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 ACTR2 10097 genome.wustl.edu 37 2 65473736 65473736 + Nonsense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 65473736 65473736 C T SNP ACTR2 ENST00000377982 human ensembl 70_37 +1 known nonsense c.253 p.R85* 0.990 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTR2 HGNC ADH6 130 genome.wustl.edu 37 4 100129851 100129851 + Nonsense_Mutation SNP C C A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 100129851 100129851 C A SNP ADH6 ENST00000394899 human ensembl 70_37 -1 known nonsense c.802 p.E268* 1.000 pfam_ADH_C,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH6 HGNC ANAPC7 51434 genome.wustl.edu 37 12 110819749 110819749 + Missense_Mutation SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 12 110819749 110819749 G C SNP ANAPC7 ENST00000455511 human ensembl 70_37 -1 known missense c.1042 p.H348D 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ANAPC7 HGNC ARID2 196528 genome.wustl.edu 37 12 46245832 46245832 + Nonsense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 12 46245832 46245832 C G SNP ARID2 ENST00000334344 human ensembl 70_37 +1 known nonsense c.3926 p.S1309* 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ARID2 196528 genome.wustl.edu 37 12 46246080 46246080 + Missense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 12 46246080 46246080 C G SNP ARID2 ENST00000334344 human ensembl 70_37 +1 known missense c.4174 p.P1392A 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ATF7IP 55729 genome.wustl.edu 37 12 14613980 14613980 + Nonsense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 12 14613980 14613980 C T SNP ATF7IP ENST00000261168 human ensembl 70_37 +1 known nonsense c.2710 p.R904* 0.992 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ATG9B 285973 genome.wustl.edu 37 7 150721408 150721408 + RNA SNP G G T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 7 150721408 150721408 G T SNP ATG9B ENST00000377974 human ensembl 70_37 -1 known rna NULL NULL 0.935 - - - no_errors ATG9B HGNC BATF 10538 genome.wustl.edu 37 14 76012949 76012949 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 14 76012949 76012949 G A SNP BATF ENST00000286639 human ensembl 70_37 +1 known missense c.313 p.E105K 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors BATF HGNC CALN1 83698 genome.wustl.edu 37 7 71252834 71252834 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 7 71252834 71252834 C T SNP CALN1 ENST00000395275 human ensembl 70_37 -1 known missense c.712 p.A238T 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALN1 HGNC CARM1 10498 genome.wustl.edu 37 19 11015736 11015736 + Missense_Mutation SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 11015736 11015736 G C SNP CARM1 ENST00000327064 human ensembl 70_37 +1 known missense c.330 p.Q110H 1.000 pfam_Histone-Arg_MeTrfase_N pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11 - no_errors CARM1 HGNC CBX8 57332 genome.wustl.edu 37 17 77768758 77768758 + Frame_Shift_Del DEL G G - TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 17 77768758 77768758 G - DEL CBX8 ENST00000269385 human ensembl 70_37 -1 known frame_shift_del c.846 p.R283fs 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC CCDC175 729665 genome.wustl.edu 37 14 60004827 60004827 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 14 60004827 60004827 C T SNP CCDC175 ENST00000281581 human ensembl 70_37 -1 known missense c.1537 p.E513K 0.117 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC COL5A3 50509 genome.wustl.edu 37 19 10088308 10088308 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 10088308 10088308 C T SNP COL5A3 ENST00000264828 human ensembl 70_37 -1 known missense c.3088 p.E1030K 0.147 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC DACT1 51339 genome.wustl.edu 37 14 59113812 59113812 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 14 59113812 59113812 G A SNP DACT1 ENST00000335867 human ensembl 70_37 +1 known missense c.2471 p.R824H 1.000 NULL NULL - no_errors DACT1 HGNC DCHS2 54798 genome.wustl.edu 37 4 155155736 155155736 + Silent SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 155155736 155155736 G A SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known silent c.8703 p.I2901 0.000 NULL pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC DNAAF1 123872 genome.wustl.edu 37 16 84199549 84199549 + Missense_Mutation SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 16 84199549 84199549 G C SNP DNAAF1 ENST00000378553 human ensembl 70_37 +1 known missense c.1024 p.E342Q 0.704 NULL NULL - no_errors DNAAF1 HGNC DNAH8 1769 genome.wustl.edu 37 6 38840902 38840902 + Silent SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 