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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All AHNAK2 0 genome.wustl.edu 37 14 105412225 105412225 + Missense_Mutation SNP T T G TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 14 105412225 105412225 T G SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.9563 p.N3188T 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 95 0 0.00 104 14 11.86 - - - APOBR 0 genome.wustl.edu 37 16 28507295 28507295 + Silent SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 16 28507295 28507295 G A SNP APOBR ENST00000564831 human ensembl 69_37n +1 known silent c.933 p.E311 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 26 0 0.00 23 4 14.81 - - - ARPC4-TTLL3 0 genome.wustl.edu 37 3 9845592 9845592 + Missense_Mutation SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 3 9845592 9845592 G A SNP ARPC4-TTLL3 ENST00000453882 human ensembl 69_37n +1 putative missense c.298 p.G100R 1.000 pfam_ARPC4 pfam_ARPC4 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ARPC4-TTLL3 HGNC ENSG00000250151 35 0 0.00 32 5 13.51 - - - CBFB 0 genome.wustl.edu 37 16 67070634 67070634 + Silent SNP C C A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 16 67070634 67070634 C A SNP CBFB ENST00000290858 human ensembl 69_37n +1 known silent c.258 p.V86 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 65 0 0.00 32 23 41.82 - - - CHRD 0 genome.wustl.edu 37 3 184100846 184100846 + Missense_Mutation SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 3 184100846 184100846 G A SNP CHRD ENST00000204604 human ensembl 69_37n +1 known missense c.1108 p.E370K 1.000 pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 17 0 0.00 12 7 36.84 - - - CPA5 0 genome.wustl.edu 37 7 130003343 130003343 + Missense_Mutation SNP T T G TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 7 130003343 130003343 T G SNP CPA5 ENST00000479492 human ensembl 69_37n +1 novel missense c.62 p.V21G 0.842 NULL pfam_Peptidase_M14 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CPA5 HGNC ENSG00000158525 60 0 0.00 50 16 24.24 - - - CSH2 0 genome.wustl.edu 37 17 61950968 61950968 + Missense_Mutation SNP C C G TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 17 61950968 61950968 C G SNP CSH2 ENST00000392886 human ensembl 69_37n -1 known missense c.7 p.A3P 0.998 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSH2 HGNC ENSG00000213218 59 0 0.00 24 13 35.14 - - - FCGBP 0 genome.wustl.edu 37 19 40407987 40407987 + Silent SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 19 40407987 40407987 G A SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known silent c.4734 p.A1578 0.119 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 43 0 0.00 20 10 33.33 - - - GPR125 0 genome.wustl.edu 37 4 22415369 22415369 + Silent SNP G G C TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 4 22415369 22415369 G C SNP GPR125 ENST00000334304 human ensembl 69_37n -1 known silent c.1878 p.L626 0.908 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC ENSG00000152990 104 0 0.00 80 11 12.09 - - - GPR98 0 genome.wustl.edu 37 5 90001311 90001311 + Missense_Mutation SNP T T A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 5 90001311 90001311 T A SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known missense c.8481 p.N2827K 1.000 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 169 0 0.00 115 41 26.11 - - - IQCB1 0 genome.wustl.edu 37 3 121526220 121526220 + Missense_Mutation SNP C C A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 3 121526220 121526220 C A SNP IQCB1 ENST00000310864 human ensembl 69_37n -1 known missense c.558 p.M186I 0.144 superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCB1 HGNC ENSG00000173226 196 0 0.00 150 22 12.79 - - - ITGA1 0 genome.wustl.edu 37 5 52193332 52193332 + Silent SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 5 52193332 52193332 G A SNP ITGA1 ENST00000282588 human ensembl 69_37n +1 known silent c.1137 p.Q379 1.