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 ACTN2 0 genome.wustl.edu 37 1 236918367 236918367 + Missense_Mutation SNP A A C TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 1 236918367 236918367 A C SNP ACTN2 ENST00000366578 human ensembl 69_37n +1 known missense c.2023 p.M675L 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN2 HGNC ENSG00000077522 172 0 0.00 49 10 16.95 - - - ANKRD30BL 0 genome.wustl.edu 37 2 133015476 133015476 + RNA SNP A A T TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 2 133015476 133015476 A T SNP ANKRD30BL ENST00000470729 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors ANKRD30BL HGNC ENSG00000163046 48 0 0.00 42 7 14.00 - - - C11orf16 0 genome.wustl.edu 37 11 8950998 8950998 + Missense_Mutation SNP C C A TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 11 8950998 8950998 C A SNP C11orf16 ENST00000326053 human ensembl 69_37n -1 known missense c.250 p.A84S 0.020 NULL NULL - no_errors C11orf16 HGNC ENSG00000176029 203 0 0.00 67 16 19.28 - - - CDKN2AIP 0 genome.wustl.edu 37 4 184367676 184367676 + Missense_Mutation SNP C C T TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 4 184367676 184367676 C T SNP CDKN2AIP ENST00000504169 human ensembl 69_37n +1 known missense c.839 p.S280L 0.000 NULL pfam_DUF3469,pfscan_Ds-RNA-bd - no_errors CDKN2AIP HGNC ENSG00000168564 111 0 0.00 67 17 20.24 - - - CEL 0 genome.wustl.edu 37 9 135944195 135944195 + Silent SNP C C T TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 9 135944195 135944195 C T SNP CEL ENST00000372080 human ensembl 69_37n +1 known silent c.1041 p.F347 0.979 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 97 0 0.00 11 3 21.43 - - - CENPF 0 genome.wustl.edu 37 1 214794222 214794222 + Silent SNP T T C TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 1 214794222 214794222 T C SNP CENPF ENST00000366955 human ensembl 69_37n +1 known silent c.798 p.A266 0.000 pfam_Centromere_CenpF_N pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 40 0 0.00 69 76 52.41 - - - CGB7 0 genome.wustl.edu 37 19 49557572 49557572 + Silent SNP T T C TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 19 49557572 49557572 T C SNP CGB7 ENST00000377280 human ensembl 69_37n -1 known silent c.474 p.S158 0.123 NULL pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB7 HGNC ENSG00000196337 17 0 0.00 37 10 21.28 - - - CHRM1 0 genome.wustl.edu 37 11 62677587 62677587 + Missense_Mutation SNP G G C TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 11 62677587 62677587 G C SNP CHRM1 ENST00000306960 human ensembl 69_37n -1 known missense c.986 p.P329R 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Musac_M1_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors CHRM1 HGNC ENSG00000168539 27 0 0.00 18 4 18.18 - - - CHSY3 0 genome.wustl.edu 37 5 129520027 129520027 + Missense_Mutation SNP A A T TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 5 129520027 129520027 A T SNP CHSY3 ENST00000305031 human ensembl 69_37n +1 known missense c.1192 p.R398W 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 107 0 0.00 18 29 60.42 - - - DIAPH3 0 genome.wustl.edu 37 13 60240935 60240935 + Missense_Mutation SNP T T C TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 13 60240935 60240935 T C SNP DIAPH3 ENST00000400324 human ensembl 69_37n -1 known missense c.3365 p.N1122S 0.933 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH3 HGNC ENSG00000139734 89 0 0.00 96 62 39.24 - - - FAM120C 0 genome.wustl.edu 37 X 54099576 54099576 + Missense_Mutation SNP C C G TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 X 54099576 54099576 C G SNP FAM120C ENST00000375180 human ensembl 69_37n -1 known missense c.3181 p.D1061H 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 