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 ACAN 0 genome.wustl.edu 37 15 89416111 89416111 + Splice_Site SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 15 89416111 89416111 G C SNP ACAN ENST00000439576 human ensembl 69_37n +1 known splice_site c.7189-1 e15-1 1.000 - - - no_errors ACAN HGNC ENSG00000157766 21 0 0.00 13 11 45.83 - - - ACTR1A 0 genome.wustl.edu 37 10 104239003 104239003 + RNA SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 10 104239003 104239003 C T SNP ACTR1A ENST00000470322 human ensembl 69_37n -1 known rna NULL NULL 0.994 - - - no_errors ACTR1A HGNC ENSG00000138107 21 0 0.00 15 4 21.05 - - - ADAM15 0 genome.wustl.edu 37 1 155028475 155028475 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 155028475 155028475 C T SNP ADAM15 ENST00000356955 human ensembl 69_37n +1 known missense c.743 p.T248I 0.986 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 56 0 0.00 83 39 31.97 - - - ADAMTSL4 0 genome.wustl.edu 37 1 150528007 150528007 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 150528007 150528007 G A SNP ADAMTSL4 ENST00000369039 human ensembl 69_37n +1 known missense c.1406 p.G469E 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 29 0 0.00 33 22 40.00 - - - AHI1 0 genome.wustl.edu 37 6 135611584 135611584 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 6 135611584 135611584 C G SNP AHI1 ENST00000265602 human ensembl 69_37n -1 known missense c.3565 p.G1189R 0.000 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 152 0 0.00 140 91 39.39 - - - AKAP1 0 genome.wustl.edu 37 17 55183771 55183771 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 17 55183771 55183771 G A SNP AKAP1 ENST00000337714 human ensembl 69_37n +1 known missense c.946 p.G316S 0.000 NULL pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors AKAP1 HGNC ENSG00000121057 26 0 0.00 35 6 14.63 - - - ALS2CR11 0 genome.wustl.edu 37 2 202483806 202483806 + Silent SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 202483806 202483806 G A SNP ALS2CR11 ENST00000286195 human ensembl 69_37n -1 known silent c.48 p.N16 0.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC ENSG00000155754 112 0 0.00 126 72 36.36 - - - AMBN 0 genome.wustl.edu 37 4 71472137 71472137 + Missense_Mutation SNP T T C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 4 71472137 71472137 T C SNP AMBN ENST00000322937 human ensembl 69_37n +1 known missense c.1034 p.L345P 0.000 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 31 0 0.00 24 5 17.24 - - - AMZ1 0 genome.wustl.edu 37 7 2748833 2748833 + Silent SNP C C A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 7 2748833 2748833 C A SNP AMZ1 ENST00000312371 human ensembl 69_37n +1 known silent c.726 p.G242 0.004 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ1 HGNC ENSG00000174945 21 0 0.00 12 6 33.33 - - - ANKRD17 0 genome.wustl.edu 37 4 73962844 73962844 + Missense_Mutation SNP C C A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 4 73962844 73962844 C A SNP ANKRD17 ENST00000358602 human ensembl 69_37n -1 known missense c.5167 p.V1723F 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 94 0 0.00 130 26 16.67 - - - ANKRD20A8P 0 genome.wustl.edu 37 2 95513888 95513888 + RNA SNP A A T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 95513888 95513888 A T SNP ANKRD20A8P ENST00000432432 human ensembl 69_37n -1 known rna NULL NULL 0.785 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 274 0 0.00 288 116 28.71 - - - ANKRD30A 0 genome.wustl.edu 37 10 37508106 37508106 + Missense_Mutation SNP T T C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 10 37508106 37508106 T C SNP ANKRD30A ENST00000361713 human ensembl 69_37n +1 known missense c.3298 p.S1100P 0.133 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 47 0 0.00 60 24 28.57 - - - ANO3 0 genome.wustl.edu 37 11 26660720 26660720 + Silent SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 11 26660720 26660720 C G SNP ANO3 ENST00000256737 human ensembl 69_37n +1 known silent c.2073 p.L691 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 78 0 0.00 69 55 44.35 - - - ARHGEF4 0 genome.wustl.edu 37 2 131673316 131673316 + Silent SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 131673316 131673316 C T SNP ARHGEF4 ENST00000409359 human ensembl 69_37n +1 putative silent c.807 p.P269 0.000 NULL NULL - no_errors ARHGEF4 HGNC ENSG00000136002 39 0 0.00 42 5 10.64 - - - ATPIF1 0 genome.wustl.edu 37 1 28562699 28562699 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 28562699 28562699 C G SNP ATPIF1 ENST00000335514 human ensembl 69_37n +1 known missense c.5 p.A2G 0.979 NULL pfam_ATPase_inhibitor_IATP_mt - no_errors ATPIF1 HGNC ENSG00000130770 166 0 0.00 179 29 13.94 - - - BCAR1 0 genome.wustl.edu 37 16 75263783 75263783 + Missense_Mutation SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 16 75263783 75263783 A G SNP BCAR1 ENST00000418647 human ensembl 69_37n -1 known missense c.2377 p.Y793H 1.000 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 100 0 0.00 86 38 30.65 - - - BDP1 0 genome.wustl.edu 37 5 70754468 70754468 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 5 70754468 70754468 C T SNP BDP1 ENST00000358731 human ensembl 69_37n +1 known missense c.275 p.S92L 0.897 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 63 0 0.00 49 8 14.04 - - - BEAN1 0 genome.wustl.edu 37 16 66526997 66526997 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 16 66526997 66526997 G C SNP BEAN1 ENST00000561796 human ensembl 69_37n +1 novel missense c.280 p.E94Q 0.098 NULL NULL - no_errors BEAN1 HGNC ENSG00000166546 86 0 0.00 129 16 11.03 - - - BRWD1 0 genome.wustl.edu 37 21 40590186 40590186 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 21 40590186 40590186 G C SNP BRWD1 ENST00000333229 human ensembl 69_37n -1 known missense c.3551 p.A1184G 0.999 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BRWD1 HGNC ENSG00000185658 55 0 0.00 102 13 11.21 - - - C16orf46 0 genome.wustl.edu 37 16 81095551 81095551 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 16 81095551 81095551 C T SNP C16orf46 ENST00000299578 human ensembl 69_37n -1 known missense c.403 p.A135T 0.002 NULL NULL - no_errors C16orf46 HGNC ENSG00000166455 38 0 0.00 53 15 22.06 - - - C16orf7 0 genome.wustl.edu 37 16 89776248 89776248 + Missense_Mutation SNP C C A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 16 89776248 89776248 C A SNP C16orf7 ENST00000389386 human ensembl 69_37n -1 known missense c.1325 p.C442F 1.000 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors C16orf7 HGNC ENSG00000075399 64 0 0.00 61 20 24.69 - - - C6orf118 0 genome.wustl.edu 37 6 165693507 165693507 + RNA SNP T T A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 6 165693507 165693507 T A SNP C6orf118 ENST00000494696 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors C6orf118 HGNC ENSG00000112539 42 0 0.00 55 11 16.42 - - - C8orf48 0 genome.wustl.edu 37 8 13424528 13424528 + Missense_Mutation SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 8 13424528 13424528 A G SNP C8orf48 ENST00000297324 human ensembl 69_37n +1 known missense c.28 p.T10A 0.000 NULL NULL - no_errors C8orf48 HGNC ENSG00000164743 52 0 0.00 30 14 31.82 - - - C9orf131 0 genome.wustl.edu 37 9 35044014 35044014 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 9 35044014 35044014 G C SNP C9orf131 ENST00000312292 human ensembl 69_37n +1 known missense c.1388 p.W463S 0.001 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 24 0 0.00 26 8 23.53 - - - CALML6 0 genome.wustl.edu 37 1 1848258 1848258 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 1848258 1848258 C G SNP CALML6 ENST00000307786 human ensembl 69_37n +1 known missense c.321 p.N107K 0.991 pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALML6 HGNC ENSG00000169885 39 0 0.00 62 9 12.68 - - - CAMK2A 0 genome.wustl.edu 37 5 149669201 149669201 + RNA SNP C C A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 5 149669201 149669201 C A SNP CAMK2A ENST00000507995 human ensembl 69_37n -1 known rna NULL NULL 0.010 - - - no_errors CAMK2A HGNC ENSG00000070808 90 0 0.00 100 42 29.58 - - - CCDC121 0 genome.wustl.edu 37 2 27850034 27850034 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 27850034 27850034 C G SNP CCDC121 ENST00000394775 human ensembl 69_37n -1 known missense c.1119 p.E373D 0.000 NULL NULL - no_errors CCDC121 HGNC ENSG00000176714 83 0 0.00 96 57 37.25 - - - CCDC141 0 genome.wustl.edu 37 2 179718298 179718298 + Silent SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 179718298 179718298 A G SNP CCDC141 ENST00000420890 human ensembl 69_37n -1 known silent c.3114 p.Y1038 1.