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 AACS 0 genome.wustl.edu 37 12 125613914 125613914 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 125613914 125613914 T G SNP AACS ENST00000316519 human ensembl 69_37n +1 known missense c.1457 p.V486G 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 222 1 0.45 146 21 12.50 - - - AADAT 0 genome.wustl.edu 37 4 171009669 171009669 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 171009669 171009669 A C SNP AADAT ENST00000509167 human ensembl 69_37n -1 known silent c.126 p.G42 0.998 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AADAT HGNC ENSG00000109576 171 0 0.00 76 21 21.65 - - - AAK1 0 genome.wustl.edu 37 2 69769717 69769717 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 69769717 69769717 T G SNP AAK1 ENST00000409085 human ensembl 69_37n -1 known missense c.472 p.T158P 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,pfscan_Prot_kinase_cat_dom 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 AAK1 HGNC ENSG00000115977 168 0 0.00 123 27 18.00 - - - AAR2 0 genome.wustl.edu 37 20 34843539 34843539 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 34843539 34843539 A C SNP AAR2 ENST00000320849 human ensembl 69_37n +1 known missense c.1027 p.T343P 1.000 pfam_AAR2 pfam_AAR2 - no_errors AAR2 HGNC ENSG00000131043 241 2 0.82 250 28 10.07 - - - AARS 0 genome.wustl.edu 37 16 70296403 70296403 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 70296403 70296403 A C SNP AARS ENST00000261772 human ensembl 69_37n -1 known missense c.1517 p.V506G 1.000 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc - no_errors AARS HGNC ENSG00000090861 37 0 0.00 28 10 26.32 - - - ABAT 0 genome.wustl.edu 37 16 8862752 8862752 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 8862752 8862752 A C SNP ABAT ENST00000268251 human ensembl 69_37n +1 known silent c.738 p.A246 0.025 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk - no_errors ABAT HGNC ENSG00000183044 124 1 0.80 125 24 16.11 - - - ABCA1 0 genome.wustl.edu 37 9 107558363 107558363 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 107558363 107558363 T G SNP ABCA1 ENST00000374736 human ensembl 69_37n -1 known missense c.5353 p.T1785P 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 264 0 0.00 239 32 11.72 - - - ABCA1 0 genome.wustl.edu 37 9 107588012 107588012 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 107588012 107588012 T G SNP ABCA1 ENST00000374736 human ensembl 69_37n -1 known missense c.2494 p.T832P 0.324 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 198 1 0.50 137 20 12.66 - - - ABCA12 0 genome.wustl.edu 37 2 216002878 216002878 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 216002878 216002878 A C SNP ABCA12 ENST00000272895 human ensembl 69_37n -1 known silent c.54 p.G18 0.999 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 342 1 0.29 205 62 23.22 - - - ABCA12 0 genome.wustl.edu 37 2 216002897 216002897 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 216002897 216002897 A C SNP ABCA12 ENST00000272895 human ensembl 69_37n -1 known missense c.35 p.V12G 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 346 0 0.00 219 32 12.65 - - - ABCA4 0 genome.wustl.edu 37 1 94543384 94543384 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 94543384 94543384 A C SNP ABCA4 ENST00000370225 human ensembl 69_37n -1 known silent c.1416 p.G472 0.007 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 471 4 0.84 252 54 17.53 - - - ABCA4 0 genome.wustl.edu 37 1 94543393 94543393 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 94543393 94543393 A C SNP ABCA4 ENST00000370225 human ensembl 69_37n -1 known silent c.1407 p.G469 0.996 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 464 2 0.43 254 49 16.07 - - - ABCA6 0 genome.wustl.edu 37 17 67079433 67079433 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 67079433 67079433 A C SNP ABCA6 ENST00000284425 human ensembl 69_37n -1 known silent c.4395 p.G1465 0.021 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 266 2 0.75 175 30 14.56 - - - ABCA6 0 genome.wustl.edu 37 17 67080464 67080464 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 67080464 67080464 T G SNP ABCA6 ENST00000284425 human ensembl 69_37n -1 known silent c.4293 p.S1431 0.180 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 552 1 0.18 435 81 15.64 - - - ABCA9 0 genome.wustl.edu 37 17 67022599 67022599 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 67022599 67022599 A C SNP ABCA9 ENST00000340001 human ensembl 69_37n -1 known missense c.2060 p.V687G 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 357 0 0.00 218 72 24.83 - - - ABCA9 0 genome.wustl.edu 37 17 67041460 67041460 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 67041460 67041460 A C SNP ABCA9 ENST00000340001 human ensembl 69_37n -1 known missense c.322 p.W108G 0.586 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 168 0 0.00 134 30 18.29 - - - ABCB1 0 genome.wustl.edu 37 7 87183121 87183121 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 87183121 87183121 T G SNP ABCB1 ENST00000265724 human ensembl 69_37n -1 known missense c.955 p.T319P 0.327 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 411 1 0.24 303 35 10.32 - - - ABCB4 0 genome.wustl.edu 37 7 87037429 87037429 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 87037429 87037429 A C SNP ABCB4 ENST00000265723 human ensembl 69_37n -1 known missense c.3203 p.V1068G 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ENSG00000005471 199 2 1.00 204 35 14.58 - - - ABCB7 0 genome.wustl.edu 37 X 74289282 74289282 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 74289282 74289282 A C SNP ABCB7 ENST00000253577 human ensembl 69_37n -1 known missense c.1376 p.V459G 0.012 superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB7 HGNC ENSG00000131269 152 1 0.65 117 19 13.97 - - - ABCC10 0 genome.wustl.edu 37 6 43413383 43413383 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 43413383 43413383 A C SNP ABCC10 ENST00000372530 human ensembl 69_37n +1 known missense c.3077 p.N1026T 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ENSG00000124574 109 0 0.00 91 17 15.74 - - - ABCC11 0 genome.wustl.edu 37 16 48265807 48265807 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 48265807 48265807 A C SNP ABCC11 ENST00000356608 human ensembl 69_37n -1 known missense c.26 p.V9G 0.077 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC11 HGNC ENSG00000121270 276 0 0.00 199 25 11.16 - - - ABCC12 0 genome.wustl.edu 37 16 48175229 48175229 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 48175229 48175229 A C SNP ABCC12 ENST00000311303 human ensembl 69_37n -1 known missense c.311 p.V104G 0.556 superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ENSG00000140798 99 0 0.00 106 24 18.32 - - - ABCC12 0 genome.wustl.edu 37 16 48177908 48177908 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 48177908 48177908 A C SNP ABCC12 ENST00000311303 human ensembl 69_37n -1 known missense c.188 p.V63G 0.976 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ENSG00000140798 124 0 0.00 141 21 12.96 - - - ABCC3 0 genome.wustl.edu 37 17 48735473 48735473 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 48735473 48735473 A C SNP ABCC3 ENST00000285238 human ensembl 69_37n +1 known missense c.517 p.T173P 1.000 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 135 0 0.00 86 15 14.71 - - - ABCC3 0 genome.wustl.edu 37 17 48755175 48755175 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 48755175 48755175 A C SNP ABCC3 ENST00000285238 human ensembl 69_37n +1 known missense c.3449 p.H1150P 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 209 2 0.95 222 43 16.10 - - - ABCC9 0 genome.wustl.edu 37 12 22035767 22035767 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 22035767 22035767 T G SNP ABCC9 ENST00000261200 human ensembl 69_37n -1 known missense c.1952 p.H651P 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC9 HGNC ENSG00000069431 297 1 0.34 213 25 10.50 - - - ABCD2 0 genome.wustl.edu 37 12 40001488 40001488 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 40001488 40001488 A C SNP ABCD2 ENST00000308666 human ensembl 69_37n -1 known missense c.1149 p.S383R 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCD2 HGNC ENSG00000173208 111 1 0.89 69 18 20.69 - - - ABCF1 0 genome.wustl.edu 37 6 30558154 30558154 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 30558154 30558154 T G SNP ABCF1 ENST00000475993 human ensembl 69_37n +1 known missense c.1621 p.C541G 0.921 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ABCF1 HGNC ENSG00000204574 258 0 0.00 190 42 17.95 - - - ABCF3 0 genome.wustl.edu 37 3 183906772 183906772 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 183906772 183906772 A C SNP ABCF3 ENST00000429586 human ensembl 69_37n +1 known missense c.973 p.T325P 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ENSG00000161204 89 0 0.00 120 23 15.86 - - - ABCG4 0 genome.wustl.edu 37 11 119029277 119029277 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 119029277 119029277 A C SNP ABCG4 ENST00000307417 human ensembl 69_37n +1 known missense c.1178 p.H393P 1.000 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG4 HGNC ENSG00000172350 163 1 0.61 129 23 15.13 - - - ABCG4 0 genome.wustl.edu 37 11 119031329 119031329 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 119031329 119031329 A C SNP ABCG4 ENST00000307417 human ensembl 69_37n +1 known missense c.1678 p.T560P 0.999 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG4 HGNC ENSG00000172350 197 1 0.51 139 25 15.24 - - - ABL2 0 genome.wustl.edu 37 1 179081525 179081525 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 179081525 179081525 A C SNP ABL2 ENST00000502732 human ensembl 69_37n -1 known missense c.1570 p.W524G 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 61 0 0.00 109 22 16.79 - - - ABLIM3 0 genome.wustl.edu 37 5 148577935 148577935 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 148577935 148577935 A C SNP ABLIM3 ENST00000309868 human ensembl 69_37n +1 known missense c.305 p.H102P 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM3 HGNC ENSG00000173210 83 0 0.00 404 145 26.17 - - - ABR 0 genome.wustl.edu 37 17 1003974 1003974 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 1003974 1003974 A C SNP ABR ENST00000302538 human ensembl 69_37n -1 known missense c.248 p.V83G 1.000 superfamily_DH-domain pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 72 0 0.00 54 11 16.92 - - - ACACB 0 genome.wustl.edu 37 12 109702121 109702121 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 109702121 109702121 A C SNP ACACB ENST00000338432 human ensembl 69_37n +1 known missense c.6872 p.H2291P 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 105 1 0.94 89 24 21.05 - - - ACAD10 0 genome.wustl.edu 37 12 112140024 112140024 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 112140024 112140024 T G SNP ACAD10 ENST00000455480 human ensembl 69_37n +1 known silent c.246 p.G82 0.940 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Dehalogen-like_hydro,superfamily_AcylCoA_DH/oxidase,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3 - no_errors ACAD10 HGNC ENSG00000111271 123 0 0.00 149 25 14.37 - - - ACE2 0 genome.wustl.edu 37 X 15596418 15596418 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 15596418 15596418 A C SNP ACE2 ENST00000252519 human ensembl 69_37n -1 known missense c.1091 p.V364G 0.998 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE2 HGNC ENSG00000130234 155 0 0.00 146 25 14.62 - - - ACE2 0 genome.wustl.edu 37 X 15607528 15607528 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 15607528 15607528 A C SNP ACE2 ENST00000252519 human ensembl 69_37n -1 known missense c.635 p.V212G 0.000 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE2 HGNC ENSG00000130234 390 2 0.51 358 45 11.08 - - - ACER2 0 genome.wustl.edu 37 9 19434959 19434959 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 19434959 19434959 T G SNP ACER2 ENST00000340967 human ensembl 69_37n +1 known missense c.380 p.V127G 0.169 pfam_Ceramidase pfam_Ceramidase - no_errors ACER2 HGNC ENSG00000177076 275 0 0.00 162 24 12.83 - - - ACIN1 0 genome.wustl.edu 37 14 23533682 23533682 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 23533682 23533682 A C SNP ACIN1 ENST00000262710 human ensembl 69_37n -1 known missense c.2498 p.V833G 0.968 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ENSG00000100813 102 1 0.97 139 35 19.89 - - - ACLY 0 genome.wustl.edu 37 17 40062867 40062867 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 40062867 40062867 A C SNP ACLY ENST00000352035 human ensembl 69_37n -1 known missense c.780 p.S260R 1.000 superfamily_Succinyl-CoA_synth-like,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 154 0 0.00 222 26 10.28 - - - ACO1 0 genome.wustl.edu 37 9 32418390 32418390 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 32418390 32418390 T G SNP ACO1 ENST00000309951 human ensembl 69_37n +1 known missense c.539 p.V180G 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 174 1 0.57 156 24 13.33 - - - ACOT2 0 genome.wustl.edu 37 14 74042138 74042138 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 74042138 74042138 T G SNP ACOT2 ENST00000238651 human ensembl 69_37n +1 known missense c.1373 p.V458G 0.975 pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT2 HGNC ENSG00000119673 73 0 0.00 38 15 27.78 - - - ACOX1 0 genome.wustl.edu 37 17 73946910 73946910 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 73946910 73946910 T G SNP ACOX1 ENST00000293217 human ensembl 69_37n -1 known missense c.1243 p.T415P 1.000 superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ENSG00000161533 46 0 0.00 60 13 17.81 - - - ACOX2 0 genome.wustl.edu 37 3 58519184 58519184 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 58519184 58519184 A C SNP ACOX2 ENST00000302819 human ensembl 69_37n -1 known missense c.571 p.W191G 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 102 0 0.00 104 23 17.97 - - - ACP6 0 genome.wustl.edu 37 1 147126385 147126385 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 147126385 147126385 A C SNP ACP6 ENST00000369238 human ensembl 69_37n -1 known missense c.704 p.V235G 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACP6 HGNC ENSG00000162836 138 0 0.00 120 21 14.89 - - - ACSL5 0 genome.wustl.edu 37 10 114154737 114154737 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 114154737 114154737 A C SNP ACSL5 ENST00000356116 human ensembl 69_37n +1 known silent c.201 p.P67 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 351 1 0.28 281 39 12.19 - - - ACSL5 0 genome.wustl.edu 37 10 114154801 114154801 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 114154801 114154801 A C SNP ACSL5 ENST00000356116 human ensembl 69_37n +1 known missense c.265 p.T89P 0.960 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 247 0 0.00 223 28 11.16 - - - ACSM1 0 genome.wustl.edu 37 16 20635536 20635536 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 20635536 20635536 A C SNP ACSM1 ENST00000307493 human ensembl 69_37n -1 known missense c.1529 p.V510G 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM1 HGNC ENSG00000166743 412 0 0.00 489 67 12.01 - - - ACSM3 0 genome.wustl.edu 37 16 20803602 20803602 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 20803602 20803602 A C SNP ACSM3 ENST00000289416 human ensembl 69_37n +1 known missense c.1499 p.H500P 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM3 HGNC ENSG00000005187 232 1 0.43 201 41 16.87 - - - ACTRT1 0 genome.wustl.edu 37 X 127185211 127185211 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 127185211 127185211 A C SNP ACTRT1 ENST00000371124 human ensembl 69_37n -1 known silent c.975 p.G325 0.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTRT1 HGNC ENSG00000123165 435 3 0.68 280 35 11.04 - - - ACTRT1 0 genome.wustl.edu 37 X 127185609 127185609 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 127185609 127185609 T G SNP ACTRT1 ENST00000371124 human ensembl 69_37n -1 known missense c.577 p.T193P 0.864 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTRT1 HGNC ENSG00000123165 392 1 0.25 255 33 11.46 - - - ACVR1C 0 genome.wustl.edu 37 2 158406837 158406837 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 158406837 158406837 A C SNP ACVR1C ENST00000243349 human ensembl 69_37n -1 known silent c.612 p.G204 0.487 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1C HGNC ENSG00000123612 141 0 0.00 164 24 12.77 - - - ADAM10 0 genome.wustl.edu 37 15 58913777 58913777 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 58913777 58913777 A C SNP ADAM10 ENST00000260408 human ensembl 69_37n -1 known silent c.1404 p.G468 0.954 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM10 HGNC ENSG00000137845 273 1 0.36 231 35 13.16 - - - ADAM12 0 genome.wustl.edu 37 10 127760149 127760149 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 127760149 127760149 A C SNP ADAM12 ENST00000368679 human ensembl 69_37n -1 known missense c.1229 p.V410G 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM12 HGNC ENSG00000148848 300 3 0.99 243 66 21.36 - - - ADAM12 0 genome.wustl.edu 37 10 127824027 127824027 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 127824027 127824027 T G SNP ADAM12 ENST00000494661 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ADAM12 HGNC ENSG00000148848 29 0 0.00 24 7 22.58 - - - ADAM20 0 genome.wustl.edu 37 14 70990360 70990360 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 70990360 70990360 A C SNP ADAM20 ENST00000256389 human ensembl 69_37n -1 known missense c.1265 p.V422G 0.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 333 1 0.30 207 31 13.03 - - - ADAM20 0 genome.wustl.edu 37 14 70991525 70991525 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 70991525 70991525 T G SNP ADAM20 ENST00000256389 human ensembl 69_37n -1 known missense c.100 p.T34P 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 312 1 0.32 188 27 12.56 - - - ADAM28 0 genome.wustl.edu 37 8 24199144 24199144 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 24199144 24199144 T G SNP ADAM28 ENST00000521629 human ensembl 69_37n +1 novel missense c.601 p.W201G 0.994 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,prints_Blood-coag_inhib_Disintegrin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ADAM28 HGNC ENSG00000042980 410 0 0.00 238 27 10.19 - - - ADAMDEC1 0 genome.wustl.edu 37 8 24242054 24242054 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 24242054 24242054 A C SNP ADAMDEC1 ENST00000256412 human ensembl 69_37n +1 known missense c.37 p.T13P 0.848 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 60 0 0.00 64 12 15.79 - - - ADAMTS1 0 genome.wustl.edu 37 21 28212006 28212006 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 28212006 28212006 A C SNP ADAMTS1 ENST00000284984 human ensembl 69_37n -1 known missense c.1928 p.V643G 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 135 0 0.00 120 26 17.69 - - - ADAMTS12 0 genome.wustl.edu 37 5 33561148 33561148 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 33561148 33561148 A C SNP ADAMTS12 ENST00000504830 human ensembl 69_37n -1 known missense c.4109 p.V1370G 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 254 1 0.39 218 48 17.91 - - - ADAMTS12 0 genome.wustl.edu 37 5 33576498 33576498 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 33576498 33576498 T G SNP ADAMTS12 ENST00000504830 human ensembl 69_37n -1 known silent c.3633 p.P1211 0.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 266 0 0.00 213 28 11.62 - - - ADAMTS12 0 genome.wustl.edu 37 5 33577083 33577083 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 33577083 33577083 T G SNP ADAMTS12 ENST00000504830 human ensembl 69_37n -1 known silent c.3048 p.P1016 0.001 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 286 0 0.00 220 32 12.70 - - - ADAMTS16 0 genome.wustl.edu 37 5 5303709 5303709 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 5303709 5303709 T G SNP ADAMTS16 ENST00000274181 human ensembl 69_37n +1 known missense c.3016 p.W1006G 0.781 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 52 0 0.00 47 13 21.31 - - - ADAMTS16 0 genome.wustl.edu 37 5 5306829 5306829 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 5306829 5306829 A C SNP ADAMTS16 ENST00000274181 human ensembl 69_37n +1 known silent c.3399 p.S1133 0.081 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 20 0 0.00 19 9 32.14 - - - ADAMTS18 0 genome.wustl.edu 37 16 77355034 77355034 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 77355034 77355034 A C SNP ADAMTS18 ENST00000282849 human ensembl 69_37n -1 known silent c.2229 p.G743 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 123 1 0.81 88 17 16.19 - - - ADAMTS3 0 genome.wustl.edu 37 4 73414352 73414352 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 73414352 73414352 A C SNP ADAMTS3 ENST00000286657 human ensembl 69_37n -1 known missense c.347 p.V116G 0.