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 AAAS 0 genome.wustl.edu 37 12 53702291 53702291 + Missense_Mutation SNP C C T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 12 53702291 53702291 C T SNP AAAS ENST00000209873 human ensembl 69_37n -1 known missense c.1109 p.G370E 1.000 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC ENSG00000094914 178 0 0.00 274 47 14.55 - - - ALPK1 0 genome.wustl.edu 37 4 113333139 113333139 + Missense_Mutation SNP C C T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 4 113333139 113333139 C T SNP ALPK1 ENST00000177648 human ensembl 69_37n +1 known missense c.433 p.P145S 1.000 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 103 0 0.00 110 40 26.67 - - - AP2A1 0 genome.wustl.edu 37 19 50295238 50295238 + Nonsense_Mutation SNP C C T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 19 50295238 50295238 C T SNP AP2A1 ENST00000359032 human ensembl 69_37n +1 known nonsense c.520 p.R174* 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 32 0 0.00 12 8 38.10 - - - ASB17 0 genome.wustl.edu 37 1 76387978 76387978 + Silent SNP C C T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 1 76387978 76387978 C T SNP ASB17 ENST00000284142 human ensembl 69_37n -1 known silent c.468 p.Q156 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C - no_errors ASB17 HGNC ENSG00000154007 87 0 0.00 28 34 54.84 - - - ASXL3 0 genome.wustl.edu 37 18 31325065 31325065 + Silent SNP G G C TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 18 31325065 31325065 G C SNP ASXL3 ENST00000269197 human ensembl 69_37n +1 known silent c.5253 p.T1751 0.846 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 80 0 0.00 63 10 13.70 - - - ATXN2L 0 genome.wustl.edu 37 16 28842013 28842013 + Missense_Mutation SNP G G A TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 16 28842013 28842013 G A SNP ATXN2L ENST00000395547 human ensembl 69_37n +1 known missense c.1112 p.G371D 0.991 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 50 0 0.00 30 14 31.82 - - - CACNA1G 0 genome.wustl.edu 37 17 48694930 48694930 + Missense_Mutation SNP G G A TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 17 48694930 48694930 G A SNP CACNA1G ENST00000359106 human ensembl 69_37n +1 known missense c.5153 p.R1718Q 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 29 0 0.00 37 21 36.21 - - - CNDP1 0 genome.wustl.edu 37 18 72244205 72244205 + Missense_Mutation SNP C C G TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 18 72244205 72244205 C G SNP CNDP1 ENST00000358821 human ensembl 69_37n +1 known missense c.943 p.L315V 0.653 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP1 HGNC ENSG00000150656 276 1 0.36 138 21 13.21 - - - CPT1A 0 genome.wustl.edu 37 11 68530198 68530199 + Frame_Shift_Del DEL GC GC - TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 11 68530198 68530199 GC - DEL CPT1A ENST00000265641 human ensembl 69_37n -1 known frame_shift_del c.1772_1771 p.A591fs 1.000:1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 49 0 0.00 71 48 40.00 - - - CRYBB1 0 genome.wustl.edu 37 22 27008076 27008076 + Missense_Mutation SNP C C A TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 22 27008076 27008076 C A SNP CRYBB1 ENST00000215939 human ensembl 69_37n -1 known missense c.259 p.G87C 0.997 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB1 HGNC ENSG00000100122 230 0 0.00 160 39 19.60 - - - CRYBB1 0 genome.wustl.edu 37 22 27008077 27008077 + Silent SNP A A G TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 22 27008077 27008077 A G SNP CRYBB1 ENST00000215939 human ensembl 69_37n -1 known silent c.258 p.R86 0.339 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB1 HGNC ENSG00000100122 227 0 0.00 161 38 19.10 - - - EGFLAM 0 genome.wustl.edu 37 5 38407032 38407032 + Missense_Mutation SNP C C G TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 5 38407032 38407032 C G SNP