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC ENSG00000163492 82 0 0.00 89 28 23.93 - - - CCDC146 0 genome.wustl.edu 37 7 76909802 76909802 + Missense_Mutation SNP T T C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 7 76909802 76909802 T C SNP CCDC146 ENST00000285871 human ensembl 69_37n +1 known missense c.1751 p.M584T 1.000 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 34 0 0.00 22 13 37.14 - - - CCDC17 0 genome.wustl.edu 37 1 46087625 46087625 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 46087625 46087625 G A SNP CCDC17 ENST00000343901 human ensembl 69_37n -1 known missense c.914 p.P305L 0.000 NULL NULL - no_errors CCDC17 HGNC ENSG00000159588 61 0 0.00 68 25 26.60 - - - CCDC27 0 genome.wustl.edu 37 1 3683150 3683150 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 3683150 3683150 G A SNP CCDC27 ENST00000294600 human ensembl 69_37n +1 known missense c.1504 p.E502K 0.975 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 43 0 0.00 24 37 60.66 - - - CCDC30 0 genome.wustl.edu 37 1 43042704 43042704 + Missense_Mutation SNP T T G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 43042704 43042704 T G SNP CCDC30 ENST00000340612 human ensembl 69_37n +1 known missense c.869 p.L290R 1.000 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 31 0 0.00 42 7 14.29 - - - CCNB3 0 genome.wustl.edu 37 X 50053904 50053904 + Missense_Mutation SNP A A C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 X 50053904 50053904 A C SNP CCNB3 ENST00000276014 human ensembl 69_37n +1 known missense c.2735 p.K912T 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 30 0 0.00 26 18 40.91 - - - CCNF 0 genome.wustl.edu 37 16 2499874 2499874 + Missense_Mutation SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 16 2499874 2499874 A G SNP CCNF ENST00000397066 human ensembl 69_37n +1 known missense c.1445 p.Y482C 0.023 pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors CCNF HGNC ENSG00000162063 47 0 0.00 62 12 16.22 - - - CDC25C 0 genome.wustl.edu 37 5 137654919 137654919 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 5 137654919 137654919 G C SNP CDC25C ENST00000323760 human ensembl 69_37n -1 known missense c.604 p.Q202E 1.000 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25C HGNC ENSG00000158402 90 0 0.00 123 45 26.79 - - - CFP 0 genome.wustl.edu 37 X 47485563 47485563 + Nonsense_Mutation SNP C C A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 X 47485563 47485563 C A SNP CFP ENST00000247153 human ensembl 69_37n -1 known nonsense c.1138 p.G380* 0.997 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 69 0 0.00 52 13 20.00 - - - CHD2 0 genome.wustl.edu 37 15 93524061 93524061 + Missense_Mutation SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 15 93524061 93524061 A G SNP CHD2 ENST00000557381 human ensembl 69_37n +1 putative missense c.2893 p.K965E 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 27 0 0.00 58 16 21.62 - - - CHL1 0 genome.wustl.edu 37 3 402080 402080 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 3 402080 402080 C T SNP CHL1 ENST00000256509 human ensembl 69_37n +1 known missense c.1279 p.L427F 0.995 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like 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 CHL1 HGNC ENSG00000134121 98 0 0.00 138 29 17.37 - - - CHST2 0 genome.wustl.edu 37 3 142840143 142840143 + Missense_Mutation SNP A A T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 3 142840143 142840143 A T SNP CHST2 ENST00000309575 human ensembl 69_37n +1 known missense c.485 p.D162V 0.827 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 40 0 0.00 42 20 32.26 - - - CHST2 0 genome.wustl.edu 37 3 142840144 142840144 + Missense_Mutation SNP C C A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 3 142840144 142840144 C A SNP CHST2 ENST00000309575 human ensembl 69_37n +1 known missense c.486 p.D162E 0.929 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 40 0 0.00 41 19 31.67 - - - CIITA 0 genome.wustl.edu 37 16 10997664 10997664 + Silent SNP G G T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 16 10997664 10997664 G T SNP CIITA ENST00000324288 human ensembl 69_37n +1 known silent c.849 p.R283 0.673 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 55 0 0.00 64 17 20.99 - - - COL12A1 0 genome.wustl.edu 37 6 75833729 75833729 + Missense_Mutation SNP C C A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 6 75833729 75833729 C A SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known missense c.6806 p.G2269V 0.008 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 82 0 0.00 78 31 28.44 - - - COL14A1 0 genome.wustl.edu 37 8 121379445 121379445 + Missense_Mutation SNP G G T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 8 121379445 121379445 G T SNP COL14A1 ENST00000297848 human ensembl 69_37n +1 known missense c.5113 p.G1705C 1.000 pfam_Collagen pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 19 0 0.00 26 18 40.91 - - - COL4A6 0 genome.wustl.edu 37 X 107420161 107420161 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 X 107420161 107420161 C G SNP COL4A6 ENST00000372216 human ensembl 69_37n -1 known missense c.2599 p.G867R 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 97 0 0.00 77 11 12.50 - - - CPA2 0 genome.wustl.edu 37 7 129913559 129913559 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 7 129913559 129913559 G C SNP CPA2 ENST00000416698 human ensembl 69_37n +1 known missense c.494 p.R165P 0.001 pfam_Peptidase_M14 pfam_Prot_inh_M14A,pfam_Peptidase_M14,superfamily_Prot_inh_propept - no_errors CPA2 HGNC ENSG00000158516 22 0 0.00 17 9 34.62 - - - DCAF10 0 genome.wustl.edu 37 9 37854783 37854784 + Frame_Shift_Ins INS - - T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 9 37854783 37854784 - T INS DCAF10 ENST00000377724 human ensembl 69_37n +1 known frame_shift_ins c.858_859 p.E286fs 1.000:1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF10 HGNC ENSG00000122741 43 0 0.00 46 10 17.86 - - - DCAF10 0 genome.wustl.edu 37 9 37854784 37854785 + Frame_Shift_Ins INS - - GT TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 9 37854784 37854785 - GT INS DCAF10 ENST00000377724 human ensembl 69_37n +1 known frame_shift_ins c.859_860 p.E287fs 1.000:1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF10 HGNC ENSG00000122741 44 0 0.00 45 10 18.18 - - - DCAF10 0 genome.wustl.edu 37 9 37854785 37854786 + Frame_Shift_Ins INS - - T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 9 37854785 37854786 - T INS DCAF10 ENST00000377724 human ensembl 69_37n +1 known frame_shift_ins c.860_861 p.E287fs 1.000:1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF10 HGNC ENSG00000122741 45 0 0.00 45 10 18.18 - - - DCAF12 0 genome.wustl.edu 37 9 34125207 34125207 + Silent SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 9 34125207 34125207 G A SNP DCAF12 ENST00000361264 human ensembl 69_37n -1 known silent c.147 p.Y49 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12 HGNC ENSG00000198876 48 0 0.00 48 33 40.74 - - - DENND2C 0 genome.wustl.edu 37 1 115127989 115127989 + RNA DEL A A - TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 115127989 115127989 A - DEL DENND2C ENST00000495031 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors DENND2C HGNC ENSG00000175984 12 0 0.00 18 3 14.29 - - - DNAH10 0 genome.wustl.edu 37 12 124332600 124332600 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 12 124332600 124332600 G C SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.5553 p.L1851F 1.000 smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 56 0 0.00 43 45 51.14 - - - DNAH17 0 genome.wustl.edu 37 17 76445507 76445507 + Missense_Mutation SNP C C A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 17 76445507 76445507 C A SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known missense c.11158 p.V3720F 0.998 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 58 0 0.00 38 36 48.65 - - - DQX1 0 genome.wustl.edu 37 2 74751035 74751035 + RNA SNP T T C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 74751035 74751035 T C SNP DQX1 ENST00000495597 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors DQX1 HGNC ENSG00000144045 27 0 0.00 38 15 28.30 - - - DTWD1 0 genome.wustl.edu 37 15 49917567 49917567 + Missense_Mutation SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 15 49917567 49917567 A G SNP DTWD1 ENST00000251250 human ensembl 69_37n +1 known missense c.203 p.Y68C 1.000 pfam_DTW pfam_DTW - no_errors DTWD1 HGNC ENSG00000104047 103 0 0.00 135 21 13.46 - - - DYNC2LI1 0 genome.wustl.edu 37 2 44023934 44023934 + Missense_Mutation SNP G G T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 44023934 44023934 G T SNP DYNC2LI1 ENST00000260605 human ensembl 69_37n +1 known missense c.654 p.M218I 1.000 NULL pfam_Dynein_light_int_chain - no_errors DYNC2LI1 HGNC ENSG00000138036 44 0 0.00 108 14 11.48 - - - EBF1 0 genome.wustl.edu 37 5 158140136 158140136 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 5 158140136 158140136 G A SNP EBF1 ENST00000313708 human ensembl 69_37n -1 known missense c.1211 p.A404V 1.000 superfamily_HLH_DNA-bd pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_HLH_DNA-bd,smart_IPT_TIG_rcpt - no_errors EBF1 HGNC ENSG00000164330 89 0 0.00 88 10 10.20 - - - FAAH2 0 genome.wustl.edu 37 X 57458464 57458464 + Silent SNP T T C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 X 57458464 57458464 T C SNP FAAH2 ENST00000374900 human ensembl 69_37n +1 known silent c.1110 p.D370 0.995 pfam_Amidase,superfamily_Amidase_dom pfam_Amidase,superfamily_Amidase_dom - no_errors FAAH2 HGNC ENSG00000165591 92 0 0.00 83 26 23.85 - - - FABP6 0 genome.wustl.edu 37 5 159640763 159640763 + Silent SNP T T G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 5 159640763 159640763 T G SNP FABP6 ENST00000393980 human ensembl 69_37n +1 known silent c.72 p.S24 0.000 NULL superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP6 HGNC ENSG00000170231 40 0 0.00 60 16 21.05 - - - FAM150B 0 genome.wustl.edu 37 2 283135 283135 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 283135 283135 G A SNP FAM150B ENST00000401489 human ensembl 69_37n -1 novel missense c.281 p.S94L 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FAM150B HGNC ENSG00000189292 85 0 0.00 131 15 10.27 - - - FAM65B 0 genome.wustl.edu 37 6 24843451 24843451 + Missense_Mutation SNP C C A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 6 24843451 24843451 C A SNP FAM65B ENST00000259698 human ensembl 69_37n -1 known missense c.1559 p.R520L 0.006 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 73 0 0.00 67 29 30.21 - - - FAM69A 0 genome.wustl.edu 37 1 93309463 93309463 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 93309463 93309463 C G SNP FAM69A ENST00000370310 human ensembl 69_37n -1 known missense c.764 p.R255T 1.000 pfam_Uncharacterised_FAM69 pfam_Uncharacterised_FAM69 - no_errors FAM69A HGNC ENSG00000154511 49 0 0.00 52 31 37.35 - - - FAM86DP 0 genome.wustl.edu 37 3 75471823 75471823 + RNA SNP T T C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 3 75471823 75471823 T C SNP FAM86DP ENST00000459803 human ensembl 69_37n -1 known rna NULL NULL 0.080 - - - no_errors FAM86DP HGNC ENSG00000244026 23 0 0.00 16 11 40.74 - - - FAT3 0 genome.wustl.edu 37 11 92088166 92088166 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 11 92088166 92088166 C T SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known missense c.2888 p.P963L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 77 0 0.00 57 42 42.42 - - - FOXO3 0 genome.wustl.edu 37 6 108985251 108985251 + Silent SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 6 108985251 108985251 G A SNP FOXO3 ENST00000343882 human ensembl 69_37n +1 known silent c.1215 p.G405 0.003 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 74 0 0.00 70 34 32.69 - - - FTCD 0 genome.wustl.edu 37 21 47575476 47575476 + RNA SNP T T G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 21 47575476 47575476 T G SNP FTCD ENST00000498355 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors FTCD HGNC ENSG00000160282 30 0 0.00 22 8 26.67 - - - GABRA4 0 genome.wustl.edu 37 4 46967110 46967110 + Missense_Mutation SNP A A C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 4 46967110 46967110 A C SNP GABRA4 ENST00000264318 human ensembl 69_37n -1 known missense c.1011 p.F337L 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 55 0 0.00 84 20 19.23 - - - GANC 0 genome.wustl.edu 37 15 42621623 42621623 + Silent SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 15 42621623 42621623 C G SNP GANC ENST00000318010 human ensembl 69_37n +1 known silent c.1620 p.L540 0.984 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANC HGNC ENSG00000214013 74 0 0.00 86 48 35.56 - - - GFRA3 0 genome.wustl.edu 37 5 137589525 137589525 + Silent SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 5 137589525 137589525 G A SNP GFRA3 ENST00000274721 human ensembl 69_37n -1 known silent c.954 p.C318 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 48 0 0.00 36 21 36.21 - - - GPM6B 0 genome.wustl.edu 37 X 13795518 13795518 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 X 13795518 13795518 C T SNP GPM6B ENST00000316715 human ensembl 69_37n -1 known missense c.724 p.G242R 1.000 pfam_Myelin_PLP,smart_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6B HGNC ENSG00000046653 33 0 0.00 38 22 36.67 - - - GPNMB 0 genome.wustl.edu 37 7 23313462 23313462 + RNA SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 7 23313462 23313462 A G SNP GPNMB ENST00000470994 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors GPNMB HGNC ENSG00000136235 21 0 0.00 15 3 16.67 - - - GSTCD 0 genome.wustl.edu 37 4 106746941 106746941 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 4 106746941 106746941 G A SNP GSTCD ENST00000360505 human ensembl 69_37n +1 known missense c.1514 p.G505E 1.000 NULL pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like - no_errors GSTCD HGNC ENSG00000138780 23 0 0.00 32 12 27.27 - - - HAL 0 genome.wustl.edu 37 12 96389672 96389672 + Missense_Mutation SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 12 96389672 96389672 A G SNP HAL ENST00000261208 human ensembl 69_37n -1 known missense c.17 p.V6A 1.000 NULL pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH - no_errors HAL HGNC ENSG00000084110 60 0 0.00 58 10 14.71 - - - HEATR7B2 0 genome.wustl.edu 37 5 41018468 41018468 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 5 41018468 41018468 G A SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known missense c.2738 p.A913V 0.016 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 50 0 0.00 31 28 47.46 - - - HPR 0 genome.wustl.edu 37 16 72110338 72110338 + Missense_Mutation SNP T T A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 16 72110338 72110338 T A SNP HPR ENST00000228226 human ensembl 69_37n +1 known missense c.516 p.N172K 0.998 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HPR HGNC ENSG00000261701 41 0 0.00 53 21 28.38 - - - HRC 0 genome.wustl.edu 37 19 49657150 49657150 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 19 49657150 49657150 C G SNP HRC ENST00000252825 human ensembl 69_37n -1 known missense c.1345 p.E449Q 0.123 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 99 0 0.00 114 52 31.33 - - - HSD3B1 0 genome.wustl.edu 37 1 120056825 120056825 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 120056825 120056825 G A SNP HSD3B1 ENST00000235547 human ensembl 69_37n +1 known missense c.685 