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 APLP2 0 genome.wustl.edu 37 11 130007179 130007180 + Frame_Shift_Ins INS - - A TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 11 130007179 130007180 - A INS APLP2 ENST00000263574 human ensembl 69_37n +1 known frame_shift_ins c.1866_1867 p.G624fs 1.000:1.000 NULL pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC ENSG00000084234 227 0 0.00 264 148 35.92 - - - ATP10B 0 genome.wustl.edu 37 5 160059168 160059168 + Missense_Mutation SNP A A G TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 5 160059168 160059168 A G SNP ATP10B ENST00000327245 human ensembl 69_37n -1 known missense c.1588 p.S530P 0.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 24 0 0.00 33 26 44.07 - - - C5orf25 0 genome.wustl.edu 37 5 175717093 175717093 + Missense_Mutation SNP G G A TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 5 175717093 175717093 G A SNP C5orf25 ENST00000443967 human ensembl 69_37n +1 known missense c.509 p.S170N 0.986 NULL NULL - no_errors C5orf25 HGNC ENSG00000170085 58 0 0.00 113 33 22.60 - - - CACHD1 0 genome.wustl.edu 37 1 65124496 65124496 + Missense_Mutation SNP C C T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 1 65124496 65124496 C T SNP CACHD1 ENST00000371073 human ensembl 69_37n +1 known missense c.1891 p.R631W 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 94 0 0.00 60 33 35.48 - - - CAP2 0 genome.wustl.edu 37 6 17421790 17421790 + Missense_Mutation SNP G G T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 6 17421790 17421790 G T SNP CAP2 ENST00000229922 human ensembl 69_37n +1 known missense c.4 p.A2S 0.999 NULL pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP2 HGNC ENSG00000112186 64 0 0.00 125 18 12.59 - - - CCNB3 0 genome.wustl.edu 37 X 50090648 50090648 + Silent SNP A A G TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 X 50090648 50090648 A G SNP CCNB3 ENST00000276014 human ensembl 69_37n +1 known silent c.3834 p.T1278 0.815 pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 87 0 0.00 47 25 34.72 - - - CLIP4 0 genome.wustl.edu 37 2 29386783 29386783 + Nonsense_Mutation SNP A A T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 2 29386783 29386783 A T SNP CLIP4 ENST00000402240 human ensembl 69_37n +1 known nonsense c.1627 p.R543* 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 225 0 0.00 133 30 18.40 - - - CROCCP2 0 genome.wustl.edu 37 1 16946407 16946407 + RNA SNP T T G TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 1 16946407 16946407 T G SNP CROCCP2 ENST00000412962 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 15 0 0.00 53 13 19.70 - - - CSMD2 0 genome.wustl.edu 37 1 34254255 34254255 + Missense_Mutation SNP G G A TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 1 34254255 34254255 G A SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.1609 p.L537F 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 69 0 0.00 69 18 20.69 - - - CSTF2 0 genome.wustl.edu 37 X 100078982 100078982 + Silent SNP G G A TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 X 100078982 100078982 G A SNP CSTF2 ENST00000415585 human ensembl 69_37n +1 known silent c.552 p.P184 0.951 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2 HGNC ENSG00000101811 260 0 0.00 259 63 19.57 - - - CYP1B1-AS1 0 genome.wustl.edu 37 2 38408256 38408256 + RNA SNP G G A TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 2 38408256 38408256 G A SNP CYP1B1-AS1 ENST00000413828 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CYP1B1-AS1 HGNC ENSG00000232973 44 0 0.00 45 19 29.69 - - - DNAH10 0 genome.wustl.edu 37 12 124349182 124349182 + Missense_Mutation SNP G G A TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 12 124349182 124349182 G A SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.6595 p.E2199K 