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 AEBP2 0 genome.wustl.edu 37 12 19615485 19615485 + Missense_Mutation SNP G G A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 12 19615485 19615485 G A SNP AEBP2 ENST00000398864 human ensembl 69_37n +1 known missense c.713 p.S238N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors AEBP2 HGNC ENSG00000139154 197 0 0.00 237 220 48.14 - - - ALDH3A1 0 genome.wustl.edu 37 17 19643676 19643676 + Missense_Mutation SNP T T G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 17 19643676 19643676 T G SNP ALDH3A1 ENST00000225740 human ensembl 69_37n -1 known missense c.922 p.T308P 0.426 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 23 0 0.00 13 10 41.67 - - - ALPK1 0 genome.wustl.edu 37 4 113352476 113352476 + Silent SNP C C G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 4 113352476 113352476 C G SNP ALPK1 ENST00000177648 human ensembl 69_37n +1 known silent c.1773 p.S591 0.042 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 119 0 0.00 158 120 43.17 - - - AP5Z1 0 genome.wustl.edu 37 7 4822959 4822961 + In_Frame_Del DEL GAG GAG - TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 7 4822959 4822961 GAG - DEL AP5Z1 ENST00000348624 human ensembl 69_37n +1 known in_frame_del c.379_381 p.E128in_frame_del 0.000:0.007:0.016 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 12 0 0.00 12 8 40.00 - - - ARL9 0 genome.wustl.edu 37 4 57389906 57389906 + Missense_Mutation SNP T T C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 4 57389906 57389906 T C SNP ARL9 ENST00000360096 human ensembl 69_37n +1 known missense c.428 p.L143S 0.995 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL9 HGNC ENSG00000196503 171 0 0.00 421 132 23.87 - - - B3GNT9 0 genome.wustl.edu 37 16 67183399 67183399 + Silent SNP G G A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 16 67183399 67183399 G A SNP B3GNT9 ENST00000449549 human ensembl 69_37n -1 known silent c.990 p.P330 0.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT9 HGNC ENSG00000237172 47 0 0.00 38 6 13.33 - - - BICC1 0 genome.wustl.edu 37 10 60556134 60556134 + Missense_Mutation SNP T T C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 10 60556134 60556134 T C SNP BICC1 ENST00000373886 human ensembl 69_37n +1 known missense c.1214 p.L405S 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 190 0 0.00 263 96 26.74 - - - BYSL 0 genome.wustl.edu 37 6 41899224 41899224 + Nonsense_Mutation SNP C C A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 6 41899224 41899224 C A SNP BYSL ENST00000230340 human ensembl 69_37n +1 known nonsense c.795 p.Y265* 1.000 pfam_Bystin pfam_Bystin - no_errors BYSL HGNC ENSG00000112578 31 0 0.00 53 35 39.77 - - - C21orf119 0 genome.wustl.edu 37 21 33765564 33765564 + Frame_Shift_Del DEL G G - TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 21 33765564 33765564 G - DEL C21orf119 ENST00000534991 human ensembl 69_37n +1 known frame_shift_del c.33 p.P13fs 0.000 NULL NULL - no_errors C21orf119 HGNC ENSG00000256073 41 0 0.00 11 4 12.50 - - - CCDC142 0 genome.wustl.edu 37 2 74708349 74708349 + Splice_Site DEL C C - TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 2 74708349 74708349 C - DEL CCDC142 ENST00000393965 human ensembl 69_37n -1 known splice_site_del c.1258+1 e3+1 0.987 - - - no_errors CCDC142 HGNC ENSG00000135637 189 0 0.00 107 20 15.75 - - - CD248 0 genome.wustl.edu 37 11 66082644 66082644 + Missense_Mutation SNP T T G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 11 66082644 66082644 T G SNP CD248 ENST00000311330 human ensembl 69_37n -1 known missense c.1855 p.T619P 0.007 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 72 0 0.00 141 19 11.45 - - - CDC27 0 genome.wustl.edu 37 17 45234484 45234484 + Missense_Mutation SNP T T C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 17 45234484 