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC ENSG00000156140 245 0 0.00 154 19 10.92 - - - ADAMTS4 0 genome.wustl.edu 37 1 161168058 161168058 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 161168058 161168058 A C SNP ADAMTS4 ENST00000367996 human ensembl 69_37n -1 known silent c.360 p.G120 0.134 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ENSG00000158859 64 0 0.00 95 21 17.80 - - - ADAMTS5 0 genome.wustl.edu 37 21 28338451 28338451 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 28338451 28338451 A C SNP ADAMTS5 ENST00000284987 human ensembl 69_37n -1 known missense c.260 p.V87G 1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 42 0 0.00 17 15 46.88 - - - ADAMTS9 0 genome.wustl.edu 37 3 64635407 64635407 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 64635407 64635407 T G SNP ADAMTS9 ENST00000498707 human ensembl 69_37n -1 known missense c.1511 p.Y504S 1.000 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS9 HGNC ENSG00000163638 116 0 0.00 82 18 17.65 - - - ADAMTSL3 0 genome.wustl.edu 37 15 84651754 84651754 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 84651754 84651754 T G SNP ADAMTSL3 ENST00000286744 human ensembl 69_37n +1 known missense c.3374 p.V1125G 0.996 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 107 0 0.00 135 21 13.46 - - - ADARB1 0 genome.wustl.edu 37 21 46596071 46596071 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 46596071 46596071 A C SNP ADARB1 ENST00000360697 human ensembl 69_37n +1 known missense c.455 p.H152P 1.000 NULL pfam_A_deamin,pfam_Ds-RNA-bd,superfamily_Cytokine_IL1-like,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 103 1 0.96 110 18 13.95 - - - ADC 0 genome.wustl.edu 37 1 33585763 33585763 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 33585763 33585763 A C SNP ADC ENST00000373441 human ensembl 69_37n +1 known missense c.1423 p.T475P 1.000 NULL pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ADC HGNC ENSG00000142920 118 1 0.83 115 23 16.55 - - - ADCK1 0 genome.wustl.edu 37 14 78390810 78390810 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 78390810 78390810 A C SNP ADCK1 ENST00000238561 human ensembl 69_37n +1 known missense c.869 p.H290P 0.893 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 73 0 0.00 31 11 26.19 - - - ADCYAP1R1 0 genome.wustl.edu 37 7 31102897 31102897 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 31102897 31102897 A C SNP ADCYAP1R1 ENST00000304166 human ensembl 69_37n +1 known missense c.17 p.H6P 0.004 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 36 0 0.00 43 7 14.00 - - - ADD1 0 genome.wustl.edu 37 4 2929942 2929942 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 2929942 2929942 A C SNP ADD1 ENST00000264758 human ensembl 69_37n +1 known missense c.1999 p.T667P 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 186 1 0.53 131 27 17.09 - - - ADIPOR1 0 genome.wustl.edu 37 1 202920125 202920125 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 202920125 202920125 A C SNP ADIPOR1 ENST00000340990 human ensembl 69_37n -1 known missense c.74 p.V25G 1.000 NULL pfam_HlyIII-related - no_errors ADIPOR1 HGNC ENSG00000159346 155 0 0.00 230 42 15.38 - - - ADK 0 genome.wustl.edu 37 10 76468174 76468174 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 76468174 76468174 A C SNP ADK ENST00000286621 human ensembl 69_37n +1 known missense c.1060 p.T354P 1.000 pfam_PfkB pfam_PfkB,prints_Adenokinase - no_errors ADK HGNC ENSG00000156110 145 1 0.68 90 26 22.41 - - - ADRA1A 0 genome.wustl.edu 37 8 26627985 26627985 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 26627985 26627985 T G SNP ADRA1A ENST00000380586 human ensembl 69_37n -1 known missense c.1082 p.H361P 0.991 prints_Adrene_rcpt_A1Cs pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adrene_rcpt_A1Cs,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC ENSG00000120907 375 1 0.27 265 49 15.61 - - - ADTRP 0 genome.wustl.edu 37 6 11778866 11778866 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 11778866 11778866 A C SNP ADTRP ENST00000379413 human ensembl 69_37n -1 known missense c.127 p.W43G 0.940 pfam_Far-17a_AIG1 pfam_Far-17a_AIG1 - no_errors ADTRP HGNC ENSG00000111863 445 1 0.22 199 36 15.25 - - - ADTRP 0 genome.wustl.edu 37 6 11778898 11778898 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 11778898 11778898 A C SNP ADTRP ENST00000379413 human ensembl 69_37n -1 known missense c.95 p.V32G 0.000 pfam_Far-17a_AIG1 pfam_Far-17a_AIG1 - no_errors ADTRP HGNC ENSG00000111863 405 1 0.25 195 26 11.76 - - - AEBP1 0 genome.wustl.edu 37 7 44153649 44153649 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 44153649 44153649 T G SNP AEBP1 ENST00000223357 human ensembl 69_37n +1 known missense c.3266 p.V1089G 0.986 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 27 0 0.00 21 10 31.25 - - - AEBP2 0 genome.wustl.edu 37 12 19653050 19653050 + Silent SNP C C T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 19653050 19653050 C T SNP AEBP2 ENST00000398864 human ensembl 69_37n +1 known silent c.1194 p.F398 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors AEBP2 HGNC ENSG00000139154 33 0 0.00 26 7 21.21 - - - AFF1 0 genome.wustl.edu 37 4 87968167 87968167 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 87968167 87968167 A C SNP AFF1 ENST00000395146 human ensembl 69_37n +1 known silent c.480 p.P160 0.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 201 1 0.50 224 36 13.85 - - - AFF1 0 genome.wustl.edu 37 4 87968533 87968533 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 87968533 87968533 A C SNP AFF1 ENST00000395146 human ensembl 69_37n +1 known silent c.846 p.P282 0.927 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 373 3 0.79 391 50 11.26 - - - AFF2 0 genome.wustl.edu 37 X 147743620 147743620 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 147743620 147743620 A C SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known silent c.372 p.P124 0.824 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 879 1 0.11 642 74 10.29 - - - AFF2 0 genome.wustl.edu 37 X 147744061 147744061 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 147744061 147744061 A C SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known silent c.813 p.P271 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 398 1 0.25 333 38 10.16 - - - AFF2 0 genome.wustl.edu 37 X 148039953 148039953 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 148039953 148039953 A C SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known silent c.2655 p.S885 0.998 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 332 0 0.00 240 58 19.33 - - - AFF2 0 genome.wustl.edu 37 X 148039962 148039962 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 148039962 148039962 A C SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known silent c.2664 p.P888 0.972 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 335 1 0.30 238 61 20.33 - - - AFF4 0 genome.wustl.edu 37 5 132270040 132270040 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 132270040 132270040 T G SNP AFF4 ENST00000265343 human ensembl 69_37n -1 known silent c.717 p.P239 0.966 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 142 0 0.00 113 27 19.29 - - - AGAP11 0 genome.wustl.edu 37 10 88768706 88768706 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 88768706 88768706 A C SNP AGAP11 ENST00000433214 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors AGAP11 HGNC ENSG00000151303 200 2 0.98 147 33 18.33 - - - AGAP11 0 genome.wustl.edu 37 10 88768905 88768905 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 88768905 88768905 T G SNP AGAP11 ENST00000444431 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors AGAP11 HGNC ENSG00000151303 177 1 0.56 151 21 12.07 - - - AGBL1 0 genome.wustl.edu 37 15 86808029 86808029 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 86808029 86808029 A C SNP AGBL1 ENST00000441037 human ensembl 69_37n +1 known missense c.1489 p.T497P 0.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 156 0 0.00 105 46 30.26 - - - AGBL1 0 genome.wustl.edu 37 15 86808032 86808032 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 86808032 86808032 A C SNP AGBL1 ENST00000441037 human ensembl 69_37n +1 known missense c.1492 p.T498P 0.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 159 0 0.00 109 49 30.43 - - - AGBL5 0 genome.wustl.edu 37 2 27276397 27276397 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 27276397 27276397 A C SNP AGBL5 ENST00000360131 human ensembl 69_37n +1 known missense c.343 p.T115P 0.693 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 75 0 0.00 47 15 24.19 - - - AGRN 0 genome.wustl.edu 37 1 982714 982715 + Frame_Shift_Ins INS - - T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 982714 982715 - T INS AGRN ENST00000379370 human ensembl 69_37n +1 known frame_shift_ins c.3396_3397 p.V1132fs 0.964:0.814 pfam_SEA,smart_SEA,pfscan_SEA pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EGF-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EGF-like,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA - no_errors AGRN HGNC ENSG00000188157 9 0 0.00 4 3 42.86 - - - AGTPBP1 0 genome.wustl.edu 37 9 88207586 88207586 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 88207586 88207586 A C SNP AGTPBP1 ENST00000376109 human ensembl 69_37n -1 known silent c.2493 p.G831 0.985 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 293 0 0.00 228 28 10.94 - - - AHNAK 0 genome.wustl.edu 37 11 62285137 62285137 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62285137 62285137 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known silent c.16752 p.G5584 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 379 2 0.52 268 30 10.03 - - - AHNAK 0 genome.wustl.edu 37 11 62285314 62285314 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62285314 62285314 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known silent c.16575 p.G5525 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 310 0 0.00 201 40 16.60 - - - AHNAK 0 genome.wustl.edu 37 11 62287541 62287541 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62287541 62287541 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.14348 p.V4783G 0.998 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 408 1 0.24 201 28 12.12 - - - AHNAK 0 genome.wustl.edu 37 11 62289218 62289218 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62289218 62289218 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.12671 p.V4224G 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 456 4 0.86 245 35 12.46 - - - AHNAK 0 genome.wustl.edu 37 11 62289701 62289701 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62289701 62289701 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.12188 p.V4063G 0.487 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 352 1 0.28 165 29 14.87 - - - AHNAK 0 genome.wustl.edu 37 11 62290148 62290148 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62290148 62290148 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.11741 p.V3914G 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 407 1 0.24 193 24 11.06 - - - AHNAK 0 genome.wustl.edu 37 11 62290189 62290189 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62290189 62290189 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known silent c.11700 p.G3900 0.997 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 396 2 0.50 194 29 13.00 - - - AHNAK 0 genome.wustl.edu 37 11 62290469 62290469 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62290469 62290469 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.11420 p.V3807G 0.957 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 392 3 0.76 219 39 15.06 - - - AHNAK 0 genome.wustl.edu 37 11 62292535 62292535 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62292535 62292535 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known silent c.9354 p.G3118 0.972 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 373 2 0.53 201 33 14.04 - - - AHNAK 0 genome.wustl.edu 37 11 62292568 62292568 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62292568 62292568 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known silent c.9321 p.G3107 0.011 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 371 0 0.00 198 23 10.31 - - - AHNAK 0 genome.wustl.edu 37 11 62292919 62292919 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62292919 62292919 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known silent c.8970 p.G2990 0.466 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 265 1 0.38 161 27 14.36 - - - AHNAK 0 genome.wustl.edu 37 11 62293310 62293310 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62293310 62293310 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.8579 p.V2860G 0.004 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 239 0 0.00 140 30 17.65 - - - AHNAK 0 genome.wustl.edu 37 11 62294071 62294071 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62294071 62294071 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known silent c.7818 p.G2606 0.103 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 273 1 0.36 163 33 16.84 - - - AHNAK 0 genome.wustl.edu 37 11 62295256 62295256 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62295256 62295256 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known silent c.6633 p.G2211 0.980 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 369 0 0.00 235 43 15.36 - - - AHNAK 0 genome.wustl.edu 37 11 62295263 62295263 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62295263 62295263 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.6626 p.V2209G 0.135 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 349 1 0.28 246 39 13.54 - - - AHNAK 0 genome.wustl.edu 37 11 62296856 62296856 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62296856 62296856 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.5033 p.V1678G 0.993 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 259 0 0.00 165 28 14.43 - - - AHNAK 0 genome.wustl.edu 37 11 62297351 62297351 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62297351 62297351 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.4538 p.V1513G 0.242 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 246 0 0.00 162 23 12.23 - - - AHNAK 0 genome.wustl.edu 37 11 62297839 62297839 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62297839 62297839 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known silent c.4050 p.G1350 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 261 1 0.38 151 23 13.22 - - - AHNAK 0 genome.wustl.edu 37 11 62298223 62298223 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62298223 62298223 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known silent c.3666 p.G1222 0.998 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 276 1 0.36 195 30 13.27 - - - AHNAK 0 genome.wustl.edu 37 11 62298452 62298452 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62298452 62298452 A C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.3437 p.V1146G 0.984 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 150 0 0.00 107 20 15.75 - - - AHNAK2 0 genome.wustl.edu 37 14 105408544 105408544 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 105408544 105408544 A C SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.13244 p.V4415G 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 66 0 0.00 43 18 29.51 - - - AHNAK2 0 genome.wustl.edu 37 14 105410617 105410617 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 105410617 105410617 A C SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.11171 p.V3724G 0.370 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 76 0 0.00 34 12 26.09 - - - AHSG 0 genome.wustl.edu 37 3 186338544 186338544 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 186338544 186338544 A C SNP AHSG ENST00000411641 human ensembl 69_37n +1 known missense c.929 p.H310P 0.016 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors AHSG HGNC ENSG00000145192 219 1 0.45 189 33 14.54 - - - AIG1 0 genome.wustl.edu 37 6 143654457 143654457 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 143654457 143654457 A C SNP AIG1 ENST00000275235 human ensembl 69_37n +1 known missense c.554 p.Y185S 1.000 pfam_Far-17a_AIG1 pfam_Far-17a_AIG1 - no_errors AIG1 HGNC ENSG00000146416 266 0 0.00 217 33 13.20 - - - AIM1 0 genome.wustl.edu 37 6 106987279 106987279 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 106987279 106987279 T G SNP AIM1 ENST00000369066 human ensembl 69_37n +1 known missense c.3496 p.W1166G 0.997 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 188 0 0.00 134 23 14.65 - - - AKAP1 0 genome.wustl.edu 37 17 55184327 55184327 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 55184327 55184327 T G SNP AKAP1 ENST00000337714 human ensembl 69_37n +1 known missense c.1502 p.V501G 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 101 0 0.00 142 19 11.80 - - - AKAP12 0 genome.wustl.edu 37 6 151670797 151670797 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 151670797 151670797 T G SNP AKAP12 ENST00000253332 human ensembl 69_37n +1 known missense c.1271 p.V424G 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 112 0 0.00 86 13 13.13 - - - AKAP12 0 genome.wustl.edu 37 6 151670917 151670917 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 151670917 151670917 T G SNP AKAP12 ENST00000253332 human ensembl 69_37n +1 known missense c.1391 p.V464G 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 123 1 0.81 130 22 14.47 - - - AKAP12 0 genome.wustl.edu 37 6 151670989 151670989 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 151670989 151670989 T G SNP AKAP12 ENST00000253332 human ensembl 69_37n +1 known missense c.1463 p.V488G 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 147 1 0.67 140 24 14.63 - - - AKAP12 0 genome.wustl.edu 37 6 151671392 151671392 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 151671392 151671392 T G SNP AKAP12 ENST00000253332 human ensembl 69_37n +1 known silent c.1866 p.R622 0.000 pfam_Pkinase-A_anch_WSK-motif pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 100 0 0.00 82 15 15.31 - - - AKAP12 0 genome.wustl.edu 37 6 151673014 151673014 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 151673014 151673014 T G SNP AKAP12 ENST00000253332 human ensembl 69_37n +1 known missense c.3488 p.V1163G 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 205 0 0.00 138 34 19.65 - - - AKAP13 0 genome.wustl.edu 37 15 86123572 86123572 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 86123572 86123572 T G SNP AKAP13 ENST00000361243 human ensembl 69_37n +1 known missense c.2273 p.V758G 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 212 0 0.00 160 22 12.09 - - - AKAP13 0 genome.wustl.edu 37 15 86124248 86124248 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 86124248 86124248 A C SNP AKAP13 ENST00000361243 human ensembl 69_37n +1 known silent c.2949 p.S983 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 170 1 0.58 117 19 13.97 - - - AKAP4 0 genome.wustl.edu 37 X 49959104 49959104 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 49959104 49959104 A C SNP AKAP4 ENST00000480926 human ensembl 69_37n -1 known rna NULL NULL 0.075 - - - no_errors AKAP4 HGNC ENSG00000147081 67 0 0.00 32 17 34.69 - - - AKAP5 0 genome.wustl.edu 37 14 64935421 64935421 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 64935421 64935421 T G SNP AKAP5 ENST00000320636 human ensembl 69_37n +1 known silent c.309 p.G103 0.004 NULL pfam_Pkinase-A_anch_WSK-motif - no_errors AKAP5 HGNC ENSG00000179841 124 1 0.80 70 19 21.35 - - - AKAP6 0 genome.wustl.edu 37 14 33015946 33015946 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 33015946 33015946 T G SNP AKAP6 ENST00000280979 human ensembl 69_37n +1 known missense c.2087 p.V696G 0.652 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 209 1 0.48 123 38 23.31 - - - AKR1B1 0 genome.wustl.edu 37 7 134136369 134136369 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 134136369 134136369 A C SNP AKR1B1 ENST00000285930 human ensembl 69_37n -1 known missense c.203 p.V68G 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B1 HGNC ENSG00000085662 81 0 0.00 75 15 16.67 - - - AKR1B10 0 genome.wustl.edu 37 7 134221418 134221418 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 134221418 134221418 T G SNP AKR1B10 ENST00000359579 human ensembl 69_37n +1 known missense c.446 p.V149G 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B10 HGNC ENSG00000198074 117 1 0.85 72 20 21.74 - - - AKR1CL1 0 genome.wustl.edu 37 10 5204824 5204824 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 5204824 5204824 T G SNP AKR1CL1 ENST00000334314 human ensembl 69_37n -1 known missense c.253 p.T85P 0.292 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1CL1 HGNC ENSG00000196326 283 0 0.00 237 36 13.19 - - - ALAS1 0 genome.wustl.edu 37 3 52240018 52240018 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 52240018 52240018 A C SNP ALAS1 ENST00000310271 human ensembl 69_37n +1 known missense c.964 p.T322P 1.000 pfam_Aminotransferase_I/II,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS1 HGNC ENSG00000023330 133 0 0.00 117 27 18.75 - - - ALAS1 0 genome.wustl.edu 37 3 52242155 52242155 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 52242155 52242155 A C SNP ALAS1 ENST00000310271 human ensembl 69_37n +1 known missense c.1222 p.T408P 1.000 pfam_Aminotransferase_I/II,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS1 HGNC ENSG00000023330 112 1 0.88 101 21 17.07 - - - ALAS1 0 genome.wustl.edu 37 3 52246404 52246404 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 52246404 52246404 A C SNP ALAS1 ENST00000310271 human ensembl 69_37n +1 known missense c.1730 p.H577P 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS1 HGNC ENSG00000023330 454 2 0.44 561 75 11.79 - - - ALDH1L1 0 genome.wustl.edu 37 3 125879694 125879694 + Splice_Site SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 125879694 125879694 A C SNP ALDH1L1 ENST00000393434 human ensembl 69_37n -1 known splice_site c.127+2 e1+2 1.000 - - - no_errors ALDH1L1 HGNC ENSG00000144908 46 0 0 39 11 22 - - - ALDH4A1 0 genome.wustl.edu 37 1 19201049 19201049 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 19201049 19201049 A C SNP ALDH4A1 ENST00000290597 human ensembl 69_37n -1 known missense c.1487 p.V496G 0.772 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Delta1-pyrroline-5-COlate_DH-1 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Delta1-pyrroline-5-COlate_DH-1 - no_errors ALDH4A1 HGNC ENSG00000159423 82 0 0.00 77 18 18.95 - - - ALG13 0 genome.wustl.edu 37 X 110970143 110970143 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 110970143 110970143 A C SNP ALG13 ENST00000251943 human ensembl 69_37n +1 known silent c.1524 p.P508 0.280 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 436 2 0.46 295 49 14.20 - - - ALMS1 0 genome.wustl.edu 37 2 73678978 73678978 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 73678978 73678978 A G SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known missense c.5321 p.D1774G 0.031 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 221 0 0.00 185 23 11.00 - - - ALMS1 0 genome.wustl.edu 37 2 73717232 73717232 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 73717232 73717232 A C SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known missense c.8143 p.T2715P 0.999 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 472 2 0.42 327 41 11.02 - - - ALMS1 0 genome.wustl.edu 37 2 73799858 73799858 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 73799858 73799858 T G SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known silent c.10851 p.G3617 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 311 2 0.64 144 29 16.76 - - - ALMS1 0 genome.wustl.edu 37 2 73799881 73799881 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 73799881 73799881 T G SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known missense c.10874 p.V3625G 1.