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 79 0 0.00 81 12 12.90 - - - MAP2K4 0 genome.wustl.edu 37 17 12011144 12011144 + Missense_Mutation SNP C C T TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 17 12011144 12011144 C T SNP MAP2K4 ENST00000415385 human ensembl 69_37n +1 known missense c.584 p.S195L 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors MAP2K4 HGNC ENSG00000065559 308 1 0.32 123 92 42.59 - - - NEB 0 genome.wustl.edu 37 2 152466574 152466574 + Nonsense_Mutation SNP C C A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 2 152466574 152466574 C A SNP NEB ENST00000397345 human ensembl 69_37n -1 known nonsense c.12079 p.E4027* 0.990 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 203 0 0.00 212 32 13.01 - - - ODZ2 0 genome.wustl.edu 37 5 167517656 167517656 + Missense_Mutation SNP G G C TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 5 167517656 167517656 G C SNP ODZ2 ENST00000518659 human ensembl 69_37n +1 known missense c.1593 p.Q531H 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ2 HGNC ENSG00000145934 117 0 0.00 79 11 12.22 - - - PCDH9 0 genome.wustl.edu 37 13 67799842 67799842 + Missense_Mutation SNP C C G TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 13 67799842 67799842 C G SNP PCDH9 ENST00000377865 human ensembl 69_37n -1 known missense c.2731 p.E911Q 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 55 0 0.00 37 6 13.95 - - - PDE3A 0 genome.wustl.edu 37 12 20787975 20787975 + Silent SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 12 20787975 20787975 G A SNP PDE3A ENST00000359062 human ensembl 69_37n +1 known silent c.1986 p.E662 0.527 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 97 0 0.00 75 9 10.71 - - - PRAM1 0 genome.wustl.edu 37 19 8564533 8564533 + Silent SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 19 8564533 8564533 G A SNP PRAM1 ENST00000423345 human ensembl 69_37n -1 known silent c.159 p.S53 0.000 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 19 0 0.00 19 9 32.14 - - - PRDM16 0 genome.wustl.edu 37 1 3313062 3313062 + Missense_Mutation SNP A A G TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 1 3313062 3313062 A G SNP PRDM16 ENST00000270722 human ensembl 69_37n +1 known missense c.581 p.Y194C 1.000 smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 62 0 0.00 34 6 15.00 - - - PTPN14 0 genome.wustl.edu 37 1 214557335 214557335 + Silent SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 1 214557335 214557335 G A SNP PTPN14 ENST00000366956 human ensembl 69_37n -1 known silent c.1863 p.L621 0.919 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 14 0 0.00 8 9 52.94 - - - QSOX1 0 genome.wustl.edu 37 1 180147983 180147983 + Silent SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 1 180147983 180147983 G A SNP QSOX1 ENST00000367602 human ensembl 69_37n +1 known silent c.570 p.L190 1.000 NULL pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 99 0 0.00 104 14 11.86 - - - RASGRF1 0 genome.wustl.edu 37 15 79296367 79296367 + Silent SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 15 79296367 79296367 G A SNP RASGRF1 ENST00000419573 human ensembl 69_37n -1 known silent c.2274 p.S758 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N 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 15 0 0.00 10 6 37.50 - - - RIMBP3 0 genome.wustl.edu 37 22 20456978 20456978 + Missense_Mutation SNP C C T TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 22 20456978 20456978 C T SNP RIMBP3 ENST00000426804 human ensembl 69_37n -1 known missense c.4324 p.G1442S 0.000 superfamily_SH3_domain pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC ENSG00000196622 21 0 0.00 4 2 33.33 - - - RPL7 0 genome.wustl.edu 37 8 74204479 74204479 + Silent SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 8 74204479 74204479 G A SNP RPL7 ENST00000352983 human ensembl 69_37n -1 known silent c.285 p.I95 1.000 pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk pfam_Ribosomal_L30_N,pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk - no_errors RPL7 HGNC ENSG00000147604 162 1 0.61 140 26 15.66 - - - SHPRH 0 genome.wustl.edu 37 6 146242419 146242419 + Missense_Mutation SNP C C G TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 6 146242419 146242419 C G SNP SHPRH ENST00000367503 human ensembl 69_37n -1 known missense c.3904 p.E1302Q 1.000 NULL pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 147 0 0.00 110 15 11.90 - - - SLC35G1 0 genome.wustl.edu 37 10 95660752 95660752 + Silent SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 10 95660752 95660752 G A SNP SLC35G1 ENST00000427197 human ensembl 69_37n +1 known silent c.603 p.V201 0.997 pfam_DMT pfam_DMT - no_errors SLC35G1 HGNC ENSG00000176273 114 0 