45234484 T C SNP CDC27 ENST00000531206 human ensembl 69_37n -1 known missense c.637 p.N213D 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 130 1 0.76 85 11 11.46 - - - CDCA5 0 genome.wustl.edu 37 11 64846795 64846795 + Silent SNP G G A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 11 64846795 64846795 G A SNP CDCA5 ENST00000404147 human ensembl 69_37n -1 novel silent c.708 p.A236 0.000 NULL pfam_Sororin - no_errors CDCA5 HGNC ENSG00000146670 246 1 0.40 145 63 30.14 - - - CDCP1 0 genome.wustl.edu 37 3 45132898 45132898 + Missense_Mutation SNP C C A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 3 45132898 45132898 C A SNP CDCP1 ENST00000296129 human ensembl 69_37n -1 known missense c.1760 p.C587F 0.998 NULL superfamily_CUB - no_errors CDCP1 HGNC ENSG00000163814 70 0 0.00 17 33 66.00 - - - CFH 0 genome.wustl.edu 37 1 196715013 196715013 + Missense_Mutation SNP C C T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 1 196715013 196715013 C T SNP CFH ENST00000367429 human ensembl 69_37n +1 known missense c.3377 p.S1126L 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 195 0 0.00 435 178 28.94 - - - CHD2 0 genome.wustl.edu 37 15 93527730 93527730 + Silent SNP G G A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 15 93527730 93527730 G A SNP CHD2 ENST00000557381 human ensembl 69_37n +1 putative silent c.3237 p.K1079 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 407 0 0.00 378 270 41.60 - - - CLCN1 0 genome.wustl.edu 37 7 143028368 143028368 + Silent SNP C C T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 7 143028368 143028368 C T SNP CLCN1 ENST00000343257 human ensembl 69_37n +1 known silent c.1023 p.F341 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 303 0 0.00 395 113 22.16 - - - CRISPLD1 0 genome.wustl.edu 37 8 75898239 75898239 + Missense_Mutation SNP G G T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 8 75898239 75898239 G T SNP CRISPLD1 ENST00000262207 human ensembl 69_37n +1 known missense c.17 p.R6L 0.099 NULL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 141 0 0.00 178 37 17.21 - - - CSE1L 0 genome.wustl.edu 37 20 47712832 47712832 + RNA SNP G G C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 20 47712832 47712832 G C SNP CSE1L ENST00000469700 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors CSE1L HGNC ENSG00000124207 89 0 0.00 105 54 33.96 - - - CXorf61 0 genome.wustl.edu 37 X 115593150 115593150 + Missense_Mutation SNP T T G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 X 115593150 115593150 T G SNP CXorf61 ENST00000371894 human ensembl 69_37n -1 known missense c.100 p.N34H 0.000 NULL NULL - no_errors CXorf61 HGNC ENSG00000204019 150 0 0.00 264 138 34.33 - - - DCC 0 genome.wustl.edu 37 18 50976897 50976897 + Missense_Mutation SNP C C T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 18 50976897 50976897 C T SNP DCC ENST00000442544 human ensembl 69_37n +1 known missense c.3257 p.P1086L 0.995 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 222 0 0.00 65 224 77.24 - - - DHDDS 0 genome.wustl.edu 37 1 26795453 26795453 + Missense_Mutation SNP C C T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 1 26795453 26795453 C T SNP DHDDS ENST00000360009 human ensembl 69_37n +1 known missense c.836 p.T279I 1.000 NULL pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like - no_errors DHDDS HGNC ENSG00000117682 46 0 0.00 21 6 21.43 - - - DMXL2 0 genome.wustl.edu 37 15 51828921 51828921 + Missense_Mutation SNP C C G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 15 51828921 51828921 C G SNP DMXL2 ENST00000543779 human ensembl 69_37n -1 known missense c.1756 p.V586L 0.