p.G229S 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC ENSG00000203857 56 0 0.00 97 38 28.15 - - - HSP90AB1 0 genome.wustl.edu 37 6 44220997 44220997 + Silent SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 6 44220997 44220997 G A SNP HSP90AB1 ENST00000353801 human ensembl 69_37n +1 known silent c.1947 p.K649 1.000 pfam_Hsp90,pirsf_Hsp90 pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 59 0 0.00 123 17 12.14 - - - IGFN1 0 genome.wustl.edu 37 1 201178470 201178470 + Silent SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 201178470 201178470 G A SNP IGFN1 ENST00000335211 human ensembl 69_37n +1 known silent c.4449 p.R1483 0.092 NULL 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 IGFN1 HGNC ENSG00000163395 21 0 0.00 24 8 25.00 - - - IGSF10 0 genome.wustl.edu 37 3 151155222 151155222 + Frame_Shift_Del DEL C C - TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 3 151155222 151155222 C - DEL IGSF10 ENST00000282466 human ensembl 69_37n -1 known frame_shift_del c.7127 p.G2376fs 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 18 0 0.00 19 6 24.00 - - - IGSF9 0 genome.wustl.edu 37 1 159901663 159901663 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 159901663 159901663 C G SNP IGSF9 ENST00000368094 human ensembl 69_37n -1 known missense c.1301 p.R434P 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_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9 HGNC ENSG00000085552 50 0 0.00 55 28 33.73 - - - KCNAB2 0 genome.wustl.edu 37 1 6100694 6100694 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 6100694 6100694 G C SNP KCNAB2 ENST00000472700 human ensembl 69_37n +1 putative missense c.17 p.G6A 1.000 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KCNAB2 HGNC ENSG00000069424 19 0 0.00 7 16 69.57 - - - KCNK6 0 genome.wustl.edu 37 19 38817294 38817294 + Silent SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 19 38817294 38817294 C G SNP KCNK6 ENST00000263372 human ensembl 69_37n +1 known silent c.384 p.L128 0.961 pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TWIK2,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK1 - no_errors KCNK6 HGNC ENSG00000099337 103 0 0.00 98 50 33.78 - - - KIAA1549 0 genome.wustl.edu 37 7 138601731 138601731 + Missense_Mutation SNP T T C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 7 138601731 138601731 T C SNP KIAA1549 ENST00000422774 human ensembl 69_37n -1 known missense c.2641 p.T881A 0.002 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 77 0 0.00 101 29 22.14 - - - KIAA1984 0 genome.wustl.edu 37 9 139694614 139694614 + Frame_Shift_Del DEL T T - TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 9 139694614 139694614 T - DEL KIAA1984 ENST00000338005 human ensembl 69_37n +1 known frame_shift_del c.431 p.L144fs 0.028 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 9 0 0.00 5 3 37.50 - - - KIRREL3 0 genome.wustl.edu 37 11 126294819 126294819 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 11 126294819 126294819 C T SNP KIRREL3 ENST00000525144 human ensembl 69_37n -1 known missense c.1993 p.G665S 0.992 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL3 HGNC ENSG00000149571 32 0 0.00 12 15 55.56 - - - KRT3 0 genome.wustl.edu 37 12 53189396 53189396 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 12 53189396 53189396 C T SNP KRT3 ENST00000309505 human ensembl 69_37n -1 known missense c.431 p.G144D 0.964 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 129 0 0.00 103 45 30.41 - - - LELP1 0 genome.wustl.edu 37 1 153177231 153177231 + Silent SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 153177231 153177231 C T SNP LELP1 ENST00000368747 human ensembl 69_37n +1 known silent c.48 p.P16 0.906 NULL NULL - no_errors LELP1 HGNC ENSG00000203784 32 0 0.00 73 11 12.94 - - - LHFP 0 genome.wustl.edu 37 13 40175303 40175303 + Silent SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 13 40175303 40175303 A G SNP LHFP ENST00000379589 human ensembl 69_37n -1 known silent c.51 p.F17 0.985 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFP HGNC ENSG00000183722 21 0 0.00 12 6 33.33 - - - LOXHD1 0 genome.wustl.edu 37 18 44126941 44126941 + Missense_Mutation SNP T T A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 18 44126941 44126941 T A SNP LOXHD1 ENST00000536736 human ensembl 69_37n -1 known missense c.3431 p.E1144V 1.000 NULL pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC ENSG00000167210 45 0 0.00 51 20 28.17 - - - LRBA 0 genome.wustl.edu 37 4 151656509 151656509 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 4 151656509 151656509 G C SNP LRBA ENST00000357115 human ensembl 69_37n -1 known missense c.5655 p.S1885R 1.000 pfam_DUF1088 pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 80 0 0.00 95 26 21.49 - - - LRP1 0 genome.wustl.edu 37 12 57556676 57556676 + Missense_Mutation SNP T T C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 12 57556676 57556676 T C SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known missense c.2440 p.C814R 1.000 smart_EGF-like pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 139 0 0.00 161 19 10.44 - - - LRP1 0 genome.wustl.edu 37 12 57556677 57556677 + Missense_Mutation SNP G G T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 12 57556677 57556677 G T SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known missense c.2441 p.C814F 1.000 smart_EGF-like pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 137 0 0.00 158 18 10.23 - - - LRP1 0 genome.wustl.edu 37 12 57591445 57591445 + Nonsense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 12 57591445 57591445 C T SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known nonsense c.9280 p.Q3094* 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 46 0 0.00 48 21 30.43 - - - LRRC27 0 genome.wustl.edu 37 10 134158188 134158188 + RNA SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 10 134158188 134158188 A G SNP LRRC27 ENST00000489204 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors LRRC27 HGNC ENSG00000148814 51 0 0.00 74 10 11.90 - - - LRRTM1 0 genome.wustl.edu 37 2 80529855 80529855 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 80529855 80529855 C T SNP LRRTM1 ENST00000295057 human ensembl 69_37n -1 known missense c.1090 p.E364K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 50 0 0.00 43 22 33.85 - - - LRRTM2 0 genome.wustl.edu 37 5 138210118 138210118 + Silent SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 5 138210118 138210118 G C SNP LRRTM2 ENST00000274711 human ensembl 69_37n -1 known silent c.132 p.L44 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM2 HGNC ENSG00000146006 32 0 0.00 28 5 15.15 - - - LRTM2 0 genome.wustl.edu 37 12 1943943 1943943 + RNA SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 12 1943943 1943943 C G SNP LRTM2 ENST00000543730 human ensembl 69_37n +1 putative rna NULL NULL 0.001 - - - no_errors LRTM2 HGNC ENSG00000166159 16 0 0.00 23 10 30.30 - - - LTF 0 genome.wustl.edu 37 3 46488803 46488803 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 3 46488803 46488803 G C SNP LTF ENST00000231751 human ensembl 69_37n -1 known missense c.1299 p.N433K 0.008 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 - no_errors LTF HGNC ENSG00000012223 75 0 0.00 69 36 34.29 - - - LUZP2 0 genome.wustl.edu 37 11 24750806 24750806 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 11 24750806 24750806 C T SNP LUZP2 ENST00000336930 human ensembl 69_37n +1 known missense c.154 p.L52F 1.000 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 34 0 0.00 44 5 10.20 - - - MAGEA11 0 genome.wustl.edu 37 X 148798081 148798081 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 X 148798081 148798081 C G SNP MAGEA11 ENST00000355220 human ensembl 69_37n +1 known missense c.935 p.S312C 0.002 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC ENSG00000185247 71 0 0.00 93 28 23.14 - - - MAGI1 0 genome.wustl.edu 37 3 65350532 65350532 + Missense_Mutation SNP T T C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 3 65350532 65350532 T C SNP MAGI1 