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 325 1 0.31 164 23 12.11 - - - ALOX12 0 genome.wustl.edu 37 17 6903731 6903731 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 6903731 6903731 A C SNP ALOX12 ENST00000251535 human ensembl 69_37n +1 known missense c.884 p.Y295S 1.000 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2 - no_errors ALOX12 HGNC ENSG00000108839 361 2 0.55 302 35 10.26 - - - ALOX12 0 genome.wustl.edu 37 17 6904980 6904980 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 6904980 6904980 A C SNP ALOX12 ENST00000251535 human ensembl 69_37n +1 known silent c.1011 p.P337 0.862 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2 - no_errors ALOX12 HGNC ENSG00000108839 466 4 0.85 299 35 10.42 - - - ALOX12 0 genome.wustl.edu 37 17 6908615 6908615 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 6908615 6908615 A C SNP ALOX12 ENST00000251535 human ensembl 69_37n +1 known missense c.1201 p.T401P 0.842 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2 - no_errors ALOX12 HGNC ENSG00000108839 457 4 0.86 297 46 13.41 - - - ALPK1 0 genome.wustl.edu 37 4 113353097 113353097 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 113353097 113353097 A C SNP ALPK1 ENST00000177648 human ensembl 69_37n +1 known silent c.2394 p.A798 0.000 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 151 0 0.00 104 22 17.32 - - - ALPK3 0 genome.wustl.edu 37 15 85384061 85384061 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 85384061 85384061 A C SNP ALPK3 ENST00000258888 human ensembl 69_37n +1 known silent c.2157 p.P719 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ENSG00000136383 40 0 0.00 31 5 13.89 - - - ALS2 0 genome.wustl.edu 37 2 202611349 202611349 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 202611349 202611349 A C SNP ALS2 ENST00000264276 human ensembl 69_37n -1 known silent c.1938 p.G646 0.994 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,prints_Reg_chr_condens,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain - no_errors ALS2 HGNC ENSG00000003393 299 0 0.00 234 30 11.32 - - - ALS2CR12 0 genome.wustl.edu 37 2 202208912 202208912 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 202208912 202208912 T G SNP ALS2CR12 ENST00000286190 human ensembl 69_37n -1 known missense c.443 p.H148P 0.982 superfamily_t-SNARE superfamily_t-SNARE - no_errors ALS2CR12 HGNC ENSG00000155749 231 1 0.43 161 26 13.83 - - - ALS2CR8 0 genome.wustl.edu 37 2 203817332 203817332 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 203817332 203817332 A C SNP ALS2CR8 ENST00000320443 human ensembl 69_37n +1 known silent c.357 p.P119 0.999 NULL NULL - no_errors ALS2CR8 HGNC ENSG00000138380 248 0 0.00 212 42 16.54 - - - AMACR 0 genome.wustl.edu 37 5 33998840 33998840 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 33998840 33998840 A C SNP AMACR ENST00000441713 human ensembl 69_37n -1 known missense c.484 p.W162G 0.988 NULL pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 116 0 0.00 85 17 16.67 - - - AMBN 0 genome.wustl.edu 37 4 71467240 71467240 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 71467240 71467240 A C SNP AMBN ENST00000322937 human ensembl 69_37n +1 known missense c.400 p.T134P 0.000 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 315 2 0.63 257 41 13.76 - - - AMBN 0 genome.wustl.edu 37 4 71467286 71467286 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 71467286 71467286 A C SNP AMBN ENST00000322937 human ensembl 69_37n +1 known missense c.446 p.H149P 0.062 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 225 1 0.44 183 45 19.65 - - - AMHR2 0 genome.wustl.edu 37 12 53825113 53825113 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 53825113 53825113 A C SNP AMHR2 ENST00000257863 human ensembl 69_37n +1 known silent c.1578 p.P526 0.000 pirsf_Anti-muellerian_hrmn_rcpt_II pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom - no_errors AMHR2 HGNC ENSG00000135409 65 0 0.00 95 23 19.49 - - - AMICA1 0 genome.wustl.edu 37 11 118074218 118074218 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 118074218 118074218 T G SNP AMICA1 ENST00000356289 human ensembl 69_37n -1 known missense c.697 p.T233P 1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors AMICA1 HGNC ENSG00000160593 583 0 0.00 463 56 10.79 - - - AMOT 0 genome.wustl.edu 37 X 112033896 112033896 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 112033896 112033896 A C SNP AMOT ENST00000371959 human ensembl 69_37n -1 known missense c.2041 p.W681G 1.000 pfam_Angiomotin_C,prints_Angiomotin pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 718 0 0.00 640 74 10.32 - - - AMOT 0 genome.wustl.edu 37 X 112035178 112035178 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 112035178 112035178 A C SNP AMOT ENST00000371959 human ensembl 69_37n -1 known missense c.1808 p.V603G 1.000 pfam_Angiomotin_C,prints_Angiomotin pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 265 0 0.00 269 46 14.60 - - - AMOT 0 genome.wustl.edu 37 X 112058602 112058602 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 112058602 112058602 A C SNP AMOT ENST00000371959 human ensembl 69_37n -1 known missense c.1376 p.V459G 1.000 superfamily_Prefoldin pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 415 2 0.48 329 56 14.55 - - - AMOTL1 0 genome.wustl.edu 37 11 94533454 94533454 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 94533454 94533454 A C SNP AMOTL1 ENST00000433060 human ensembl 69_37n +1 known silent c.1098 p.P366 0.848 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 347 3 0.85 240 42 14.74 - - - AMPH 0 genome.wustl.edu 37 7 38429447 38429447 + Nonstop_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 38429447 38429447 A C SNP AMPH ENST00000441628 human ensembl 69_37n -1 novel nonstop c.1585 p.*529G 0.966 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Amphiphysin,prints_SH3_domain pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Amphiphysin,prints_SH3_domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AMPH HGNC ENSG00000078053 386 0 0.00 315 39 11.02 - - - AMY2B 0 genome.wustl.edu 37 1 104116940 104116940 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 104116940 104116940 T G SNP AMY2B ENST00000361355 human ensembl 69_37n +1 known missense c.803 p.V268G 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 315 1 0.32 138 44 24.18 - - - AMY2B 0 genome.wustl.edu 37 1 104120067 104120067 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 104120067 104120067 T G SNP AMY2B ENST00000481821 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors AMY2B HGNC ENSG00000240038 557 5 0.88 325 50 13.30 - - - ANAPC5 0 genome.wustl.edu 37 12 121746192 121746192 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 121746192 121746192 T G SNP ANAPC5 ENST00000543649 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ANAPC5 HGNC ENSG00000089053 25 0 0.00 30 6 16.67 - - - ANGPT4 0 genome.wustl.edu 37 20 896598 896598 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 896598 896598 A C SNP ANGPT4 ENST00000381922 human ensembl 69_37n -1 known missense c.260 p.V87G 0.146 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT4 HGNC ENSG00000101280 213 1 0.46 284 59 17.05 - - - ANGPTL5 0 genome.wustl.edu 37 11 101762073 101762073 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 101762073 101762073 T G SNP ANGPTL5 ENST00000334289 human ensembl 69_37n -1 known silent c.1104 p.S368 0.003 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL5 HGNC ENSG00000187151 346 0 0.00 239 32 11.76 - - - ANK2 0 genome.wustl.edu 37 4 114275420 114275420 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 114275420 114275420 A C SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known silent c.5646 p.S1882 0.981 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 390 3 0.76 392 76 16.14 - - - ANK3 0 genome.wustl.edu 37 10 61847992 61847992 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 61847992 61847992 A C SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known silent c.3453 p.G1151 0.837 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 131 0 0.00 135 16 10.46 - - - ANKDD1A 0 genome.wustl.edu 37 15 65235699 65235699 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 65235699 65235699 A C SNP ANKDD1A ENST00000380230 human ensembl 69_37n +1 known missense c.986 p.H329P 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,prints_Ankyrin_rpt - no_errors ANKDD1A HGNC ENSG00000166839 236 2 0.83 189 27 12.44 - - - ANKHD1 0 genome.wustl.edu 37 5 139885379 139885379 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 139885379 139885379 T G SNP ANKHD1 ENST00000246149 human ensembl 69_37n +1 novel missense c.1010 p.V337G 0.999 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ANKHD1 HGNC ENSG00000131503 206 0 0.00 190 35 15.42 - - - ANKK1 0 genome.wustl.edu 37 11 113264355 113264355 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 113264355 113264355 A C SNP ANKK1 ENST00000303941 human ensembl 69_37n +1 known missense c.338 p.H113P 0.289 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ANKK1 HGNC ENSG00000170209 57 0 0.00 48 6 10.91 - - - ANKRD11 0 genome.wustl.edu 37 16 89347944 89347944 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 89347944 89347944 T G SNP ANKRD11 ENST00000301030 human ensembl 69_37n -1 known missense c.5006 p.H1669P 0.117 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 215 1 0.46 158 30 15.96 - - - ANKRD17 0 genome.wustl.edu 37 4 73984504 73984504 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 73984504 73984504 A C SNP ANKRD17 ENST00000558247 human ensembl 69_37n -1 known missense c.3740 p.V1247G 0.968 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ANKRD17 HGNC ENSG00000132466 344 1 0.29 240 36 13.04 - - - ANKRD35 0 genome.wustl.edu 37 1 145555794 145555794 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 145555794 145555794 A C SNP ANKRD35 ENST00000355594 human ensembl 69_37n +1 known missense c.142 p.T48P 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD35 HGNC ENSG00000198483 54 0 0.00 81 14 14.74 - - - ANKRD40 0 genome.wustl.edu 37 17 48774467 48774467 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 48774467 48774467 A C SNP ANKRD40 ENST00000285243 human ensembl 69_37n -1 known missense c.794 p.V265G 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD40 HGNC ENSG00000154945 54 0 0.00 52 11 17.46 - - - ANKRD42 0 genome.wustl.edu 37 11 82938826 82938826 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 82938826 82938826 T G SNP ANKRD42 ENST00000393392 human ensembl 69_37n +1 known silent c.741 p.G247 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD42 HGNC ENSG00000137494 272 1 0.36 187 53 21.99 - - - ANKRD49 0 genome.wustl.edu 37 11 94230119 94230119 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 94230119 94230119 T G SNP ANKRD49 ENST00000302755 human ensembl 69_37n +1 known splice_site c.258+2 e1+2 1.000 - - - no_errors ANKRD49 HGNC ENSG00000168876 264 0 0.00 159 23 11.68 - - - ANKRD5 0 genome.wustl.edu 37 20 10030564 10030564 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 10030564 10030564 T G SNP ANKRD5 ENST00000378380 human ensembl 69_37n +1 known silent c.1347 p.G449 0.333 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_HAND_2,prints_Ankyrin_rpt - no_errors ANKRD5 HGNC ENSG00000132623 117 1 0.85 97 18 15.65 - - - ANKRD50 0 genome.wustl.edu 37 4 125599895 125599895 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 125599895 125599895 T G SNP ANKRD50 ENST00000504087 human ensembl 69_37n -1 known silent c.678 p.P226 0.613 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD50 HGNC ENSG00000151458 298 0 0.00 276 42 13.17 - - - ANKRD50 0 genome.wustl.edu 37 4 125599964 125599964 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 125599964 125599964 A C SNP ANKRD50 ENST00000504087 human ensembl 69_37n -1 known silent c.609 p.G203 0.019 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD50 HGNC ENSG00000151458 288 0 0.00 276 36 11.46 - - - ANKS1A 0 genome.wustl.edu 37 6 34985809 34985809 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 34985809 34985809 A C SNP ANKS1A ENST00000360359 human ensembl 69_37n +1 known silent c.1983 p.S661 0.010 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 103 1 0.95 78 25 24.27 - - - ANKS1B 0 genome.wustl.edu 37 12 99548104 99548104 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 99548104 99548104 T G SNP ANKS1B ENST00000329257 human ensembl 69_37n -1 known missense c.2489 p.H830P 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 159 0 0.00 150 27 15.25 - - - ANKS4B 0 genome.wustl.edu 37 16 21261543 21261543 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 21261543 21261543 T G SNP ANKS4B ENST00000311620 human ensembl 69_37n +1 known missense c.656 p.V219G 0.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKS4B HGNC ENSG00000175311 153 0 0.00 117 22 15.83 - - - ANO6 0 genome.wustl.edu 37 12 45742084 45742084 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 45742084 45742084 A C SNP ANO6 ENST00000425752 human ensembl 69_37n +1 known missense c.619 p.T207P 1.000 NULL pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 226 0 0.00 176 29 14.08 - - - ANXA1 0 genome.wustl.edu 37 9 75783706 75783706 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 75783706 75783706 T G SNP ANXA1 ENST00000491192 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ANXA1 HGNC ENSG00000135046 23 0 0.00 5 11 68.75 - - - AOAH 0 genome.wustl.edu 37 7 36634232 36634232 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 36634232 36634232 A C SNP AOAH ENST00000487014 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors AOAH HGNC ENSG00000136250 18 0 0.00 7 7 50.00 - - - AOC2 0 genome.wustl.edu 37 17 41002313 41002313 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 41002313 41002313 A C SNP AOC2 ENST00000253799 human ensembl 69_37n +1 known missense c.2219 p.D740A 0.078 superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 238 0 0.00 166 25 12.95 - - - AOC3 0 genome.wustl.edu 37 17 41004759 41004759 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 41004759 41004759 A C SNP AOC3 ENST00000308423 human ensembl 69_37n +1 known missense c.1399 p.T467P 0.981 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 82 0 0.00 47 9 16.07 - - - AP1B1 0 genome.wustl.edu 37 22 29755824 29755824 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 29755824 29755824 T G SNP AP1B1 ENST00000357586 human ensembl 69_37n -1 known missense c.268 p.T90P 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu - no_errors AP1B1 HGNC ENSG00000100280 70 0 0.00 39 12 23.53 - - - AP1G2 0 genome.wustl.edu 37 14 24035549 24035549 + Nonsense_Mutation SNP G G A TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 24035549 24035549 G A SNP AP1G2 ENST00000308724 human ensembl 69_37n -1 known nonsense c.409 p.R137* 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G2 HGNC ENSG00000213983 156 1 0.64 107 37 25.69 - - - AP3B1 0 genome.wustl.edu 37 5 77409707 77409707 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 77409707 77409707 A C SNP AP3B1 ENST00000255194 human ensembl 69_37n -1 known missense c.2118 p.S706R 0.485 pirsf_AP3_complex_bsu pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu - no_errors AP3B1 HGNC ENSG00000132842 192 1 0.51 187 35 15.70 - - - AP4B1-AS1 0 genome.wustl.edu 37 1 114399335 114399335 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 114399335 114399335 A C SNP AP4B1-AS1 ENST00000419536 human ensembl 69_37n +1 known rna NULL NULL 0.084 - - - no_errors AP4B1-AS1 HGNC ENSG00000226167 59 0 0.00 72 18 20.00 - - - AP5M1 0 genome.wustl.edu 37 14 57746998 57746998 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 57746998 57746998 A C SNP AP5M1 ENST00000261558 human ensembl 69_37n +1 known missense c.806 p.H269P 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C - no_errors AP5M1 HGNC ENSG00000053770 269 1 0.37 176 43 19.46 - - - APC 0 genome.wustl.edu 37 5 112154664 112154664 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 112154664 112154664 T G SNP APC ENST00000257430 human ensembl 69_37n +1 known missense c.935 p.V312G 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 193 0 0.00 141 17 10.76 - - - APOA2 0 genome.wustl.edu 37 1 161192946 161192946 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 161192946 161192946 A C SNP APOA2 ENST00000481413 human ensembl 69_37n -1 known rna NULL NULL 0.113 - - - no_errors APOA2 HGNC ENSG00000158874 40 0 0.00 92 28 22.76 - - - APOB 0 genome.wustl.edu 37 2 21231647 21231647 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 21231647 21231647 A C SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.8093 p.V2698G 0.008 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 363 1 0.27 252 28 10.00 - - - APOB 0 genome.wustl.edu 37 2 21236186 21236186 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 21236186 21236186 A C SNP APOB ENST00000233242 human ensembl 69_37n -1 known silent c.4062 p.G1354 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 248 0 0.00 155 18 10.34 - - - APOL5 0 genome.wustl.edu 37 22 36122801 36122801 + Missense_Mutation SNP G G A TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 36122801 36122801 G A SNP APOL5 ENST00000249044 human ensembl 69_37n +1 known missense c.686 p.C229Y 0.001 pfam_ApoL pfam_ApoL - no_errors APOL5 HGNC ENSG00000128313 153 0 0.00 137 16 10.46 - - - APP 0 genome.wustl.edu 37 21 27347409 27347409 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 27347409 27347409 T G SNP APP ENST00000346798 human ensembl 69_37n -1 known missense c.1432 p.T478P 0.997 superfamily_Amyloid_glyco_E2_domain pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 98 1 1.00 116 21 15.33 - - - AQP7 0 genome.wustl.edu 37 9 33385049 33385049 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 33385049 33385049 T G SNP AQP7 ENST00000297988 human ensembl 69_37n -1 known missense c.983 p.H328P 0.000 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_Aquaporin - no_errors AQP7 HGNC ENSG00000165269 209 0 0.00 147 29 16.48 - - - ARAP3 0 genome.wustl.edu 37 5 141041273 141041273 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 141041273 141041273 T G SNP ARAP3 ENST00000239440 human ensembl 69_37n -1 known missense c.3097 p.T1033P 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 143 1 0.68 101 23 18.40 - - - ARCN1 0 genome.wustl.edu 37 11 118454721 118454721 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 118454721 118454721 A C SNP ARCN1 ENST00000264028 human ensembl 69_37n +1 known silent c.645 p.A215 0.981 NULL pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ENSG00000095139 97 0 0.00 62 17 21.52 - - - ARFIP2 0 genome.wustl.edu 37 11 6501239 6501239 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 6501239 6501239 A C SNP ARFIP2 ENST00000445086 human ensembl 69_37n -1 known missense c.23 p.V8G 0.972 NULL pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom - no_errors ARFIP2 HGNC ENSG00000132254 408 2 0.49 361 53 12.77 - - - ARFIP2 0 genome.wustl.edu 37 11 6501285 6501285 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 6501285 6501285 A C SNP ARFIP2 ENST00000254584 human ensembl 69_37n -1 known missense c.113 p.V38G 1.000 NULL pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom - no_errors ARFIP2 HGNC ENSG00000132254 326 2 0.61 251 52 17.05 - - - ARG1 0 genome.wustl.edu 37 6 131904271 131904271 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 131904271 131904271 T G SNP ARG1 ENST00000356962 human ensembl 69_37n +1 known missense c.656 p.V219G 1.000 pfam_Ureohydrolase,tigrfam_Arginase pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase - no_errors ARG1 HGNC ENSG00000118520 207 1 0.48 110 24 17.78 - - - ARGFX 0 genome.wustl.edu 37 3 121305079 121305079 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 121305079 121305079 A C SNP ARGFX ENST00000334384 human ensembl 69_37n +1 known missense c.580 p.T194P 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ARGFX HGNC ENSG00000186103 243 0 0.00 337 48 12.40 - - - ARHGAP17 0 genome.wustl.edu 37 16 24975628 24975628 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 24975628 24975628 A C SNP ARHGAP17 ENST00000289968 human ensembl 69_37n -1 known missense c.463 p.W155G 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 207 0 0.00 167 23 12.11 - - - ARHGAP21 0 genome.wustl.edu 37 10 24909207 24909207 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 24909207 24909207 A C SNP ARHGAP21 ENST00000396432 human ensembl 69_37n -1 known silent c.1617 p.G539 0.111 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 303 1 0.33 264 35 11.67 - - - ARHGAP24 0 genome.wustl.edu 37 4 86916075 86916075 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 86916075 86916075 A C SNP ARHGAP24 ENST00000395184 human ensembl 69_37n +1 known missense c.1268 p.N423T 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 560 4 0.71 316 41 11.45 - - - ARHGAP24 0 genome.wustl.edu 37 4 86916536 86916536 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 86916536 86916536 A C SNP ARHGAP24 ENST00000395184 human ensembl 69_37n +1 known missense c.1729 p.T577P 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 223 2 0.89 159 29 15.26 - - - ARHGAP31 0 genome.wustl.edu 37 3 119132795 119132795 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 119132795 119132795 A C SNP ARHGAP31 ENST00000264245 human ensembl 69_37n +1 known silent c.2019 p.P673 0.325 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 554 4 0.71 367 55 13.03 - - - ARHGAP31 0 genome.wustl.edu 37 3 119133013 119133013 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 119133013 119133013 A C SNP ARHGAP31 ENST00000264245 human ensembl 69_37n +1 known missense c.2237 p.H746P 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 388 3 0.77 234 36 13.28 - - - ARHGAP31 0 genome.wustl.edu 37 3 119133490 119133490 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 119133490 119133490 T G SNP ARHGAP31 ENST00000264245 human ensembl 69_37n +1 known missense c.2714 p.V905G 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 499 0 0.00 282 49 14.76 - - - ARHGAP31 0 genome.wustl.edu 37 3 119133956 119133956 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 119133956 119133956 T G SNP ARHGAP31 ENST00000264245 human ensembl 69_37n +1 known silent c.3180 p.G1060 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 478 1 0.21 260 51 16.40 - - - ARHGAP31 0 genome.wustl.edu 37 3 119134105 119134105 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 119134105 119134105 A C SNP ARHGAP31 ENST00000264245 human ensembl 69_37n +1 known missense c.3329 p.D1110A 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 413 2 0.48 239 38 13.72 - - - ARHGAP31 0 genome.wustl.edu 37 3 119134404 119134404 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 119134404 119134404 A C SNP ARHGAP31 ENST00000264245 human ensembl 69_37n +1 known missense c.3628 p.T1210P 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 255 2 0.78 133 20 13.07 - - - ARHGAP31 0 genome.wustl.edu 37 3 119134914 119134914 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 119134914 119134914 A C SNP ARHGAP31 ENST00000264245 human ensembl 69_37n +1 known missense c.4138 p.T1380P 0.990 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 520 5 0.95 298 53 14.97 - - - ARHGAP32 0 genome.wustl.edu 37 11 128842500 128842500 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 128842500 128842500 T G SNP ARHGAP32 ENST00000310343 human ensembl 69_37n -1 known missense c.3859 p.T1287P 0.