808961 + Silent SNP G G T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 21 42808961 42808961 G T SNP MX1 ENST00000398598 human ensembl 74_37 +1 known silent c.318 p.P106 0.911 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX1 HGNC ENSG00000157601 tier1 - - 157 0 0.00 108 14 11.48 120 1 0.83 112 12 9.68 AKAP6 0 genome.wustl.edu 37 14 33291068 33291068 + Missense_Mutation SNP C C A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 14 33291068 33291068 C A SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.4049 p.A1350E 0.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 51 0 0.00 92 14 13.21 62 0 0.00 152 10 6.17 VWF 0 genome.wustl.edu 37 12 6131103 6131103 + Missense_Mutation SNP T T C TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 12 6131103 6131103 T C SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.3637 p.T1213A 1.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 330 0 0.00 405 71 14.79 86 0 0.00 83 8 8.70 DOCK5 0 genome.wustl.edu 37 8 25209283 25209283 + Missense_Mutation SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 8 25209283 25209283 C T SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.2791 p.R931W 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 tier1 - - 116 0 0.00 90 11 10.78 113 0 0.00 88 6 6.38 RNLS 0 genome.wustl.edu 37 10 90034752 90034752 + Missense_Mutation SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 10 90034752 90034752 C T SNP RNLS ENST00000371947 human ensembl 74_37 -1 known missense c.914 p.S305N 0.001 NULL pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 tier1 - - 81 0 0.00 55 8 12.50 77 0 0.00 81 7 7.95 SEL1L2 0 genome.wustl.edu 37 20 13830169 13830169 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 20 13830169 13830169 G A SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known missense c.2029 p.P677S 0.450 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 tier1 - - 180 1 0.55 223 32 12.50 167 0 0.00 221 24 9.68 PAPPA2 0 genome.wustl.edu 37 1 176679192 176679192 + Silent SNP A A G TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 1 176679192 176679192 A G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.3531 p.V1177 0.002 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 100 0 0.00 141 19 11.88 118 0 0.00 112 12 9.68 CDH10 0 genome.wustl.edu 37 5 24509886 24509886 + Missense_Mutation SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 5 24509886 24509886 C T SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.1045 p.E349K 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 tier1 rs138533676 - 114 0 0.00 170 23 11.92 72 0 0.00 97 8 7.62 ABCA13 0 genome.wustl.edu 37 7 48312581 48312581 + Silent SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 7 48312581 48312581 C T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.3318 p.H1106 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 101 0 0.00 119 19 13.77 101 0 0.00 73 8 9.88 ZSCAN1 0 genome.wustl.edu 37 19 58549273 58549273 + Silent SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 19 58549273 58549273 C T SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known silent c.69 p.D23 0.000 NULL 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 - - 60 0 0.00 47 5 9.62 13 0 0.00 8 0 0.00 ENSG00000267219 0 genome.wustl.edu 37 19 34849728 34849729 + R INS - - TTGGGAGGCCAAG TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 19 34849728 34849729 - TTGGGAGGCCAAG INS ENSG00000267219 ENST00000591311 human ensembl 74_37 -1 known rna NULL NULL 0.005:0.003 - - - no_errors AC010504.2 Clone_based_vega_gene ENSG00000267219 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 EOMES 0 genome.wustl.edu 37 3 27763427 27763428 + In_Frame_Ins INS - - CGGCGC TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 3 27763427 27763428 - CGGCGC INS EOMES ENST00000449599 human ensembl 74_37 -1 known in_frame_ins c.359_358 p.120in_frame_insGA 0.116:0.075 NULL pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors EOMES HGNC ENSG00000163508 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 KRTAP9-2 0 genome.wustl.edu 37 17 39383043 39383043 + Missense_Mutation SNP G G T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 17 39383043 39383043 G T SNP KRTAP9-2 ENST00000377721 human ensembl 74_37 +1 known missense c.137 p.S46I 1.000 NULL NULL - no_errors