EGFLAM ENST00000354891 human ensembl 69_37n +1 known missense c.931 p.P311A 0.002 NULL pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 127 0 0.00 136 28 17.07 - - - ERCC5 0 genome.wustl.edu 37 13 103504559 103504559 + Missense_Mutation SNP T T G TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 13 103504559 103504559 T G SNP ERCC5 ENST00000355739 human ensembl 69_37n +1 known missense c.180 p.H60Q 1.000 pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N,prints_XPGC_DNA_repair,tigrfam_XPGC_DNA_repair pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair - no_errors ERCC5 HGNC ENSG00000134899 259 0 0.00 123 42 25.30 - - - ESRRG 0 genome.wustl.edu 37 1 216737742 216737742 + Silent SNP C C T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 1 216737742 216737742 C T SNP ESRRG ENST00000391890 human ensembl 69_37n -1 known silent c.633 p.L211 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 97 0 0.00 81 40 33.06 - - - FAM171A1 0 genome.wustl.edu 37 10 15256542 15256543 + Frame_Shift_Ins INS - - TG TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 10 15256542 15256543 - TG INS FAM171A1 ENST00000378116 human ensembl 69_37n -1 known frame_shift_ins c.1045_1044 p.E348fs 0.999:0.486 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 59 0 0.00 54 59 52.21 - - - FAT2 0 genome.wustl.edu 37 5 150947878 150947878 + Silent SNP C C T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 5 150947878 150947878 C T SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known silent c.615 p.V205 0.622 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 79 0 0.00 72 25 25.77 - - - FBXO8 0 genome.wustl.edu 37 4 175184103 175184103 + Silent SNP G G T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 4 175184103 175184103 G T SNP FBXO8 ENST00000393674 human ensembl 69_37n -1 known silent c.141 p.V47 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_F-box_dom_cyclin-like,smart_Sec7,pfscan_F-box_dom_cyclin-like,pfscan_Sec7 - no_errors FBXO8 HGNC ENSG00000164117 214 0 0.00 138 64 31.68 - - - FRG1B 0 genome.wustl.edu 37 20 29612363 29612363 + RNA SNP G G C TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 20 29612363 29612363 G C SNP FRG1B ENST00000482423 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FRG1B HGNC ENSG00000149531 12 0 0.00 4 4 50.00 - - - GADL1 0 genome.wustl.edu 37 3 30769808 30769808 + Missense_Mutation SNP T T A TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 3 30769808 30769808 T A SNP GADL1 ENST00000282538 human ensembl 69_37n -1 known missense c.1492 p.I498F 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GADL1 HGNC ENSG00000144644 142 0 0.00 74 41 35.34 - - - HELZ 0 genome.wustl.edu 37 17 65074482 65074482 + Silent SNP C C T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 17 65074482 65074482 C T SNP HELZ ENST00000358691 human ensembl 69_37n -1 known silent c.5715 p.K1905 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 102 1 0.96 143 19 11.59 - - - HKDC1 0 genome.wustl.edu 37 10 70992551 70992552 + Frame_Shift_Ins INS - - G TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 10 70992551 70992552 - G INS HKDC1 ENST00000354624 human ensembl 69_37n +1 known frame_shift_ins c.258_259 p.S87fs 0.996:1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 80 0 0.00 40 7 14.89 - - - HMCN1 0 genome.wustl.edu 37 1 185964013 185964013 + Missense_Mutation SNP C C T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 1 185964013 185964013 C T SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.3572 p.P1191L 0.970 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 117 0 0.00 99 13 11.61 - - - HMCN1 0 genome.wustl.edu 37 1 185985185 185985185 + Missense_Mutation SNP C C A TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 1 185985185 185985185 C A SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.5005 p.P1669T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 