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 ARHGAP17 0 genome.wustl.edu 37 16 24942551 24942551 + Missense_Mutation SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 16 24942551 24942551 G A SNP ARHGAP17 ENST00000289968 human ensembl 69_37n -1 known missense c.2069 p.S690F 0.003 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 93 0 0.00 57 41 41.84 - - - ARHGAP40 0 genome.wustl.edu 37 20 37270404 37270404 + Missense_Mutation SNP C C T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 20 37270404 37270404 C T SNP ARHGAP40 ENST00000373345 human ensembl 69_37n +1 known missense c.1156 p.H386Y 0.965 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP40 HGNC ENSG00000124143 306 0 0.00 193 90 31.80 - - - ATAT1 0 genome.wustl.edu 37 6 30595007 30595007 + Silent SNP C C T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 6 30595007 30595007 C T SNP ATAT1 ENST00000330083 human ensembl 69_37n +1 known silent c.27 p.F9 0.001 NULL pfam_Touch_recpt_neuron_Mec-17,superfamily_Acyl_CoA_acyltransferase - no_errors ATAT1 HGNC ENSG00000137343 236 0 0.00 158 89 36.03 - - - BBS5 0 genome.wustl.edu 37 2 170343618 170343618 + Missense_Mutation SNP C C T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 2 170343618 170343618 C T SNP BBS5 ENST00000554017 human ensembl 69_37n +1 known missense c.182 p.S61F 1.000 pfam_BBL5,smart_DM16_repeat pfam_BBL5,pfam_Kelch_1,smart_DM16_repeat,smart_Kelch_1 - no_errors BBS5 HGNC ENSG00000163093 102 0 0.00 152 86 36.13 - - - C11orf21 0 genome.wustl.edu 37 11 2321978 2321978 + Missense_Mutation SNP C C G TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 11 2321978 2321978 C G SNP C11orf21 ENST00000456145 human ensembl 69_37n -1 known missense c.127 p.D43H 0.002 NULL NULL - no_errors C11orf21 HGNC ENSG00000110665 77 0 0.00 54 24 30.38 - - - C1orf173 0 genome.wustl.edu 37 1 75078444 75078444 + Silent SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 1 75078444 75078444 G A SNP C1orf173 ENST00000326665 human ensembl 69_37n -1 known silent c.1050 p.L350 1.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 108 0 0.00 113 68 37.57 - - - C8orf48 0 genome.wustl.edu 37 8 13425043 13425043 + Missense_Mutation SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 8 13425043 13425043 G A SNP C8orf48 ENST00000297324 human ensembl 69_37n +1 known missense c.543 p.M181I 0.000 NULL NULL - no_errors C8orf48 HGNC ENSG00000164743 99 0 0.00 83 40 32.52 - - - CCT6B 0 genome.wustl.edu 37 17 33278998 33278998 + Missense_Mutation SNP C C G TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 17 33278998 33278998 C G SNP CCT6B ENST00000314144 human ensembl 69_37n -1 known missense c.585 p.E195D 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 144 0 0.00 65 81 55.48 - - - CLDN24 0 genome.wustl.edu 37 4 184243151 184243151 + Missense_Mutation SNP C C G TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 4 184243151 184243151 C G SNP CLDN24 ENST00000541814 human ensembl 69_37n -1 known missense c.429 p.K143N 0.186 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN24 HGNC ENSG00000185758 38 0 0.00 36 22 37.93 - - - COASY 0 genome.wustl.edu 37 17 40715174 40715174 + Silent SNP C C T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 17 40715174 40715174 C T SNP COASY ENST00000590958 human ensembl 69_37n +1 known silent c.621 p.S207 0.998 NULL pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 61 0 0.00 8 22 73.33 - - - COX5A 0 genome.wustl.edu 37 15 75221511 75221511 + Missense_Mutation SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 15 75221511 75221511 G A SNP COX5A ENST00000322347 human ensembl 69_37n -1 known missense c.163 p.R55C 1.000 pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6 pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6 - no_errors COX5A HGNC ENSG00000178741 192 0 0.00 179 86 32.45 - - - DCST1 0 genome.wustl.edu 37 1 155018634 155018634 + Nonsense_Mutation SNP G G T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 1 155018634 155018634 G T SNP DCST1 ENST00000295542 human ensembl 69_37n +1 known nonsense c.1306 p.E436* 0.814 pfam_DC_STAMP-like pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 161 0 0.00 105 65 38.24 - - - DIRAS3 0 genome.wustl.edu 37 1 68512642 68512642 + Silent SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 1 68512642 68512642 G A SNP DIRAS3 ENST00000370981 human ensembl 69_37n -1 known silent c.339 p.V113 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC ENSG00000162595 78 0 0.00 41 31 43.06 - - - FAHD2A 0 genome.wustl.edu 37 2 96076768 96076768 + Missense_Mutation SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 2 96076768 96076768 G A SNP FAHD2A ENST00000233379 human ensembl 69_37n +1 known missense c.679 p.V227I 0.829 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2A HGNC ENSG00000115042 243 0 0.00 140 86 38.05 - - - FAM110B 0 genome.wustl.edu 37 8 59059479 59059479 + Silent SNP C C T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 8 59059479 59059479 C T SNP FAM110B ENST00000361488 human ensembl 69_37n +1 known silent c.690 p.I230 0.507 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 57 0 0.00 55 88 61.54 - - - FPGS 0 genome.wustl.edu 37 9 130575737 130575737 + Missense_Mutation SNP C C T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 9 130575737 130575737 C T SNP FPGS ENST00000373247 human ensembl 69_37n +1 known missense c.1618 p.P540S 0.000 tigrfam_Folylpolyglutamate_synth superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth - no_errors FPGS HGNC ENSG00000136877 45 0 0.00 63 16 20.25 - - - FRMPD1 0 genome.wustl.edu 37 9 37731074 37731074 + Missense_Mutation SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 9 37731074 37731074 G A SNP FRMPD1 ENST00000377765 human ensembl 69_37n +1 known missense c.832 p.V278M 0.990 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 94 0 0.00 40 45 52.94 - - - HGS 0 genome.wustl.edu 37 17 79653400 79653400 + Missense_Mutation SNP G G T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 17 79653400 79653400 G T SNP HGS ENST00000329138 human ensembl 69_37n +1 known missense c.181 p.A61S 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_Ubi-bd_Hrs_VPS27,pfscan_VHS pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 137 0 0.00 114 176 60.69 - - - HSPA4L 0 genome.wustl.edu 37 4 128751921 128751921 + Silent SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 4 128751921 128751921 G A SNP HSPA4L ENST00000439123 human ensembl 69_37n +1 known silent c.2388 p.V796 1.000 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 81 0 0.00 86 49 36.30 - - - ITGAM 0 genome.wustl.edu 37 16 31341486 31341486 + Splice_Site SNP G G T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 16 31341486 31341486 G T SNP ITGAM ENST00000544665 human ensembl 69_37n +1 known splice_site c.3063+1 e26+1 1.000 - - - no_errors ITGAM HGNC ENSG00000169896 42 0 0.00 40 25 38.46 - - - KCTD21 0 genome.wustl.edu 37 11 77885216 77885216 + Missense_Mutation SNP C C T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 11 77885216 77885216 C T SNP KCTD21 ENST00000340067 human ensembl 69_37n -1 known missense c.385 p.E129K 0.983 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD21 HGNC ENSG00000188997 222 0 0.00 111 116 51.10 - - - KNDC1 0 genome.wustl.edu 37 10 135026343 135026343 + Missense_Mutation SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 10 135026343 135026343 G A SNP KNDC1 ENST00000368572 human ensembl 69_37n +1 known missense c.4366 p.A1456T 0.134 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 86 0 0.00 39 21 35.00 - - - KRT81 0 genome.wustl.edu 37 12 52681912 52681912 + Silent SNP C C G TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 12 52681912 52681912 C G SNP KRT81 ENST00000327741 human ensembl 69_37n -1 known silent c.756 p.S252 0.490 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT81 HGNC ENSG00000205426 229 0 0.00 124 39 23.78 - - - LAYN 0 genome.wustl.edu 37 11 111414717 111414717 + Missense_Mutation SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 11 111414717 111414717 G A SNP LAYN ENST00000375615 human ensembl 69_37n +1 known missense c.179 p.R60Q 0.997 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 63 0 