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 98 0 0.00 81 138 63.01 - - - DSCR3 0 genome.wustl.edu 37 21 38599972 38599972 + Missense_Mutation SNP G G T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 21 38599972 38599972 G T SNP DSCR3 ENST00000309117 human ensembl 69_37n -1 known missense c.794 p.T265N 1.000 pfam_VPS26 pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set - no_errors DSCR3 HGNC ENSG00000157538 84 0 0.00 34 48 58.54 - - - DST 0 genome.wustl.edu 37 6 56418240 56418241 + Frame_Shift_Ins INS - - T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 6 56418240 56418241 - T INS DST ENST00000370754 human ensembl 69_37n -1 known frame_shift_ins c.15257_15256 p.T5086fs 0.997:1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 86 0 0.00 264 44 14.29 - - - EGFR 0 genome.wustl.edu 37 7 55249078 55249078 + Silent SNP C C G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 7 55249078 55249078 C G SNP EGFR ENST00000275493 human ensembl 69_37n +1 known silent c.2376 p.L792 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000146648 43 0 0.00 30 13 30.23 - - - EPAS1 0 genome.wustl.edu 37 2 46588144 46588144 + Missense_Mutation SNP C C A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 2 46588144 46588144 C A SNP EPAS1 ENST00000263734 human ensembl 69_37n +1 known missense c.694 p.P232T 1.000 smart_PAS pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 102 0 0.00 61 44 41.90 - - - ETHE1 0 genome.wustl.edu 37 19 44030361 44030361 + Missense_Mutation SNP C C A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 19 44030361 44030361 C A SNP ETHE1 ENST00000292147 human ensembl 69_37n -1 known missense c.367 p.G123W 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors ETHE1 HGNC ENSG00000105755 100 0 0.00 44 21 32.31 - - - FDXR 0 genome.wustl.edu 37 17 72868246 72868246 + Missense_Mutation SNP T T C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 17 72868246 72868246 T C SNP FDXR ENST00000581530 human ensembl 69_37n -1 known missense c.92 p.H31R 0.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FDXR HGNC ENSG00000161513 128 0 0.00 49 28 35.90 - - - FRG1 0 genome.wustl.edu 37 4 190876278 190876278 + Missense_Mutation SNP G G A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 4 190876278 190876278 G A SNP FRG1 ENST00000226798 human ensembl 69_37n +1 known missense c.404 p.R135K 1.000 pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FRG1 HGNC ENSG00000109536 43 0 0.00 164 22 11.83 - - - GALNT1 0 genome.wustl.edu 37 18 33289620 33289620 + Missense_Mutation SNP G G T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 18 33289620 33289620 G T SNP GALNT1 ENST00000269195 human ensembl 69_37n +1 known missense c.1566 p.Q522H 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT1 HGNC ENSG00000141429 72 0 0.00 215 56 20.66 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685232 23685232 + Missense_Mutation SNP A A G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 15 23685232 23685232 A G SNP GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative missense c.2390 p.V797A 0.005 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 8 0 0.00 30 19 38.78 - - - GPR135 0 genome.wustl.edu 37 14 59931648 59931648 + Frame_Shift_Del DEL G G - TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 14 59931648 59931648 G - DEL GPR135 ENST00000395116 human ensembl 69_37n -1 known frame_shift_del c.297 p.H99fs 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR135 HGNC ENSG00000181619 21 0 0.00 6 2 25.00 - - - GPR20 0 genome.wustl.edu 37 8 142367953 142367953 + Missense_Mutation SNP C C A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 8 142367953 142367953 C A SNP GPR20 ENST00000377741 human ensembl 69_37n -1 known missense c.71 p.R24L 0.420 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 16 0 0.00 16 17 51.52 - - - HTATSF1 0 genome.wustl.edu 37 X 135584979 135584979 + Missense_Mutation SNP G G A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 X 135584979 135584979 G A SNP HTATSF1 ENST00000218364 human ensembl 69_37n +1 known missense