126 0 0.00 69 70 50.36 - - - FAM171A1 0 genome.wustl.edu 37 10 15256057 15256057 + Silent SNP T T C TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 10 15256057 15256057 T C SNP FAM171A1 ENST00000378116 human ensembl 69_37n -1 known silent c.1530 p.G510 0.959 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 53 0 0.00 37 17 31.48 - - - FAM22D 0 genome.wustl.edu 37 10 89124862 89124862 + Missense_Mutation SNP G G A TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 10 89124862 89124862 G A SNP FAM22D ENST00000381697 human ensembl 69_37n +1 known missense c.1420 p.E474K 0.000 NULL NULL - no_errors FAM22D HGNC ENSG00000214562 10 0 0.00 2 6 75.00 - - - FAM3C 0 genome.wustl.edu 37 7 121018965 121018965 + Missense_Mutation SNP A A C TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 7 121018965 121018965 A C SNP FAM3C ENST00000359943 human ensembl 69_37n -1 known missense c.117 p.F39L 1.000 NULL NULL - no_errors FAM3C HGNC ENSG00000196937 28 0 0.00 62 25 28.74 - - - FBXO39 0 genome.wustl.edu 37 17 6684022 6684022 + Missense_Mutation SNP C C A TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 17 6684022 6684022 C A SNP FBXO39 ENST00000321535 human ensembl 69_37n +1 known missense c.835 p.Q279K 0.997 NULL NULL - no_errors FBXO39 HGNC ENSG00000177294 78 0 0.00 25 7 21.88 - - - FRG1 0 genome.wustl.edu 37 4 190874281 190874281 + Splice_Site SNP G G T TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 4 190874281 190874281 G T SNP FRG1 ENST00000226798 human ensembl 69_37n +1 known splice_site c.317+1 e4+1 1.000 - - - no_errors FRG1 HGNC ENSG00000109536 40 0 0.00 259 40 13.38 - - - GTPBP8 0 genome.wustl.edu 37 3 112710242 112710242 + Silent SNP T T C TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 3 112710242 112710242 T C SNP GTPBP8 ENST00000471627 human ensembl 69_37n +1 known silent c.396 p.P132 0.000 NULL NULL - no_errors GTPBP8 HGNC ENSG00000163607 11 0 0.00 0 6 100.00 - - - HERC2P2 0 genome.wustl.edu 37 15 23318586 23318586 + RNA SNP C C A TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 15 23318586 23318586 C A SNP HERC2P2 ENST00000560464 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HERC2P2 HGNC ENSG00000140181 46 0 0.00 25 4 13.79 - - - HSPG2 0 genome.wustl.edu 37 1 22176924 22176924 + Missense_Mutation SNP A A C TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 1 22176924 22176924 A C SNP HSPG2 ENST00000374695 human ensembl 69_37n -1 known missense c.7226 p.V2409G 0.751 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 25 0 0.00 7 7 50.00 - - - KDM4C 0 genome.wustl.edu 37 9 7011799 7011799 + Missense_Mutation SNP G G T TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 9 7011799 7011799 G T SNP KDM4C ENST00000381309 human ensembl 69_37n +1 known missense c.1888 p.A630S 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 83 0 0.00 18 32 64.00 - - - KHDRBS3 0 genome.wustl.edu 37 8 136619254 136619254 + Missense_Mutation SNP T T A TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 8 136619254 136619254 T A SNP KHDRBS3 ENST00000355849 human ensembl 69_37n +1 known missense c.864 p.D288E 1.000 NULL smart_KH_dom - no_errors KHDRBS3 HGNC ENSG00000131773 158 0 0.00 440 57 11.45 - - - KLHDC8B 0 genome.wustl.edu 37 3 49211701 49211701 + Missense_Mutation SNP G G A TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 3 49211701 49211701 G A SNP KLHDC8B ENST00000332780 human ensembl 69_37n +1 known missense c.406 p.G136S 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8B HGNC ENSG00000185909 37 0 0.00 17 19 52.78 - - - LAMB4 0 genome.wustl.edu 37 7 107732103 107732103 + Missense_Mutation SNP C C T TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 7 107732103 107732103 C T SNP LAMB4 ENST00000205386 