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 ARHGEF11 0 genome.wustl.edu 37 1 156910022 156910022 + Missense_Mutation SNP A A T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 1 156910022 156910022 A T SNP ARHGEF11 ENST00000368194 human ensembl 69_37n -1 known missense c.3710 p.L1237H 0.841 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 67 0 0.00 17 14 45.16 - - - ARID5A 0 genome.wustl.edu 37 2 97217854 97217854 + Missense_Mutation SNP T T A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 2 97217854 97217854 T A SNP ARID5A ENST00000357485 human ensembl 69_37n +1 known missense c.1589 p.V530D 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5A HGNC ENSG00000196843 36 0 0.00 3 9 75.00 - - - BCORL1 0 genome.wustl.edu 37 X 129148840 129148840 + Missense_Mutation SNP G G T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 X 129148840 129148840 G T SNP BCORL1 ENST00000303743 human ensembl 69_37n +1 known missense c.2092 p.D698Y 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 44 0 0.00 29 17 36.96 - - - C10orf82 0 genome.wustl.edu 37 10 118424328 118424328 + Silent SNP C C T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 10 118424328 118424328 C T SNP C10orf82 ENST00000588184 human ensembl 69_37n -1 known silent c.405 p.K135 0.652 NULL NULL - no_errors C10orf82 HGNC ENSG00000165863 100 0 0.00 50 45 47.37 - - - C14orf177 0 genome.wustl.edu 37 14 99182541 99182541 + Missense_Mutation SNP G G C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 14 99182541 99182541 G C SNP C14orf177 ENST00000325812 human ensembl 69_37n +1 known missense c.13 p.E5Q 0.001 NULL NULL - no_errors C14orf177 HGNC ENSG00000176605 34 0 0.00 26 16 38.10 - - - CAMSAP2 0 genome.wustl.edu 37 1 200818319 200818319 + Missense_Mutation SNP G G T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 1 200818319 200818319 G T SNP CAMSAP2 ENST00000236925 human ensembl 69_37n +1 known missense c.2455 p.A819S 0.969 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 227 0 0.00 448 155 25.70 - - - CCNC 0 genome.wustl.edu 37 6 99993065 99993065 + Missense_Mutation SNP C C G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 6 99993065 99993065 C G SNP CCNC ENST00000520429 human ensembl 69_37n -1 known missense c.720 p.Q240H 1.000 superfamily_Cyclin-like,pirsf_Cyclin_C/H pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H - no_errors CCNC HGNC ENSG00000112237 114 0 0.00 33 46 57.50 - - - CDK14 0 genome.wustl.edu 37 7 90377007 90377007 + Silent SNP C C T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 7 90377007 90377007 C T SNP CDK14 ENST00000380050 human ensembl 69_37n +1 known silent c.381 p.P127 1.000 superfamily_Kinase-like_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 CDK14 HGNC ENSG00000058091 344 0 0.00 142 100 41.15 - - - CHERP 0 genome.wustl.edu 37 19 16652820 16652820 + Silent SNP G G A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 19 16652820 16652820 G A SNP CHERP ENST00000546361 human ensembl 69_37n -1 known silent c.60 p.A20 0.999 pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 20 0 0.00 20 11 35.48 - - - COL4A4 0 genome.wustl.edu 37 2 227872737 227872737 + Silent SNP C C T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 2 227872737 227872737 C T SNP COL4A4 ENST00000396625 human ensembl 69_37n -1 known silent c.4806 p.L1602 0.966 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 27 0 0.00 17 11 39.29 - - - CPAMD8 0 genome.wustl.edu 37 19 17014626 17014626 + Missense_Mutation SNP G G T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 19 17014626 17014626 G T SNP CPAMD8 ENST00000443236 human ensembl 69_37n -1 known missense c.4466 p.S1489Y 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CPAMD8 HGNC ENSG00000160111 52 0 0.00 133 25 15.82 - - - DDX11 0 genome.wustl.edu 37 12 31242378 31242381 + Frame_Shift_Del DEL GCAG GCAG - TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 GCAG GCAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 