c.613 p.E205K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 124 0 0.00 157 19 10.80 - - - JHDM1D 0 genome.wustl.edu 37 7 139801836 139801836 + Missense_Mutation SNP T T C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 7 139801836 139801836 T C SNP JHDM1D ENST00000397560 human ensembl 69_37n -1 known missense c.1553 p.N518S 0.971 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 160 0 0.00 89 217 70.92 - - - KANK2 0 genome.wustl.edu 37 19 11287322 11287322 + Silent SNP C C A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 19 11287322 11287322 C A SNP KANK2 ENST00000432929 human ensembl 69_37n -1 known silent c.1716 p.L572 0.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 53 0 0.00 27 49 63.64 - - - KCTD18 0 genome.wustl.edu 37 2 201354837 201354837 + Missense_Mutation SNP T T A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 2 201354837 201354837 T A SNP KCTD18 ENST00000359878 human ensembl 69_37n -1 known missense c.1267 p.N423Y 0.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 97 0 0.00 70 37 34.58 - - - KIAA0020 0 genome.wustl.edu 37 9 2812326 2812326 + Missense_Mutation SNP T T G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 9 2812326 2812326 T G SNP KIAA0020 ENST00000397885 human ensembl 69_37n -1 known missense c.1306 p.K436Q 1.000 pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 268 0 0.00 159 501 75.91 - - - KIAA0368 0 genome.wustl.edu 37 9 114184460 114184460 + Missense_Mutation SNP G G C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 9 114184460 114184460 G C SNP KIAA0368 ENST00000259335 human ensembl 69_37n -1 known missense c.1820 p.T607S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 222 0 0.00 202 82 28.87 - - - KIAA1377 0 genome.wustl.edu 37 11 101833406 101833406 + Missense_Mutation SNP C C G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 11 101833406 101833406 C G SNP KIAA1377 ENST00000263468 human ensembl 69_37n +1 known missense c.1640 p.S547C 0.017 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 63 0 0.00 64 61 48.80 - - - KRTAP10-7 0 genome.wustl.edu 37 21 46020875 46020875 + Silent SNP C C G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 21 46020875 46020875 C G SNP KRTAP10-7 ENST00000380102 human ensembl 69_37n +1 known silent c.354 p.V118 0.137 NULL NULL - no_errors KRTAP10-7 HGNC ENSG00000205441 120 0 0.00 284 83 22.62 - - - LINC00303 0 genome.wustl.edu 37 1 204006652 204006652 + RNA SNP C C A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 1 204006652 204006652 C A SNP LINC00303 ENST00000367207 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors LINC00303 HGNC ENSG00000176754 271 0 0.00 337 343 50.44 - - - LRRC32 0 genome.wustl.edu 37 11 76371666 76371666 + Missense_Mutation SNP T T C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 11 76371666 76371666 T C SNP LRRC32 ENST00000260061 human ensembl 69_37n -1 known missense c.971 p.Y324C 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 56 0 0.00 69 13 15.48 - - - LYST 0 genome.wustl.edu 37 1 235872479 235872479 + Missense_Mutation SNP T T G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 1 235872479 235872479 T G SNP LYST ENST00000389793 human ensembl 69_37n -1 known missense c.10055 p.Q3352P 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,superfamily_ARM-type_fold,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 105 0 0.00 239 64 21.05 - - - MAGEA12 0 genome.wustl.edu 37 X 151900720 151900720 + Silent SNP A A C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 X 151900720 151900720 A C SNP MAGEA12 ENST00000357916 human ensembl 69_37n -1 known silent c.81 p.G27 0.002 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 47 0 0.00 97 17 14.91 - - - MAML1 0 genome.wustl.edu 37 5 179193106 179193106 + Silent SNP G G A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 5 179193106 179193106 G A SNP