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 149 0 0.00 77 17 18.09 - - - ARHGAP32 0 genome.wustl.edu 37 11 128842747 128842747 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 128842747 128842747 T G SNP ARHGAP32 ENST00000310343 human ensembl 69_37n -1 known silent c.3612 p.P1204 0.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 173 1 0.57 82 24 21.82 - - - ARHGAP32 0 genome.wustl.edu 37 11 128844695 128844695 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 128844695 128844695 T G SNP ARHGAP32 ENST00000310343 human ensembl 69_37n -1 known silent c.2355 p.P785 0.971 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 163 0 0.00 103 19 15.45 - - - ARHGAP36 0 genome.wustl.edu 37 X 130219633 130219633 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 130219633 130219633 A C SNP ARHGAP36 ENST00000276211 human ensembl 69_37n +1 known missense c.1027 p.T343P 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 777 4 0.51 602 77 11.29 - - - ARHGAP36 0 genome.wustl.edu 37 X 130220304 130220304 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 130220304 130220304 T G SNP ARHGAP36 ENST00000276211 human ensembl 69_37n +1 known missense c.1283 p.V428G 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 284 0 0.00 185 29 13.49 - - - ARHGAP5 0 genome.wustl.edu 37 14 32562266 32562266 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 32562266 32562266 A C SNP ARHGAP5 ENST00000345122 human ensembl 69_37n +1 known silent c.2391 p.S797 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 226 0 0.00 249 32 11.35 - - - ARHGDIB 0 genome.wustl.edu 37 12 15095426 15095426 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 15095426 15095426 T G SNP ARHGDIB ENST00000539131 human ensembl 69_37n -1 known rna NULL NULL 0.033 - - - no_errors ARHGDIB HGNC ENSG00000111348 149 0 0.00 113 31 21.09 - - - ARHGEF19 0 genome.wustl.edu 37 1 16525026 16525026 + RNA SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 16525026 16525026 T C SNP ARHGEF19 ENST00000478117 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors ARHGEF19 HGNC ENSG00000142632 101 0 0.00 65 13 16.67 - - - ARHGEF25 0 genome.wustl.edu 37 12 58009621 58009621 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 58009621 58009621 T G SNP ARHGEF25 ENST00000333972 human ensembl 69_37n +1 known missense c.1358 p.V453G 1.000 pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 82 0 0.00 55 15 21.13 - - - ARHGEF5 0 genome.wustl.edu 37 7 144077001 144077001 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 144077001 144077001 A G SNP ARHGEF5 ENST00000056217 human ensembl 69_37n +1 known missense c.4646 p.E1549G 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 107 0 0.00 115 29 19.73 - - - ARID1A 0 genome.wustl.edu 37 1 27101596 27101596 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 27101596 27101596 A C SNP ARID1A ENST00000532781 human ensembl 69_37n +1 known missense c.236 p.H79P 0.991 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ARID1A HGNC ENSG00000117713 122 1 0.80 113 24 17.52 - - - ARID1A 0 genome.wustl.edu 37 1 27106702 27106702 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 27106702 27106702 A C SNP ARID1A ENST00000324856 human ensembl 69_37n +1 known missense c.6313 p.T2105P 1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 226 2 0.87 205 34 14.17 - - - ARID5B 0 genome.wustl.edu 37 10 63699970 63699970 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 63699970 63699970 T G SNP ARID5B ENST00000279873 human ensembl 69_37n +1 known missense c.305 p.V102G 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 139 0 0.00 113 16 12.31 - - - ARID5B 0 genome.wustl.edu 37 10 63852666 63852666 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 63852666 63852666 A C SNP ARID5B ENST00000279873 human ensembl 69_37n +1 known silent c.3444 p.T1148 0.988 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 174 0 0.00 154 27 14.92 - - - ARMCX2 0 genome.wustl.edu 37 X 100912810 100912810 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 100912810 100912810 A C SNP ARMCX2 ENST00000467416 human ensembl 69_37n -1 known rna NULL NULL 0.007 - - - no_errors ARMCX2 HGNC ENSG00000184867 25 0 0.00 15 8 34.78 - - - ARMCX3 0 genome.wustl.edu 37 X 100880200 100880200 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 100880200 100880200 A C SNP ARMCX3 ENST00000341189 human ensembl 69_37n +1 known silent c.231 p.P77 0.999 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX3 HGNC ENSG00000102401 266 0 0.00 340 42 10.97 - - - ARMCX5 0 genome.wustl.edu 37 X 101857234 101857234 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 101857234 101857234 T G SNP ARMCX5 ENST00000246174 human ensembl 69_37n +1 known silent c.165 p.G55 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMCX5 HGNC ENSG00000125962 343 2 0.57 280 42 13.00 - - - ARMCX5 0 genome.wustl.edu 37 X 101857287 101857287 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 101857287 101857287 T G SNP ARMCX5 ENST00000246174 human ensembl 69_37n +1 known missense c.218 p.V73G 0.029 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMCX5 HGNC ENSG00000125962 426 3 0.70 358 43 10.72 - - - ARNT2 0 genome.wustl.edu 37 15 80767444 80767444 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 80767444 80767444 A C SNP ARNT2 ENST00000303329 human ensembl 69_37n +1 known missense c.502 p.T168P 1.000 pfam_PAS_fold,smart_PAS,pfscan_PAS,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 234 0 0.00 212 42 16.54 - - - ARSG 0 genome.wustl.edu 37 17 66416439 66416439 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 66416439 66416439 T G SNP ARSG ENST00000448504 human ensembl 69_37n +1 known silent c.1413 p.G471 0.000 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSG HGNC ENSG00000141337 167 0 0.00 164 32 16.33 - - - ARSK 0 genome.wustl.edu 37 5 94936700 94936700 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 94936700 94936700 A C SNP ARSK ENST00000380009 human ensembl 69_37n +1 known missense c.1246 p.T416P 0.542 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 271 0 0.00 171 26 13.20 - - - AS3MT 0 genome.wustl.edu 37 10 104638149 104638149 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 104638149 104638149 T G SNP AS3MT ENST00000369880 human ensembl 69_37n +1 known silent c.624 p.G208 0.975 NULL pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT,pfam_Methyltransferase-rel - no_errors AS3MT HGNC ENSG00000214435 311 2 0.63 172 42 19.63 - - - ASAP3 0 genome.wustl.edu 37 1 23762311 23762311 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 23762311 23762311 T G SNP ASAP3 ENST00000484418 human ensembl 69_37n -1 known missense c.364 p.T122P 0.000 NULL pfam_ArfGAP,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ASAP3 HGNC ENSG00000088280 80 0 0.00 62 12 16.22 - - - ASB14 0 genome.wustl.edu 37 3 57311899 57311899 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 57311899 57311899 A C SNP ASB14 ENST00000389601 human ensembl 69_37n -1 known missense c.1481 p.V494G 1.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB14 HGNC ENSG00000239388 115 1 0.86 71 21 22.83 - - - ASCC2 0 genome.wustl.edu 37 22 30198154 30198154 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 30198154 30198154 A C SNP ASCC2 ENST00000307790 human ensembl 69_37n -1 known missense c.1397 p.V466G 1.000 superfamily_UBA-like pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 33 0 0.00 29 6 17.14 - - - ASCC3 0 genome.wustl.edu 37 6 100964164 100964164 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 100964164 100964164 A C SNP ASCC3 ENST00000369162 human ensembl 69_37n -1 known silent c.5967 p.G1989 0.105 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 148 0 0.00 101 27 20.77 - - - ASGR2 0 genome.wustl.edu 37 17 7010437 7010437 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7010437 7010437 A C SNP ASGR2 ENST00000355035 human ensembl 69_37n -1 known missense c.545 p.V182G 0.052 superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR2 HGNC ENSG00000161944 173 1 0.57 159 30 15.87 - - - ASIP 0 genome.wustl.edu 37 20 32848255 32848255 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 32848255 32848255 A C SNP ASIP ENST00000374954 human ensembl 69_37n +1 known silent c.75 p.P25 0.849 pfam_Agouti,smart_Agouti pfam_Agouti,superfamily_Agouti,smart_Agouti,pfscan_Agouti - no_errors ASIP HGNC ENSG00000101440 124 0 0.00 157 27 14.67 - - - ASNSD1 0 genome.wustl.edu 37 2 190531042 190531042 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 190531042 190531042 A C SNP ASNSD1 ENST00000260952 human ensembl 69_37n +1 known missense c.184 p.T62P 0.997 NULL pfam_Asn_synthase - no_errors ASNSD1 HGNC ENSG00000138381 203 1 0.49 145 26 15.20 - - - ASTN1 0 genome.wustl.edu 37 1 176845720 176845720 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 176845720 176845720 A C SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known missense c.3440 p.V1147G 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 95 0 0.00 107 18 14.29 - - - ASTN2 0 genome.wustl.edu 37 9 119188359 119188359 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 119188359 119188359 T G SNP ASTN2 ENST00000313400 human ensembl 69_37n -1 known missense c.3791 p.H1264P 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 42 0 0.00 30 4 11.76 - - - ASTN2 0 genome.wustl.edu 37 9 119380731 119380731 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 119380731 119380731 A C SNP ASTN2 ENST00000313400 human ensembl 69_37n -1 known missense c.3227 p.V1076G 0.998 superfamily_Fibronectin_type3 pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 230 0 0.00 212 31 12.76 - - - ASXL2 0 genome.wustl.edu 37 2 25966553 25966553 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 25966553 25966553 A G SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known missense c.2653 p.S885P 0.122 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 189 0 0.00 232 35 13.11 - - - ASXL3 0 genome.wustl.edu 37 18 31324041 31324041 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 31324041 31324041 A C SNP ASXL3 ENST00000269197 human ensembl 69_37n +1 known missense c.4229 p.H1410P 0.170 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 192 1 0.51 177 33 15.64 - - - ATF7IP 0 genome.wustl.edu 37 12 14613535 14613535 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 14613535 14613535 A C SNP ATF7IP ENST00000261168 human ensembl 69_37n +1 known silent c.2265 p.A755 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 140 0 0.00 140 22 13.50 - - - ATG14 0 genome.wustl.edu 37 14 55836403 55836403 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 55836403 55836403 A C SNP ATG14 ENST00000247178 human ensembl 69_37n -1 known silent c.1413 p.G471 0.006 NULL pfam_UV_resistance/autophagy_Atg14 - no_errors ATG14 HGNC ENSG00000126775 167 1 0.60 155 29 15.68 - - - ATG2B 0 genome.wustl.edu 37 14 96800038 96800038 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 96800038 96800038 T G SNP ATG2B ENST00000359933 human ensembl 69_37n -1 known silent c.1194 p.T398 0.988 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 122 0 0.00 63 16 20.25 - - - ATM 0 genome.wustl.edu 37 11 108204634 108204634 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 108204634 108204634 A C SNP ATM ENST00000278616 human ensembl 69_37n +1 known missense c.7949 p.D2650A 1.000 superfamily_Kinase-like_dom,superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 350 0 0.00 261 44 14.43 - - - ATP10A 0 genome.wustl.edu 37 15 25924744 25924744 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 25924744 25924744 A C SNP ATP10A ENST00000356865 human ensembl 69_37n -1 known missense c.4244 p.V1415G 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 36 0 0.00 28 5 15.15 - - - ATP10B 0 genome.wustl.edu 37 5 160061397 160061397 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 160061397 160061397 T G SNP ATP10B ENST00000327245 human ensembl 69_37n -1 known missense c.1345 p.T449P 0.997 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 209 1 0.48 225 35 13.46 - - - ATP1A2 0 genome.wustl.edu 37 1 160097384 160097384 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 160097384 160097384 T G SNP ATP1A2 ENST00000361216 human ensembl 69_37n +1 known missense c.791 p.V264G 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A2 HGNC ENSG00000018625 93 0 0.00 165 36 17.82 - - - ATP2B1 0 genome.wustl.edu 37 12 89984840 89984840 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 89984840 89984840 T G SNP ATP2B1 ENST00000261173 human ensembl 69_37n -1 known missense c.3584 p.H1195P 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 229 0 0.00 177 27 13.24 - - - ATP2B1 0 genome.wustl.edu 37 12 89992457 89992457 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 89992457 89992457 A G SNP ATP2B1 ENST00000359142 human ensembl 69_37n -1 known missense c.3415 p.S1139P 1.000 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATP_Ca_trans_C,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 303 2 0.65 246 50 16.78 - - - ATP2B1 0 genome.wustl.edu 37 12 90005090 90005090 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 90005090 90005090 A C SNP ATP2B1 ENST00000261173 human ensembl 69_37n -1 known silent c.2127 p.G709 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 606 3 0.49 437 53 10.82 - - - ATP2B1 0 genome.wustl.edu 37 12 90028994 90028994 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 90028994 90028994 A C SNP ATP2B1 ENST00000261173 human ensembl 69_37n -1 known silent c.441 p.G147 0.928 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 172 0 0.00 157 23 12.64 - - - ATP2C2 0 genome.wustl.edu 37 16 84459364 84459364 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 84459364 84459364 T G SNP ATP2C2 ENST00000262429 human ensembl 69_37n +1 known missense c.943 p.S315A 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2C2 HGNC ENSG00000064270 189 1 0.52 114 30 20.69 - - - ATP4A 0 genome.wustl.edu 37 19 36050957 36050957 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 36050957 36050957 A C SNP ATP4A ENST00000262623 human ensembl 69_37n -1 known missense c.806 p.V269G 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP4A HGNC ENSG00000105675 121 0 0.00 69 20 22.22 - - - ATP5G2 0 genome.wustl.edu 37 12 54062992 54062992 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 54062992 54062992 A C SNP ATP5G2 ENST00000394349 human ensembl 69_37n -1 known missense c.422 p.V141G 1.000 pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_F0-cplx_csu pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_F0-cplx_csu - no_errors ATP5G2 HGNC ENSG00000135390 100 1 0.99 112 30 20.98 - - - ATP6V0A1 0 genome.wustl.edu 37 17 40673251 40673251 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 40673251 40673251 A C SNP ATP6V0A1 ENST00000587299 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ATP6V0A1 HGNC ENSG00000033627 85 0 0.00 56 23 29.11 - - - ATP7A 0 genome.wustl.edu 37 X 77298177 77298177 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 77298177 77298177 T G SNP ATP7A ENST00000341514 human ensembl 69_37n +1 known missense c.3896 p.V1299G 1.000 pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 296 0 0.00 187 41 17.98 - - - ATP7B 0 genome.wustl.edu 37 13 52509062 52509062 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 52509062 52509062 A C SNP ATP7B ENST00000242839 human ensembl 69_37n -1 known missense c.4228 p.W1410G 0.953 NULL pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 60 0 0.00 47 11 18.97 - - - ATP8B1 0 genome.wustl.edu 37 18 55319782 55319782 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 55319782 55319782 T G SNP ATP8B1 ENST00000283684 human ensembl 69_37n -1 known silent c.3195 p.A1065 0.348 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B1 HGNC ENSG00000081923 138 0 0.00 142 25 14.97 - - - ATP8B2 0 genome.wustl.edu 37 1 154309891 154309891 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 154309891 154309891 T G SNP ATP8B2 ENST00000368489 human ensembl 69_37n +1 known missense c.1004 p.V335G 0.986 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ENSG00000143515 100 0 0.00 142 37 20.56 - - - ATP8B2 0 genome.wustl.edu 37 1 154317974 154317974 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 154317974 154317974 A C SNP ATP8B2 ENST00000368489 human ensembl 69_37n +1 known missense c.2746 p.T916P 1.000 tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ENSG00000143515 257 0 0.00 240 31 11.44 - - - ATP8B4 0 genome.wustl.edu 37 15 50189596 50189596 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 50189596 50189596 A C SNP ATP8B4 ENST00000284509 human ensembl 69_37n -1 known missense c.2590 p.W864G 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B4 HGNC ENSG00000104043 420 2 0.47 284 51 15.18 - - - ATRN 0 genome.wustl.edu 37 20 3564721 3564721 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 3564721 3564721 A C SNP ATRN ENST00000262919 human ensembl 69_37n +1 known missense c.2941 p.T981P 1.000 pfam_Plexin_repeat,smart_Plexin-like pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EGF-like,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 335 3 0.88 276 40 12.62 - - - ATXN7 0 genome.wustl.edu 37 3 63973893 63973893 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 63973893 63973893 T C SNP ATXN7 ENST00000398590 human ensembl 69_37n +1 known silent c.1254 p.P418 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 359 3 0.83 278 33 10.58 - - - ATXN7 0 genome.wustl.edu 37 3 63976471 63976471 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 63976471 63976471 T G SNP ATXN7 ENST00000398590 human ensembl 69_37n +1 known missense c.1618 p.W540G 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 130 0 0.00 92 18 16.36 - - - ATXN7L1 0 genome.wustl.edu 37 7 105516281 105516281 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 105516281 105516281 T C SNP ATXN7L1 ENST00000419735 human ensembl 69_37n -1 known missense c.227 p.E76G 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC ENSG00000146776 248 1 0.40 130 24 15.48 - - - AUTS2 0 genome.wustl.edu 37 7 70246695 70246695 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 70246695 70246695 A C SNP AUTS2 ENST00000342771 human ensembl 69_37n +1 known missense c.2099 p.H700P 1.000 prints_AUTS2 prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 228 2 0.87 169 34 16.67 - - - B3GALT1 0 genome.wustl.edu 37 2 168725668 168725668 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 168725668 168725668 A C SNP B3GALT1 ENST00000305861 human ensembl 69_37n +1 known missense c.119 p.H40P 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT1 HGNC ENSG00000172318 212 0 0.00 115 21 15.44 - - - B3GALT1 0 genome.wustl.edu 37 2 168725694 168725694 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 168725694 168725694 A C SNP B3GALT1 ENST00000305861 human ensembl 69_37n +1 known missense c.145 p.T49P 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT1 HGNC ENSG00000172318 241 1 0.41 121 31 20.39 - - - B4GALT1 0 genome.wustl.edu 37 9 33135302 33135302 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 33135302 33135302 A C SNP B4GALT1 ENST00000379731 human ensembl 69_37n -1 known missense c.533 p.V178G 1.000 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT1 HGNC ENSG00000086062 108 0 0.00 92 20 17.70 - - - BAK1 0 genome.wustl.edu 37 6 33543621 33543621 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 33543621 33543621 A C SNP BAK1 ENST00000360661 human ensembl 69_37n -1 known missense c.155 p.V52G 0.402 NULL pfam_Bcl2_BH,smart_Bcl2_BH,prints_Bcl2_BH,pfscan_Bcl2-like_apoptosis - no_errors BAK1 HGNC ENSG00000030110 47 0 0.00 62 13 17.33 - - - BAZ2B 0 genome.wustl.edu 37 2 160193999 160193999 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 160193999 160193999 T G SNP BAZ2B ENST00000426648 human ensembl 69_37n -1 putative silent c.393 p.A131 1.000 NULL NULL - no_start_codon:no_stop_codon BAZ2B HGNC ENSG00000123636 204 2 0.97 139 33 19.08 - - - BAZ2B 0 genome.wustl.edu 37 2 160205738 160205738 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 160205738 160205738 A C SNP BAZ2B ENST00000392783 human ensembl 69_37n -1 known silent c.4917 p.G1639 0.982 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 231 1 0.43 112 30 20.98 - - - BAZ2B 0 genome.wustl.edu 37 2 160206228 160206228 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 160206228 160206228 T G SNP BAZ2B ENST00000392783 human ensembl 69_37n -1 known silent c.4854 p.S1618 0.997 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 160 0 0.00 82 20 19.61 - - - BAZ2B 0 genome.wustl.edu 37 2 160206294 160206294 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 160206294 160206294 T G SNP BAZ2B ENST00000392783 human ensembl 69_37n -1 known silent c.4788 p.S1596 0.845 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 200 1 0.50 107 28 20.74 - - - BAZ2B 0 genome.wustl.edu 37 2 160206300 160206300 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 160206300 160206300 T G SNP BAZ2B ENST00000392783 human ensembl 69_37n -1 known silent c.4782 p.S1594 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 198 1 0.50 99 35 26.12 - - - BAZ2B 0 genome.wustl.edu 37 2 160206384 160206384 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 160206384 160206384 T G SNP BAZ2B ENST00000392783 human ensembl 69_37n -1 known silent c.4698 p.T1566 0.877 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 307 2 0.65 142 23 13.94 - - - BBS2 0 genome.wustl.edu 37 16 56531757 56531757 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 56531757 56531757 A C SNP BBS2 ENST00000245157 human ensembl 69_37n -1 known silent c.1695 p.G565 0.999 pirsf_Bardet-Biedl_syndrome_2_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot - no_errors BBS2 HGNC ENSG00000125124 120 0 0.00 80 19 19.19 - - - BBX 0 genome.wustl.edu 37 3 107447654 107447654 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 107447654 107447654 T G SNP BBX ENST00000325805 human ensembl 69_37n +1 known missense c.448 p.C150G 1.000 superfamily_HMG_superfamily pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors BBX HGNC ENSG00000114439 653 2 0.30 466 54 10.33 - - - BCAN 0 genome.wustl.edu 37 1 156626134 156626134 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 156626134 156626134 T G SNP BCAN ENST00000329117 human ensembl 69_37n +1 known missense c.2003 p.V668G 0.908 pfam_EGF-like_dom,smart_EGF-like,pfscan_EG-like_dom pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like - no_errors BCAN HGNC ENSG00000132692 90 0 0.00 137 27 16.27 - - - BCAR3 0 genome.wustl.edu 37 1 94049601 94049601 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 94049601 94049601 T G SNP BCAR3 ENST00000260502 human ensembl 69_37n -1 known missense c.1007 p.H336P 1.000 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 60 0 0.00 35 15 30.00 - - - BCAS1 0 genome.wustl.edu 37 20 52601861 52601861 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 52601861 52601861 T G SNP BCAS1 ENST00000371440 