123 0 0.00 125 15 10.71 - - - IDI1 0 genome.wustl.edu 37 10 1087317 1087317 + Missense_Mutation SNP G G T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 10 1087317 1087317 G T SNP IDI1 ENST00000381344 human ensembl 69_37n -1 known missense c.665 p.P222H 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI1 HGNC ENSG00000067064 147 0 0.00 88 19 17.76 - - - LRPPRC 0 genome.wustl.edu 37 2 44176743 44176743 + Missense_Mutation SNP G G A TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 2 44176743 44176743 G A SNP LRPPRC ENST00000260665 human ensembl 69_37n -1 known missense c.1733 p.T578M 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 68 0 0.00 56 8 12.50 - - - LRRC16B 0 genome.wustl.edu 37 14 24525586 24525586 + Silent SNP C C T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 14 24525586 24525586 C T SNP LRRC16B ENST00000342740 human ensembl 69_37n +1 known silent c.849 p.N283 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 21 0 0.00 10 7 41.18 - - - MACF1 0 genome.wustl.edu 37 1 39888058 39888058 + Missense_Mutation SNP G G C TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 1 39888058 39888058 G C SNP MACF1 ENST00000317713 human ensembl 69_37n +1 known missense c.9643 p.E3215Q 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 148 0 0.00 117 19 13.87 - - - MAN2A2 0 genome.wustl.edu 37 15 91455336 91455338 + In_Frame_Del DEL GAT GAT - TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 15 91455336 91455338 GAT - DEL MAN2A2 ENST00000360468 human ensembl 69_37n +1 known in_frame_del c.2173_2175 p.D725in_frame_del 0.996:0.984:0.002 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 18 0 0.00 24 30 55.56 - - - MAN2A2 0 genome.wustl.edu 37 15 91455349 91455349 + Frame_Shift_Del DEL C C - TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 15 91455349 91455349 C - DEL MAN2A2 ENST00000360468 human ensembl 69_37n +1 known frame_shift_del c.2186 p.T729fs 0.757 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 21 0 0.00 25 30 54.55 - - - MCRS1 0 genome.wustl.edu 37 12 49956786 49956786 + Missense_Mutation SNP G G C TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 12 49956786 49956786 G C SNP MCRS1 ENST00000357123 human ensembl 69_37n -1 known missense c.842 p.T281R 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 14 0 0.00 18 8 30.77 - - - MYH7 0 genome.wustl.edu 37 14 23886884 23886884 + Missense_Mutation SNP G G A TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 14 23886884 23886884 G A SNP MYH7 ENST00000355349 human ensembl 69_37n -1 known missense c.4181 p.A1394V 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 36 0 0.00 28 31 52.54 - - - MYT1L 0 genome.wustl.edu 37 2 1812867 1812867 + Silent SNP G G A TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 2 1812867 1812867 G A SNP MYT1L ENST00000399161 human ensembl 69_37n -1 known silent c.3153 p.I1051 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 65 0 0.00 72 16 17.98 - - - NBR1 0 genome.wustl.edu 37 17 41355736 41355737 + Frame_Shift_Ins INS - - G TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 17 41355736 41355737 - G INS NBR1 ENST00000341165 human ensembl 69_37n +1 known frame_shift_ins c.2660_2661 p.A889fs 1.000:0.968 NULL pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors NBR1 HGNC ENSG00000188554 12 0 0.00 8 2 20.00 - - - NUP210L 0 genome.wustl.edu 37 1 153991518 153991518 + Missense_Mutation SNP G G C TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 1 153991518 153991518 G C SNP NUP210L ENST00000368559 human ensembl 69_37n -1 known missense c.4544 p.A1515G 0.049 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 127 0 0.00 106 17 13.82 - - - PCDH10 0 genome.wustl.edu 37 4 134072575 134072575 + Frame_Shift_Del DEL A A - TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 4 134072575 134072575 A - DEL PCDH10 ENST00000264360 human ensembl 69_37n +1 known