MAML1 ENST00000292599 human ensembl 69_37n +1 known silent c.1095 p.P365 0.402 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 74 0 0.00 62 39 38.61 - - - MAP4K2 0 genome.wustl.edu 37 11 64557417 64557417 + Missense_Mutation SNP T T A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 11 64557417 64557417 T A SNP MAP4K2 ENST00000294066 human ensembl 69_37n -1 known missense c.2263 p.S755C 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K2 HGNC ENSG00000168067 51 0 0.00 6 8 57.14 - - - MDN1 0 genome.wustl.edu 37 6 90497640 90497640 + Missense_Mutation SNP G G A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 6 90497640 90497640 G A SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known missense c.1267 p.L423F 0.998 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 127 0 0.00 206 255 55.31 - - - MIR1207 0 genome.wustl.edu 37 8 129061432 129061432 + RNA SNP G G C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 8 129061432 129061432 G C SNP MIR1207 ENST00000408249 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MIR1207 HGNC ENSG00000221176 105 0 0.00 291 36 11.01 - - - MMADHC 0 genome.wustl.edu 37 2 150443603 150443603 + Silent SNP A A G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 2 150443603 150443603 A G SNP MMADHC ENST00000303319 human ensembl 69_37n -1 known silent c.9 p.N3 1.000 NULL pfam_MMADHC - no_errors MMADHC HGNC ENSG00000168288 154 0 0.00 251 51 16.89 - - - MTHFD1 0 genome.wustl.edu 37 14 64891602 64891602 + Missense_Mutation SNP C C G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 14 64891602 64891602 C G SNP MTHFD1 ENST00000216605 human ensembl 69_37n +1 known missense c.976 p.P326A 1.000 pfam_THF_DH/CycHdrlase_NAD-bd_dom,prints_THF_DH/CycHdrlase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC ENSG00000100714 226 0 0.00 134 66 33.00 - - - MUSK 0 genome.wustl.edu 37 9 113550132 113550132 + Missense_Mutation SNP A A C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 9 113550132 113550132 A C SNP MUSK ENST00000374438 human ensembl 69_37n +1 known missense c.489 p.Q163H 0.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 80 0 0.00 97 16 14.16 - - - MYBPC2 0 genome.wustl.edu 37 19 50945455 50945455 + Missense_Mutation SNP G G C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 19 50945455 50945455 G C SNP MYBPC2 ENST00000357701 human ensembl 69_37n +1 known missense c.787 p.D263H 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 96 0 0.00 138 34 19.54 - - - MYO7B 0 genome.wustl.edu 37 2 128370129 128370129 + Nonsense_Mutation SNP G G T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 2 128370129 128370129 G T SNP MYO7B ENST00000389524 human ensembl 69_37n +1 known nonsense c.3271 p.E1091* 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 45 0 0.00 37 19 33.93 - - - NAV3 0 genome.wustl.edu 37 12 78592404 78592404 + Missense_Mutation SNP A A G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 12 78592404 78592404 A G SNP NAV3 ENST00000397909 human ensembl 69_37n +1 known missense c.6466 p.M2156V 1.000 smart_AAA+_ATPase pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 66 0 0.00 111 17 13.28 - - - NBN 0 genome.wustl.edu 37 8 90983465 90983465 + Missense_Mutation SNP G G A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 8 90983465 90983465 G A SNP NBN ENST00000265433 human ensembl 69_37n -1 known missense c.638 p.S213L 0.805 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 106 1 0.93 319 64 16.67 - - - NIN 0 genome.wustl.edu 37 14 51206034 51206034 + Missense_Mutation SNP G G T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 14 51206034 51206034 G T SNP NIN ENST00000530997 human ensembl 69_37n -1 putative missense c.4091 p.P1364Q 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NIN HGNC ENSG00000100503 194 0 0.00 300 159 34.64 - - - OOEP 0 genome.wustl.edu 37 6 74079480 74079480 + Silent SNP C C A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 6 74079480 74079480 C A SNP OOEP ENST00000370359 human ensembl 69_37n -1 known silent c.36 p.R12 0.000 NULL NULL - no_errors OOEP HGNC ENSG00000203907 42 0 0.00 27 27 47.37 - - - P2RY10 0 genome.wustl.edu 37 X 78216327 78216327 + Missense_Mutation SNP G G T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 X 78216327 78216327 G T SNP P2RY10 ENST00000171757 human ensembl 69_37n +1 known missense c.310 p.A104S 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors P2RY10 HGNC ENSG00000078589 313 0 0.00 576 221 27.69 - - - PAN3 0 genome.wustl.edu 37 13 28794503 28794503 + Nonsense_Mutation SNP G G T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 13 28794503 28794503 G T SNP PAN3 ENST00000380958 human ensembl 69_37n +1 known nonsense c.988 p.G330* 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom - no_errors PAN3 HGNC ENSG00000152520 81 0 0.00 148 77 34.07 - - - PAPOLA 0 genome.wustl.edu 37 14 96968831 96968832 + Frame_Shift_Ins INS - - GG TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 14 96968831 96968832 - GG INS PAPOLA ENST00000553357 human ensembl 69_37n +1 known frame_shift_ins c.113_114 p.A39fs 0.996:0.994 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PAPOLA HGNC ENSG00000090060 65 0 0.00 13 2 13.33 - - - PIK3CA 0 genome.wustl.edu 37 3 178952084 178952084 + Missense_Mutation SNP C C T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 3 178952084 178952084 C T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3139 p.H1047Y 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 77 0 0.00 69 298 81.20 - - - PLCE1 0 genome.wustl.edu 37 10 96058145 96058146 + Frame_Shift_Ins INS - - AC TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 10 96058145 96058146 - AC INS PLCE1 ENST00000371380 human ensembl 69_37n +1 known frame_shift_ins c.5177_5178 p.G1727fs 1.000:0.997 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 114 0 0.00 84 13 13.40 - - - POP1 0 genome.wustl.edu 37 8 99170475 99170475 + Missense_Mutation SNP T T G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 8 99170475 99170475 T G SNP POP1 ENST00000349693 human ensembl 69_37n +1 known missense c.3051 p.F1017L 1.000 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 151 0 0.00 81 19 19.00 - - - PPOX 0 genome.wustl.edu 37 1 161140234 161140234 + Missense_Mutation SNP A A T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 1 161140234 161140234 A T SNP PPOX ENST00000539753 human ensembl 69_37n +1 known missense c.319 p.R107W 0.202 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase - no_errors PPOX HGNC ENSG00000143224 68 0 0.00 247 38 13.33 - - - PRB2 0 genome.wustl.edu 37 12 11546698 11546698 + Missense_Mutation SNP C C T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 12 11546698 11546698 C T SNP PRB2 ENST00000389362 human ensembl 69_37n -1 known missense c.314 p.G105E 0.000 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 301 0 0.00 1584 212 11.80 - - - RUFY3 0 genome.wustl.edu 37 4 71588300 71588300 + Missense_Mutation SNP C C G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 4 71588300 71588300 C G SNP RUFY3 ENST00000226328 human ensembl 69_37n +1 known missense c.10 p.L4V 1.000 NULL pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 248 0 0.00 483 80 14.18 - - - SCG5 0 genome.wustl.edu 37 15 32988745 32988745 + Silent SNP C C T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 15 32988745 32988745 C T SNP SCG5 ENST00000300175 human ensembl 69_37n +1 known silent c.574 p.L192 1.000 pfam_Secretogranin_V pfam_Secretogranin_V - no_errors SCG5 HGNC ENSG00000166922 100 0 0.00 89 53 37.32 - - - SFXN5 0 genome.wustl.edu 37 2 73172038 73172038 + RNA SNP C C A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 2 73172038 73172038 C A SNP SFXN5 ENST00000461352 