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 274 0 0.00 154 112 42.11 - - - DPYSL5 0 genome.wustl.edu 37 2 27154529 27154529 + Missense_Mutation SNP C C T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 2 27154529 27154529 C T SNP DPYSL5 ENST00000288699 human ensembl 69_37n +1 known missense c.691 p.R231C 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 131 0 0.00 236 88 27.16 - - - ESRRG 0 genome.wustl.edu 37 1 216850754 216850754 + Missense_Mutation SNP G G T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 1 216850754 216850754 G T SNP ESRRG ENST00000408911 human ensembl 69_37n -1 known missense c.136 p.P46T 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 76 0 0.00 129 25 16.23 - - - FBXO6 0 genome.wustl.edu 37 1 11732060 11732060 + Silent SNP G G A TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 1 11732060 11732060 G A SNP FBXO6 ENST00000376753 human ensembl 69_37n +1 known silent c.489 p.P163 0.001 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,pfam_F-box_dom_cyclin-like,superfamily_Galactose-bd-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_F-box-assoc_dom - no_errors FBXO6 HGNC ENSG00000116663 94 0 0.00 98 19 16.10 - - - GSPT1 0 genome.wustl.edu 37 16 11976892 11976892 + Missense_Mutation SNP G G A TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 16 11976892 11976892 G A SNP GSPT1 ENST00000434724 human ensembl 69_37n -1 known missense c.1408 p.L470F 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd - no_errors GSPT1 HGNC ENSG00000103342 217 0 0.00 204 43 17.41 - - - HDAC1 0 genome.wustl.edu 37 1 32798618 32798618 + Silent SNP G G A TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 1 32798618 32798618 G A SNP HDAC1 ENST00000373548 human ensembl 69_37n +1 known silent c.1422 p.G474 1.000 NULL pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC1 HGNC ENSG00000116478 122 0 0.00 92 62 40.26 - - - HEPACAM2 0 genome.wustl.edu 37 7 92826860 92826860 + Nonsense_Mutation SNP G G C TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 7 92826860 92826860 G C SNP HEPACAM2 ENST00000394468 human ensembl 69_37n -1 known nonsense c.1076 p.S359* 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors HEPACAM2 HGNC ENSG00000188175 285 0 0.00 146 88 37.45 - - - IKZF2 0 genome.wustl.edu 37 2 213872500 213872500 + Missense_Mutation SNP G G T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 2 213872500 213872500 G T SNP IKZF2 ENST00000434687 human ensembl 69_37n -1 known missense c.1165 p.P389T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 125 0 0.00 99 39 28.26 - - - IL6ST 0 genome.wustl.edu 37 5 55251984 55251984 + Missense_Mutation SNP T T C TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 5 55251984 55251984 T C SNP IL6ST ENST00000336909 human ensembl 69_37n -1 known missense c.1136 p.N379S 0.022 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 329 0 0.00 41 135 76.70 - - - ISL1 0 genome.wustl.edu 37 5 50687262 50687262 + Missense_Mutation SNP C C T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 5 50687262 50687262 C T SNP ISL1 ENST00000230658 human ensembl 69_37n +1 known missense c.920 p.A307V 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors ISL1 HGNC ENSG00000016082 33 0 0.00 37 8 17.78 - - - KRT81 0 genome.wustl.edu 37 12 52681497 52681497 + Silent SNP C C T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 12 52681497 52681497 C T SNP KRT81 ENST00000327741 human ensembl 69_37n -1 known silent c.909 p.E303 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT81 HGNC ENSG00000205426 35 0 0.00 73 52 41.60 - - - LPPR2 0 genome.wustl.edu 37 19 11474496 11474496 + Splice_Site SNP G G C TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 19 11474496 11474496 G C SNP LPPR2 ENST00000251473 human ensembl 69_37n +1 known splice_site c.947+1 e6+1 1.000 - - - no_errors LPPR2 Clone_based_vega_gene