human ensembl 69_37n -1 known missense c.1240 p.T414P 0.992 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 189 1 0.53 163 30 15.54 - - - BCAS1 0 genome.wustl.edu 37 20 52644983 52644983 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 52644983 52644983 A C SNP BCAS1 ENST00000371440 human ensembl 69_37n -1 known missense c.671 p.V224G 0.001 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 375 2 0.53 291 67 18.72 - - - BCAS1 0 genome.wustl.edu 37 20 52645034 52645034 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 52645034 52645034 A C SNP BCAS1 ENST00000371440 human ensembl 69_37n -1 known missense c.620 p.V207G 0.000 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 344 3 0.86 293 39 11.68 - - - BCHE 0 genome.wustl.edu 37 3 165548295 165548295 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 165548295 165548295 A C SNP BCHE ENST00000264381 human ensembl 69_37n -1 known missense c.527 p.V176G 0.670 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 125 1 0.79 105 26 19.85 - - - BCL9 0 genome.wustl.edu 37 1 147091302 147091302 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 147091302 147091302 A C SNP BCL9 ENST00000234739 human ensembl 69_37n +1 known silent c.1341 p.P447 0.907 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 170 0 0.00 174 24 12.12 - - - BCL9 0 genome.wustl.edu 37 1 147092751 147092751 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 147092751 147092751 A C SNP BCL9 ENST00000234739 human ensembl 69_37n +1 known silent c.2790 p.S930 0.928 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 207 0 0.00 243 28 10.22 - - - BCLAF1 0 genome.wustl.edu 37 6 136599746 136599746 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 136599746 136599746 A C SNP BCLAF1 ENST00000531224 human ensembl 69_37n -1 known silent c.273 p.G91 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 208 1 0.48 190 28 12.79 - - - BCOR 0 genome.wustl.edu 37 X 39923696 39923696 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 39923696 39923696 A C SNP BCOR ENST00000378444 human ensembl 69_37n -1 known missense c.3395 p.V1132G 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 46 0 0.00 36 11 23.40 - - - BCORL1 0 genome.wustl.edu 37 X 129147498 129147498 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 129147498 129147498 T C SNP BCORL1 ENST00000303743 human ensembl 69_37n +1 known silent c.750 p.P250 0.964 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 310 2 0.64 309 43 12.18 - - - BCS1L 0 genome.wustl.edu 37 2 219527707 219527707 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 219527707 219527707 A C SNP BCS1L ENST00000359273 human ensembl 69_37n +1 known missense c.991 p.T331P 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_BCS1_N,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors BCS1L HGNC ENSG00000074582 130 0 0.00 149 20 11.83 - - - BDKRB2 0 genome.wustl.edu 37 14 96707011 96707011 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 96707011 96707011 A C SNP BDKRB2 ENST00000306005 human ensembl 69_37n +1 known missense c.346 p.T116P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Brdyknn_rcpt,prints_ATII_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_B2_bradkn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_ATII_rcpt - no_errors BDKRB2 HGNC ENSG00000168398 87 0 0.00 37 9 18.37 - - - BDP1 0 genome.wustl.edu 37 5 70837390 70837390 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 70837390 70837390 A C SNP BDP1 ENST00000514903 human ensembl 69_37n +1 known missense c.899 p.H300P 0.435 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BDP1 HGNC ENSG00000145734 124 0 0.00 102 34 25.00 - - - BET1L 0 genome.wustl.edu 37 11 205596 205596 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 205596 205596 A C SNP BET1L ENST00000325147 human ensembl 69_37n -1 known silent c.183 p.G61 0.000 NULL pfscan_T_SNARE_dom - no_errors BET1L HGNC ENSG00000177951 33 0 0.00 26 7 21.21 - - - BFSP2 0 genome.wustl.edu 37 3 133193849 133193849 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 133193849 133193849 A C SNP BFSP2 ENST00000510039 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors BFSP2 HGNC ENSG00000170819 142 1 0.70 108 32 22.86 - - - BHLHB9 0 genome.wustl.edu 37 X 102004634 102004634 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 102004634 102004634 A C SNP BHLHB9 ENST00000361229 human ensembl 69_37n +1 known silent c.711 p.A237 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 384 1 0.26 317 37 10.36 - - - BICD1 0 genome.wustl.edu 37 12 32491811 32491811 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 32491811 32491811 A C SNP BICD1 ENST00000281474 human ensembl 69_37n +1 known missense c.2662 p.T888P 1.000 NULL pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC-like - no_errors BICD1 HGNC ENSG00000151746 268 1 0.37 256 47 15.51 - - - BIRC6 0 genome.wustl.edu 37 2 32688310 32688310 + Missense_Mutation SNP C C T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 32688310 32688310 C T SNP BIRC6 ENST00000421745 human ensembl 69_37n +1 known missense c.4802 p.T1601I 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 31 0 0.00 39 8 17.02 - - - BMP1 0 genome.wustl.edu 37 8 22037984 22037984 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 22037984 22037984 A C SNP BMP1 ENST00000306385 human ensembl 69_37n +1 known silent c.1065 p.T355 0.111 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A,pfscan_CUB,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 111 1 0.89 62 22 25.58 - - - BMP1 0 genome.wustl.edu 37 8 22054300 22054300 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 22054300 22054300 A C SNP BMP1 ENST00000306385 human ensembl 69_37n +1 known missense c.1873 p.T625P 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A,pfscan_CUB,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 47 0 0.00 35 15 29.41 - - - BMP15 0 genome.wustl.edu 37 X 50659374 50659374 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 50659374 50659374 A C SNP BMP15 ENST00000252677 human ensembl 69_37n +1 known missense c.946 p.T316P 0.993 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP15 HGNC ENSG00000130385 230 0 0.00 220 32 12.65 - - - BMX 0 genome.wustl.edu 37 X 15536099 15536099 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 15536099 15536099 A C SNP BMX ENST00000342014 human ensembl 69_37n +1 known missense c.493 p.T165P 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom - no_errors BMX HGNC ENSG00000102010 193 0 0.00 129 26 16.67 - - - BMX 0 genome.wustl.edu 37 X 15540568 15540568 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 15540568 15540568 T C SNP BMX ENST00000342014 human ensembl 69_37n +1 known missense c.610 p.S204P 0.007 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom - no_errors BMX HGNC ENSG00000102010 455 2 0.44 370 81 17.96 - - - BMX 0 genome.wustl.edu 37 X 15540576 15540576 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 15540576 15540576 A C SNP BMX ENST00000342014 human ensembl 69_37n +1 known silent c.618 p.P206 0.079 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom - no_errors BMX HGNC ENSG00000102010 440 1 0.23 374 60 13.79 - - - BMX 0 genome.wustl.edu 37 X 15540589 15540589 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 15540589 15540589 A C SNP BMX ENST00000342014 human ensembl 69_37n +1 known missense c.631 p.T211P 0.063 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom - no_errors BMX HGNC ENSG00000102010 432 0 0.00 375 42 10.07 - - - BNC1 0 genome.wustl.edu 37 15 83926490 83926490 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 83926490 83926490 A C SNP BNC1 ENST00000345382 human ensembl 69_37n -1 known missense c.2689 p.S897A 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 324 0 0.00 282 36 11.25 - - - BOD1L1 0 genome.wustl.edu 37 4 13603247 13603247 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 13603247 13603247 A C SNP BOD1L1 ENST00000040738 human ensembl 69_37n -1 known silent c.5277 p.G1759 0.001 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 387 1 0.26 330 73 18.11 - - - BOD1L1 0 genome.wustl.edu 37 4 13603253 13603253 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 13603253 13603253 A C SNP BOD1L1 ENST00000040738 human ensembl 69_37n -1 known silent c.5271 p.G1757 0.046 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 391 2 0.51 350 55 13.51 - - - BOD1L1 0 genome.wustl.edu 37 4 13603748 13603748 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 13603748 13603748 A C SNP BOD1L1 ENST00000040738 human ensembl 69_37n -1 known silent c.4776 p.G1592 0.844 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 138 1 0.72 92 37 28.68 - - - BPIFA1 0 genome.wustl.edu 37 20 31828151 31828151 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 31828151 31828151 A C SNP BPIFA1 ENST00000354297 human ensembl 69_37n +1 known missense c.541 p.T181P 0.950 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA1 HGNC ENSG00000198183 307 0 0.00 231 40 14.76 - - - BPIFA1 0 genome.wustl.edu 37 20 31829904 31829904 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 31829904 31829904 A C SNP BPIFA1 ENST00000354297 human ensembl 69_37n +1 known missense c.709 p.T237P 0.897 superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA1 HGNC ENSG00000198183 71 0 0.00 75 21 21.88 - - - BPIFA3 0 genome.wustl.edu 37 20 31811719 31811719 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 31811719 31811719 T G SNP BPIFA3 ENST00000375454 human ensembl 69_37n +1 known missense c.230 p.V77G 1.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA3 HGNC ENSG00000131059 101 0 0.00 178 27 12.98 - - - BPIFA3 0 genome.wustl.edu 37 20 31811746 31811746 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 31811746 31811746 A C SNP BPIFA3 ENST00000375454 human ensembl 69_37n +1 known missense c.257 p.H86P 0.224 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA3 HGNC ENSG00000131059 96 0 0.00 134 22 14.01 - - - BPIFB1 0 genome.wustl.edu 37 20 31873928 31873928 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 31873928 31873928 A C SNP BPIFB1 ENST00000253354 human ensembl 69_37n +1 known missense c.49 p.T17P 0.013 pirsf_PLUNC_long_form pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form - no_errors BPIFB1 HGNC ENSG00000125999 54 0 0.00 91 21 18.42 - - - BPIFB1 0 genome.wustl.edu 37 20 31889111 31889111 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 31889111 31889111 A C SNP BPIFB1 ENST00000253354 human ensembl 69_37n +1 known missense c.820 p.T274P 0.000 superfamily_Bactericidal_perm-incr_a/b_dom,pirsf_PLUNC_long_form pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form - no_errors BPIFB1 HGNC ENSG00000125999 171 1 0.58 128 18 12.33 - - - BPIFB1 0 genome.wustl.edu 37 20 31890869 31890869 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 31890869 31890869 A C SNP BPIFB1 ENST00000253354 human ensembl 69_37n +1 known missense c.1129 p.T377P 1.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,pirsf_PLUNC_long_form pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form - no_errors BPIFB1 HGNC ENSG00000125999 154 1 0.64 96 20 17.24 - - - BPIFB2 0 genome.wustl.edu 37 20 31600644 31600644 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 31600644 31600644 A C SNP BPIFB2 ENST00000170150 human ensembl 69_37n +1 known missense c.239 p.H80P 0.026 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB2 HGNC ENSG00000078898 186 0 0.00 120 22 15.49 - - - BPIFB2 0 genome.wustl.edu 37 20 31606539 31606539 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 31606539 31606539 A C SNP BPIFB2 ENST00000170150 human ensembl 69_37n +1 known missense c.766 p.T256P 0.096 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB2 HGNC ENSG00000078898 138 1 0.71 87 23 20.91 - - - BPIFB4 0 genome.wustl.edu 37 20 31673933 31673933 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 31673933 31673933 A C SNP BPIFB4 ENST00000375483 human ensembl 69_37n +1 known missense c.889 p.T297P 1.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 147 0 0.00 155 31 16.67 - - - BRCA2 0 genome.wustl.edu 37 13 32972493 32972493 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 32972493 32972493 A C SNP BRCA2 ENST00000380152 human ensembl 69_37n +1 known silent c.9843 p.P3281 0.966 pirsf_DNA_recomb/repair_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 219 1 0.45 247 31 11.15 - - - BRD2 0 genome.wustl.edu 37 6 32944106 32944106 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 32944106 32944106 A C SNP BRD2 ENST00000449025 human ensembl 69_37n +1 putative missense c.707 p.H236P 0.988 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BRD2 HGNC ENSG00000204256 231 0 0.00 163 37 18.50 - - - BRD2 0 genome.wustl.edu 37 6 32946109 32946109 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 32946109 32946109 T G SNP BRD2 ENST00000449025 human ensembl 69_37n +1 putative missense c.1802 p.V601G 0.558 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BRD2 HGNC ENSG00000204256 202 2 0.98 132 25 15.82 - - - BRPF1 0 genome.wustl.edu 37 3 9775898 9775898 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 9775898 9775898 T G SNP BRPF1 ENST00000383829 human ensembl 69_37n +1 known missense c.74 p.V25G 1.000 pfscan_Znf_C2H2 pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,prints_Bromodomain,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 154 1 0.65 147 20 11.83 - - - BRPF3 0 genome.wustl.edu 37 6 36181706 36181706 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 36181706 36181706 A C SNP BRPF3 ENST00000441730 human ensembl 69_37n +1 known missense c.163 p.T55P 0.987 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BRPF3 HGNC ENSG00000096070 227 2 0.87 162 31 15.98 - - - BRWD3 0 genome.wustl.edu 37 X 79948515 79948515 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 79948515 79948515 A C SNP BRWD3 ENST00000373275 human ensembl 69_37n -1 known missense c.3187 p.W1063G 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 305 2 0.65 245 37 13.12 - - - BRWD3 0 genome.wustl.edu 37 X 79999579 79999579 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 79999579 79999579 T G SNP BRWD3 ENST00000373275 human ensembl 69_37n -1 known silent c.765 p.A255 1.000 superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 241 0 0.00 213 43 16.73 - - - BST1 0 genome.wustl.edu 37 4 15709185 15709185 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 15709185 15709185 A C SNP BST1 ENST00000265016 human ensembl 69_37n +1 known missense c.367 p.T123P 0.000 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC ENSG00000109743 302 1 0.33 182 24 11.59 - - - BTBD3 0 genome.wustl.edu 37 20 11899026 11899026 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 11899026 11899026 A C SNP BTBD3 ENST00000378226 human ensembl 69_37n +1 known missense c.103 p.T35P 0.944 NULL pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD3 HGNC ENSG00000132640 320 0 0.00 246 32 11.51 - - - BTBD3 0 genome.wustl.edu 37 20 11903365 11903365 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 11903365 11903365 A C SNP BTBD3 ENST00000378226 human ensembl 69_37n +1 known missense c.620 p.H207P 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD3 HGNC ENSG00000132640 140 0 0.00 124 17 11.97 - - - BTN1A1 0 genome.wustl.edu 37 6 26509376 26509376 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 26509376 26509376 A C SNP BTN1A1 ENST00000244513 human ensembl 69_37n +1 known missense c.1555 p.T519P 0.000 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 159 1 0.62 120 29 18.95 - - - BTN1A1 0 genome.wustl.edu 37 6 26509396 26509396 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 26509396 26509396 A C SNP BTN1A1 ENST00000244513 human ensembl 69_37n +1 known silent c.1575 p.A525 0.001 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 143 0 0.00 127 22 14.77 - - - BTN2A3P 0 genome.wustl.edu 37 6 26431644 26431644 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 26431644 26431644 T G SNP BTN2A3P ENST00000466808 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors BTN2A3P HGNC ENSG00000124549 199 0 0.00 112 17 13.18 - - - BTN3A1 0 genome.wustl.edu 37 6 26413610 26413610 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 26413610 26413610 T G SNP BTN3A1 ENST00000289361 human ensembl 69_37n +1 known missense c.1232 p.V411G 0.962 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A1 HGNC ENSG00000026950 312 3 0.95 270 41 13.14 - - - BTNL2 0 genome.wustl.edu 37 6 32374896 32374896 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 32374896 32374896 A C SNP BTNL2 ENST00000468270 human ensembl 69_37n -1 known missense c.5 p.V2G 0.996 NULL pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors BTNL2 HGNC ENSG00000204290 107 0 0.00 117 24 16.90 - - - BUB1B 0 genome.wustl.edu 37 15 40462774 40462774 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 40462774 40462774 T G SNP BUB1B ENST00000559414 human ensembl 69_37n +1 known splice_site c.NULL NULL 0.024 - - - no_errors BUB1B HGNC ENSG00000156970 157 0 0.00 132 24 15.38 - - - C10orf68 0 genome.wustl.edu 37 10 33134844 33134844 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 33134844 33134844 T G SNP C10orf68 ENST00000375025 human ensembl 69_37n +1 known silent c.1482 p.G494 0.001 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 250 0 0.00 176 33 15.71 - - - C10orf68 0 genome.wustl.edu 37 10 33140831 33140831 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 33140831 33140831 A C SNP C10orf68 ENST00000375025 human ensembl 69_37n +1 known missense c.1913 p.H638P 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 361 0 0.00 265 43 13.92 - - - C10orf76 0 genome.wustl.edu 37 10 103792928 103792928 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 103792928 103792928 A C SNP C10orf76 ENST00000370033 human ensembl 69_37n -1 known missense c.161 p.V54G 1.000 NULL pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 172 1 0.57 92 22 19.13 - - - C11orf58 0 genome.wustl.edu 37 11 16776441 16776441 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 16776441 16776441 T G SNP C11orf58 ENST00000228136 human ensembl 69_37n +1 known silent c.342 p.G114 1.000 NULL NULL - no_errors C11orf58 HGNC ENSG00000110696 151 1 0.65 137 20 12.74 - - - C11orf92 0 genome.wustl.edu 37 11 111167049 111167049 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 111167049 111167049 A C SNP C11orf92 ENST00000355430 human ensembl 69_37n -1 known missense c.155 p.V52G 0.000 NULL NULL - no_errors C11orf92 HGNC ENSG00000196167 64 0 0.00 30 10 25.00 - - - C12orf10 0 genome.wustl.edu 37 12 53699825 53699825 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 53699825 53699825 A C SNP C12orf10 ENST00000549488 human ensembl 69_37n +1 putative missense c.134 p.H45P 1.000 pfam_Met-dep_prot_hydro pfam_Met-dep_prot_hydro - no_errors C12orf10 HGNC ENSG00000139637 66 0 0.00 114 23 16.79 - - - C12orf36 0 genome.wustl.edu 37 12 13526228 13526228 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 13526228 13526228 A C SNP C12orf36 ENST00000318426 human ensembl 69_37n -1 known missense c.327 p.S109R 0.000 NULL NULL - no_errors C12orf36 HGNC ENSG00000180861 211 0 0.00 229 26 10.20 - - - C14orf177 0 genome.wustl.edu 37 14 99182639 99182639 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 99182639 99182639 T G SNP C14orf177 ENST00000325812 human ensembl 69_37n +1 known silent c.111 p.G37 0.000 NULL NULL - no_errors C14orf177 HGNC ENSG00000176605 41 0 0.00 36 6 13.95 - - - C14orf43 0 genome.wustl.edu 37 14 74203939 74203939 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 74203939 74203939 A C SNP C14orf43 ENST00000286523 human ensembl 69_37n -1 known missense c.1511 p.V504G 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors C14orf43 HGNC ENSG00000156030 42 0 0.00 26 11 28.21 - - - C14orf43 0 genome.wustl.edu 37 14 74206010 74206010 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 74206010 74206010 T G SNP C14orf43 ENST00000286523 human ensembl 69_37n -1 known silent c.702 p.P234 0.011 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors C14orf43 HGNC ENSG00000156030 24 0 0.00 9 5 35.71 - - - C14orf93 0 genome.wustl.edu 37 14 23467939 23467939 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 23467939 23467939 A C SNP C14orf93 ENST00000299088 human ensembl 69_37n -1 known silent c.294 p.G98 0.993 NULL NULL - no_errors C14orf93 HGNC ENSG00000100802 41 0 0.00 59 13 18.06 - - - C15orf38 0 genome.wustl.edu 37 15 90446510 90446510 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 90446510 90446510 A C SNP C15orf38 ENST00000357484 human ensembl 69_37n -1 known missense c.610 p.C204G 0.997 pfam_UPF0552 pfam_UPF0552 - no_errors C15orf38 HGNC ENSG00000242498 168 1 0.59 251 29 10.25 - - - C15orf54 0 genome.wustl.edu 37 15 39544369 39544369 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 39544369 39544369 T G SNP C15orf54 ENST00000318578 human ensembl 69_37n +1 known silent c.33 p.G11 0.373 NULL NULL - no_errors C15orf54 HGNC ENSG00000175746 309 1 0.32 303 45 12.89 - - - C16orf46 0 genome.wustl.edu 37 16 81095734 81095734 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 81095734 81095734 A C SNP C16orf46 ENST00000299578 human ensembl 69_37n -1 known missense c.220 p.W74G 1.000 NULL NULL - no_errors C16orf46 HGNC ENSG00000166455 103 1 0.96 112 28 20.00 - - - C16orf70 0 genome.wustl.edu 37 16 67168336 67168336 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 67168336 67168336 A C SNP C16orf70 ENST00000219139 human ensembl 69_37n +1 known silent c.627 p.G209 1.000 pfam_UPF0183 pfam_UPF0183 - no_errors C16orf70 HGNC ENSG00000125149 118 0 0.00 77 16 16.84 - - - C17orf61 0 genome.wustl.edu 37 17 7306423 7306423 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7306423 7306423 T G SNP C17orf61 ENST00000302422 human ensembl 69_37n -1 known missense c.304 p.T102P 0.990 pfam_DUF423 pfam_DUF423 - no_errors C17orf61 HGNC ENSG00000205544 86 0 0.00 44 13 22.03 - - - C18orf1 0 genome.wustl.edu 37 18 13645425 13645425 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 13645425 13645425 A C SNP C18orf1 ENST00000359446 human ensembl 69_37n +1 known silent c.690 p.P230 0.872 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors C18orf1 HGNC ENSG00000168675 80 0 0.00 50 15 23.08 - - - C18orf34 0 genome.wustl.edu 37 18 30554590 30554590 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 30554590 30554590 A C SNP C18orf34 ENST00000406524 human ensembl 69_37n -1 known missense c.2516 p.V839G 1.000 NULL NULL - no_errors C18orf34 HGNC ENSG00000166960 28 0 0.00 37 17 31.48 - - - C1GALT1C1 0 genome.wustl.edu 37 X 119760467 119760467 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 119760467 119760467 T C SNP C1GALT1C1 ENST00000304661 human ensembl 69_37n -1 known silent c.555 p.G185 1.000 NULL NULL - no_errors C1GALT1C1 HGNC ENSG00000171155 191 0 0.00 133 26 16.25 - - - C1QB 0 genome.wustl.edu 