6 38840902 38840902 C T SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known silent c.6807 p.L2269 0.556 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC DSCAM 1826 genome.wustl.edu 37 21 41516627 41516627 + Missense_Mutation SNP A A G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 21 41516627 41516627 A G SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known missense c.3050 p.I1017T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC EIF1AX 1964 genome.wustl.edu 37 X 20156734 20156734 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd X 20156734 20156734 C T SNP EIF1AX ENST00000379607 human ensembl 70_37 -1 known missense c.23 p.G8E 1.000 superfamily_NA-bd_OB-fold-like pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold-like,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1,tigrfam_TIF_eIF-1A - no_errors EIF1AX HGNC ENSG00000232783 0 genome.wustl.edu 37 3 197838353 197838353 + RNA SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 3 197838353 197838353 G C SNP ENSG00000232783 ENST00000419104 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000244117 0 genome.wustl.edu 37 7 63539443 63539443 + RNA SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 7 63539443 63539443 G A SNP ENSG00000244117 ENST00000430271 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors RP11-3N2.1 Clone_based_vega_gene ENSG00000268194 0 genome.wustl.edu 37 2 121223347 121223347 + Missense_Mutation SNP G G T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 121223347 121223347 G T SNP ENSG00000268194 ENST00000593290 human ensembl 70_37 -1 known missense c.340 p.L114M 0.000 NULL NULL - no_errors FLJ14816 Uniprot_genename EPHA5 2044 genome.wustl.edu 37 4 66189873 66189873 + Missense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 66189873 66189873 C G SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known missense c.3073 p.E1025Q 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ERC2 26059 genome.wustl.edu 37 3 55543687 55543687 + RNA SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 3 55543687 55543687 C T SNP ERC2 ENST00000484530 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ERC2 HGNC FASTK 10922 genome.wustl.edu 37 7 150774001 150774001 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 7 150774001 150774001 G A SNP FASTK ENST00000297532 human ensembl 70_37 -1 known missense c.1541 p.P514L 1.000 pfam_RAP,smart_RAP pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC FBXO41 150726 genome.wustl.edu 37 2 73491609 73491609 + Missense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 73491609 73491609 C G SNP FBXO41 ENST00000295133 human ensembl 70_37 -1 known missense c.1786 p.E596Q 0.990 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO41 HGNC GALC 2581 genome.wustl.edu 37 14 88452831 88452831 + Splice_Site SNP A A G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 14 88452831 88452831 A G SNP GALC ENST00000261304 human ensembl 70_37 -1 known splice_site c.442+2 e4+2 1.000 - - - no_errors GALC HGNC GLIS3 169792 genome.wustl.edu 37 9 3827920 3827920 + RNA SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 9 3827920 3827920 G A SNP GLIS3 ENST00000461870 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors GLIS3 HGNC GPC5 2262 genome.wustl.edu 37 13 92380901 92380901 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 13 92380901 92380901 C T SNP GPC5 ENST00000377067 human ensembl 70_37 +1 known missense c.1136 p.T379M 0.992 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC HELT 391723 genome.wustl.edu 37 4 185940974 185940975 + Frame_Shift_Ins INS - - T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 185940974 185940975 - T INS HELT ENST00000338875 human ensembl 70_37 +1 known frame_shift_ins c.461_462 p.P156fs 1.000:0.997 smart_HLH_dom pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,pfscan_Orange,pfscan_HLH_dom - no_errors HELT HGNC HELT 391723 genome.wustl.edu 37 4 185940979 185940979 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 185940979 185940979 C T SNP HELT ENST00000338875 human ensembl 70_37 +1 known missense c.466 p.P156S 1.000 smart_HLH_dom pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,pfscan_Orange,pfscan_HLH_dom - no_errors HELT HGNC HLA-B 3106 genome.wustl.edu 37 6 31324878 31324879 + Frame_Shift_Ins INS - - CA TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 6 31324878 31324879 - CA INS HLA-B ENST00000412585 human ensembl 70_37 -1 known frame_shift_ins c.58_57 p.T19fs 0.202:0.408 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC HSD17B4 3295 genome.wustl.edu 37 5 118813176 118813176 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 5 118813176 118813176 