ENSG00000105520 21 0 0.00 25 14 35.90 - - - MADD 0 genome.wustl.edu 37 11 47306022 47306022 + Missense_Mutation SNP A A T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 11 47306022 47306022 A T SNP MADD ENST00000311027 human ensembl 69_37n +1 known missense c.2063 p.D688V 0.019 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 MADD HGNC ENSG00000110514 63 0 0.00 107 22 17.05 - - - MAGEB4 0 genome.wustl.edu 37 X 30260918 30260918 + Silent SNP A A G TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 X 30260918 30260918 A G SNP MAGEB4 ENST00000378982 human ensembl 69_37n +1 known silent c.666 p.E222 0.004 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 93 0 0.00 188 36 16.07 - - - MARK1 0 genome.wustl.edu 37 1 220835233 220835233 + Missense_Mutation SNP A A G TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 1 220835233 220835233 A G SNP MARK1 ENST00000366917 human ensembl 69_37n +1 known missense c.2113 p.S705G 1.000 superfamily_Kinase-assoc_KA1 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK1 HGNC ENSG00000116141 80 0 0.00 62 12 16.00 - - - MEPE 0 genome.wustl.edu 37 4 88766794 88766794 + Silent SNP C C T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 4 88766794 88766794 C T SNP MEPE ENST00000361056 human ensembl 69_37n +1 known silent c.774 p.D258 0.985 NULL pfam_Osteoregulin - no_errors MEPE HGNC ENSG00000152595 57 0 0.00 114 21 15.56 - - - OASL 0 genome.wustl.edu 37 12 121461839 121461839 + Missense_Mutation SNP C C T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 12 121461839 121461839 C T SNP OASL ENST00000257570 human ensembl 69_37n -1 known missense c.1001 p.C334Y 1.000 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup - no_errors OASL HGNC ENSG00000135114 68 0 0.00 88 17 16.19 - - - PREX2 0 genome.wustl.edu 37 8 69031699 69031699 + Missense_Mutation SNP C C G TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 8 69031699 69031699 C G SNP PREX2 ENST00000288368 human ensembl 69_37n +1 known missense c.3454 p.H1152D 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 197 0 0.00 223 44 16.48 - - - PRKCG 0 genome.wustl.edu 37 19 54403952 54403952 + Silent SNP C C T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 19 54403952 54403952 C T SNP PRKCG ENST00000540413 human ensembl 69_37n +1 known silent c.1524 p.P508 0.650 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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCG HGNC ENSG00000126583 55 0 0.00 73 42 36.52 - - - PSMC6 0 genome.wustl.edu 37 14 53184856 53184856 + Nonsense_Mutation SNP T T G TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 14 53184856 53184856 T G SNP PSMC6 ENST00000445930 human ensembl 69_37n +1 known nonsense c.629 p.L210* 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC6 HGNC ENSG00000100519 226 1 0.44 136 35 20.47 - - - PTBP3 0 genome.wustl.edu 37 9 115038244 115038244 + Silent SNP C C T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 9 115038244 115038244 C T SNP PTBP3 ENST00000458258 human ensembl 69_37n -1 known silent c.186 p.S62 0.051 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP3 HGNC ENSG00000119314 179 0 0.00 108 22 16.79 - - - ROBO4 0 genome.wustl.edu 37 11 124757090 124757090 + Missense_Mutation SNP C C G TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 11 124757090 124757090 C G SNP ROBO4 ENST00000306534 human ensembl 69_37n -1 known missense c.2218 p.A740P 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO4 HGNC ENSG00000154133 23 0 0.00 33 29 46.77 - - - RPH3A 0 genome.wustl.edu 37 12 113306329 113306329 + Missense_Mutation SNP C C A TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 12 113306329 113306329 C A SNP RPH3A ENST00000389385 human ensembl 69_37n +1 known missense c.539 p.P180H 0.001 NULL pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RPH3A HGNC