ENST00000402939 human ensembl 69_37n -1 known missense c.3286 p.T1096A 0.998 superfamily_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI1 HGNC ENSG00000151276 31 0 0.00 44 11 20.00 - - - MAMLD1 0 genome.wustl.edu 37 X 149631069 149631069 + Missense_Mutation SNP A A T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 X 149631069 149631069 A T SNP MAMLD1 ENST00000262858 human ensembl 69_37n +1 known missense c.128 p.D43V 0.015 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 39 0 0.00 43 27 38.57 - - - MAP3K1 0 genome.wustl.edu 37 5 56160701 56160701 + Missense_Mutation SNP C C A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 5 56160701 56160701 C A SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel missense c.975 p.N325K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 49 0 0.00 55 7 11.29 - - - MAPK15 0 genome.wustl.edu 37 8 144803948 144803948 + Silent SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 8 144803948 144803948 G A SNP MAPK15 ENST00000338033 human ensembl 69_37n +1 known silent c.1356 p.A452 0.213 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPK15 HGNC ENSG00000181085 35 0 0.00 77 15 16.13 - - - MCM3AP-AS1 0 genome.wustl.edu 37 21 47669888 47669888 + RNA SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 21 47669888 47669888 C T SNP MCM3AP-AS1 ENST00000414659 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 32 0 0.00 28 6 17.65 - - - MERTK 0 genome.wustl.edu 37 2 112704979 112704979 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 112704979 112704979 C T SNP MERTK ENST00000295408 human ensembl 69_37n +1 known missense c.592 p.H198Y 0.840 pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 64 0 0.00 92 11 10.68 - - - MLL 0 genome.wustl.edu 37 11 118373416 118373416 + Frame_Shift_Del DEL A A - TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 11 118373416 118373416 A - DEL MLL ENST00000389506 human ensembl 69_37n +1 known frame_shift_del c.6800 p.R2268fs 0.815 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 27 0 0.00 16 10 38.46 - - - MLL 0 genome.wustl.edu 37 11 118373824 118373824 + Missense_Mutation SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 11 118373824 118373824 A G SNP MLL ENST00000389506 human ensembl 69_37n +1 known missense c.7208 p.K2403R 0.980 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 37 0 0.00 27 12 30.77 - - - MMP2 0 genome.wustl.edu 37 16 55536778 55536778 + Silent SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 16 55536778 55536778 C G SNP MMP2 ENST00000219070 human ensembl 69_37n +1 known silent c.1857 p.A619 0.644 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP2 HGNC ENSG00000087245 37 0 0.00 40 11 21.57 - - - MRPL23 0 genome.wustl.edu 37 11 1973402 1973402 + Missense_Mutation SNP C C A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 11 1973402 1973402 C A SNP MRPL23 ENST00000381519 human ensembl 69_37n +1 known missense c.186 p.N62K 0.062 pfam_Ribosomal_L25/23,superfamily_Ribosomal_L23/L15e_core_dom pfam_Ribosomal_L25/23,superfamily_Ribosomal_L23/L15e_core_dom - no_errors MRPL23 HGNC ENSG00000214026 89 0 0.00 81 11 11.96 - - - MTIF2 0 genome.wustl.edu 37 2 55467276 55467276 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 55467276 55467276 C T SNP MTIF2 ENST00000263629 human ensembl 69_37n -1 known missense c.1741 p.V581I 0.918 pfam_TIF_IF2_dom3,superfamily_TIF_IF2_dom3 pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_TIF_IF2_dom3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 49 0 0.00 80 31 27.93 - - - MUC6 0 genome.wustl.edu 37 11 1031654 1031654 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 11 1031654 1031654 G C SNP MUC6 ENST00000421673 human ensembl 69_37n -1 known missense c.436 p.L146V 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 77 0 0.00 38 43 53.09 - - - NBPF20 0 genome.wustl.edu 37 1 148341944 148341944 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 148341944 148341944 G C SNP NBPF20 ENST00000369202 human ensembl 69_37n -1 known missense c.629 p.T210S 0.001 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF20 HGNC ENSG00000203832 115 0 0.00 181 22 10.84 - - - NDUFA7 0 genome.wustl.edu 37 19 8381404 8381404 + Missense_Mutation SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 19 8381404 8381404 A G SNP NDUFA7 ENST00000301457 human ensembl 69_37n -1 known missense c.227 p.L76P 0.971 pfam_NADH-UbQ_OxRdtase_B14.5a_su pfam_NADH-UbQ_OxRdtase_B14.5a_su - no_errors NDUFA7 HGNC ENSG00000167774 28 0 0.00 30 9 23.08 - - - NEDD4 0 genome.wustl.edu 37 15 56126305 56126305 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 15 56126305 56126305 G C SNP NEDD4 ENST00000508342 human ensembl 69_37n -1 known missense c.3618 p.D1206E 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors NEDD4 HGNC ENSG00000069869 61 0 0.00 64 16 20.00 - - - NEK9 0 genome.wustl.edu 37 14 75576564 75576564 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 14 75576564 75576564 C G SNP NEK9 ENST00000238616 human ensembl 69_37n -1 known missense c.1006 p.E336Q 1.000 superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 21 0 0.00 14 15 51.72 - - - NFATC3 0 genome.wustl.edu 37 16 68156617 68156617 + Nonsense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 16 68156617 68156617 C T SNP NFATC3 ENST00000570212 human ensembl 69_37n +1 putative nonsense c.784 p.Q262* 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NFATC3 HGNC ENSG00000072736 41 0 0.00 55 15 21.43 - - - NFKBIB 0 genome.wustl.edu 37 19 39390822 39390822 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 19 39390822 39390822 C G SNP NFKBIB ENST00000392079 human ensembl 69_37n +1 known missense c.110 p.S37C 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIB HGNC ENSG00000104825 138 0 0.00 224 30 11.81 - - - NLRP8 0 genome.wustl.edu 37 19 56466905 56466905 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 19 56466905 56466905 G A SNP NLRP8 ENST00000291971 human ensembl 69_37n +1 known missense c.1481 p.R494Q 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 87 0 0.00 113 49 30.25 - - - NPAS4 0 genome.wustl.edu 37 11 66189985 66189985 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 11 66189985 66189985 G A SNP NPAS4 ENST00000311034 human ensembl 69_37n +1 known missense c.391 p.V131M 1.000 smart_PAS,pfscan_PAS pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 67 0 0.00 46 24 34.29 - - - NR1H4 0 genome.wustl.edu 37 12 100957179 100957179 + Missense_Mutation SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 12 100957179 100957179 A G SNP NR1H4 ENST00000551379 human ensembl 69_37n +1 known missense c.1373 p.N458S 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt 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_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 30 0 0.00 22 24 52.17 - - - OR2A14 0 genome.wustl.edu 37 7 143826250 143826250 + Silent SNP A A T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 7 143826250 143826250 A T SNP OR2A14 ENST00000408899 human ensembl 69_37n +1 known silent c.45 p.R15 0.203 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2A14 HGNC ENSG00000221938 96 0 0.00 191 51 21.07 - - - OR6F1 0 genome.wustl.edu 37 1 247875785 247875785 + Silent SNP G G T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 247875785 247875785 G T SNP OR6F1 ENST00000302084 human ensembl 69_37n -1 known silent c.273 p.T91 0.004 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6F1 HGNC ENSG00000169214 48 0 0.00 54 13 19.40 - - - PASK 0 genome.wustl.edu 37 2 242076635 242076635 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 242076635 242076635 G C SNP PASK ENST00000433589 human ensembl 69_37n -1 novel missense c.365 p.P122R 0.966 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PASK HGNC ENSG00000115687 64 0 0.00 64 36 36.00 - - - PCDHA6 0 genome.wustl.edu 37 5 140209511 140209511 + Missense_Mutation SNP A A C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 5 140209511 140209511 A C SNP PCDHA6 ENST00000529310 human ensembl 69_37n +1 known missense c.1835 p.Q612P 0.010 