37 1 22987414 22987414 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 22987414 22987414 T G SNP C1QB ENST00000314933 human ensembl 69_37n +1 known silent c.297 p.G99 0.004 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QB HGNC ENSG00000173369 227 2 0.87 195 32 13.91 - - - C1orf127 0 genome.wustl.edu 37 1 11024285 11024285 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 11024285 11024285 A C SNP C1orf127 ENST00000377004 human ensembl 69_37n -1 known missense c.416 p.V139G 0.016 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 38 0 0.00 27 18 40.00 - - - C1orf173 0 genome.wustl.edu 37 1 75037161 75037161 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 75037161 75037161 A C SNP C1orf173 ENST00000326665 human ensembl 69_37n -1 known missense c.4233 p.S1411R 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 638 6 0.92 437 54 10.89 - - - C1orf173 0 genome.wustl.edu 37 1 75055316 75055316 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 75055316 75055316 A C SNP C1orf173 ENST00000326665 human ensembl 69_37n -1 known silent c.2175 p.G725 0.947 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 507 0 0.00 310 54 14.84 - - - C1orf198 0 genome.wustl.edu 37 1 230979483 230979483 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 230979483 230979483 T G SNP C1orf198 ENST00000366663 human ensembl 69_37n -1 known missense c.544 p.T182P 0.000 NULL NULL - no_errors C1orf198 HGNC ENSG00000119280 124 0 0.00 263 30 10.20 - - - C1orf198 0 genome.wustl.edu 37 1 230979525 230979525 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 230979525 230979525 A G SNP C1orf198 ENST00000366663 human ensembl 69_37n -1 known missense c.502 p.S168P 0.002 NULL NULL - no_errors C1orf198 HGNC ENSG00000119280 120 1 0.83 216 41 15.95 - - - C1orf51 0 genome.wustl.edu 37 1 150259147 150259147 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 150259147 150259147 A C SNP C1orf51 ENST00000290363 human ensembl 69_37n +1 known silent c.939 p.P313 0.006 NULL NULL - no_errors C1orf51 HGNC ENSG00000159208 456 1 0.22 611 84 12.09 - - - C20orf194 0 genome.wustl.edu 37 20 3276685 3276685 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 3276685 3276685 A C SNP C20orf194 ENST00000498079 human ensembl 69_37n -1 known rna NULL NULL 0.021 - - - no_errors C20orf194 HGNC ENSG00000088854 63 0 0.00 100 19 15.83 - - - C22orf25 0 genome.wustl.edu 37 22 20024444 20024444 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 20024444 20024444 A C SNP C22orf25 ENST00000434570 human ensembl 69_37n +1 known silent c.6 p.P2 0.000 NULL pfam_DUF833 - no_errors C22orf25 HGNC ENSG00000183597 26 0 0.00 22 6 21.43 - - - C2CD2L 0 genome.wustl.edu 37 11 118981767 118981767 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 118981767 118981767 T G SNP C2CD2L ENST00000336702 human ensembl 69_37n +1 known silent c.687 p.G229 0.996 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2L HGNC ENSG00000172375 302 1 0.33 160 22 12.02 - - - C2CD2L 0 genome.wustl.edu 37 11 118981975 118981975 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 118981975 118981975 A C SNP C2CD2L ENST00000336702 human ensembl 69_37n +1 known silent c.801 p.V267 0.997 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2L HGNC ENSG00000172375 321 0 0.00 154 23 12.92 - - - C2CD2L 0 genome.wustl.edu 37 11 118981990 118981990 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 118981990 118981990 A C SNP C2CD2L ENST00000336702 human ensembl 69_37n +1 known silent c.816 p.P272 0.903 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2L HGNC ENSG00000172375 309 3 0.96 146 36 19.67 - - - C2CD2L 0 genome.wustl.edu 37 11 118986930 118986930 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 118986930 118986930 A C SNP C2CD2L ENST00000336702 human ensembl 69_37n +1 known missense c.2088 p.K696N 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2L HGNC ENSG00000172375 30 0 0.00 17 10 37.04 - - - C2CD3 0 genome.wustl.edu 37 11 73748605 73748605 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 73748605 73748605 A C SNP C2CD3 ENST00000442398 human ensembl 69_37n -1 known missense c.2021 p.V674G 0.002 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_start_codon C2CD3 HGNC ENSG00000168014 247 1 0.40 180 37 16.82 - - - C2orf16 0 genome.wustl.edu 37 2 27802763 27802763 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 27802763 27802763 A C SNP C2orf16 ENST00000408964 human ensembl 69_37n +1 known silent c.3324 p.P1108 1.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 174 0 0.00 155 25 13.89 - - - C2orf78 0 genome.wustl.edu 37 2 74043748 74043748 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 74043748 74043748 A C SNP C2orf78 ENST00000409561 human ensembl 69_37n +1 novel missense c.2398 p.T800P 0.000 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 156 1 0.63 87 30 25.64 - - - C3AR1 0 genome.wustl.edu 37 12 8212594 8212594 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 8212594 8212594 T G SNP C3AR1 ENST00000307637 human ensembl 69_37n -1 known missense c.188 p.H63P 0.998 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_C3A_anaphtx_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Frt_met_rcpt,prints_C5A_anaphtx_rcpt - no_errors C3AR1 HGNC ENSG00000171860 158 1 0.63 173 44 20.28 - - - C3orf20 0 genome.wustl.edu 37 3 14746069 14746069 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 14746069 14746069 A C SNP C3orf20 ENST00000253697 human ensembl 69_37n +1 known silent c.1104 p.A368 0.000 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 258 0 0.00 231 39 14.44 - - - C3orf30 0 genome.wustl.edu 37 3 118866293 118866293 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 118866293 118866293 A C SNP C3orf30 ENST00000460150 human ensembl 69_37n +1 putative missense c.1147 p.T383P 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C3orf30 HGNC ENSG00000163424 247 0 0.00 213 26 10.88 - - - C5orf25 0 genome.wustl.edu 37 5 175740788 175740788 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 175740788 175740788 A C SNP C5orf25 ENST00000443967 human ensembl 69_37n +1 known missense c.1772 p.H591P 1.000 NULL NULL - no_errors C5orf25 HGNC ENSG00000170085 165 1 0.60 122 25 17.01 - - - C5orf62 0 genome.wustl.edu 37 5 150175090 150175090 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 150175090 150175090 A C SNP C5orf62 ENST00000526627 human ensembl 69_37n +1 known missense c.88 p.T30P 1.000 NULL NULL - no_errors C5orf62 HGNC ENSG00000256235 79 0 0.00 70 14 16.67 - - - C6 0 genome.wustl.edu 37 5 41161915 41161915 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 41161915 41161915 A C SNP C6 ENST00000263413 human ensembl 69_37n -1 known silent c.1338 p.G446 0.520 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C6 HGNC ENSG00000039537 194 0 0.00 157 31 16.49 - - - C6orf10 0 genome.wustl.edu 37 6 32261212 32261212 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 32261212 32261212 A C SNP C6orf10 ENST00000447241 human ensembl 69_37n -1 known missense c.1238 p.V413G 0.000 NULL NULL - no_errors C6orf10 HGNC ENSG00000204296 488 4 0.81 416 72 14.69 - - - C7 0 genome.wustl.edu 37 5 40958263 40958263 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 40958263 40958263 T G SNP C7 ENST00000313164 human ensembl 69_37n +1 known silent c.1389 p.G463 0.955 prints_MAC_perforin pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 136 0 0.00 104 19 15.45 - - - C7 0 genome.wustl.edu 37 5 40972586 40972586 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 40972586 40972586 T G SNP C7 ENST00000313164 human ensembl 69_37n +1 known missense c.1964 p.V655G 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 281 1 0.35 291 34 10.46 - - - C7orf29 0 genome.wustl.edu 37 7 150027893 150027893 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 150027893 150027893 A C SNP C7orf29 ENST00000343855 human ensembl 69_37n +1 known missense c.400 p.T134P 0.000 NULL NULL - no_errors C7orf29 HGNC ENSG00000188707 26 0 0.00 22 9 29.03 - - - C7orf31 0 genome.wustl.edu 37 7 25218861 25218861 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 25218861 25218861 T G SNP C7orf31 ENST00000283905 human ensembl 69_37n -1 known missense c.67 p.T23P 0.638 NULL NULL - no_errors C7orf31 HGNC ENSG00000153790 133 0 0.00 54 14 20.29 - - - C7orf34 0 genome.wustl.edu 37 7 142637571 142637571 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 142637571 142637571 A C SNP C7orf34 ENST00000409607 human ensembl 69_37n +1 known missense c.341 p.H114P 0.448 NULL NULL - no_errors C7orf34 HGNC ENSG00000165131 183 1 0.54 140 24 14.63 - - - C7orf43 0 genome.wustl.edu 37 7 99755254 99755254 + Splice_Site SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 99755254 99755254 A C SNP C7orf43 ENST00000316937 human ensembl 69_37n -1 known splice_site c.637+2 e3+2 1.000 - - - no_errors C7orf43 HGNC ENSG00000146826 152 1 0.65 148 30 16.85 - - - C7orf62 0 genome.wustl.edu 37 7 88423977 88423977 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 88423977 88423977 T G SNP C7orf62 ENST00000297203 human ensembl 69_37n -1 known missense c.280 p.T94P 0.057 NULL NULL - no_errors C7orf62 HGNC ENSG00000164645 203 1 0.49 164 20 10.81 - - - C8orf44 0 genome.wustl.edu 37 8 67590111 67590111 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 67590111 67590111 A C SNP C8orf44 ENST00000390159 human ensembl 69_37n +1 known silent c.168 p.S56 0.001 NULL NULL - no_errors C8orf44 HGNC ENSG00000213865 47 0 0.00 38 17 30.91 - - - C8orf74 0 genome.wustl.edu 37 8 10555289 10555289 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 10555289 10555289 A C SNP C8orf74 ENST00000304519 human ensembl 69_37n +1 known missense c.422 p.H141P 0.000 NULL NULL - no_errors C8orf74 HGNC ENSG00000171060 126 1 0.79 109 23 17.16 - - - C9orf131 0 genome.wustl.edu 37 9 35043448 35043448 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 35043448 35043448 A C SNP C9orf131 ENST00000312292 human ensembl 69_37n +1 known silent c.822 p.P274 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 442 4 0.89 357 55 13.35 - - - C9orf131 0 genome.wustl.edu 37 9 35044318 35044318 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 35044318 35044318 A C SNP C9orf131 ENST00000312292 human ensembl 69_37n +1 known silent c.1692 p.P564 0.005 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 450 1 0.22 343 67 16.26 - - - C9orf131 0 genome.wustl.edu 37 9 35045220 35045220 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 35045220 35045220 A C SNP C9orf131 ENST00000312292 human ensembl 69_37n +1 known missense c.2594 p.H865P 0.002 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 621 5 0.79 485 59 10.77 - - - C9orf131 0 genome.wustl.edu 37 9 35045544 35045544 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 35045544 35045544 A C SNP C9orf131 ENST00000312292 human ensembl 69_37n +1 known missense c.2918 p.H973P 0.015 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 271 1 0.37 170 26 13.27 - - - C9orf152 0 genome.wustl.edu 37 9 112963655 112963655 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 112963655 112963655 A C SNP C9orf152 ENST00000400613 human ensembl 69_37n -1 known missense c.293 p.V98G 0.000 NULL NULL - no_errors C9orf152 HGNC ENSG00000188959 159 1 0.62 139 19 12.03 - - - C9orf174 0 genome.wustl.edu 37 9 100105751 100105751 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 100105751 100105751 A C SNP C9orf174 ENST00000375202 human ensembl 69_37n +1 known missense c.2536 p.T846P 0.000 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 148 1 0.66 102 24 19.05 - - - C9orf174 0 genome.wustl.edu 37 9 100137824 100137824 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 100137824 100137824 A C SNP C9orf174 ENST00000375202 human ensembl 69_37n +1 known missense c.4927 p.T1643P 0.860 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 113 0 0.00 65 28 29.79 - - - C9orf24 0 genome.wustl.edu 37 9 34382668 34382668 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 34382668 34382668 T G SNP C9orf24 ENST00000444429 human ensembl 69_37n -1 known silent c.376 NULL 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C9orf24 HGNC ENSG00000164972 49 0 0.00 43 12 21.82 - - - C9orf43 0 genome.wustl.edu 37 9 116186588 116186588 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 116186588 116186588 A C SNP C9orf43 ENST00000288462 human ensembl 69_37n +1 known missense c.799 p.T267P 1.000 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 206 1 0.48 186 38 16.96 - - - C9orf84 0 genome.wustl.edu 37 9 114454525 114454525 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 114454525 114454525 T G SNP C9orf84 ENST00000318737 human ensembl 69_37n -1 known silent c.3540 p.P1180 0.006 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 132 0 0.00 80 14 14.74 - - - CA10 0 genome.wustl.edu 37 17 50212250 50212250 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 50212250 50212250 A C SNP CA10 ENST00000340813 human ensembl 69_37n -1 known missense c.68 p.V23G 0.000 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 202 0 0.00 174 41 18.98 - - - CA10 0 genome.wustl.edu 37 17 50212256 50212256 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 50212256 50212256 A C SNP CA10 ENST00000340813 human ensembl 69_37n -1 known missense c.62 p.V21G 0.001 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 199 2 1.00 182 36 16.44 - - - CACHD1 0 genome.wustl.edu 37 1 65047927 65047927 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 65047927 65047927 A C SNP CACHD1 ENST00000371073 human ensembl 69_37n +1 known missense c.350 p.H117P 1.000 pfam_VWA_N pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 127 0 0.00 83 21 20.19 - - - CACNA1C 0 genome.wustl.edu 37 12 2795350 2795350 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 2795350 2795350 A C SNP CACNA1C ENST00000399634 human ensembl 69_37n +1 known missense c.5912 p.H1971P 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 102 1 0.97 119 17 12.50 - - - CACNA1D 0 genome.wustl.edu 37 3 53839164 53839164 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 53839164 53839164 A C SNP CACNA1D ENST00000288139 human ensembl 69_37n +1 known missense c.5800 p.T1934P 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 137 1 0.72 133 35 20.83 - - - CACNA1E 0 genome.wustl.edu 37 1 181690905 181690905 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 181690905 181690905 T G SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known silent c.1968 p.G656 0.498 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 58 0 0.00 103 16 13.45 - - - CACNA1F 0 genome.wustl.edu 37 X 49072933 49072933 + Missense_Mutation SNP G G A TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 49072933 49072933 G A SNP CACNA1F ENST00000376265 human ensembl 69_37n -1 known missense c.3178 p.R1060W 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 22 0 0.00 27 15 34.88 - - - CACNA1I 0 genome.wustl.edu 37 22 40030725 40030725 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 40030725 40030725 A C SNP CACNA1I ENST00000336649 human ensembl 69_37n +1 known missense c.736 p.T246P 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 93 0 0.00 49 14 22.22 - - - CACNA2D3 0 genome.wustl.edu 37 3 55108164 55108164 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 55108164 55108164 T G SNP CACNA2D3 ENST00000288197 human ensembl 69_37n +1 known silent c.3207 p.G1069 0.997 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 260 0 0.00 203 31 13.25 - - - CADPS 0 genome.wustl.edu 37 3 62578370 62578370 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 62578370 62578370 A C SNP CADPS ENST00000383710 human ensembl 69_37n -1 known missense c.1379 p.V460G 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 161 1 0.61 151 26 14.61 - - - CAMK1G 0 genome.wustl.edu 37 1 209785219 209785219 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 209785219 209785219 T G SNP CAMK1G ENST00000009105 human ensembl 69_37n +1 known missense c.998 p.V333G 0.009 superfamily_Kinase-like_dom 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 CAMK1G HGNC ENSG00000008118 165 1 0.60 214 30 12.10 - - - CAMK2A 0 genome.wustl.edu 37 5 149633074 149633074 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 149633074 149633074 A C SNP CAMK2A ENST00000398376 human ensembl 69_37n -1 known silent c.447 p.G149 0.777 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 pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2A HGNC ENSG00000070808 68 0 0.00 46 19 29.23 - - - CAMK2A 0 genome.wustl.edu 37 5 149636385 149636385 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 149636385 149636385 A C SNP CAMK2A ENST00000398376 human ensembl 69_37n -1 known silent c.282 p.G94 0.618 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 pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2A HGNC ENSG00000070808 34 0 0.00 25 5 16.67 - - - CAPRIN2 0 genome.wustl.edu 37 12 30863399 30863399 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 30863399 30863399 A C SNP CAPRIN2 ENST00000251071 human ensembl 69_37n -1 known missense c.2821 p.W941G 1.000 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 231 0 0.00 181 52 22.22 - - - CAPRIN2 0 genome.wustl.edu 37 12 30872034 30872034 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 30872034 30872034 T G SNP CAPRIN2 ENST00000251071 human ensembl 69_37n -1 known silent c.2274 p.A758 0.036 pfam_Caprin-1_C pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 292 0 0.00 185 52 21.94 - - - CASK 0 genome.wustl.edu 37 X 41393988 41393988 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 41393988 41393988 T G SNP CASK ENST00000378163 human ensembl 69_37n -1 known missense c.2288 p.H763P 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC ENSG00000147044 159 1 0.62 155 26 14.21 - - - CASP1 0 genome.wustl.edu 37 11 104905108 104905108 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 104905108 104905108 A C SNP CASP1 ENST00000436863 human ensembl 69_37n -1 known missense c.101 p.V34G 0.972 pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP1 HGNC ENSG00000137752 615 1 0.16 426 66 13.39 - - - CASP2 0 genome.wustl.edu 37 7 142989528 142989528 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 142989528 142989528 A C SNP CASP2 ENST00000310447 human ensembl 69_37n +1 known missense c.361 p.T121P 0.796 superfamily_DEATH-like,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP2 HGNC ENSG00000106144 126 1 0.78 71 19 21.11 - - - CASR 0 genome.wustl.edu 37 3 121981022 121981022 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 121981022 121981022 T G SNP CASR ENST00000498619 human ensembl 69_37n +1 known missense c.1140 p.S380R 0.013 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 178 0 0.00 150 22 12.79 - - - CBL 0 genome.wustl.edu 37 11 119158602 119158602 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 119158602 119158602 A C SNP CBL ENST00000264033 human ensembl 69_37n +1 known missense c.1982 p.H661P 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 111 1 0.89 143 17 10.62 - - - CBLB 0 genome.wustl.edu 37 3 105422910 105422910 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 105422910 105422910 T G SNP CBLB ENST00000264122 human ensembl 69_37n -1 known silent c.1515 p.P505 0.995 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 114 0 0.00 86 20 18.69 - - - CBLL1 0 genome.wustl.edu 37 7 107399335 107399335 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 107399335 107399335 A C SNP CBLL1 ENST00000440859 human ensembl 69_37n +1 known silent c.1188 p.P396 1.000 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 452 2 0.44 497 65 11.57 - - - CBLL1 0 genome.wustl.edu 37 7 107399371 107399371 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 107399371 107399371 A C SNP CBLL1 ENST00000440859 human ensembl 69_37n +1 known silent c.1224 p.P408 0.746 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 383 1 0.26 364 71 16.25 - - - CBLL1 0 genome.wustl.edu 37 7 107399569 107399569 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 107399569 107399569 A C SNP CBLL1 ENST00000440859 human ensembl 69_37n +1 known silent c.1422 p.P474 0.984 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 205 0 0.00 228 29 11.24 - - - CBR1 0 genome.wustl.edu 37 21 37445034 37445034 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 37445034 37445034 T G SNP CBR1 ENST00000290349 human ensembl 69_37n +1 known missense c.688 p.W230G 1.000 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors CBR1 HGNC ENSG00000159228 43 0 0.00 32 8 20.00 - - - CBY1 0 genome.wustl.edu 37 22 39066996 39066996 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 39066996 39066996 T G SNP CBY1 ENST00000216029 human ensembl 69_37n +1 known splice_site c.184+2 e2+2 1.000 - - - no_errors CBY1 HGNC ENSG00000100211 71 0 0.00 79 17 17.71 - - - CC2D1A 0 genome.wustl.edu 37 19 14029385 14029385 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 14029385 14029385 A C SNP CC2D1A ENST00000586955 human ensembl 69_37n +1 known missense c.479 p.H160P 0.999 smart_DM14 smart_DM14 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CC2D1A HGNC ENSG00000132024 42 0 0.00 41 9 18.00 - - - CC2D1A 0 genome.wustl.edu 37 19 14037405 14037405 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 14037405 14037405 T G SNP CC2D1A ENST00000318003 human ensembl 69_37n +1 known splice_site c.2014+2 e18+2 1.000 - - - no_errors CC2D1A HGNC ENSG00000132024 33 0 0.00 53 14 20.90 - - - CCBP2 0 genome.wustl.edu 37 3 42906995 42906995 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 42906995 42906995 A C SNP CCBP2 ENST00000273145 human ensembl 69_37n +1 known missense c.1001 p.H334P 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4 - no_errors CCBP2 HGNC ENSG00000144648 308 0 0.00 345 65 15.78 - - - CCDC129 0 genome.wustl.edu 37 7 31692330 31692330 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 31692330 31692330 A C SNP CCDC129 ENST00000407970 human ensembl 69_37n +1 known missense c.3022 p.T1008P 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 149 1 0.66 140 17 10.76 - - - CCDC132 0 genome.wustl.edu 37 7 92970797 92970797 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 92970797 92970797 T G SNP CCDC132 ENST00000305866 human ensembl 69_37n +1 known missense c.2117 p.V706G 0.999 NULL pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 184 0 0.00 138 34 19.65 - - - CCDC144C 0 genome.wustl.edu 37 17 20245903 20245903 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 20245903 20245903 A C SNP CCDC144C ENST00000580574 human ensembl 69_37n +1 known rna NULL NULL 0.019 - - - no_errors CCDC144C HGNC ENSG00000154898 53 0 0.00 31 10 24.39 - - - CCDC147 0 genome.wustl.edu 37 10 106166489 106166489 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 106166489 106166489 A C SNP CCDC147 ENST00000369704 human ensembl 69_37n +1 known missense c.2194 p.T732P 0.980 