ENSG00000089169 32 0 0.00 34 21 38.18 - - - STH 0 genome.wustl.edu 37 17 44076959 44076959 + Missense_Mutation SNP G G T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 17 44076959 44076959 G T SNP STH ENST00000537309 human ensembl 69_37n +1 known missense c.314 p.C105F 0.000 NULL NULL - no_errors STH HGNC ENSG00000256762 36 0 0.00 41 8 16.33 - - - TBC1D21 0 genome.wustl.edu 37 15 74177364 74177364 + Nonsense_Mutation SNP G G T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 15 74177364 74177364 G T SNP TBC1D21 ENST00000300504 human ensembl 69_37n +1 known nonsense c.499 p.E167* 0.988 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D21 HGNC ENSG00000167139 74 0 0.00 30 11 26.83 - - - TMEM53 0 genome.wustl.edu 37 1 45120323 45120323 + Missense_Mutation SNP C C T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 1 45120323 45120323 C T SNP TMEM53 ENST00000372237 human ensembl 69_37n -1 known missense c.742 p.V248M 0.002 pfam_DUF829_TMEM53 pfam_DUF829_TMEM53 - no_errors TMEM53 HGNC ENSG00000126106 55 0 0.00 24 9 27.27 - - - USP25 0 genome.wustl.edu 37 21 17199314 17199314 + Missense_Mutation SNP A A T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 21 17199314 17199314 A T SNP USP25 ENST00000453553 human ensembl 69_37n +1 putative missense c.71 p.E24V 0.719 pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region USP25 HGNC ENSG00000155313 91 0 0.00 90 19 17.43 - - - VLDLR 0 genome.wustl.edu 37 9 2643294 2643294 + Missense_Mutation SNP G G A TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 9 2643294 2643294 G A SNP VLDLR ENST00000382100 human ensembl 69_37n +1 known missense c.583 p.A195T 0.019 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors VLDLR HGNC ENSG00000147852 23 0 0.00 6 14 66.67 - - - VPS41 0 genome.wustl.edu 37 7 38768370 38768370 + Missense_Mutation SNP T T C TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 7 38768370 38768370 T C SNP VPS41 ENST00000310301 human ensembl 69_37n -1 known missense c.2281 p.K761E 1.000 pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 218 0 0.00 182 26 12.50 - - - WDR72 0 genome.wustl.edu 37 15 53908085 53908085 + Missense_Mutation SNP T T G TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 15 53908085 53908085 T G SNP WDR72 ENST00000360509 human ensembl 69_37n -1 known missense c.2318 p.K773T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 165 0 0.00 143 36 20.11 - - - WDR72 0 genome.wustl.edu 37 15 54015098 54015098 + Missense_Mutation SNP G G A TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 15 54015098 54015098 G A SNP WDR72 ENST00000360509 human ensembl 69_37n -1 known missense c.161 p.A54V 0.998 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 134 0 0.00 114 24 17.39 - - - XRN1 0 genome.wustl.edu 37 3 142123820 142123820 + Missense_Mutation SNP A A T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 3 142123820 142123820 A T SNP XRN1 ENST00000264951 human ensembl 69_37n -1 known missense c.1812 p.D604E 0.002 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 177 0 0.00 167 110 39.71 - - - ZNF202 0 genome.wustl.edu 37 11 123596728 123596728 + Missense_Mutation SNP T T A TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 11 123596728 123596728 T A SNP ZNF202 ENST00000336139 human ensembl 69_37n -1 known missense c.1924 p.T642S 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF202 HGNC ENSG00000166261 137 0 0.00 196 39 16.53 - - - ZNF786 0 genome.wustl.edu 37 7 148769113 148769113 + Silent SNP G G T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f133a2e3-73a2-40b8-855f-e819e4d11630 8a015260-3f5f-4130-adb3-d15881d67e08 7 148769113 148769113 G T SNP ZNF786 ENST00000491431 human ensembl 69_37n -1 known silent c.751 p.R251 0.004 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 ZNF786 HGNC ENSG00000197362 34 0 0.00 12 8 40.00 - - -