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 PCDHA6 HGNC ENSG00000081842 121 0 0.00 151 36 19.25 - - - PCNXL2 0 genome.wustl.edu 37 1 233136225 233136225 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 233136225 233136225 G C SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known missense c.5154 p.I1718M 1.000 pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 28 0 0.00 21 9 30.00 - - - PCOLCE-AS1 0 genome.wustl.edu 37 7 100201566 100201566 + RNA SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 7 100201566 100201566 C G SNP PCOLCE-AS1 ENST00000442166 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PCOLCE-AS1 HGNC ENSG00000224729 57 0 0.00 63 22 25.88 - - - PDZRN3 0 genome.wustl.edu 37 3 73651605 73651605 + Missense_Mutation SNP T T C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 3 73651605 73651605 T C SNP PDZRN3 ENST00000263666 human ensembl 69_37n -1 known missense c.818 p.H273R 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 49 0 0.00 61 14 18.42 - - - PENK 0 genome.wustl.edu 37 8 57358343 57358343 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 8 57358343 57358343 G A SNP PENK ENST00000518770 human ensembl 69_37n -1 putative missense c.170 p.P57L 0.001 NULL pfam_Opioid_neupept,prints_Proenkphlin_A - no_errors PENK HGNC ENSG00000181195 96 0 0.00 120 42 25.77 - - - PHLPP1 0 genome.wustl.edu 37 18 60572515 60572515 + Missense_Mutation SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 18 60572515 60572515 A G SNP PHLPP1 ENST00000591386 human ensembl 69_37n +1 novel missense c.76 p.K26E 1.000 pfam_Leu-rich_rpt pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_start_codon:pseudogene:no_stop_codon PHLPP1 HGNC ENSG00000081913 54 0 0.00 68 11 13.92 - - - PIF1 0 genome.wustl.edu 37 15 65114490 65114490 + Silent SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 15 65114490 65114490 C G SNP PIF1 ENST00000333425 human ensembl 69_37n -1 known silent c.792 p.G264 1.000 pfam_DNA_helicase_PIF1 pfam_DNA_helicase_PIF1,pfam_DNA_helicase - no_errors PIF1 HGNC ENSG00000140451 56 0 0.00 33 9 21.43 - - - PKD1 0 genome.wustl.edu 37 16 2161709 2161709 + Silent SNP C C A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 16 2161709 2161709 C A SNP PKD1 ENST00000262304 human ensembl 69_37n -1 known silent c.3459 p.S1153 0.000 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,prints_PKD_1,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 152 0 0.00 161 62 27.68 - - - PLS3 0 genome.wustl.edu 37 X 114879343 114879343 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 X 114879343 114879343 G A SNP PLS3 ENST00000355899 human ensembl 69_37n +1 known missense c.1186 p.E396K 1.000 superfamily_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS3 HGNC ENSG00000102024 78 0 0.00 93 33 26.19 - - - PLXNA3 0 genome.wustl.edu 37 X 153693508 153693508 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 X 153693508 153693508 C T SNP PLXNA3 ENST00000369682 human ensembl 69_37n +1 known missense c.2191 p.R731W 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 106 0 0.00 147 36 19.67 - - - PNKD 0 genome.wustl.edu 37 2 219209616 219209616 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 219209616 219209616 G C SNP PNKD ENST00000273077 human ensembl 69_37n +1 known missense c.1070 p.G357A 0.606 tigrfam_Hydroxyacylglutathione_Hdrlase pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase - no_errors PNKD HGNC ENSG00000127838 47 0 0.00 52 7 11.86 - - - PRDM10 0 genome.wustl.edu 37 11 129802065 129802065 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 11 129802065 129802065 G A SNP PRDM10 ENST00000358825 human ensembl 69_37n -1 known missense c.1219 p.R407C 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 72 0 0.00 76 27 26.21 - - - PRDX3 0 genome.wustl.edu 37 10 120928938 120928938 + RNA SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 10 120928938 120928938 C T SNP PRDX3 ENST00000494433 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors PRDX3 HGNC ENSG00000165672 26 0 0.00 21 5 19.23 - - - PRKCZ 0 genome.wustl.edu 37 1 2103743 2103743 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 2103743 2103743 G C SNP PRKCZ ENST00000378567 human ensembl 69_37n +1 known missense c.1201 p.G401R 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,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_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCZ HGNC ENSG00000067606 47 0 0.00 22 31 58.49 - - - PROCR 0 genome.wustl.edu 37 20 33764193 33764193 + Missense_Mutation SNP T T G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 20 33764193 33764193 T G SNP PROCR ENST00000216968 human ensembl 69_37n +1 known missense c.545 p.L182R 1.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC ENSG00000101000 63 0 0.00 58 12 17.14 - - - PTGES2 0 genome.wustl.edu 37 9 130883327 130883327 + RNA SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 9 130883327 130883327 C T SNP PTGES2 ENST00000476811 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors PTGES2 HGNC ENSG00000148334 35 0 0.00 40 10 20.00 - - - REC8 0 genome.wustl.edu 37 14 24648629 24648629 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 14 24648629 24648629 G A SNP REC8 ENST00000311457 human ensembl 69_37n +1 known missense c.1276 p.E426K 1.000 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors REC8 HGNC ENSG00000100918 47 0 0.00 24 24 50.00 - - - RFX5 0 genome.wustl.edu 37 1 151316744 151316744 + Missense_Mutation SNP T T A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 151316744 151316744 T A SNP RFX5 ENST00000290524 human ensembl 69_37n -1 known missense c.484 p.S162C 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 42 0 0.00 54 22 28.95 - - - RNF145 0 genome.wustl.edu 37 5 158630600 158630600 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 5 158630600 158630600 G A SNP RNF145 ENST00000274542 human ensembl 69_37n -1 known missense c.110 p.A37V 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 47 0 0.00 40 30 41.10 - - - RNF148 0 genome.wustl.edu 37 7 122342506 122342506 + Nonsense_Mutation SNP G G T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 7 122342506 122342506 G T SNP RNF148 ENST00000434824 human ensembl 69_37n -1 known nonsense c.299 p.S100* 0.434 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 93 0 0.00 136 18 11.69 - - - RNF214 0 genome.wustl.edu 37 11 117109606 117109606 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 11 117109606 117109606 C T SNP RNF214 ENST00000300650 human ensembl 69_37n +1 known missense c.397 p.R133W 0.995 NULL pfscan_Znf_RING - no_errors RNF214 HGNC ENSG00000167257 72 0 0.00 79 10 10.99 - - - RPUSD3 0 genome.wustl.edu 37 3 9880852 9880852 + Missense_Mutation SNP A A T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 3 9880852 9880852 A T SNP RPUSD3 ENST00000383820 human ensembl 69_37n -1 known missense c.728 p.F243Y 0.826 pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD3 HGNC ENSG00000156990 78 0 0.00 113 25 18.12 - - - RYR2 0 genome.wustl.edu 37 1 237620028 237620028 + Missense_Mutation SNP G G T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 237620028 237620028 G T SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.1599 p.E533D 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 24 0 0.00 41 13 24.07 - - - SCN8A 0 genome.wustl.edu 37 12 52164368 52164368 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 12 52164368 52164368 G C SNP SCN8A ENST00000354534 human ensembl 69_37n +1 known missense c.3546 p.K1182N 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 73 0 0.00 101 27 21.09 - - - SELE 0 genome.wustl.edu 37 1 169700791 169700791 + RNA SNP T T A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 169700791 169700791 T A SNP SELE ENST00000461085 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors SELE HGNC ENSG00000007908 8 0 0.00 12 4 25.00 - - - SIGLEC16 0 genome.wustl.edu 37 19 50474627 50474627 + Missense_Mutation SNP A A C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 19 50474627 50474627 A C SNP SIGLEC16 ENST00000456956 