12 31242378 31242381 GCAG - DEL DDX11 ENST00000407793 human ensembl 69_37n +1 known frame_shift_del c.834_837 p.Q279fs 1.000:1.000:1.000:0.979 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 30 0 0.00 16 5 23.81 - - - DGCR14 0 genome.wustl.edu 37 22 19125811 19125811 + Frame_Shift_Del DEL C C - TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 22 19125811 19125811 C - DEL DGCR14 ENST00000252137 human ensembl 69_37n -1 known frame_shift_del c.842 p.G281fs 1.000 pfam_Nuclear_protein_DGCR14 pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 9 0 0.00 4 2 33.33 - - - EIF5B 0 genome.wustl.edu 37 2 99999274 99999274 + Missense_Mutation SNP G G C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 2 99999274 99999274 G C SNP EIF5B ENST00000289371 human ensembl 69_37n +1 known missense c.2161 p.D721H 1.000 pfam_ProtSyn_GTP-bd,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 102 0 0.00 72 49 40.50 - - - ELAVL3 0 genome.wustl.edu 37 19 11577604 11577605 + Frame_Shift_Ins INS - - C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 19 11577604 11577605 - C INS ELAVL3 ENST00000359227 human ensembl 69_37n -1 known frame_shift_ins c.48_47 p.A18fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 25 0 0.00 30 9 23.08 - - - ELOVL5 0 genome.wustl.edu 37 6 53134010 53134010 + Missense_Mutation SNP C C G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 6 53134010 53134010 C G SNP ELOVL5 ENST00000541407 human ensembl 69_37n -1 known missense c.896 p.G299A 0.999 NULL pfam_GNS1_SUR4 - no_errors ELOVL5 HGNC ENSG00000012660 103 0 0.00 108 52 32.50 - - - EML4 0 genome.wustl.edu 37 2 42557268 42557268 + Missense_Mutation SNP A A T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 2 42557268 42557268 A T SNP EML4 ENST00000318522 human ensembl 69_37n +1 known missense c.2867 p.E956V 0.997 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 107 0 0.00 68 40 37.04 - - - FAM171B 0 genome.wustl.edu 37 2 187616031 187616031 + Missense_Mutation SNP G G A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 2 187616031 187616031 G A SNP FAM171B ENST00000304698 human ensembl 69_37n +1 known missense c.895 p.G299S 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 114 0 0.00 74 53 41.73 - - - FGFR4 0 genome.wustl.edu 37 5 176520707 176520707 + Missense_Mutation SNP G G A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 5 176520707 176520707 G A SNP FGFR4 ENST00000292408 human ensembl 69_37n +1 known missense c.1450 p.A484T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FGFR4 HGNC ENSG00000160867 72 0 0.00 21 22 51.16 - - - FN1 0 genome.wustl.edu 37 2 216264037 216264037 + Missense_Mutation SNP C C G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 2 216264037 216264037 C G SNP FN1 ENST00000354785 human ensembl 69_37n -1 known missense c.3291 p.E1097D 1.000 pfam_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 100 0 0.00 99 49 33.11 - - - FREM1 0 genome.wustl.edu 37 9 14801748 14801748 + Missense_Mutation SNP C C T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 9 14801748 14801748 C T SNP FREM1 ENST00000380881 human ensembl 69_37n -1 known missense c.3599 p.R1200K 0.001 superfamily_Cadherin-like pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 207 0 0.00 114 67 36.81 - - - GAS2L3 0 genome.wustl.edu 37 12 101017635 101017635 + Missense_Mutation SNP G G C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 12 101017635 101017635 G C SNP GAS2L3 ENST00000266754 human ensembl 69_37n +1 known missense c.1052 p.G351A 0.