G A SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.414 p.M138I 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC IL16 3603 genome.wustl.edu 37 15 81517900 81517900 + Missense_Mutation SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 15 81517900 81517900 G C SNP IL16 ENST00000302987 human ensembl 70_37 +1 known missense c.160 p.E54Q 0.997 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Interleukin-16 - no_errors IL16 HGNC IL1F10 84639 genome.wustl.edu 37 2 113832909 113832909 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 113832909 113832909 C T SNP IL1F10 ENST00000337569 human ensembl 70_37 +1 known missense c.427 p.R143C 0.231 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_InterleukinIL1B - no_errors IL1F10 HGNC IL4R 3566 genome.wustl.edu 37 16 27352391 27352391 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 16 27352391 27352391 G A SNP IL4R ENST00000563926 human ensembl 70_37 +1 known missense c.71 p.G24E 0.029 NULL NULL - no_errors IL4R HGNC IPO11 51194 genome.wustl.edu 37 5 61747703 61747703 + Silent SNP T T C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 5 61747703 61747703 T C SNP IPO11 ENST00000409296 human ensembl 70_37 +1 known silent c.579 p.H193 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC JMJD1C 221037 genome.wustl.edu 37 10 64953104 64953104 + Splice_Site SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 10 64953104 64953104 C G SNP JMJD1C ENST00000399262 human ensembl 70_37 -1 known splice_site c.5862+1 e15+1 1.000 - - - no_errors JMJD1C HGNC KAT6A 7994 genome.wustl.edu 37 8 41798922 41798922 + Missense_Mutation SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 8 41798922 41798922 G C SNP KAT6A ENST00000265713 human ensembl 70_37 -1 known missense c.2477 p.S826C 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC KCNJ14 3770 genome.wustl.edu 37 19 48965361 48965361 + Missense_Mutation SNP G G T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 48965361 48965361 G T SNP KCNJ14 ENST00000342291 human ensembl 70_37 +1 known missense c.380 p.C127F 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir - no_errors KCNJ14 HGNC KIAA1009 22832 genome.wustl.edu 37 6 84884962 84884962 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 6 84884962 84884962 C T SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.1768 p.E590K 0.138 NULL NULL - no_errors KIAA1009 HGNC LILRB3 11025 genome.wustl.edu 37 19 54726628 54726628 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 54726628 54726628 C T SNP LILRB3 ENST00000346401 human ensembl 70_37 -1 known missense c.61 p.V21M 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB3 HGNC LMBRD1 55788 genome.wustl.edu 37 6 70462177 70462177 + Missense_Mutation SNP C C A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 6 70462177 70462177 C A SNP LMBRD1 ENST00000370577 human ensembl 70_37 -1 known missense c.379 p.D127Y 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC LINC00948 100507027 genome.wustl.edu 37 10 61496974 61496974 + RNA SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 10 61496974 61496974 G A SNP M1 ENST00000414264 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors RP11-59J5.1 Clone_based_vega_gene MAN2B2 23324 genome.wustl.edu 37 4 6596327 6596327 + Missense_Mutation SNP A A T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 6596327 6596327 A T SNP MAN2B2 ENST00000285599 human ensembl 70_37 +1 known missense c.925 p.I309F 1.000 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC MED25 81857 genome.wustl.edu 37 19 50338793 50338793 + Missense_Mutation SNP G G T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 50338793 50338793 G T SNP MED25 ENST00000312865 human ensembl 70_37 +1 known missense c.1677 p.M559I 1.000 NULL pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC MIR4485 100616263 genome.wustl.edu 37 MT 3221 3221 + RNA SNP A A G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd MT 3221 3221 A G SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC MTTP 4547 genome.wustl.edu 37 4 100530023 100530023 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 100530023 100530023 C T SNP MTTP ENST00000265517 human ensembl 70_37 +1 known missense c.1658 p.S553F 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC MUS81 80198 genome.wustl.edu 37 11 65629694 65629694 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 11 65629694 65629694 C T SNP MUS81 ENST00000308110 human ensembl 70_37 +1 known missense c.463 p.H155Y 0.006 NULL pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_ERCC4_domain - no_errors MUS81 HGNC MYO15A 51168 genome.wustl.edu 37 17 18023395 18023395 + Silent SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 