frame_shift_del c.1280 p.D427fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 111 0 0.00 114 16 11.11 - - - PCDHB6 0 genome.wustl.edu 37 5 140530844 140530844 + Missense_Mutation SNP C C G TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 5 140530844 140530844 C G SNP PCDHB6 ENST00000231136 human ensembl 69_37n +1 known missense c.1006 p.L336V 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 215 0 0.00 150 43 22.16 - - - PCDHGB4 0 genome.wustl.edu 37 5 140769020 140769020 + Silent SNP G G T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 5 140769020 140769020 G T SNP PCDHGB4 ENST00000519479 human ensembl 69_37n +1 known silent c.1569 p.L523 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 44 0 0.00 55 11 16.67 - - - PLA2R1 0 genome.wustl.edu 37 2 160885378 160885378 + Missense_Mutation SNP T T C TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 2 160885378 160885378 T C SNP PLA2R1 ENST00000283243 human ensembl 69_37n -1 known missense c.938 p.Y313C 0.016 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 65 0 0.00 51 8 13.56 - - - PPEF1 0 genome.wustl.edu 37 X 18822016 18822016 + Missense_Mutation SNP G G C TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec X 18822016 18822016 G C SNP PPEF1 ENST00000361511 human ensembl 69_37n +1 known missense c.1072 p.D358H 0.958 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 231 0 0.00 116 23 16.55 - - - PRKCQ 0 genome.wustl.edu 37 10 6472861 6472861 + Missense_Mutation SNP C C T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 10 6472861 6472861 C T SNP PRKCQ ENST00000263125 human ensembl 69_37n -1 known missense c.1876 p.G626R 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 87 0 0.00 49 15 23.44 - - - PRMT5 0 genome.wustl.edu 37 14 23391766 23391766 + Missense_Mutation SNP G G A TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 14 23391766 23391766 G A SNP PRMT5 ENST00000324366 human ensembl 69_37n -1 known missense c.1582 p.P528S 1.000 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 442 0 0.00 277 48 14.77 - - - ROBO2 0 genome.wustl.edu 37 3 77571962 77571962 + Silent SNP A A G TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 3 77571962 77571962 A G SNP ROBO2 ENST00000461745 human ensembl 69_37n +1 known silent c.843 p.K281 0.935 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO2 HGNC ENSG00000185008 342 0 0.00 148 55 26.96 - - - RPGR 0 genome.wustl.edu 37 X 38160625 38160625 + Splice_Site SNP C C A TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec X 38160625 38160625 C A SNP RPGR ENST00000378505 human ensembl 69_37n -1 known splice_site c.935-1 e9-1 1.000 - - - no_errors RPGR HGNC ENSG00000156313 85 0 0.00 55 7 11.29 - - - RXRB 0 genome.wustl.edu 37 6 33166204 33166204 + Frame_Shift_Del DEL C C - TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 6 33166204 33166204 C - DEL RXRB ENST00000374680 human ensembl 69_37n -1 known frame_shift_del c.521 p.G174fs 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors RXRB HGNC ENSG00000204231 92 0 0.00 67 22 24.18 - - - SART1 0 genome.wustl.edu 37 11 65746162 65746162 + Splice_Site DEL T T - TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 11 65746162 65746162 T - DEL SART1 ENST00000312397 human ensembl 69_37n +1 known splice_site_del c.2262+2 e18+2 1.000 - - - no_errors SART1 HGNC ENSG00000175467 13 0 0.00 13 8 33.33 - - - SEMA5A 0 genome.wustl.edu 37 5 9154711 9154711 + Missense_Mutation SNP T T A TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 5 9154711 9154711 T A SNP SEMA5A ENST00000382496 human ensembl 69_37n -1 known missense c.1370 p.E457V 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 78 0 0.00 111 21 15.79 - - - SSRP1 0 genome.wustl.edu 37 11 57102000 57102000 + Silent SNP G G A TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 11 57102000 57102000 G A SNP SSRP1 ENST00000278412 human ensembl 69_37n -1 known silent c.177 