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 225 0 0.00 212 143 40.28 - - - GBA3 0 genome.wustl.edu 37 4 22820484 22820484 + Missense_Mutation SNP T T A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 4 22820484 22820484 T A SNP GBA3 ENST00000508166 human ensembl 69_37n +1 known missense c.1348 p.Y450N 1.000 NULL NULL - pseudogene GBA3 HGNC ENSG00000249948 96 0 0.00 38 21 35.59 - - - HEATR1 0 genome.wustl.edu 37 1 236749563 236749563 + Silent SNP A A C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 1 236749563 236749563 A C SNP HEATR1 ENST00000366582 human ensembl 69_37n -1 known silent c.1905 p.P635 0.553 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 99 0 0.00 155 51 24.64 - - - HERC1 0 genome.wustl.edu 37 15 63918305 63918306 + Frame_Shift_Ins INS - - G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 15 63918305 63918306 - G INS HERC1 ENST00000443617 human ensembl 69_37n -1 known frame_shift_ins c.13154_13153 p.Q4385fs 1.000:1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 30 0 0.00 41 5 10.87 - - - HMMR 0 genome.wustl.edu 37 5 162905690 162905690 + Silent SNP G G T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 5 162905690 162905690 G T SNP HMMR ENST00000393915 human ensembl 69_37n +1 known silent c.1269 p.G423 1.000 NULL NULL - no_errors HMMR HGNC ENSG00000072571 298 0 0.00 292 80 21.51 - - - HS6ST1 0 genome.wustl.edu 37 2 129026227 129026227 + Missense_Mutation SNP G G T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 2 129026227 129026227 G T SNP HS6ST1 ENST00000259241 human ensembl 69_37n -1 known missense c.745 p.R249S 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST1 HGNC ENSG00000136720 11 0 0.00 0 3 100.00 - - - KALRN 0 genome.wustl.edu 37 3 124223779 124223779 + Silent SNP C C A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 3 124223779 124223779 C A SNP KALRN ENST00000393496 human ensembl 69_37n +1 novel silent c.30 p.S10 0.679 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 50 0 0.00 87 24 21.62 - - - KCNQ5 0 genome.wustl.edu 37 6 73879506 73879506 + Missense_Mutation SNP A A C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 6 73879506 73879506 A C SNP KCNQ5 ENST00000402622 human ensembl 69_37n +1 known missense c.1536 p.E512D 0.980 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 120 0 0.00 107 33 23.57 - - - KIAA1755 0 genome.wustl.edu 37 20 36869429 36869429 + Silent SNP C C A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 20 36869429 36869429 C A SNP KIAA1755 ENST00000279024 human ensembl 69_37n -1 known silent c.1104 p.P368 0.000 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 335 0 0.00 268 165 38.02 - - - KIF4B 0 genome.wustl.edu 37 5 154393807 154393807 + Missense_Mutation SNP A A G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 5 154393807 154393807 A G SNP KIF4B ENST00000435029 human ensembl 69_37n +1 known missense c.388 p.S130G 0.908 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 177 0 0.00 94 59 38.56 - - - KSR1 0 genome.wustl.edu 37 17 25909747 25909747 + Missense_Mutation SNP A A G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 17 25909747 25909747 A G SNP KSR1 ENST00000319524 human ensembl 69_37n +1 known missense c.596 p.D199G 0.802 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 32 0 0.00 17 10 37.04 - - - LIG3 0 genome.wustl.edu 37 17 33323606 33323606 + Missense_Mutation SNP A A G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 17 33323606 33323606 A G SNP LIG3 ENST00000378526 human ensembl 69_37n +1 known missense c.1757 p.Q586R 0.995 pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 118 0 0.00 102 71 40.80 - - - MADD 0 genome.wustl.edu 37 11 47336775 47336775 + Missense_Mutation SNP G G T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 11 47336775 47336775 G T SNP MADD ENST00000311027 human ensembl 69_37n +1 known missense c.4274 p.G1425V 1.000 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 92 0 0.00 88 56 38.89 - - - MAMSTR 0 genome.wustl.edu 37 19 49218105 49218106 + Frame_Shift_Ins INS - - G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 19 49218105 49218106 - G INS MAMSTR ENST00000318083 human ensembl 69_37n -1 known frame_shift_ins c.486_485 p.H163fs 0.043:0.036 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors MAMSTR HGNC ENSG00000176909 30 0 0.00 30 4 11.76 - - - MAP1A 0 genome.wustl.edu 