17 18023395 18023395 C T SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known silent c.1281 p.H427 0.996 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC NEXN 91624 genome.wustl.edu 37 1 78408216 78408216 + Missense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 1 78408216 78408216 C G SNP NEXN ENST00000334785 human ensembl 70_37 +1 known missense c.1730 p.T577S 1.000 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors NEXN HGNC NOVA1 4857 genome.wustl.edu 37 14 27066575 27066575 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 14 27066575 27066575 G A SNP NOVA1 ENST00000539517 human ensembl 70_37 -1 known missense c.68 p.P23L 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC NUFIP1 26747 genome.wustl.edu 37 13 45515443 45515443 + Missense_Mutation SNP G G T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 13 45515443 45515443 G T SNP NUFIP1 ENST00000379161 human ensembl 70_37 -1 known missense c.1386 p.D462E 1.000 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC NXF1 10482 genome.wustl.edu 37 11 62572855 62572855 + RNA SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 11 62572855 62572855 C T SNP NXF1 ENST00000526163 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors NXF1 HGNC OFD1 8481 genome.wustl.edu 37 X 13778396 13778396 + Nonsense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd X 13778396 13778396 C G SNP OFD1 ENST00000340096 human ensembl 70_37 +1 known nonsense c.1817 p.S606* 0.147 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC PAX9 5083 genome.wustl.edu 37 14 37135651 37135651 + RNA SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 14 37135651 37135651 C T SNP PAX9 ENST00000557107 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PAX9 HGNC PCDH1 5097 genome.wustl.edu 37 5 141236899 141236899 + Silent SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 5 141236899 141236899 G A SNP PCDH1 ENST00000287008 human ensembl 70_37 -1 known silent c.3237 p.L1079 0.089 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC PCDHB8 56128 genome.wustl.edu 37 5 140558959 140558959 + Silent SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 5 140558959 140558959 C T SNP PCDHB8 ENST00000239444 human ensembl 70_37 +1 known silent c.1344 p.N448 0.994 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC PEAR1 375033 genome.wustl.edu 37 1 156879698 156879698 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 1 156879698 156879698 C T SNP PEAR1 ENST00000292357 human ensembl 70_37 +1 known missense c.1567 p.P523S 0.964 superfamily_Growth_fac_rcpt,smart_EGF_laminin pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC PIP5K1C 23396 genome.wustl.edu 37 19 3653299 3653299 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 3653299 3653299 G A SNP PIP5K1C ENST00000537021 human ensembl 70_37 -1 known missense c.910 p.R304W 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC PLEKHG4 25894 genome.wustl.edu 37 16 67322304 67322304 + Splice_Site SNP G G T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 16 67322304 67322304 G T SNP PLEKHG4 ENST00000360461 human ensembl 70_37 +1 known splice_site c.3454+1 e19+1 1.000 - - - no_errors PLEKHG4 HGNC PLG 5340 genome.wustl.edu 37 6 161134305 161134306 + RNA INS - - T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 6 161134305 161134306 - T INS PLG ENST00000462918 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.003 - - - no_errors PLG HGNC PRDM9 56979 genome.wustl.edu 37 5 23509156 23509156 + Missense_Mutation SNP A A T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 5 23509156 23509156 A T SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known missense c.14 p.K5M 0.000 NULL 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 PSMB9 5698 genome.wustl.edu 37 6 32822041 32822041 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 6 32822041 32822041 C T SNP PSMB9 ENST00000374859 human ensembl 70_37 +1 known missense c.35 p.P12L 0.004 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB9 HGNC PSTPIP1 9051 genome.wustl.edu 37 15 77320166 77320166 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 15 77320166 77320166 C T SNP PSTPIP1 ENST00000559750 human ensembl 70_37 +1 known missense c.380 p.S127L 0.289 NULL pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH - no_errors PSTPIP1 HGNC PTPN13 5783 genome.wustl.edu 37 4 87653625 87653625 + Missense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 87653625 87653625 C G SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known missense c.1681 p.L561V 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC RABIF 5877 genome.wustl.edu 37 1 202858203 202858203 + Silent SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 