human ensembl 69_37n +1 known missense c.959 p.D320A 0.427 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC16 HGNC ENSG00000161643 197 0 0.00 308 48 13.48 - - - SLC25A32 0 genome.wustl.edu 37 8 104419955 104419955 + Missense_Mutation SNP G G T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 8 104419955 104419955 G T SNP SLC25A32 ENST00000297578 human ensembl 69_37n -1 known missense c.212 p.T71N 0.990 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A32 HGNC ENSG00000164933 38 0 0.00 66 29 30.53 - - - SLC38A1 0 genome.wustl.edu 37 12 46662748 46662748 + RNA DEL A A - TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 12 46662748 46662748 A - DEL SLC38A1 ENST00000549633 human ensembl 69_37n -1 known rna NULL NULL 0.139 - - - no_errors SLC38A1 HGNC ENSG00000111371 24 0 0.00 22 12 35.29 - - - SLC39A7 0 genome.wustl.edu 37 6 33169360 33169360 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 6 33169360 33169360 G C SNP SLC39A7 ENST00000374675 human ensembl 69_37n +1 known missense c.338 p.S113T 1.000 prints_Kininogen pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC ENSG00000112473 61 0 0.00 89 10 10.10 - - - SLCO1B3 0 genome.wustl.edu 37 12 21036396 21036396 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 12 21036396 21036396 C G SNP SLCO1B3 ENST00000553473 human ensembl 69_37n +1 known missense c.1542 p.N514K 0.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 36 0 0.00 64 28 30.43 - - - SMR3B 0 genome.wustl.edu 37 4 71255410 71255410 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 4 71255410 71255410 C T SNP SMR3B ENST00000304915 human ensembl 69_37n +1 known missense c.85 p.P29S 0.005 NULL NULL - no_errors SMR3B HGNC ENSG00000171201 58 0 0.00 62 29 31.87 - - - SNAPIN 0 genome.wustl.edu 37 1 153631808 153631808 + RNA SNP T T G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 1 153631808 153631808 T G SNP SNAPIN ENST00000478558 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors SNAPIN HGNC ENSG00000143553 28 0 0.00 36 19 34.55 - - - SNTB1 0 genome.wustl.edu 37 8 121583404 121583404 + RNA SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 8 121583404 121583404 C T SNP SNTB1 ENST00000519177 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SNTB1 HGNC ENSG00000172164 12 0 0.00 20 8 28.57 - - - SNTN 0 genome.wustl.edu 37 3 63645407 63645407 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 3 63645407 63645407 G A SNP SNTN ENST00000343837 human ensembl 69_37n +1 known missense c.152 p.R51K 0.034 NULL NULL - no_errors SNTN HGNC ENSG00000188817 9 0 0.00 20 5 20.00 - - - SOGA2 0 genome.wustl.edu 37 18 8796256 8796256 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 18 8796256 8796256 G C SNP SOGA2 ENST00000359865 human ensembl 69_37n +1 known missense c.2037 p.L679F 0.970 NULL pfam_DUF3166 - no_errors SOGA2 HGNC ENSG00000168502 27 0 0.00 35 8 18.60 - - - SPATA2 0 genome.wustl.edu 37 20 48523167 48523167 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 20 48523167 48523167 C G SNP SPATA2 ENST00000289431 human ensembl 69_37n -1 known missense c.552 p.K184N 1.000 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 34 0 0.00 49 7 12.50 - - - SQSTM1 0 genome.wustl.edu 37 5 179260248 179260248 + Splice_Site SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 5 179260248 179260248 C G SNP SQSTM1 ENST00000389805 human ensembl 69_37n +1 known splice_site c.969+2 e6+2 0.965 - - - no_errors SQSTM1 HGNC ENSG00000161011 13 0 0.00 9 6 40.00 - - - SULF1 0 genome.wustl.edu 37 8 70571438 70571438 + RNA SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 8 70571438 70571438 G C SNP SULF1 ENST00000521946 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SULF1 HGNC ENSG00000137573 25 0 0.00 37 14 27.45 - - - SYN1 0 genome.wustl.edu 37 X 47432351 47432351 + Missense_Mutation SNP G G T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 X 47432351 47432351 G T SNP SYN1 ENST00000295987 human ensembl 69_37n -1 known missense c.2030 p.P677Q 1.000 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN1 HGNC ENSG00000008056 104 0 0.00 89 31 25.83 - - - SYTL3 0 genome.wustl.edu 37 6 159084348 159084348 + Silent SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 6 159084348 159084348 G A SNP SYTL3 ENST00000297239 human ensembl 69_37n +1 known silent c.48 p.E16 0.005 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain - no_errors SYTL3 HGNC ENSG00000164674 44 0 0.00 41 25 37.88 - - - TASP1 0 genome.wustl.edu 37 20 13605842 13605842 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 20 13605842 13605842 G A SNP TASP1 ENST00000337743 human ensembl 69_37n -1 known missense c.203 p.A68V 1.000 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors TASP1 HGNC ENSG00000089123 62 0 0.00 87 37 29.60 - - - TCEB3C 0 genome.wustl.edu 37 18 44554806 44554806 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 18 44554806 44554806 C G SNP TCEB3C ENST00000330682 human ensembl 69_37n -1 known missense c.1408 p.A470P 0.004 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3C HGNC ENSG00000183791 31 0 0.00 19 4 17.39 - - - TDRD7 0 genome.wustl.edu 37 9 100235835 100235835 + Missense_Mutation SNP G G T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 9 100235835 100235835 G T SNP TDRD7 ENST00000355295 human ensembl 69_37n +1 known missense c.2006 p.C669F 1.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 78 0 0.00 53 63 54.31 - - - TEKT1 0 genome.wustl.edu 37 17 6704183 6704183 + Missense_Mutation SNP T T G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 17 6704183 6704183 T G SNP TEKT1 ENST00000338694 human ensembl 69_37n -1 known missense c.932 p.K311T 1.000 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 97 0 0.00 44 56 56.00 - - - TLN1 0 genome.wustl.edu 37 9 35700198 35700198 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 9 35700198 35700198 C T SNP TLN1 ENST00000314888 human ensembl 69_37n -1 known missense c.6650 p.R2217Q 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 66 0 0.00 92 28 23.33 - - - TMC4 0 genome.wustl.edu 37 19 54666835 54666835 + Missense_Mutation SNP C C A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 19 54666835 54666835 C A SNP TMC4 ENST00000301187 human ensembl 69_37n -1 known missense c.1335 p.Q445H 1.000 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 36 0 0.00 40 7 14.89 - - - TMEM198B 0 genome.wustl.edu 37 12 56229140 56229140 + RNA SNP T T C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 12 56229140 56229140 T C SNP TMEM198B ENST00000471276 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TMEM198B HGNC ENSG00000182796 30 0 0.00 21 15 41.67 - - - TNKS1BP1 0 genome.wustl.edu 37 11 57080067 57080067 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 11 57080067 57080067 C G SNP TNKS1BP1 ENST00000358252 human ensembl 69_37n -1 known missense c.2095 p.A699P 0.003 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 34 0 0.00 47 18 27.69 - - - TNRC6C 0 genome.wustl.edu 37 17 76083110 76083110 + Silent SNP C C A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 17 76083110 76083110 C A SNP TNRC6C ENST00000335749 human ensembl 69_37n +1 known silent c.3729 p.G1243 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 77 0 0.00 84 30 26.32 - - - TP53 0 genome.wustl.