0.00 37 36 48.65 - - - LHCGR 0 genome.wustl.edu 37 2 48915909 48915909 + Missense_Mutation SNP A A T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 2 48915909 48915909 A T SNP LHCGR ENST00000294954 human ensembl 69_37n -1 known missense c.1027 p.C343S 0.999 prints_LSH_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_LSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors LHCGR HGNC ENSG00000138039 167 0 0.00 111 79 41.58 - - - LTBP2 0 genome.wustl.edu 37 14 74970002 74970002 + Missense_Mutation SNP C C T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 14 74970002 74970002 C T SNP LTBP2 ENST00000261978 human ensembl 69_37n -1 known missense c.4808 p.R1603H 0.001 pfam_TB_dom,superfamily_TB_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 159 0 0.00 84 54 39.13 - - - MAP3K10 0 genome.wustl.edu 37 19 40711935 40711935 + Missense_Mutation SNP C C T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 19 40711935 40711935 C T SNP MAP3K10 ENST00000253055 human ensembl 69_37n +1 known missense c.1306 p.R436W 0.999 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K10 HGNC ENSG00000130758 34 0 0.00 21 10 31.25 - - - MAZ 0 genome.wustl.edu 37 16 29821526 29821526 + Nonsense_Mutation SNP C C T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 16 29821526 29821526 C T SNP MAZ ENST00000322945 human ensembl 69_37n +1 known nonsense c.1408 p.Q470* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 16 0 0.00 15 12 44.44 - - - MBOAT7 0 genome.wustl.edu 37 19 54691160 54691160 + Silent SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 19 54691160 54691160 G A SNP MBOAT7 ENST00000245615 human ensembl 69_37n -1 known silent c.216 p.H72 0.994 NULL pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 135 0 0.00 76 65 46.10 - - - MRPS11 0 genome.wustl.edu 37 15 89020219 89020219 + Splice_Site SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 15 89020219 89020219 G A SNP MRPS11 ENST00000325844 human ensembl 69_37n +1 known splice_site c.412-1 e5-1 1.000 - - - no_errors MRPS11 HGNC ENSG00000181991 143 0 0.00 104 59 36.20 - - - OR5I1 0 genome.wustl.edu 37 11 55703121 55703121 + Missense_Mutation SNP G G C TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 11 55703121 55703121 G C SNP OR5I1 ENST00000301532 human ensembl 69_37n -1 known missense c.756 p.I252M 0.566 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 128 0 0.00 53 54 50.47 - - - OTOF 0 genome.wustl.edu 37 2 26707384 26707384 + Missense_Mutation SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 2 26707384 26707384 G A SNP OTOF ENST00000272371 human ensembl 69_37n -1 known missense c.1163 p.T388M 0.997 pfam_FerIin-domain pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 229 0 0.00 124 54 30.17 - - - OTOGL 0 genome.wustl.edu 37 12 80730728 80730728 + Missense_Mutation SNP A A G TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 12 80730728 80730728 A G SNP OTOGL ENST00000458043 human ensembl 69_37n +1 known missense c.4777 p.K1593E 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 38 0 0.00 36 24 40.00 - - - P2RY4 0 genome.wustl.edu 37 X 69479266 69479266 + Missense_Mutation SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb X 69479266 69479266 G A SNP P2RY4 ENST00000374519 human ensembl 69_37n -1 known missense c.209 p.T70M 0.732 pfam_7TM_GPCR_Rhodpsn,prints_P2Y4_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2U_purnocptor,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_P2Y4_purnocptor,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2U_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors P2RY4 HGNC ENSG00000186912 85 0 0.00 73 41 35.65 - - - PAX5 0 genome.wustl.edu 37 9 37020655 37020655 + Frame_Shift_Del DEL A A - TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 9 37020655 37020655 A - DEL PAX5 ENST00000358127 human ensembl 69_37n -1 known frame_shift_del c.190 p.C64fs 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX5 HGNC ENSG00000196092 126 0 0.00 42 38 46.34 - - - PCDHAC2 0 genome.wustl.edu 37 5 140348769 140348769 + Missense_Mutation SNP C C A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 