KRTAP9-2 HGNC ENSG00000239886 tier1 - - 231 0 0.00 136 40 22.60 3 0 0.00 3 0 0.00 LOC100507033 0 genome.wustl.edu 37 3 194219220 194219221 + R INS - - TTTTG TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 3 194219220 194219221 - TTTTG INS LOC100507033 ENST00000455557 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC108676.1 Clone_based_vega_gene ENSG00000244675 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 MT-ATP8 0 genome.wustl.edu 37 MT 8418 8418 + Missense_Mutation SNP T T C TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 MT 8418 8418 T C SNP MT-ATP8 ENST00000361851 human ensembl 74_37 +1 known missense c.53 p.L18P NULL pfam_ATPase_F0-cplx_su8_mt_metazoan pfam_ATPase_F0-cplx_su8_mt_metazoan - no_errors MT-ATP8 HGNC ENSG00000228253 tier1 - - 25 0 0.00 16 4 20.00 2 0 0.00 2 0 0.00 NCOR2 0 genome.wustl.edu 37 12 124856967 124856967 + Missense_Mutation SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 12 124856967 124856967 G A SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.2408 p.T803I 0.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 31 0 0.00 18 4 18.18 0 0 0.00 0 0 0.00 RPLP2 0 genome.wustl.edu 37 11 810010 810018 + R DEL CTCCGCCGC CTCCGCCGC - TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 CTCCGCCGC CTCCGCCGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 11 810010 810018 CTCCGCCGC - DEL RPLP2 ENST00000532004 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.006:0.006:0.009:0.013:0.013:0.025:0.024 - - - no_errors RPLP2 HGNC ENSG00000177600 tier1 4 0 0.00 1 0 0.00 4 0 0.00 1 0 0.00 UFL1 0 genome.wustl.edu 37 6 96969559 96969578 + R DEL AACCCCCAGCGCCGCGGTAC AACCCCCAGCGCCGCGGTAC - TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 AACCCCCAGCGCCGCGGTAC AACCCCCAGCGCCGCGGTAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 6 96969559 96969578 AACCCCCAGCGCCGCGGTAC - DEL UFL1 ENST00000461673 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.000:0.001:0.001:0.003:0.006:0.006:0.002:0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors UFL1 HGNC ENSG00000014123 tier1 2 0 0.00 1 0 0.00 2 0 0.00 1 0 0.00 ENSG00000273433 0 genome.wustl.edu 37 7 27192088 27192089 + R INS - - GGCCT TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 7 27192088 27192089 - GGCCT INS ENSG00000273433 ENST00000467897 human ensembl 74_37 -1 known rna NULL NULL 0.007:0.074 - - - no_errors RP1-170O19.22 Clone_based_vega_gene ENSG00000273433 tier1 2 0 0.00 4 7 63.64 2 0 0.00 4 7 63.64 SELM 0 genome.wustl.edu 37 22 31503500 31503500 + R SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 22 31503500 31503500 G A SNP SELM ENST00000460642 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors SELM Uniprot_gn ENSG00000198832 tier1 - - 47 0 0.00 59 9 13.24 2 0 0.00 5 2 28.57 DPY19L3 0 genome.wustl.edu 37 19 32927362 32927362 + Silent SNP C C T TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 19 32927362 32927362 C T SNP DPY19L3 ENST00000342179 human ensembl 74_37 +1 known silent c.339 p.G113 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L3 HGNC ENSG00000178904 tier1 - - 236 0 0.00 310 65 17.33 105 0 0.00 67 2 2.90 TMTC2 0 genome.wustl.edu 37 12 83455574 83455574 + Silent SNP G G A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 12 83455574 83455574 G A SNP TMTC2 ENST00000321196 human ensembl 74_37 +1 known silent c.2295 p.E765 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 tier1 - - 99 0 0.00 131 21 13.82 46 0 0.00 37 3 7.50 COBLL1 0 genome.wustl.edu 37 2 165551295 165551296 + Frame_Shift_Ins INS - - A TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 2 165551295 165551296 - A INS COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_ins c.2922_2921 p.L974fs 0.958:0.972 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 tier1 95 0 0.00 48 5 9.43 53 0 0.00 35 2 5.41 ASIC2 0 genome.wustl.edu 37 17 31348283 31348285 + In_Frame_Del DEL ATA ATA - TCGA-DX-AB2V-01A-11D-A417-09 TCGA-DX-AB2V-10A-01D-A41A-09 ATA ATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7b2aef-6971-4bfc-a6d8-0cdce906213e 0cd670fd-cc01-4335-9b59-a21f57dd6b99 17 31348283 31348285 ATA - DEL ASIC2 ENST00000225823 human ensembl 74_37 -1 known in_frame_del c.1395_1393 p.Y465in_frame_del 1.000:1.000:1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 tier1 79 0 0.00 67 16 19.28 75 0 0.00 41 2 4.65