37 15 43814046 43814046 + Missense_Mutation SNP G G C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 15 43814046 43814046 G C SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known missense c.375 p.K125N 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 39 0 0.00 39 14 26.42 - - - MAP6 0 genome.wustl.edu 37 11 75298782 75298782 + Silent SNP G G C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 11 75298782 75298782 G C SNP MAP6 ENST00000304771 human ensembl 69_37n -1 known silent c.1764 p.V588 0.000 NULL pfam_STOP/FAM154 - no_errors MAP6 HGNC ENSG00000171533 259 0 0.00 124 82 39.81 - - - MMP25 0 genome.wustl.edu 37 16 3107152 3107152 + Silent SNP C C A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 16 3107152 3107152 C A SNP MMP25 ENST00000336577 human ensembl 69_37n +1 known silent c.780 p.G260 0.448 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP25 HGNC ENSG00000008516 121 0 0.00 138 53 27.75 - - - MYCBP2 0 genome.wustl.edu 37 13 77862348 77862348 + Nonsense_Mutation SNP G G C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 13 77862348 77862348 G C SNP MYCBP2 ENST00000407578 human ensembl 69_37n -1 known nonsense c.542 p.S181* 1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 205 0 0.00 60 118 65.92 - - - MYH7 0 genome.wustl.edu 37 14 23884326 23884326 + Nonsense_Mutation SNP G G A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 14 23884326 23884326 G A SNP MYH7 ENST00000355349 human ensembl 69_37n -1 known nonsense c.5437 p.Q1813* 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 83 0 0.00 42 39 47.56 - - - MYO1E 0 genome.wustl.edu 37 15 59470680 59470680 + Missense_Mutation SNP C C A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 15 59470680 59470680 C A SNP MYO1E ENST00000288235 human ensembl 69_37n -1 known missense c.1961 p.G654V 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 17 0 0.00 32 16 33.33 - - - NAT6 0 genome.wustl.edu 37 3 50334919 50334919 + Silent SNP G G A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 3 50334919 50334919 G A SNP NAT6 ENST00000354862 human ensembl 69_37n -1 known silent c.42 p.T14 0.005 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT6 HGNC ENSG00000243477 30 0 0.00 8 8 50.00 - - - OR13C2 0 genome.wustl.edu 37 9 107367295 107367295 + Missense_Mutation SNP A A C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 9 107367295 107367295 A C SNP OR13C2 ENST00000542196 human ensembl 69_37n -1 known missense c.614 p.L205W 0.020 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR13C2 HGNC ENSG00000257019 479 0 0.00 476 65 12.01 - - - OR6N1 0 genome.wustl.edu 37 1 158735696 158735696 + Nonsense_Mutation SNP A A T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 1 158735696 158735696 A T SNP OR6N1 ENST00000335094 human ensembl 69_37n -1 known nonsense c.777 p.Y259* 0.985 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6N1 HGNC ENSG00000197403 386 0 0.00 367 213 36.72 - - - PABPC4 0 genome.wustl.edu 37 1 40028055 40028055 + Missense_Mutation SNP C C G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 1 40028055 40028055 C G SNP PABPC4 ENST00000372858 human ensembl 69_37n -1 known missense c.1702 p.E568Q 1.000 superfamily_PABP_HYD,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4 HGNC ENSG00000090621 43 0 0.00 21 9 30.00 - - - PANX3 0 genome.wustl.edu 37 11 124489690 124489690 + Silent SNP G G A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 11 124489690 124489690 G A SNP PANX3 ENST00000284288 human ensembl 69_37n +1 known silent c.1038 p.L346 1.000 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX3 HGNC ENSG00000154143 182 0 0.00 39 100 71.94 - - - PIGO 0 genome.wustl.edu 37 9 35091692 35091693 + Frame_Shift_Ins INS - - G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 9 35091692 35091693 - G INS PIGO ENST00000341666 human ensembl 69_37n -1 known frame_shift_ins c.2192_2191 p.R731fs 0.530:0.180 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 