1 202858203 202858203 G A SNP RABIF ENST00000367262 human ensembl 70_37 -1 known silent c.24 p.S8 0.829 NULL pfam_Mss4,superfamily_Mss4-like - no_errors RABIF HGNC RBFOX1 54715 genome.wustl.edu 37 16 7760713 7760713 + Missense_Mutation SNP A A G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 16 7760713 7760713 A G SNP RBFOX1 ENST00000311745 human ensembl 70_37 +1 known missense c.1223 p.Y408C 1.000 NULL pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC RSPH10B2 728194 genome.wustl.edu 37 7 6797357 6797357 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 7 6797357 6797357 C T SNP RSPH10B2 ENST00000297186 human ensembl 70_37 +1 known missense c.49 p.R17C 0.965 NULL pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC RUFY2 55680 genome.wustl.edu 37 10 70103367 70103367 + RNA SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 10 70103367 70103367 C T SNP RUFY2 ENST00000466187 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RUFY2 HGNC SCN7A 6332 genome.wustl.edu 37 2 167328850 167328850 + Silent SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 167328850 167328850 G A SNP SCN7A ENST00000409855 human ensembl 70_37 -1 known silent c.549 p.L183 0.482 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC SH3BP2 6452 genome.wustl.edu 37 4 2831494 2831494 + Silent SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 2831494 2831494 C T SNP SH3BP2 ENST00000503393 human ensembl 70_37 +1 known silent c.1032 p.T344 0.000 NULL pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors SH3BP2 HGNC SLC1A2 6506 genome.wustl.edu 37 11 35323113 35323113 + Missense_Mutation SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 11 35323113 35323113 G C SNP SLC1A2 ENST00000278379 human ensembl 70_37 -1 known missense c.810 p.F270L 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A2 HGNC SLC25A16 8034 genome.wustl.edu 37 10 70243298 70243298 + Missense_Mutation SNP C C A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 10 70243298 70243298 C A SNP SLC25A16 ENST00000265870 human ensembl 70_37 -1 known missense c.890 p.R297L 0.997 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC,prints_Mit_carrier - no_errors SLC25A16 HGNC SLC25A47 283600 genome.wustl.edu 37 14 100792566 100792566 + Splice_Site SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 14 100792566 100792566 G A SNP SLC25A47 ENST00000361529 human ensembl 70_37 +1 known splice_site c.144+1 e3+1 1.000 - - - no_errors SLC25A47 HGNC SLC35F3 148641 genome.wustl.edu 37 1 234444857 234444857 + Nonsense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 1 234444857 234444857 C T SNP SLC35F3 ENST00000366618 human ensembl 70_37 +1 known nonsense c.619 p.R207* 1.000 NULL pfam_DMT,pfam_DUF250,pfam_DUF914_euk - no_errors SLC35F3 HGNC SLC46A2 57864 genome.wustl.edu 37 9 115652031 115652031 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 9 115652031 115652031 C T SNP SLC46A2 ENST00000374228 human ensembl 70_37 -1 known missense c.931 p.E311K 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC46A2 HGNC SLC7A2 6542 genome.wustl.edu 37 8 17401053 17401053 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 8 17401053 17401053 G A SNP SLC7A2 ENST00000004531 human ensembl 70_37 +1 known missense c.325 p.V109M 0.960 pfam_AA-permease_dom,tigrfam_Cat_AA_permease pfam_AA-permease_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC SMARCC2 6601 genome.wustl.edu 37 12 56558435 56558435 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 12 56558435 56558435 C T SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known missense c.3220 p.A1074T 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC SMO 6608 genome.wustl.edu 37 7 128845480 128845480 + Silent SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 7 128845480 128845480 G A SNP SMO ENST00000249373 human ensembl 70_37 +1 known silent c.777 p.S259 0.676 pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC SOHLH2 54937 genome.wustl.edu 37 13 36747844 36747844 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 13 36747844 36747844 C T SNP SOHLH2 ENST00000554962 human ensembl 70_37 -1 known missense c.1216 p.D406N 0.587 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SOHLH2 HGNC SRCAP 10847 genome.wustl.edu 37 16 30736067 30736067 + Silent SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 16 30736067 30736067 G A SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known silent c.5322 p.S1774 0.198 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC SVIL 6840 genome.wustl.edu 37 10 29746346 29746347 + RNA INS - - TGTT TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 10 29746346 29746347 - TGTT INS SVIL ENST00000497265 human