superfamily_Homeodomain-like superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 292 1 0.34 232 33 12.45 - - - CCDC15 0 genome.wustl.edu 37 11 124857166 124857166 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 124857166 124857166 T G SNP CCDC15 ENST00000344762 human ensembl 69_37n +1 known silent c.1044 p.G348 0.001 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 375 1 0.26 249 40 13.70 - - - CCDC158 0 genome.wustl.edu 37 4 77276580 77276580 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 77276580 77276580 A C SNP CCDC158 ENST00000388914 human ensembl 69_37n -1 known missense c.2183 p.V728G 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 240 0 0.00 210 31 12.81 - - - CCDC164 0 genome.wustl.edu 37 2 26653667 26653667 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 26653667 26653667 T G SNP CCDC164 ENST00000288710 human ensembl 69_37n +1 known missense c.692 p.V231G 0.061 NULL NULL - no_errors CCDC164 HGNC ENSG00000157856 221 0 0.00 218 26 10.66 - - - CCDC167 0 genome.wustl.edu 37 6 37450897 37450897 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 37450897 37450897 T G SNP CCDC167 ENST00000411755 human ensembl 69_37n -1 known silent c.306 p.A102 0.649 NULL NULL - no_stop_codon CCDC167 HGNC ENSG00000198937 33 0 0.00 10 5 33.33 - - - CCDC18 0 genome.wustl.edu 37 1 93721980 93721980 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 93721980 93721980 T G SNP CCDC18 ENST00000557479 human ensembl 69_37n +1 known missense c.3785 p.V1262G 0.931 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 223 0 0.00 151 20 11.70 - - - CCDC36 0 genome.wustl.edu 37 3 49293985 49293985 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 49293985 49293985 T G SNP CCDC36 ENST00000296449 human ensembl 69_37n +1 known missense c.1055 p.V352G 0.005 NULL NULL - no_errors CCDC36 HGNC ENSG00000173421 130 1 0.76 106 21 16.28 - - - CCDC63 0 genome.wustl.edu 37 12 111321894 111321894 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 111321894 111321894 T G SNP CCDC63 ENST00000308208 human ensembl 69_37n +1 known missense c.914 p.V305G 1.000 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 169 1 0.58 201 27 11.74 - - - CCDC67 0 genome.wustl.edu 37 11 93148214 93148214 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 93148214 93148214 A C SNP CCDC67 ENST00000298050 human ensembl 69_37n +1 known silent c.1572 p.P524 0.003 NULL superfamily_MHC_II-assoc_invariant_trimer - no_errors CCDC67 HGNC ENSG00000165325 191 0 0.00 145 29 16.57 - - - CCDC69 0 genome.wustl.edu 37 5 150578644 150578644 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 150578644 150578644 A C SNP CCDC69 ENST00000355417 human ensembl 69_37n -1 known missense c.233 p.V78G 1.000 NULL superfamily_ER_p29_C - no_errors CCDC69 HGNC ENSG00000198624 137 1 0.72 149 38 20.32 - - - CCHCR1 0 genome.wustl.edu 37 6 31112541 31112541 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 31112541 31112541 A C SNP CCHCR1 ENST00000396268 human ensembl 69_37n -1 known missense c.2090 p.V697G 1.000 pfam_HCR pfam_HCR - no_errors CCHCR1 HGNC ENSG00000204536 154 0 0.00 105 22 17.32 - - - CCIN 0 genome.wustl.edu 37 9 36170027 36170027 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 36170027 36170027 A C SNP CCIN ENST00000335119 human ensembl 69_37n +1 known silent c.528 p.P176 0.379 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors CCIN HGNC ENSG00000185972 80 0 0.00 43 8 15.69 - - - CCKAR 0 genome.wustl.edu 37 4 26483742 26483742 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 26483742 26483742 A C SNP CCKAR ENST00000295589 human ensembl 69_37n -1 known missense c.805 p.C269G 0.995 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Cholcskin_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC ENSG00000163394 109 0 0.00 57 18 23.68 - - - CCKBR 0 genome.wustl.edu 37 11 6292390 6292390 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 6292390 6292390 A C SNP CCKBR ENST00000525462 human ensembl 69_37n +1 known missense c.1168 p.T390P 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors CCKBR HGNC ENSG00000110148 51 0 0.00 75 15 16.48 - - - CCL26 0 genome.wustl.edu 37 7 75399054 75399054 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 75399054 75399054 A C SNP CCL26 ENST00000005180 human ensembl 69_37n -1 known missense c.242 p.V81G 0.862 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL26 HGNC ENSG00000006606 35 0 0.00 44 8 15.38 - - - CCNK 0 genome.wustl.edu 37 14 99973477 99973477 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 99973477 99973477 A C SNP CCNK ENST00000389879 human ensembl 69_37n +1 known silent c.1110 p.P370 0.996 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNK HGNC ENSG00000090061 148 0 0.00 101 20 16.39 - - - CCNY 0 genome.wustl.edu 37 10 35818948 35818948 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 35818948 35818948 A C SNP CCNY ENST00000374704 human ensembl 69_37n +1 known missense c.449 p.H150P 1.000 superfamily_Cyclin-like,pirsf_Cyclin_Y pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y - no_errors CCNY HGNC ENSG00000108100 281 0 0.00 214 35 14.00 - - - CCR1 0 genome.wustl.edu 37 3 46245261 46245261 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 46245261 46245261 T G SNP CCR1 ENST00000296140 human ensembl 69_37n -1 known missense c.544 p.T182P 0.478 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR1,prints_Chemokine_CCR5 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 247 1 0.40 163 23 12.30 - - - CCRL2 0 genome.wustl.edu 37 3 46450531 46450531 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 46450531 46450531 A C SNP CCRL2 ENST00000357392 human ensembl 69_37n +1 known missense c.997 p.T333P 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CCRL2 HGNC ENSG00000121797 296 0 0.00 210 51 19.47 - - - CCT8 0 genome.wustl.edu 37 21 30432943 30432943 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 30432943 30432943 A C SNP CCT8 ENST00000432178 human ensembl 69_37n -1 putative missense c.163 p.Y55D 0.145 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CCT8 HGNC ENSG00000156261 149 1 0.67 111 21 15.91 - - - CD163 0 genome.wustl.edu 37 12 7647966 7647966 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 7647966 7647966 A C SNP CD163 ENST00000359156 human ensembl 69_37n -1 known silent c.1131 p.G377 0.999 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors CD163 HGNC ENSG00000177575 155 1 0.64 227 41 15.30 - - - CD163L1 0 genome.wustl.edu 37 12 7559417 7559417 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 7559417 7559417 A C SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known silent c.798 p.G266 0.002 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 162 0 0.00 175 38 17.84 - - - CD163L1 0 genome.wustl.edu 37 12 7586250 7586250 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 7586250 7586250 A C SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known silent c.165 p.G55 0.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 277 2 0.72 178 36 16.74 - - - CD163L1 0 genome.wustl.edu 37 12 7586263 7586263 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 7586263 7586263 A C SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known missense c.152 p.V51G 0.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 253 1 0.39 184 43 18.94 - - - CD180 0 genome.wustl.edu 37 5 66492438 66492438 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 66492438 66492438 A C SNP CD180 ENST00000256447 human ensembl 69_37n -1 known missense c.32 p.V11G 0.053 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CD180 HGNC ENSG00000134061 258 1 0.39 208 32 13.33 - - - CD19 0 genome.wustl.edu 37 16 28943404 28943404 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 28943404 28943404 T G SNP CD19 ENST00000538922 human ensembl 69_37n +1 known missense c.83 p.V28G 0.989 smart_Ig_sub,pfscan_Ig-like smart_Ig_sub,pfscan_Ig-like - no_errors CD19 HGNC ENSG00000177455 189 1 0.52 197 33 14.29 - - - CD2 0 genome.wustl.edu 37 1 117311360 117311360 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 117311360 117311360 T C SNP CD2 ENST00000369478 human ensembl 69_37n +1 known silent c.1011 p.P337 0.112 NULL pfam_Ig_C2-set,pfam_Ig_V-set,prints_T-cell_sdhesion_molc_CD2 - no_errors CD2 HGNC ENSG00000116824 149 0 0.00 769 87 10.09 - - - CD28 0 genome.wustl.edu 37 2 204599576 204599576 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 204599576 204599576 A C SNP CD28 ENST00000324106 human ensembl 69_37n +1 known missense c.604 p.T202P 0.355 prints_CD28 pfam_Ig_V-set,smart_Ig_V-set_subgr,prints_CD28 - no_errors CD28 HGNC ENSG00000178562 135 1 0.74 131 19 12.67 - - - CD2AP 0 genome.wustl.edu 37 6 47563748 47563748 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 47563748 47563748 A C SNP CD2AP ENST00000359314 human ensembl 69_37n +1 known silent c.1260 p.P420 0.995 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors CD2AP HGNC ENSG00000198087 732 3 0.41 510 125 19.62 - - - CD37 0 genome.wustl.edu 37 19 49842126 49842126 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 49842126 49842126 A C SNP CD37 ENST00000323906 human ensembl 69_37n +1 known missense c.617 p.H206P 0.001 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD37 HGNC ENSG00000104894 79 0 0.00 41 16 28.07 - - - CD37 0 genome.wustl.edu 37 19 49842690 49842690 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 49842690 49842690 A C SNP CD37 ENST00000535669 human ensembl 69_37n +1 known missense c.788 p.H263P 0.000 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD37 HGNC ENSG00000104894 107 1 0.90 72 14 16.28 - - - CD3E 0 genome.wustl.edu 37 11 118183471 118183471 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 118183471 118183471 A C SNP CD3E ENST00000361763 human ensembl 69_37n +1 known missense c.242 p.H81P 0.000 smart_Ig_sub2 pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3E HGNC ENSG00000198851 293 0 0.00 226 27 10.63 - - - CD44 0 genome.wustl.edu 37 11 35227752 35227752 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 35227752 35227752 A C SNP CD44 ENST00000428726 human ensembl 69_37n +1 known missense c.1376 p.H459P 1.000 NULL pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link - no_errors CD44 HGNC ENSG00000026508 169 0 0.00 172 28 14.00 - - - CD86 0 genome.wustl.edu 37 3 121825334 121825334 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 121825334 121825334 A C SNP CD86 ENST00000478741 human ensembl 69_37n +1 novel missense c.676 p.T226P 0.006 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CD86 HGNC ENSG00000114013 263 2 0.75 237 52 17.93 - - - CD96 0 genome.wustl.edu 37 3 111298154 111298154 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 111298154 111298154 A C SNP CD96 ENST00000465428 human ensembl 69_37n +1 putative silent c.348 p.A116 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CD96 HGNC ENSG00000153283 74 0 0.00 39 23 36.51 - - - CD97 0 genome.wustl.edu 37 19 14508749 14508749 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 14508749 14508749 T G SNP CD97 ENST00000242786 human ensembl 69_37n +1 known splice_site c.819+2 e8+2 1.000 - - - no_errors CD97 HGNC ENSG00000123146 27 0 0.00 35 13 26.00 - - - CD99L2 0 genome.wustl.edu 37 X 149984484 149984484 + Silent SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 149984484 149984484 A G SNP CD99L2 ENST00000370377 human ensembl 69_37n -1 known silent c.198 p.P66 0.145 NULL pfam_CD99L2 - no_errors CD99L2 HGNC ENSG00000102181 143 0 0.00 166 23 12.17 - - - CDC14A 0 genome.wustl.edu 37 1 100964771 100964771 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 100964771 100964771 A C SNP CDC14A ENST00000361544 human ensembl 69_37n +1 known missense c.1708 p.T570P 0.351 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 315 0 0.00 184 22 10.53 - - - CDC42EP3 0 genome.wustl.edu 37 2 37873463 37873463 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 37873463 37873463 T G SNP CDC42EP3 ENST00000295324 human ensembl 69_37n -1 known missense c.268 p.T90P 1.000 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP3 HGNC ENSG00000163171 154 0 0.00 103 18 14.88 - - - CDH1 0 genome.wustl.edu 37 16 68849663 68849663 + Splice_Site SNP G G A TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 68849663 68849663 G A SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known splice_site c.1565+1 e10+1 1.000 - - - no_errors CDH1 HGNC ENSG00000039068 207 0 0.00 160 81 33.61 - - - CDH19 0 genome.wustl.edu 37 18 64172430 64172430 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 64172430 64172430 A C SNP CDH19 ENST00000262150 human ensembl 69_37n -1 known silent c.1938 p.G646 0.053 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH19 HGNC ENSG00000071991 314 2 0.63 227 36 13.69 - - - CDHR1 0 genome.wustl.edu 37 10 85972884 85972884 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 85972884 85972884 T G SNP CDHR1 ENST00000372117 human ensembl 69_37n +1 known missense c.1820 p.V607G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 140 0 0.00 112 22 16.30 - - - CDK2 0 genome.wustl.edu 37 12 56361581 56361581 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 56361581 56361581 T G SNP CDK2 ENST00000556146 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CDK2 HGNC ENSG00000123374 38 0 0.00 35 25 40.32 - - - CDK5RAP1 0 genome.wustl.edu 37 20 31984825 31984825 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 31984825 31984825 A C SNP CDK5RAP1 ENST00000357886 human ensembl 69_37n -1 known missense c.46 p.W16G 0.000 NULL pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase - no_errors CDK5RAP1 HGNC ENSG00000101391 110 0 0.00 175 30 14.56 - - - CDKAL1 0 genome.wustl.edu 37 6 21231400 21231400 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 21231400 21231400 A C SNP CDKAL1 ENST00000476517 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CDKAL1 HGNC ENSG00000145996 27 0 0.00 19 6 23.08 - - - CDKL1 0 genome.wustl.edu 37 14 50844974 50844974 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 50844974 50844974 A C SNP CDKL1 ENST00000356146 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors CDKL1 HGNC ENSG00000100490 86 0 0.00 58 14 19.44 - - - CDKL5 0 genome.wustl.edu 37 X 18622626 18622626 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 18622626 18622626 A C SNP CDKL5 ENST00000379989 human ensembl 69_37n +1 known missense c.1582 p.T528P 0.997 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 CDKL5 HGNC ENSG00000008086 423 3 0.70 382 89 18.86 - - - CDON 0 genome.wustl.edu 37 11 125851170 125851170 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 125851170 125851170 A C SNP CDON ENST00000392693 human ensembl 69_37n -1 known missense c.3050 p.V1017G 1.000 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 CDON HGNC ENSG00000064309 140 0 0.00 113 18 13.74 - - - CDON 0 genome.wustl.edu 37 11 125867161 125867161 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 125867161 125867161 A C SNP CDON ENST00000392693 human ensembl 69_37n -1 known missense c.2303 p.V768G 0.994 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 CDON HGNC ENSG00000064309 165 0 0.00 110 24 17.91 - - - CDS2 0 genome.wustl.edu 37 20 5154191 5154191 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 5154191 5154191 T G SNP CDS2 ENST00000460006 human ensembl 69_37n +1 known missense c.80 p.V27G 0.000 pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS2 HGNC ENSG00000101290 226 1 0.44 158 20 11.05 - - - CDS2 0 genome.wustl.edu 37 20 5156090 5156090 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 5156090 5156090 A C SNP CDS2 ENST00000486875 human ensembl 69_37n +1 known rna NULL NULL 0.023 - - - no_errors CDS2 HGNC ENSG00000101290 33 0 0.00 25 7 21.88 - - - CDSN 0 genome.wustl.edu 37 6 31085092 31085092 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 31085092 31085092 A C SNP CDSN ENST00000376288 human ensembl 69_37n -1 known silent c.300 p.G100 0.002 NULL NULL - no_errors CDSN HGNC ENSG00000204539 32 0 0.00 33 7 17.50 - - - CDYL 0 genome.wustl.edu 37 6 4943915 4943915 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 4943915 4943915 A C SNP CDYL ENST00000328908 human ensembl 69_37n +1 known silent c.1419 p.T473 0.970 pfam_Crotonase_core pfam_Crotonase_core,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 104 1 0.95 80 20 20.00 - - - CEACAM1 0 genome.wustl.edu 37 19 43026091 43026091 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 43026091 43026091 T G SNP CEACAM1 ENST00000161559 human ensembl 69_37n -1 known missense c.688 p.T230P 0.001 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM1 HGNC ENSG00000079385 198 1 0.50 189 32 14.48 - - - CEACAM1 0 genome.wustl.edu 37 19 43031415 43031415 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 43031415 43031415 A C SNP CEACAM1 ENST00000161559 human ensembl 69_37n -1 known missense c.202 p.Y68D 0.663 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM1 HGNC ENSG00000079385 281 1 0.35 195 30 13.27 - - - CEACAM19 0 genome.wustl.edu 37 19 45179602 45179602 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 45179602 45179602 A C SNP CEACAM19 ENST00000403660 human ensembl 69_37n +1 known missense c.484 p.T162P 0.342 NULL pfam_Ig_V-set - no_errors CEACAM19 HGNC ENSG00000186567 126 1 0.78 170 21 10.94 - - - CEACAM5 0 genome.wustl.edu 37 19 42222138 42222138 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 42222138 42222138 A C SNP CEACAM5 ENST00000398599 human ensembl 69_37n +1 novel missense c.1315 p.T439P 0.002 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CEACAM5 HGNC ENSG00000105388 131 0 0.00 101 15 12.93 - - - CEACAM7 0 genome.wustl.edu 37 19 42187731 42187731 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 42187731 42187731 T G SNP CEACAM7 ENST00000006724 human ensembl 69_37n -1 known missense c.691 p.T231P 0.732 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors CEACAM7 HGNC ENSG00000007306 287 1 0.35 227 31 12.02 - - - CEACAM8 0 genome.wustl.edu 37 19 43093816 43093816 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 43093816 43093816 T G SNP CEACAM8 ENST00000244336 human ensembl 69_37n -1 known missense c.496 p.T166P 0.001 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM8 HGNC ENSG00000124469 428 2 0.46 313 38 10.80 - - - CECR2 0 genome.wustl.edu 37 22 18028673 18028673 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 18028673 18028673 A C SNP CECR2 ENST00000400573 human ensembl 69_37n +1 novel silent c.3630 p.P1210 0.002 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 67 0 0.00 70 14 16.47 - - - CELSR3 0 genome.wustl.edu 37 3 48696841 48696841 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 48696841 48696841 A C SNP CELSR3 ENST00000544264 human ensembl 69_37n -1 known missense c.3227 p.V1076G 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 157 1 0.63 44 12 21.43 - - - CENPJ 0 genome.wustl.edu 37 13 25480610 25480610 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 25480610 25480610 A C SNP CENPJ ENST00000381884 human ensembl 69_37n -1 known silent c.1566 p.G522 0.000 NULL pfam_Tcp10/CenJ_C - no_errors CENPJ HGNC ENSG00000151849 177 1 0.56 115 23 16.67 - - - CEP104 0 genome.wustl.edu 37 1 3739736 3739736 + Splice_Site SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 3739736 3739736 A C SNP CEP104 ENST00000378230 human ensembl 69_37n -1 known splice_site c.2571+2 e19+2 1.000 - - - no_errors CEP104 HGNC ENSG00000116198 230 2 0.85 223 36 13.90 - - - CEP128 0 genome.wustl.edu 37 14 81259283 81259283 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 81259283 81259283 A C SNP CEP128 ENST00000281129 human ensembl 69_37n -1 known missense c.1381 p.Y461D 1.000 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 254 1 0.39 188 28 12.96 - - - CEP152 0 genome.wustl.edu 37 15 49081140 49081140 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 49081140 49081140 A C SNP CEP152 ENST00000380950 human ensembl 69_37n -1 known missense c.1031 p.V344G 0.996 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 278 2 0.71 220 44 16.60 - - - CEP192 0 genome.wustl.edu 37 18 13103575 13103575 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 13103575 13103575 A C SNP CEP192 ENST00000589993 human ensembl 69_37n +1 known missense c.2582 p.H861P 0.786 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CEP192 HGNC ENSG00000101639 136 0 0.00 91 16 14.95 - - - CEP250 0 genome.wustl.edu 37 20 34095934 34095934 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 34095934 34095934 A C SNP CEP250 ENST00000397527 human ensembl 69_37n +1 known missense c.6821 p.H2274P 0.002 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 233 1 0.42 153 35 18.52 - - - CEP290 0 genome.wustl.edu 37 12 88465679 88465679 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 88465679 88465679 A C SNP CEP290 ENST00000309041 human ensembl 69_37n -1 known missense c.5740 p.W1914G 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 43 0 0.00 35 8 18.60 - - - CEP95 0 genome.wustl.edu 37 17 62518907 62518907 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 62518907 62518907 A C SNP CEP95 ENST00000556440 human ensembl 69_37n +1 known missense c.803 p.H268P 0.998 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 79 0 0.00 50 18 26.47 - - - CES5A 0 genome.wustl.edu 37 16 55880467 55880467 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 55880467 55880467 T G SNP CES5A ENST00000521992 human ensembl 69_37n -1 known missense c.1711 p.T571P 0.001 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 679 5 0.73 596 106 15.08 - - - CFI 0 genome.wustl.edu 37 4 110681502 110681502 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 110681502 110681502 A C SNP CFI ENST00000394634 human ensembl 69_37n -1 known silent c.807 p.G269 0.990 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_LDrepeatLR_classA_rpt,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CFI HGNC ENSG00000205403 219 1 0.45 193 27 12.22 - - - CHAF1B 0 genome.wustl.edu 37 21 37763873 37763873 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 37763873 37763873 T G SNP CHAF1B ENST00000314103 human ensembl 69_37n +1 known missense c.284 p.V95G 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B - no_errors CHAF1B HGNC ENSG00000159259 41 0 0.00 30 21 41.18 - - - CHD3 0 genome.wustl.edu 37 17 7809929 7809929 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7809929 7809929 A C SNP CHD3 ENST00000330494 human ensembl 69_37n +1 known missense c.4417 p.T1473P 1.000 pfam_DUF1086 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 301 1 0.33 166 22 11.70 - - - CHD4 0 genome.wustl.edu 37 12 6692026 6692026 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 6692026 6692026 A C SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known silent c.4308 p.G1436 0.981 pfam_DUF1086 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 236 0 0.00 231 31 11.83 - - - CHD4 0 genome.wustl.edu 37 