33 0 0.00 22 4 15.38 - - - PKHD1L1 0 genome.wustl.edu 37 8 110503282 110503282 + Missense_Mutation SNP G G C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 8 110503282 110503282 G C SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known missense c.10066 p.D3356H 1.000 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 152 0 0.00 172 30 14.85 - - - PRAMEF2 0 genome.wustl.edu 37 1 12920065 12920065 + Missense_Mutation SNP C C T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 1 12920065 12920065 C T SNP PRAMEF2 ENST00000240189 human ensembl 69_37n +1 known missense c.805 p.L269F 0.011 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 253 0 0.00 308 281 47.71 - - - PRUNE2 0 genome.wustl.edu 37 9 79324701 79324701 + Missense_Mutation SNP T T A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 9 79324701 79324701 T A SNP PRUNE2 ENST00000428286 human ensembl 69_37n -1 known missense c.1412 p.D471V 0.957 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 81 0 0.00 58 54 48.21 - - - PTPN22 0 genome.wustl.edu 37 1 114372636 114372636 + Missense_Mutation SNP C C A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 1 114372636 114372636 C A SNP PTPN22 ENST00000359785 human ensembl 69_37n -1 known missense c.2069 p.R690L 0.574 pirsf_Non-rcpt_Tyr_Pase_8/22 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC ENSG00000134242 93 0 0.00 97 64 39.75 - - - PTPRF 0 genome.wustl.edu 37 1 44085063 44085063 + Missense_Mutation SNP G G A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 1 44085063 44085063 G A SNP PTPRF ENST00000359947 human ensembl 69_37n +1 known missense c.4751 p.R1584Q 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 42 0 0.00 18 10 35.71 - - - RYR3 0 genome.wustl.edu 37 15 33936689 33936689 + Missense_Mutation SNP T T C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 15 33936689 33936689 T C SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.3734 p.V1245A 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 33 0 0.00 38 27 41.54 - - - SALL4 0 genome.wustl.edu 37 20 50407393 50407393 + Silent SNP C C T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 20 50407393 50407393 C T SNP SALL4 ENST00000217086 human ensembl 69_37n -1 known silent c.1629 p.E543 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 67 0 0.00 62 39 38.61 - - - SCYL2 0 genome.wustl.edu 37 12 100720449 100720449 + Missense_Mutation SNP A A G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 12 100720449 100720449 A G SNP SCYL2 ENST00000360820 human ensembl 69_37n +1 known missense c.1559 p.D520G 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SCYL2 HGNC ENSG00000136021 60 0 0.00 72 33 31.43 - - - SPTBN2 0 genome.wustl.edu 37 11 66455032 66455032 + Missense_Mutation SNP C C G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 11 66455032 66455032 C G SNP SPTBN2 ENST00000309996 human ensembl 69_37n -1 known missense c.6588 p.Q2196H 1.000 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type - no_errors SPTBN2 HGNC ENSG00000173898 27 0 0.00 12 25 67.57 - - - TAF5L 0 genome.wustl.edu 37 1 229750159 229750159 + Missense_Mutation SNP T T G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 1 229750159 229750159 T G SNP TAF5L ENST00000258281 human ensembl 69_37n -1 known missense c.71 p.D24A 1.000 NULL pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5L HGNC ENSG00000135801 76 0 0.00 146 48 24.62 - - - TARS 0 genome.wustl.edu 37 5 33455166 33455166 + Missense_Mutation SNP A A C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 5 33455166 33455166 A C SNP TARS ENST00000265112 human ensembl 69_37n +1 known missense c.570 p.E190D 0.620 superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-synth_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa - no_errors TARS HGNC ENSG00000113407 56 0 0.00 61 37 37.76 - - - TEP1 0 genome.wustl.edu 37 14 20872808 20872808 + Missense_Mutation SNP G G C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 