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors SFXN5 HGNC ENSG00000144040 35 0 0.00 23 18 43.90 - - - SLC17A7 0 genome.wustl.edu 37 19 49935871 49935871 + Missense_Mutation SNP G G A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 19 49935871 49935871 G A SNP SLC17A7 ENST00000221485 human ensembl 69_37n -1 known missense c.1055 p.T352I 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 72 0 0.00 43 12 21.82 - - - SLC30A1 0 genome.wustl.edu 37 1 211749391 211749391 + Missense_Mutation SNP G G C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 1 211749391 211749391 G C SNP SLC30A1 ENST00000367001 human ensembl 69_37n -1 known missense c.863 p.P288R 0.242 pfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A1 HGNC ENSG00000170385 31 0 0.00 62 44 41.12 - - - SLC6A3 0 genome.wustl.edu 37 5 1441547 1441547 + Nonsense_Mutation SNP G G T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 5 1441547 1441547 G T SNP SLC6A3 ENST00000270349 human ensembl 69_37n -1 known nonsense c.345 p.Y115* 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 72 0 0.00 68 32 32.00 - - - SPATA5L1 0 genome.wustl.edu 37 15 45706785 45706785 + Missense_Mutation SNP T T G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 15 45706785 45706785 T G SNP SPATA5L1 ENST00000305560 human ensembl 69_37n +1 known missense c.1451 p.L484R 1.000 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors SPATA5L1 HGNC ENSG00000171763 117 0 0.00 84 37 30.58 - - - SYBU 0 genome.wustl.edu 37 8 110592199 110592199 + Missense_Mutation SNP G G C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 8 110592199 110592199 G C SNP SYBU ENST00000276646 human ensembl 69_37n -1 known missense c.563 p.S188W 0.453 NULL NULL - no_errors SYBU HGNC ENSG00000147642 155 0 0.00 185 86 31.73 - - - TACR1 0 genome.wustl.edu 37 2 75280768 75280768 + Silent SNP A A G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 2 75280768 75280768 A G SNP TACR1 ENST00000305249 human ensembl 69_37n -1 known silent c.699 p.S233 0.215 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_NK3_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt - no_errors TACR1 HGNC ENSG00000115353 197 1 0.51 154 96 38.40 - - - TGM4 0 genome.wustl.edu 37 3 44943399 44943399 + Missense_Mutation SNP C C T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 3 44943399 44943399 C T SNP TGM4 ENST00000296125 human ensembl 69_37n +1 known missense c.947 p.T316I 0.000 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC ENSG00000163810 109 0 0.00 32 50 60.98 - - - THBS3 0 genome.wustl.edu 37 1 155175935 155175935 + RNA SNP G G T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 1 155175935 155175935 G T SNP THBS3 ENST00000487250 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors THBS3 HGNC ENSG00000169231 45 0 0.00 64 9 12.33 - - - TMEM160 0 genome.wustl.edu 37 19 47549915 47549915 + Silent SNP G G A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 19 47549915 47549915 G A SNP TMEM160 ENST00000253047 human ensembl 69_37n -1 known silent c.237 p.L79 1.000 NULL NULL - no_errors TMEM160 HGNC ENSG00000130748 40 0 0.00 30 35 53.85 - - - TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 262 0 0.00 112 185 62.29 - - - TP53 0 genome.wustl.edu 37 17 7578226 7578226 + Missense_Mutation SNP T T C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 17 7578226 7578226 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.623 p.D208G 0.996 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 414 0 0.00 209 339 61.86 - - - TP53BP1 0 genome.wustl.edu 37 15 43701229 43701229 + Missense_Mutation SNP C C A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 15 43701229 43701229 C A SNP TP53BP1 ENST00000434595 human ensembl 69_37n -1 novel missense c.425 p.C142F 1.000 superfamily_BRCT_dom superfamily_BRCT_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TP53BP1 HGNC