p.G59 0.993 NULL pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition - no_errors SSRP1 HGNC ENSG00000149136 129 0 0.00 112 23 17.04 - - - ST18 0 genome.wustl.edu 37 8 53030972 53030972 + Missense_Mutation SNP A A T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 8 53030972 53030972 A T SNP ST18 ENST00000276480 human ensembl 69_37n -1 known missense c.2785 p.L929M 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 114 0 0.00 101 12 10.53 - - - TCP11 0 genome.wustl.edu 37 6 35108559 35108560 + Frame_Shift_Ins INS - - G TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 6 35108559 35108560 - G INS TCP11 ENST00000311875 human ensembl 69_37n -1 known frame_shift_ins c.128_127 p.Q43fs 0.000:0.004 NULL pfam_Tcp11 - no_errors TCP11 HGNC ENSG00000124678 18 0 0.00 10 3 23.08 - - - TLR7 0 genome.wustl.edu 37 X 12905642 12905642 + Missense_Mutation SNP G G A TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec X 12905642 12905642 G A SNP TLR7 ENST00000380659 human ensembl 69_37n +1 known missense c.2015 p.G672D 0.528 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 498 1 0.20 181 116 38.80 - - - TNIK 0 genome.wustl.edu 37 3 170819279 170819279 + Silent SNP G G T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 3 170819279 170819279 G T SNP TNIK ENST00000436636 human ensembl 69_37n -1 known silent c.2550 p.T850 0.940 NULL 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 TNIK HGNC ENSG00000154310 434 0 0.00 369 85 18.64 - - - TP53 0 genome.wustl.edu 37 17 7578525 7578525 + Missense_Mutation SNP G G C TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 17 7578525 7578525 G C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.405 p.C135W 1.000 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 83 0 0.00 24 53 68.83 - - - TTC5 0 genome.wustl.edu 37 14 20764583 20764583 + Missense_Mutation SNP G G C TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 14 20764583 20764583 G C SNP TTC5 ENST00000258821 human ensembl 69_37n -1 known missense c.662 p.S221C 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC5 HGNC ENSG00000136319 319 0 0.00 117 46 28.22 - - - UACA 0 genome.wustl.edu 37 15 70949465 70949465 + Missense_Mutation SNP C C A TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 15 70949465 70949465 C A SNP UACA ENST00000322954 human ensembl 69_37n -1 known missense c.4181 p.G1394V 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 154 0 0.00 60 15 20.00 - - - UNC5D 0 genome.wustl.edu 37 8 35563480 35563480 + Splice_Site SNP G G T TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 8 35563480 35563480 G T SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known splice_site c.1117+1 e8+1 1.000 - - - no_errors UNC5D HGNC ENSG00000156687 62 0 0.00 51 44 46.32 - - - USH2A 0 genome.wustl.edu 37 1 216390881 216390881 + Missense_Mutation SNP C C G TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 1 216390881 216390881 C G SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.3005 p.C1002S 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 101 1 0.98 95 14 12.84 - - - ZNF320 0 genome.wustl.edu 37 19 53384808 53384808 + Missense_Mutation SNP A A G TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 19 53384808 53384808 A G SNP ZNF320 ENST00000391781 human ensembl 69_37n -1 known missense c.571 p.C191R 0.802 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF320 HGNC ENSG00000182986 300 0 0.00 287 60 17.29 - - - ZNF540 0 genome.wustl.edu 37 19 38103478 38103478 + Missense_Mutation SNP C C A TCGA-BH-A0HX-01A-21W-A071-09 TCGA-BH-A0HX-10A-02W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 27df78cd-1f39-42f3-92e6-56664d4c472c ec32084a-c085-4ef6-b50e-212ae61944ec 19 38103478 38103478 C A SNP ZNF540 ENST00000316433 human ensembl 69_37n +1 known missense c.1297 p.H433N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF540 HGNC ENSG00000171817 184 0 0.00 82 80 49.38 - - -