14 20872808 20872808 G C SNP TEP1 ENST00000262715 human ensembl 69_37n -1 known missense c.994 p.L332V 1.000 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 75 0 0.00 62 34 35.42 - - - TET2 0 genome.wustl.edu 37 4 106155363 106155363 + Silent SNP T T C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 4 106155363 106155363 T C SNP TET2 ENST00000380013 human ensembl 69_37n +1 known silent c.264 p.C88 0.017 NULL NULL - no_errors TET2 HGNC ENSG00000168769 292 0 0.00 292 187 39.04 - - - TKTL1 0 genome.wustl.edu 37 X 153524215 153524215 + Missense_Mutation SNP G G T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 X 153524215 153524215 G T SNP TKTL1 ENST00000369915 human ensembl 69_37n +1 known missense c.3 p.M1I 0.295 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 TKTL1 HGNC ENSG00000007350 32 0 0.00 35 28 44.44 - - - TNPO1 0 genome.wustl.edu 37 5 72196887 72196887 + Missense_Mutation SNP G G C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 5 72196887 72196887 G C SNP TNPO1 ENST00000337273 human ensembl 69_37n +1 known missense c.2501 p.S834T 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 65 0 0.00 77 37 32.46 - - - TNS1 0 genome.wustl.edu 37 2 218669195 218669195 + Missense_Mutation SNP C C A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 2 218669195 218669195 C A SNP TNS1 ENST00000171887 human ensembl 69_37n -1 known missense c.5195 p.G1732V 1.000 pfam_PTB,smart_PTyr_interaction_dom 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_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 75 0 0.00 85 43 33.59 - - - TRAPPC10 0 genome.wustl.edu 37 21 45483643 45483643 + Missense_Mutation SNP G G A TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 21 45483643 45483643 G A SNP TRAPPC10 ENST00000291574 human ensembl 69_37n +1 known missense c.1015 p.V339M 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 98 0 0.00 60 63 51.22 - - - TRPM5 0 genome.wustl.edu 37 11 2433403 2433403 + Missense_Mutation SNP C C G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 11 2433403 2433403 C G SNP TRPM5 ENST00000452833 human ensembl 69_37n -1 known missense c.2442 p.M814I 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 19 0 0.00 3 5 55.56 - - - UBR4 0 genome.wustl.edu 37 1 19497282 19497282 + Missense_Mutation SNP G G C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 1 19497282 19497282 G C SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.3617 p.S1206C 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 357 0 0.00 312 186 37.35 - - - USH2A 0 genome.wustl.edu 37 1 215916652 215916652 + Silent SNP C C T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 1 215916652 215916652 C T SNP USH2A ENST00000366943 human ensembl 69_37n -1 known silent c.11415 p.V3805 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 92 0 0.00 95 92 49.20 - - - USP33 0 genome.wustl.edu 37 1 78187538 78187538 + Missense_Mutation SNP G G C TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 1 78187538 78187538 G C SNP USP33 ENST00000357428 human ensembl 69_37n -1 known missense c.1728 p.F576L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP33 HGNC ENSG00000077254 81 0 0.00 160 19 10.61 - - - USP7 0 genome.wustl.edu 37 16 8988986 8988986 + Missense_Mutation SNP C C G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 16 8988986 8988986 C G SNP USP7 ENST00000344836 human ensembl 69_37n -1 known missense c.2941 p.D981H 1.000 NULL pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19 - no_errors USP7 HGNC ENSG00000187555 162 0 0.00 203 73 26.35 - - - ZNF385D 0 genome.wustl.edu 37 3 21462907 21462907 + Silent SNP C C T TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbdea951-3dc9-42c2-bfdd-3796c30e928e 69ab5cb1-eaab-4fc0-a45e-85e9fad03b28 3 21462907 21462907 C T SNP ZNF385D ENST00000281523 human ensembl 69_37n -1 known silent c.987 p.K329 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 27 0 0.00 26 19 42.22 - - -