0.00 73 29 28.43 - - - SMCP 0 genome.wustl.edu 37 1 152857160 152857160 + Missense_Mutation SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 1 152857160 152857160 G A SNP SMCP ENST00000368765 human ensembl 69_37n +1 known missense c.262 p.E88K 0.000 NULL NULL - no_errors SMCP HGNC ENSG00000163206 41 0 0.00 27 6 18.18 - - - SNX13 0 genome.wustl.edu 37 7 17873801 17873801 + Missense_Mutation SNP C C G TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 7 17873801 17873801 C G SNP SNX13 ENST00000428135 human ensembl 69_37n -1 novel missense c.1471 p.E491Q 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX13 HGNC ENSG00000071189 55 0 0.00 67 9 11.84 - - - SURF6 0 genome.wustl.edu 37 9 136199031 136199031 + Missense_Mutation SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 9 136199031 136199031 G A SNP SURF6 ENST00000372022 human ensembl 69_37n -1 known missense c.760 p.R254C 1.000 pfam_Surf6 pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 12 0 0.00 2 7 77.78 - - - SYK 0 genome.wustl.edu 37 9 93629418 93629418 + Missense_Mutation SNP G G T TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 9 93629418 93629418 G T SNP SYK ENST00000375746 human ensembl 69_37n +1 known missense c.852 p.W284C 1.000 pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 204 0 0.00 161 56 25.81 - - - TNS3 0 genome.wustl.edu 37 7 47344561 47344561 + Silent SNP C C T TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 7 47344561 47344561 C T SNP TNS3 ENST00000311160 human ensembl 69_37n -1 known silent c.2691 p.G897 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 49 0 0.00 40 10 20.00 - - - TOMM34 0 genome.wustl.edu 37 20 43585106 43585106 + Missense_Mutation SNP C C T TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 20 43585106 43585106 C T SNP TOMM34 ENST00000372813 human ensembl 69_37n -1 known missense c.148 p.E50K 0.985 pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM34 HGNC ENSG00000025772 69 0 0.00 50 8 13.79 - - - TSC22D1 0 genome.wustl.edu 37 13 45148990 45148990 + Silent SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 13 45148990 45148990 G A SNP TSC22D1 ENST00000458659 human ensembl 69_37n -1 known silent c.1221 p.F407 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 99 0 0.00 87 13 12.87 - - - TSC22D1 0 genome.wustl.edu 37 13 45149901 45149901 + Missense_Mutation SNP G G C TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 13 45149901 45149901 G C SNP TSC22D1 ENST00000458659 human ensembl 69_37n -1 known missense c.310 p.Q104E 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 65 0 0.00 63 12 16.00 - - - TTLL5 0 genome.wustl.edu 37 14 76249634 76249634 + Missense_Mutation SNP C C T TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 14 76249634 76249634 C T SNP TTLL5 ENST00000298832 human ensembl 69_37n +1 known missense c.2747 p.S916F 0.051 NULL pfam_Tub_tyr_ligase - no_errors TTLL5 HGNC ENSG00000119685 82 0 0.00 94 20 17.39 - - - UBC 0 genome.wustl.edu 37 12 125397950 125397950 + Missense_Mutation SNP C C G TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 12 125397950 125397950 C G SNP UBC ENST00000339647 human ensembl 69_37n -1 known missense c.368 p.G123A 1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC ENSG00000150991 112 0 0.00 87 12 12.12 - - - UNC5D 0 genome.wustl.edu 37 8 35616880 35616880 + Missense_Mutation SNP G G A TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 8 35616880 35616880 G A SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known missense c.2206 p.E736K 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 185 0 0.00 124 18 12.68 - - - VANGL1 0 genome.wustl.edu 37 1 116233968 116233968 + Missense_Mutation SNP G G T TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 1 116233968 116233968 G T SNP VANGL1 ENST00000310260 human ensembl 69_37n +1 known missense c.1543 p.V515F 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL1 HGNC ENSG00000173218 70 0 0.00 51 33 39.29 - - - ZFYVE16 0 genome.wustl.edu 37 5 79733498 79733498 + Nonsense_Mutation SNP C C T TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f6b8b1a9-370c-4023-b8bd-934e2a3d913a a477963b-b0e1-4394-bfa3-cfc26c651ac8 5 79733498 79733498 C T SNP ZFYVE16 ENST00000338008 human ensembl 69_37n +1 known nonsense c.994 p.Q332* 0.935 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 114 0 0.00 98 15 13.27 - - -