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 17 7574003 7574003 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.1024 p.R342* 0.307 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,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 27 0 0.00 17 12 41.38 - - - TPRX1 0 genome.wustl.edu 37 19 48306017 48306017 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 19 48306017 48306017 G C SNP TPRX1 ENST00000535759 human ensembl 69_37n -1 known missense c.542 p.A181G 0.001 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TPRX1 HGNC ENSG00000178928 101 0 0.00 89 44 33.08 - - - TPTE2 0 genome.wustl.edu 37 13 20049728 20049728 + Nonsense_Mutation SNP G G T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 13 20049728 20049728 G T SNP TPTE2 ENST00000382977 human ensembl 69_37n -1 known nonsense c.215 p.S72* 0.067 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 48 0 0.00 51 23 31.08 - - - TRIP6 0 genome.wustl.edu 37 7 100470343 100470343 + Missense_Mutation SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 7 100470343 100470343 C T SNP TRIP6 ENST00000200457 human ensembl 69_37n +1 known missense c.1276 p.H426Y 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TRIP6 HGNC ENSG00000087077 52 0 0.00 72 9 11.11 - - - TRNT1 0 genome.wustl.edu 37 3 3189339 3189339 + Silent SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 3 3189339 3189339 A G SNP TRNT1 ENST00000251607 human ensembl 69_37n +1 known silent c.1008 p.A336 0.015 NULL pfam_PolA_pol_head_dom - no_errors TRNT1 HGNC ENSG00000072756 39 0 0.00 50 11 18.03 - - - TSC22D1 0 genome.wustl.edu 37 13 45149669 45149669 + Missense_Mutation SNP T T G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 13 45149669 45149669 T G SNP TSC22D1 ENST00000458659 human ensembl 69_37n -1 known missense c.542 p.Q181P 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 77 0 0.00 50 18 26.47 - - - TSSK1B 0 genome.wustl.edu 37 5 112769590 112769590 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 5 112769590 112769590 C G SNP TSSK1B ENST00000390666 human ensembl 69_37n -1 known missense c.947 p.G316A 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC ENSG00000212122 40 0 0.00 54 8 12.70 - - - TTN 0 genome.wustl.edu 37 2 179410772 179410772 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 179410772 179410772 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.87487 p.L29163F 0.998 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 41 0 0.00 60 23 27.71 - - - UBXN7 0 genome.wustl.edu 37 3 196088786 196088786 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 3 196088786 196088786 C G SNP UBXN7 ENST00000296328 human ensembl 69_37n -1 known missense c.1237 p.A413P 1.000 pfam_UBX,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX - no_errors UBXN7 HGNC ENSG00000163960 41 0 0.00 60 13 17.81 - - - UGT2B4 0 genome.wustl.edu 37 4 70351053 70351053 + Silent SNP A A G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 4 70351053 70351053 A G SNP UGT2B4 ENST00000305107 human ensembl 69_37n -1 known silent c.1183 p.L395 0.555 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B4 HGNC ENSG00000156096 129 0 0.00 172 37 17.70 - - - USP49 0 genome.wustl.edu 37 6 41764309 41764309 + Missense_Mutation SNP T T G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 6 41764309 41764309 T G SNP USP49 ENST00000373009 human ensembl 69_37n -1 known missense c.2029 p.S677R 0.999 NULL pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP49 HGNC ENSG00000164663 74 0 0.00 108 49 31.21 - - - VCPIP1 0 genome.wustl.edu 37 8 67547063 67547063 + Silent SNP A A C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 8 67547063 67547063 A C SNP VCPIP1 ENST00000310421 human ensembl 69_37n -1 known silent c.3342 p.S1114 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 46 0 0.00 49 31 38.75 - - - VIL1 0 genome.wustl.edu 37 2 219301895 219301895 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 219301895 219301895 G A SNP VIL1 ENST00000248444 human ensembl 69_37n +1 known missense c.2020 p.A674T 0.987 pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors VIL1 HGNC ENSG00000127831 52 0 0.00 46 22 32.35 - - - WASH6P 0 genome.wustl.edu 37 X 155253526 155253526 + RNA SNP A A T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 X 155253526 155253526 A T SNP WASH6P ENST00000461007 human ensembl 69_37n +1 known rna NULL NULL 0.005 - - - no_errors WASH6P HGNC ENSG00000182484 15 0 0.00 21 7 25.00 - - - WDR13 0 genome.wustl.edu 37 X 48458724 48458724 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 X 48458724 48458724 G A SNP WDR13 ENST00000218056 human ensembl 69_37n +1 known missense c.541 p.A181T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 64 0 0.00 68 20 22.73 - - - WDR69 0 genome.wustl.edu 37 2 228777092 228777092 + Missense_Mutation SNP G G T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 2 228777092 228777092 G T SNP WDR69 ENST00000373666 human ensembl 69_37n +1 novel missense c.1096 p.G366C 0.005 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR69 HGNC ENSG00000123977 72 0 0.00 99 42 29.79 - - - WNT3 0 genome.wustl.edu 37 17 44851158 44851158 + Missense_Mutation SNP C C A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 17 44851158 44851158 C A SNP WNT3 ENST00000225512 human ensembl 69_37n -1 known missense c.198 p.M66I 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3 HGNC ENSG00000108379 65 0 0.00 36 44 55.00 - - - WSB1 0 genome.wustl.edu 37 17 25630544 25630544 + Missense_Mutation SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 17 25630544 25630544 G C SNP WSB1 ENST00000262394 human ensembl 69_37n +1 known missense c.361 p.E121Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,prints_G-protein_beta_WD-40_rep,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WSB1 HGNC ENSG00000109046 56 0 0.00 55 7 11.29 - - - ZCCHC8 0 genome.wustl.edu 37 12 122975062 122975062 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 12 122975062 122975062 C G SNP ZCCHC8 ENST00000336229 human ensembl 69_37n -1 known missense c.370 p.E124Q 1.000 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 61 0 0.00 38 31 44.93 - - - ZFHX2 0 genome.wustl.edu 37 14 23995602 23995602 + Silent SNP C C T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 14 23995602 23995602 C T SNP ZFHX2 ENST00000419474 human ensembl 69_37n -1 known silent c.3549 p.K1183 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 49 0 0.00 39 22 36.07 - - - ZFHX3 0 genome.wustl.edu 37 16 72821415 72821415 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 16 72821415 72821415 G A SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known missense c.10760 p.S3587L 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 33 0 0.00 50 25 33.33 - - - ZNF236 0 genome.wustl.edu 37 18 74536333 74536333 + Missense_Mutation SNP T T C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 18 74536333 74536333 T C SNP ZNF236 ENST00000253159 human ensembl 69_37n +1 known missense c.20 p.L7P 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 85 0 0.00 118 17 12.50 - - - ZNF253 0 genome.wustl.edu 37 19 20003546 20003546 + Missense_Mutation SNP G G T TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 19 20003546 20003546 G T SNP ZNF253 ENST00000589717 human ensembl 69_37n +1 known missense c.1490 p.S497I 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 ZNF253 HGNC ENSG00000256771 27 0 0.00 35 4 10.26 - - - ZNF423 0 genome.wustl.edu 37 16 49672766 49672766 + Silent SNP T T C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 16 49672766 49672766 T C SNP ZNF423 ENST00000262383 human ensembl 69_37n -1 known silent c.297 p.Q99 0.563 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 29 0 0.00 21 17 44.74 - - - ZNF565 0 genome.wustl.edu 37 19 36673716 36673716 + Silent SNP G G C TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 19 36673716 36673716 G C SNP ZNF565 ENST00000304116 human ensembl 69_37n -1 known silent c.1152 p.V384 0.998 pfam_Znf_C2H2,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 ZNF565 HGNC ENSG00000196357 55 0 0.00 68 17 20.00 - - - ZNF799 0 genome.wustl.edu 37 19 12502700 12502700 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 19 12502700 12502700 C G SNP ZNF799 ENST00000430385 human ensembl 69_37n -1 known missense c.512 p.C171S 0.662 pfam_Znf_C2H2,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 ZNF799 HGNC ENSG00000196466 104 0 0.00 154 42 21.43 - - - ZNF879 0 genome.wustl.edu 37 5 178459848 178459848 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d8fbb398-d1da-4444-984a-22c8523625da 46e1fd58-c2ea-46ef-bfc9-26d61e7be608 5 178459848 178459848 G A SNP ZNF879 ENST00000444149 human ensembl 69_37n +1 known missense c.899 p.S300N 0.039 pfam_Znf_C2H2,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 ZNF879 HGNC ENSG00000234284 38 0 0.00 60 7 10.29 - - -