human ensembl 69_37n -1 known missense c.1669 p.E557K 1.000 smart_EGF_laminin,pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 64 0 0.00 46 12 20.69 - - - MED24 0 genome.wustl.edu 37 17 38187823 38187823 + Silent SNP G G A TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 17 38187823 38187823 G A SNP MED24 ENST00000394128 human ensembl 69_37n -1 known silent c.1035 p.T345 0.018 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 42 0 0.00 14 27 65.85 - - - MIR548H3 0 genome.wustl.edu 37 17 13446924 13446924 + RNA SNP G G A TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 17 13446924 13446924 G A SNP MIR548H3 ENST00000408771 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors MIR548H3 HGNC ENSG00000221698 8 0 0.00 26 122 82.43 - - - MYRIP 0 genome.wustl.edu 37 3 40291713 40291713 + Missense_Mutation SNP A A G TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 3 40291713 40291713 A G SNP MYRIP ENST00000302541 human ensembl 69_37n +1 known missense c.2263 p.I755V 1.000 pfam_Myelin-assoc_OBP pfam_Myelin-assoc_OBP,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MYRIP HGNC ENSG00000170011 157 0 0.00 44 53 54.64 - - - NBPF10 0 genome.wustl.edu 37 1 145302775 145302775 + Missense_Mutation SNP T T G TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 1 145302775 145302775 T G SNP NBPF10 ENST00000342960 human ensembl 69_37n +1 known missense c.1213 p.Y405D 0.000 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 8 0 0.00 0 13 100.00 - - - OR4P4 0 genome.wustl.edu 37 11 55406228 55406228 + Missense_Mutation SNP T T A TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 11 55406228 55406228 T A SNP OR4P4 ENST00000314612 human ensembl 69_37n +1 known missense c.395 p.I132N 0.035 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4P4 HGNC ENSG00000181927 117 0 0.00 114 19 14.29 - - - PCNXL2 0 genome.wustl.edu 37 1 233397811 233397811 + Missense_Mutation SNP G G A TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 1 233397811 233397811 G A SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known missense c.460 p.H154Y 0.322 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 183 0 0.00 120 21 14.89 - - - PLEKHM2 0 genome.wustl.edu 37 1 16043237 16043237 + Missense_Mutation SNP T T C TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 1 16043237 16043237 T C SNP PLEKHM2 ENST00000375799 human ensembl 69_37n +1 known missense c.203 p.V68A 1.000 pfam_Run,pfscan_Run pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 139 0 0.00 25 7 21.88 - - - PMP22 0 genome.wustl.edu 37 17 15134333 15134333 + Missense_Mutation SNP C C T TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 17 15134333 15134333 C T SNP PMP22 ENST00000494511 human ensembl 69_37n -1 novel missense c.205 p.G69R 0.000 NULL NULL - no_errors PMP22 HGNC ENSG00000109099 34 0 0.00 5 16 76.19 - - - RBMX 0 genome.wustl.edu 37 X 135956571 135956572 + Frame_Shift_Ins INS - - GG TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 X 135956571 135956572 - GG INS RBMX ENST00000320676 human ensembl 69_37n -1 known frame_shift_ins c.906_905 p.S303fs 1.000:1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 66 0 0.00 26 4 13.33 - - - SAP25 0 genome.wustl.edu 37 7 100170027 100170027 + Silent SNP G G C TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 7 100170027 100170027 G C SNP SAP25 ENST00000538735 human ensembl 69_37n -1 known silent c.483 p.S161 0.000 NULL NULL - no_errors SAP25 HGNC ENSG00000205307 22 0 0.00 14 4 22.22 - - - SDHAP1 0 genome.wustl.edu 37 3 195701310 195701311 + Splice_Site INS - - AA TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 3 195701310 195701311 - AA INS SDHAP1 ENST00000354937 human ensembl 69_37n -1 known splice_site_ins c.NULL NULL 1.000:0.999 - - - no_coding_region:pseudogene SDHAP1 HGNC ENSG00000185485 27 0 0.00 19 17 47.22 - - - SLC37A2 0 genome.wustl.edu 37 11 124947362 124947362 + Missense_Mutation SNP G G C TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 11 124947362 124947362 G C SNP SLC37A2 ENST00000308074 human ensembl 69_37n +1 known missense c.252 p.K84N 0.998 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A2 HGNC ENSG00000134955 92 0 0.00 21 26 55.32 - - - SMG1 0 genome.wustl.edu 37 16 18872050 18872050 + Silent SNP C C T TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 16 18872050 18872050 C T SNP SMG1 ENST00000389467 human ensembl 69_37n -1 known silent c.3744 p.Q1248 0.981 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 12 0 0.00 98 92 48.42 - - - TP53 0 genome.wustl.edu 37 17 7578246 7578247 + Frame_Shift_Ins INS - - A TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 17 7578246 7578247 - A INS TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_ins c.603_602 p.L201fs 0.000:0.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 181 0 0.00 56 76 57.58 - - - TRAPPC10 0 genome.wustl.edu 37 21 45479068 45479068 + Nonsense_Mutation SNP C C T TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 21 45479068 45479068 C T SNP TRAPPC10 ENST00000291574 human ensembl 69_37n +1 known nonsense c.763 p.Q255* 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 62 0 0.00 16 8 33.33 - - - TTN 0 genome.wustl.edu 37 2 179443676 179443676 + Missense_Mutation SNP C C T TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 2 179443676 179443676 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.60377 p.C20126Y 0.998 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 101 0 0.00 54 29 34.52 - - - TUBA3FP 0 genome.wustl.edu 37 22 21363561 21363561 + RNA SNP T T C TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 22 21363561 21363561 T C SNP TUBA3FP ENST00000292748 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors TUBA3FP HGNC ENSG00000161149 13 0 0.00 48 41 45.56 - - - XKR4 0 genome.wustl.edu 37 8 56435907 56435907 + Silent SNP G G A TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 8 56435907 56435907 G A SNP XKR4 ENST00000327381 human ensembl 69_37n +1 known silent c.1074 p.R358 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 297 1 0.33 43 26 37.68 - - - XPO4 0 genome.wustl.edu 37 13 21382693 21382693 + Silent SNP G G C TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 13 21382693 21382693 G C SNP XPO4 ENST00000255305 human ensembl 69_37n -1 known silent c.1521 p.L507 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 82 0 0.00 91 49 35.00 - - - ZNF254 0 genome.wustl.edu 37 19 24310770 24310770 + Missense_Mutation SNP C C G TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 19 24310770 24310770 C G SNP ZNF254 ENST00000357002 human ensembl 69_37n +1 known missense c.1968 p.I656M 0.134 NULL 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 ZNF254 HGNC ENSG00000213096 25 0 0.00 20 13 39.39 - - - ZNF469 0 genome.wustl.edu 37 16 88501728 88501728 + Missense_Mutation SNP G G C TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 16 88501728 88501728 G C SNP ZNF469 ENST00000437464 human ensembl 69_37n +1 known missense c.7766 p.R2589P 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 9 0 0.00 9 5 35.71 - - - ZNF644 0 genome.wustl.edu 37 1 91406655 91406655 + Missense_Mutation SNP C C T TCGA-BH-A0BG-01A-11D-A10Y-09 TCGA-BH-A0BG-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 923ee16a-2c42-46ee-b2cb-82075f2dd603 483a4feb-931f-40f8-964d-29104030ebe7 1 91406655 91406655 C T SNP ZNF644 ENST00000337393 human ensembl 69_37n -1 known missense c.256 p.A86T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 108 0 0.00 158 47 22.93 - - -