5 140348769 140348769 C A SNP PCDHAC2 ENST00000289269 human ensembl 69_37n +1 known missense c.2418 p.F806L 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 65 0 0.00 55 37 40.22 - - - PDGFRA 0 genome.wustl.edu 37 4 55133783 55133783 + Silent SNP C C G TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 4 55133783 55133783 C G SNP PDGFRA ENST00000257290 human ensembl 69_37n +1 known silent c.996 p.V332 0.146 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRA HGNC ENSG00000134853 43 0 0.00 45 24 34.78 - - - QSER1 0 genome.wustl.edu 37 11 32955061 32955061 + Missense_Mutation SNP G G T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 11 32955061 32955061 G T SNP QSER1 ENST00000399302 human ensembl 69_37n +1 known missense c.1870 p.V624F 0.917 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 52 0 0.00 44 24 35.29 - - - SERPINA6 0 genome.wustl.edu 37 14 94770757 94770757 + Nonstop_Mutation SNP A A C TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 14 94770757 94770757 A C SNP SERPINA6 ENST00000341584 human ensembl 69_37n -1 known nonstop c.1216 p.*406E 0.000 NULL pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA6 HGNC ENSG00000170099 110 0 0.00 80 50 38.46 - - - SLC2A14 0 genome.wustl.edu 37 12 7981305 7981305 + Missense_Mutation SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 12 7981305 7981305 G A SNP SLC2A14 ENST00000396589 human ensembl 69_37n -1 known missense c.740 p.T247M 0.000 pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,tigrfam_Sugar/inositol_transpt - no_errors SLC2A14 HGNC ENSG00000173262 126 0 0.00 118 71 37.37 - - - SNX10 0 genome.wustl.edu 37 7 26404752 26404752 + Missense_Mutation SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 7 26404752 26404752 G A SNP SNX10 ENST00000446848 human ensembl 69_37n +1 known missense c.376 p.D126N 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX10 HGNC ENSG00000086300 93 0 0.00 74 54 42.19 - - - TROAP 0 genome.wustl.edu 37 12 49724652 49724652 + Missense_Mutation SNP C C G TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 12 49724652 49724652 C G SNP TROAP ENST00000257909 human ensembl 69_37n +1 known missense c.2024 p.S675C 0.994 NULL NULL - no_errors TROAP HGNC ENSG00000135451 215 0 0.00 159 80 33.47 - - - TSPAN7 0 genome.wustl.edu 37 X 38533518 38533518 + Missense_Mutation SNP C C A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb X 38533518 38533518 C A SNP TSPAN7 ENST00000422612 human ensembl 69_37n +1 known missense c.467 p.T156N 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN7 HGNC ENSG00000156298 141 0 0.00 90 50 35.71 - - - TWISTNB 0 genome.wustl.edu 37 7 19739894 19739894 + Missense_Mutation SNP T T A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 7 19739894 19739894 T A SNP TWISTNB ENST00000222567 human ensembl 69_37n -1 known missense c.406 p.N136Y 1.000 NULL pfam_RNA_pol_Rpb7_N - no_errors TWISTNB HGNC ENSG00000105849 70 0 0.00 93 33 26.19 - - - UQCRC2 0 genome.wustl.edu 37 16 21994417 21994417 + Missense_Mutation SNP G G C TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 16 21994417 21994417 G C SNP UQCRC2 ENST00000268379 human ensembl 69_37n +1 known missense c.1287 p.K429N 1.000 superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors UQCRC2 HGNC ENSG00000140740 68 0 0.00 85 61 41.50 - - - ZNF498 0 genome.wustl.edu 37 7 99219167 99219167 + Nonsense_Mutation SNP G G T TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 7 99219167 99219167 G T SNP ZNF498 ENST00000334715 human ensembl 69_37n +1 known nonsense c.559 p.G187* 0.984 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF498 HGNC ENSG00000197037 68 0 0.00 85 23 21.30 - - - ZSCAN2 0 genome.wustl.edu 37 15 85164365 85164365 + Silent SNP G G A TCGA-C8-A137-01A-11D-A10Y-09 TCGA-C8-A137-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 08778f40-d895-46f1-8e7b-122fc598418b 16cfd410-cb75-4177-884e-c3abf7e4aebb 15 85164365 85164365 G A SNP ZSCAN2 ENST00000448803 human ensembl 69_37n +1 known silent c.939 p.K313 0.877 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 72 0 0.00 65 23 26.14 - - -