ensembl 70_37 -1 known rna NULL NULL 0.991:0.994 - - - no_errors SVIL HGNC SYNE1 23345 genome.wustl.edu 37 6 152470698 152470698 + Nonsense_Mutation SNP C C A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 6 152470698 152470698 C A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known nonsense c.24556 p.E8186* 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC TGIF2 60436 genome.wustl.edu 37 20 35220571 35220572 + RNA INS - - A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 20 35220571 35220572 - A INS TGIF2 ENST00000558465 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors TGIF2 HGNC THAP9 79725 genome.wustl.edu 37 4 83839270 83839270 + Missense_Mutation SNP G G C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 83839270 83839270 G C SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known missense c.1905 p.Q635H 0.999 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC THSD7B 80731 genome.wustl.edu 37 2 137852675 137852675 + Missense_Mutation SNP C C G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 137852675 137852675 C G SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.1183 p.L395V 0.926 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC TKTL2 84076 genome.wustl.edu 37 4 164393427 164393427 + Missense_Mutation SNP G G A TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 4 164393427 164393427 G A SNP TKTL2 ENST00000280605 human ensembl 70_37 -1 known missense c.1460 p.P487L 0.008 NULL pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC TMC5 79838 genome.wustl.edu 37 16 19451964 19451964 + Silent SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 16 19451964 19451964 C T SNP TMC5 ENST00000396229 human ensembl 70_37 +1 known silent c.604 p.L202 0.000 NULL pfam_TMC - no_errors TMC5 HGNC TPCN2 219931 genome.wustl.edu 37 11 68855399 68855399 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 11 68855399 68855399 C T SNP TPCN2 ENST00000294309 human ensembl 70_37 +1 known missense c.2237 p.P746L 0.987 NULL pfam_Ion_trans_dom - no_errors TPCN2 HGNC TPSD1 23430 genome.wustl.edu 37 16 1306681 1306681 + Missense_Mutation SNP A A C TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 16 1306681 1306681 A C SNP TPSD1 ENST00000211076 human ensembl 70_37 +1 known missense c.247 p.V83L 0.026 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSD1 HGNC TUBA4B 80086 genome.wustl.edu 37 2 220118077 220118077 + RNA DEL G G - TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 220118077 220118077 G - DEL TUBA4B ENST00000473885 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TUBA4B HGNC UBXN4 23190 genome.wustl.edu 37 2 136540402 136540402 + Missense_Mutation SNP A A G TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 2 136540402 136540402 A G SNP UBXN4 ENST00000272638 human ensembl 70_37 +1 known missense c.1472 p.D491G 1.000 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC VCAN 1462 genome.wustl.edu 37 5 82876847 82876847 + RNA DEL G G - TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 5 82876847 82876847 G - DEL VCAN ENST00000513016 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors VCAN HGNC VKORC1L1 154807 genome.wustl.edu 37 7 65419185 65419185 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 7 65419185 65419185 C T SNP VKORC1L1 ENST00000434382 human ensembl 70_37 +1 novel missense c.319 p.R107C 1.000 NULL pfam_VKOR - no_errors VKORC1L1 HGNC ZNF526 116115 genome.wustl.edu 37 19 42729913 42729913 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 42729913 42729913 C T SNP ZNF526 ENST00000301215 human ensembl 70_37 +1 known missense c.1358 p.S453L 0.157 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ZNF672 79894 genome.wustl.edu 37 1 249142781 249142781 + Silent SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 1 249142781 249142781 C T SNP ZNF672 ENST00000306562 human ensembl 70_37 +1 known silent c.1308 p.L436 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF672 HGNC ZNF714 148206 genome.wustl.edu 37 19 21300204 21300204 + Missense_Mutation SNP C C T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 21300204 21300204 C T SNP ZNF714 ENST00000596143 human ensembl 70_37 +1 known missense c.734 p.T245I 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF714 HGNC ZNF791 163049 genome.wustl.edu 37 19 12734618 12734619 + Frame_Shift_Ins INS - - T TCGA-JW-A5VI-01A-11D-A28B-09 TCGA-JW-A5VI-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fa0d743-1312-4aa6-967d-7ec81af780cd 4cf0c64a-057d-4e79-85f2-dffc58753ffd 19 12734618 12734619 - T INS ZNF791 ENST00000343325 human ensembl 70_37 +1 known frame_shift_ins c.108_109 p.K37fs 0.638:0.608 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF791 HGNC