ENSG00000067369 316 0 0.00 112 223 66.57 - - - UBN2 0 genome.wustl.edu 37 7 138954156 138954156 + Nonsense_Mutation SNP C C A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 7 138954156 138954156 C A SNP UBN2 ENST00000483726 human ensembl 69_37n +1 putative nonsense c.789 p.Y263* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UBN2 HGNC ENSG00000157741 101 0 0.00 173 43 19.91 - - - UGT1A3 0 genome.wustl.edu 37 2 234638355 234638355 + Missense_Mutation SNP C C T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 2 234638355 234638355 C T SNP UGT1A3 ENST00000482026 human ensembl 69_37n +1 known missense c.583 p.P195S 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A3 HGNC ENSG00000243135 270 0 0.00 355 135 27.49 - - - UHRF2 0 genome.wustl.edu 37 9 6421074 6421074 + Missense_Mutation SNP G G C TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 9 6421074 6421074 G C SNP UHRF2 ENST00000276893 human ensembl 69_37n +1 known missense c.316 p.G106R 0.994 NULL pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ENSG00000147854 174 0 0.00 622 80 11.38 - - - VCX3B 0 genome.wustl.edu 37 X 8433540 8433540 + Missense_Mutation SNP G G A TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 X 8433540 8433540 G A SNP VCX3B ENST00000444481 human ensembl 69_37n +1 known missense c.49 p.A17T 0.000 NULL NULL - no_errors VCX3B HGNC ENSG00000205642 264 2 0.75 9 3 25.00 - - - WIPF1 0 genome.wustl.edu 37 2 175432743 175432743 + Silent SNP A A G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 2 175432743 175432743 A G SNP WIPF1 ENST00000272746 human ensembl 69_37n -1 known silent c.1188 p.P396 0.873 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 106 1 0.93 101 50 33.11 - - - WNT1 0 genome.wustl.edu 37 12 49374313 49374313 + Silent SNP C C T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 12 49374313 49374313 C T SNP WNT1 ENST00000293549 human ensembl 69_37n +1 known silent c.465 p.Y155 0.996 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1 - no_errors WNT1 HGNC ENSG00000125084 26 0 0.00 10 14 58.33 - - - ZKSCAN1 0 genome.wustl.edu 37 7 99621358 99621358 + Missense_Mutation SNP C C G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 7 99621358 99621358 C G SNP ZKSCAN1 ENST00000324306 human ensembl 69_37n +1 known missense c.229 p.L77V 0.992 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 231 0 0.00 82 55 40.15 - - - ZNF20 0 genome.wustl.edu 37 19 12246615 12246615 + Missense_Mutation SNP C C T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 19 12246615 12246615 C T SNP ZNF20 ENST00000334213 human ensembl 69_37n -1 known missense c.108 p.M36I 0.411 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF20 HGNC ENSG00000132010 110 0 0.00 160 167 51.07 - - - ZNF230 0 genome.wustl.edu 37 19 44514454 44514454 + Missense_Mutation SNP A A G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 19 44514454 44514454 A G SNP ZNF230 ENST00000429154 human ensembl 69_37n +1 known missense c.263 p.E88G 0.001 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 ZNF230 HGNC ENSG00000159882 105 0 0.00 104 22 17.46 - - - ZNRD1-AS1 0 genome.wustl.edu 37 6 29984337 29984338 + RNA INS - - G TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 6 29984337 29984338 - G INS ZNRD1-AS1 ENST00000444051 human ensembl 69_37n -1 known rna NULL NULL 0.129:0.122 - - - no_errors ZNRD1-AS1 HGNC ENSG00000204623 23 0 0.00 3 2 40.00 - - - ZP4 0 genome.wustl.edu 37 1 238053232 238053232 + Missense_Mutation SNP G G T TCGA-A2-A04T-01A-21W-A050-09 TCGA-A2-A04T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9ddc397-9cb7-4095-a7d2-1c1396891587 9482fe83-a4b1-424a-baf1-8b0f8e40c9b7 1 238053232 238053232 G T SNP ZP4 ENST00000366570 human ensembl 69_37n -1 known missense c.335 p.A112E 0.000 NULL pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP4 HGNC ENSG00000116996 129 1 0.77 468 53 10.17 - - -