12 6697021 6697021 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 6697021 6697021 A C SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known missense c.3560 p.V1187G 1.000 pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 228 1 0.44 177 40 18.35 - - - CHD4 0 genome.wustl.edu 37 12 6700887 6700887 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 6700887 6700887 A C SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known silent c.3195 p.G1065 0.650 pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 297 2 0.67 287 59 17.00 - - - CHD6 0 genome.wustl.edu 37 20 40113147 40113147 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 40113147 40113147 A C SNP CHD6 ENST00000373233 human ensembl 69_37n -1 known missense c.2102 p.V701G 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 267 2 0.74 184 28 13.15 - - - CHD7 0 genome.wustl.edu 37 8 61655094 61655094 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 61655094 61655094 A C SNP CHD7 ENST00000307121 human ensembl 69_37n +1 known missense c.1103 p.H368P 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 192 1 0.52 133 26 16.35 - - - CHD7 0 genome.wustl.edu 37 8 61769134 61769134 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 61769134 61769134 T G SNP CHD7 ENST00000307121 human ensembl 69_37n +1 known missense c.7295 p.V2432G 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 118 0 0.00 82 21 20.39 - - - CHD8 0 genome.wustl.edu 37 14 21897307 21897307 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 21897307 21897307 A C SNP CHD8 ENST00000399982 human ensembl 69_37n -1 known missense c.1031 p.V344G 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 91 0 0.00 49 16 24.62 - - - CHD9 0 genome.wustl.edu 37 16 53358021 53358021 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 53358021 53358021 T G SNP CHD9 ENST00000398510 human ensembl 69_37n +1 known missense c.7908 p.S2636R 0.998 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 168 1 0.59 93 17 15.45 - - - CHEK2P2 0 genome.wustl.edu 37 15 20488818 20488818 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 20488818 20488818 A C SNP CHEK2P2 ENST00000555186 human ensembl 69_37n +1 known rna NULL NULL 0.997 - - - no_errors CHEK2P2 HGNC ENSG00000259156 312 0 0.00 384 51 11.59 - - - CHERP 0 genome.wustl.edu 37 19 16631269 16631269 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 16631269 16631269 A G SNP CHERP ENST00000546361 human ensembl 69_37n -1 known missense c.2251 p.S751P 0.998 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 36 0 0.00 31 5 13.89 - - - CHFR 0 genome.wustl.edu 37 12 133448755 133448755 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 133448755 133448755 T G SNP CHFR ENST00000536196 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors CHFR HGNC ENSG00000072609 52 0 0.00 48 16 25.00 - - - CHGB 0 genome.wustl.edu 37 20 5897634 5897634 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 5897634 5897634 A C SNP CHGB ENST00000488832 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors CHGB HGNC ENSG00000089199 86 0 0.00 79 25 24.04 - - - CHN2 0 genome.wustl.edu 37 7 29519839 29519839 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 29519839 29519839 T G SNP CHN2 ENST00000424025 human ensembl 69_37n +1 known splice_site c.111+2 e1+2 1.000 - - - no_errors CHN2 HGNC ENSG00000106069 146 0 0.00 88 23 20.72 - - - CHP1 0 genome.wustl.edu 37 15 41555044 41555044 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 41555044 41555044 A C SNP CHP1 ENST00000560965 human ensembl 69_37n +1 putative missense c.172 p.T58P 0.999 NULL pfscan_EF_HAND_2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CHP1 HGNC ENSG00000187446 137 1 0.72 170 36 17.39 - - - CHRD 0 genome.wustl.edu 37 3 184102962 184102962 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 184102962 184102962 A C SNP CHRD ENST00000204604 human ensembl 69_37n +1 known missense c.1754 p.H585P 1.000 pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 64 0 0.00 39 11 21.15 - - - CHRM2 0 genome.wustl.edu 37 7 136699831 136699831 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 136699831 136699831 T G SNP CHRM2 ENST00000320658 human ensembl 69_37n +1 known silent c.219 p.G73 0.978 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 240 0 0.00 149 23 13.29 - - - CHRM2 0 genome.wustl.edu 37 7 136700171 136700171 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 136700171 136700171 A C SNP CHRM2 ENST00000320658 human ensembl 69_37n +1 known missense c.559 p.T187P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 180 0 0.00 139 20 12.50 - - - CHRM2 0 genome.wustl.edu 37 7 136700843 136700843 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 136700843 136700843 A C SNP CHRM2 ENST00000320658 human ensembl 69_37n +1 known missense c.1231 p.T411P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 287 1 0.34 198 29 12.66 - - - CHRNB4 0 genome.wustl.edu 37 15 78921883 78921883 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 78921883 78921883 T G SNP CHRNB4 ENST00000261751 human ensembl 69_37n -1 known missense c.764 p.Y255S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 153 0 0.00 190 26 11.98 - - - CHST15 0 genome.wustl.edu 37 10 125805522 125805522 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 125805522 125805522 A C SNP CHST15 ENST00000346248 human ensembl 69_37n -1 known silent c.207 p.G69 0.992 NULL pfam_Sulfotransferase_dom - no_errors CHST15 HGNC ENSG00000182022 138 0 0.00 159 27 14.52 - - - CHST9 0 genome.wustl.edu 37 18 24496533 24496533 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 24496533 24496533 T G SNP CHST9 ENST00000284224 human ensembl 69_37n -1 known missense c.1022 p.H341P 0.997 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 422 2 0.47 261 37 12.37 - - - CHUK 0 genome.wustl.edu 37 10 101953144 101953144 + Splice_Site SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 101953144 101953144 A C SNP CHUK ENST00000588656 human ensembl 69_37n -1 known splice_site c.NULL NULL 0.649 - - - no_errors CHUK HGNC ENSG00000213341 135 0 0.00 124 25 16.78 - - - CHUK 0 genome.wustl.edu 37 10 101953331 101953331 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 101953331 101953331 A C SNP CHUK ENST00000590930 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors CHUK HGNC ENSG00000213341 50 0 0.00 44 16 26.67 - - - CIAPIN1 0 genome.wustl.edu 37 16 57473134 57473134 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 57473134 57473134 A C SNP CIAPIN1 ENST00000394391 human ensembl 69_37n -1 known silent c.270 p.G90 0.976 NULL pfam_CIAPIN1 - no_errors CIAPIN1 HGNC ENSG00000005194 304 1 0.33 261 40 13.25 - - - CILP 0 genome.wustl.edu 37 15 65490842 65490842 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 65490842 65490842 A C SNP CILP ENST00000261883 human ensembl 69_37n -1 known silent c.1782 p.G594 0.033 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP HGNC ENSG00000138615 104 0 0.00 99 23 18.85 - - - CIT 0 genome.wustl.edu 37 12 120151289 120151289 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 120151289 120151289 A C SNP CIT ENST00000261833 human ensembl 69_37n -1 known missense c.4345 p.W1449G 1.000 smart_Pleckstrin_homology,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC ENSG00000122966 73 0 0.00 78 20 20.41 - - - CIT 0 genome.wustl.edu 37 12 120221812 120221812 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 120221812 120221812 A C SNP CIT ENST00000261833 human ensembl 69_37n -1 known missense c.1445 p.V482G 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC ENSG00000122966 359 3 0.82 203 43 17.41 - - - CIZ1 0 genome.wustl.edu 37 9 130940956 130940956 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 130940956 130940956 A C SNP CIZ1 ENST00000475471 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CIZ1 HGNC ENSG00000148337 56 0 0.00 36 6 14.29 - - - CKMT2 0 genome.wustl.edu 37 5 80562047 80562047 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 80562047 80562047 A C SNP CKMT2 ENST00000254035 human ensembl 69_37n +1 known silent c.1230 p.P410 0.107 NULL pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT2 HGNC ENSG00000131730 241 1 0.41 181 40 18.02 - - - CLASP1 0 genome.wustl.edu 37 2 122217669 122217669 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 122217669 122217669 A C SNP CLASP1 ENST00000452274 human ensembl 69_37n -1 known missense c.407 p.V136G 0.991 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CLASP1 HGNC ENSG00000074054 164 0 0.00 141 30 17.54 - - - CLCA1 0 genome.wustl.edu 37 1 86952379 86952379 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 86952379 86952379 A C SNP CLCA1 ENST00000234701 human ensembl 69_37n +1 known missense c.1125 p.L375F 0.631 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA1 HGNC ENSG00000016490 226 1 0.44 163 35 17.59 - - - CLCA1 0 genome.wustl.edu 37 1 86964397 86964397 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 86964397 86964397 A C SNP CLCA1 ENST00000234701 human ensembl 69_37n +1 known silent c.2256 p.P752 0.962 superfamily_Fibronectin_type3,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA1 HGNC ENSG00000016490 163 1 0.60 108 23 17.56 - - - CLCA2 0 genome.wustl.edu 37 1 86921063 86921063 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 86921063 86921063 A C SNP CLCA2 ENST00000370565 human ensembl 69_37n +1 known silent c.2685 p.V895 0.000 NULL pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 289 0 0.00 153 21 12.07 - - - CLCA4 0 genome.wustl.edu 37 1 87025640 87025640 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 87025640 87025640 A C SNP CLCA4 ENST00000370563 human ensembl 69_37n +1 known missense c.185 p.Y62S 1.000 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 504 0 0.00 356 63 15.00 - - - CLCA4 0 genome.wustl.edu 37 1 87025993 87025993 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 87025993 87025993 A C SNP CLCA4 ENST00000370563 human ensembl 69_37n +1 known missense c.400 p.T134P 1.000 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 255 1 0.39 193 26 11.87 - - - CLCN6 0 genome.wustl.edu 37 1 11898817 11898817 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 11898817 11898817 A C SNP CLCN6 ENST00000376496 human ensembl 69_37n +1 novel missense c.2629 p.T877P 0.000 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 19 0 0.00 15 9 36.00 - - - CLDN1 0 genome.wustl.edu 37 3 190030795 190030795 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 190030795 190030795 A C SNP CLDN1 ENST00000295522 human ensembl 69_37n -1 known missense c.254 p.V85G 0.999 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin1,prints_Claudin14 - no_errors CLDN1 HGNC ENSG00000163347 293 1 0.34 225 25 10.00 - - - CLDN17 0 genome.wustl.edu 37 21 31538402 31538402 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 31538402 31538402 T C SNP CLDN17 ENST00000286808 human ensembl 69_37n -1 known silent c.534 p.G178 0.939 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8 - no_errors CLDN17 HGNC ENSG00000156282 166 0 0.00 117 15 11.36 - - - CLDND1 0 genome.wustl.edu 37 3 98235929 98235929 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 98235929 98235929 T G SNP CLDND1 ENST00000437922 human ensembl 69_37n -1 known missense c.577 p.T193P 0.996 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors CLDND1 HGNC ENSG00000080822 222 0 0.00 196 26 11.66 - - - CLEC4F 0 genome.wustl.edu 37 2 71039687 71039687 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 71039687 71039687 A C SNP CLEC4F ENST00000272367 human ensembl 69_37n -1 known silent c.1431 p.G477 0.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 174 1 0.57 170 24 12.37 - - - CLK2 0 genome.wustl.edu 37 1 155237914 155237914 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 155237914 155237914 A C SNP CLK2 ENST00000368361 human ensembl 69_37n -1 known silent c.558 p.G186 0.849 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 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 CLK2 HGNC ENSG00000176444 130 0 0.00 200 25 11.06 - - - CLU 0 genome.wustl.edu 37 8 27456103 27456103 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 27456103 27456103 A C SNP CLU ENST00000560366 human ensembl 69_37n -1 known missense c.1370 p.V457G 1.000 pfam_Clusterin-like,smart_Clusterin_C pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLU HGNC ENSG00000120885 104 1 0.95 106 26 19.55 - - - CLUL1 0 genome.wustl.edu 37 18 619225 619225 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 619225 619225 T G SNP CLUL1 ENST00000338387 human ensembl 69_37n +1 known missense c.119 p.V40G 0.014 pfam_Clusterin-like,smart_Clusterin_N pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLUL1 HGNC ENSG00000079101 181 0 0.00 162 21 11.35 - - - CMYA5 0 genome.wustl.edu 37 5 79026763 79026763 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 79026763 79026763 T G SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known silent c.2175 p.G725 0.011 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 342 1 0.29 284 32 10.09 - - - CMYA5 0 genome.wustl.edu 37 5 79027198 79027198 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 79027198 79027198 A C SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known silent c.2610 p.P870 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 265 1 0.37 199 37 15.68 - - - CMYA5 0 genome.wustl.edu 37 5 79027211 79027211 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 79027211 79027211 A C SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.2623 p.T875P 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 252 1 0.40 208 28 11.86 - - - CMYA5 0 genome.wustl.edu 37 5 79030767 79030767 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 79030767 79030767 T G SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.6179 p.V2060G 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 308 1 0.32 186 32 14.68 - - - CMYA5 0 genome.wustl.edu 37 5 79031053 79031053 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 79031053 79031053 A C SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known silent c.6465 p.P2155 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 391 0 0.00 259 29 10.07 - - - CNGB1 0 genome.wustl.edu 37 16 57921861 57921861 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 57921861 57921861 A C SNP CNGB1 ENST00000251102 human ensembl 69_37n -1 known silent c.3360 p.G1120 0.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 80 0 0.00 57 25 30.12 - - - CNOT1 0 genome.wustl.edu 37 16 58583780 58583780 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 58583780 58583780 A C SNP CNOT1 ENST00000317147 human ensembl 69_37n -1 known missense c.3365 p.V1122G 1.000 superfamily_ARM-type_fold pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 199 2 1.00 134 26 16.05 - - - CNOT1 0 genome.wustl.edu 37 16 58583801 58583801 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 58583801 58583801 A C SNP CNOT1 ENST00000317147 human ensembl 69_37n -1 known missense c.3344 p.V1115G 1.000 superfamily_ARM-type_fold pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 185 0 0.00 120 29 19.46 - - - CNOT6 0 genome.wustl.edu 37 5 180001097 180001097 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 180001097 180001097 A C SNP CNOT6 ENST00000261951 human ensembl 69_37n +1 known missense c.1571 p.H524P 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6 HGNC ENSG00000113300 144 0 0.00 154 26 14.36 - - - CNPY3 0 genome.wustl.edu 37 6 42905510 42905510 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 42905510 42905510 T G SNP CNPY3 ENST00000372836 human ensembl 69_37n +1 known missense c.428 p.V143G 1.000 pfam_DUF3456 pfam_DUF3456 - no_errors CNPY3 HGNC ENSG00000137161 210 0 0.00 266 36 11.88 - - - CNTN3 0 genome.wustl.edu 37 3 74334641 74334641 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 74334641 74334641 A C SNP CNTN3 ENST00000263665 human ensembl 69_37n -1 known missense c.2519 p.V840G 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN3 HGNC ENSG00000113805 316 2 0.62 220 39 14.89 - - - CNTN3 0 genome.wustl.edu 37 3 74350638 74350638 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 74350638 74350638 A C SNP CNTN3 ENST00000263665 human ensembl 69_37n -1 known missense c.2006 p.V669G 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN3 HGNC ENSG00000113805 172 1 0.58 137 33 19.30 - - - CNTN3 0 genome.wustl.edu 37 3 74535764 74535764 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 74535764 74535764 A C SNP CNTN3 ENST00000263665 human ensembl 69_37n -1 known missense c.201 p.S67R 0.007 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN3 HGNC ENSG00000113805 345 0 0.00 224 26 10.40 - - - CNTNAP1 0 genome.wustl.edu 37 17 40838091 40838091 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 40838091 40838091 A C SNP CNTNAP1 ENST00000264638 human ensembl 69_37n +1 known missense c.832 p.T278P 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 95 0 0.00 62 20 24.10 - - - CNTNAP1 0 genome.wustl.edu 37 17 40840972 40840972 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 40840972 40840972 T G SNP CNTNAP1 ENST00000264638 human ensembl 69_37n +1 known missense c.1535 p.V512G 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 68 0 0.00 70 11 13.41 - - - CNTNAP2 0 genome.wustl.edu 37 7 147926766 147926766 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 147926766 147926766 T G SNP CNTNAP2 ENST00000361727 human ensembl 69_37n +1 known silent c.3276 p.G1092 0.392 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 243 0 0.00 235 34 12.55 - - - CNTRL 0 genome.wustl.edu 37 9 123888037 123888037 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 123888037 123888037 T G SNP CNTRL ENST00000238341 human ensembl 69_37n +1 known silent c.1848 p.G616 0.983 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 328 0 0.00 252 47 15.67 - - - COG8 0 genome.wustl.edu 37 16 69368585 69368585 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 69368585 69368585 T G SNP COG8 ENST00000306875 human ensembl 69_37n -1 known missense c.1252 p.T418P 0.010 pirsf_COG_su8 pfam_Dor1,superfamily_Cullin_repeat-like_dom,pirsf_COG_su8 - no_errors COG8 HGNC ENSG00000213380 40 0 0.00 28 9 24.32 - - - COL12A1 0 genome.wustl.edu 37 6 75811748 75811748 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 75811748 75811748 A C SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known silent c.8436 p.G2812 0.294 pfam_Collagen 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 276 1 0.36 210 32 13.01 - - - COL12A1 0 genome.wustl.edu 37 6 75887508 75887508 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 75887508 75887508 T G SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known missense c.2308 p.T770P 0.055 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 513 0 0.00 459 60 11.52 - - - COL12A1 0 genome.wustl.edu 37 6 75890804 75890804 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 75890804 75890804 T C SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known missense c.2015 p.D672G 0.241 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 257 1 0.38 167 46 21.50 - - - COL14A1 0 genome.wustl.edu 37 8 121237450 121237450 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 121237450 121237450 A C SNP COL14A1 ENST00000297848 human ensembl 69_37n +1 known missense c.1861 p.T621P 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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 134 0 0.00 78 19 19.59 - - - COL16A1 0 genome.wustl.edu 37 1 32145098 32145098 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 32145098 32145098 T G SNP COL16A1 ENST00000373668 human ensembl 69_37n -1 putative missense c.2859 p.L953F 0.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 34 0 0.00 10 9 47.37 - - - COL22A1 0 genome.wustl.edu 37 8 139749809 139749809 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 139749809 139749809 A C SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known silent c.2097 p.G699 0.833 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 101 0 0.00 125 26 17.22 - - - COL22A1 0 genome.wustl.edu 37 8 139767753 139767753 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 139767753 139767753 A C SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known missense c.1949 p.V650G 1.000 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 277 0 0.00 241 28 10.37 - - - COL23A1 0 genome.wustl.edu 37 5 177686746 177686746 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 177686746 177686746 A C SNP COL23A1 ENST00000390654 human ensembl 69_37n -1 known silent c.705 p.G235 1.000 pfam_Collagen pfam_Collagen - no_errors COL23A1 HGNC ENSG00000050767 57 0 0.00 65 19 22.35 - - - COL25A1 0 genome.wustl.edu 37 4 109784541 109784541 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 109784541 109784541 A C SNP COL25A1 ENST00000399132 human ensembl 69_37n -1 known silent c.1086 p.G362 1.000 pfam_Collagen pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 63 0 0.00 74 19 20.43 - - - COL28A1 0 genome.wustl.edu 37 7 7472284 7472284 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 7472284 7472284 A C SNP COL28A1 ENST00000399429 human ensembl 69_37n -1 known silent c.1908 p.G636 0.488 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 229 2 0.85 132 34 20.24 - - - COL4A4 0 genome.wustl.edu 37 2 227946856 227946856 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 227946856 227946856 A C SNP COL4A4 ENST00000396625 human ensembl 69_37n -1 known silent c.1671 p.G557 0.688 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 369 2 0.54 274 48 14.91 - - - COL4A5 0 genome.wustl.edu 37 X 107829955 107829955 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 107829955 107829955 A C SNP COL4A5 ENST00000328300 human ensembl 69_37n +1 known silent c.1143 p.P381 0.999 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 383 0 0.00 312 52 14.29 - - - COL4A6 0 genome.wustl.edu 37 X 107414092 107414092 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 107414092 107414092 A C SNP COL4A6 ENST00000372216 human ensembl 69_37n -1 known silent c.3336 p.G1112 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 147 1 0.68 95 27 22.13 - - - COL4A6 0 genome.wustl.edu 37 X 107457345 107457345 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 107457345 107457345 T G SNP COL4A6 ENST00000372216 human ensembl 69_37n -1 known silent c.441 p.P147 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 155 0 0.00 94 19 16.67 - - - COL5A2 0 genome.wustl.edu 37 2 189927994 189927994 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 189927994 189927994 A C SNP COL5A2 ENST00000374866 human ensembl 69_37n -1 known silent c.1773 p.G591 0.873 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 105 0 0.00 105 16 13.01 - - - COL5A3 0 genome.wustl.edu 37 19 10096558 10096558 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 10096558 10096558 A C SNP COL5A3 ENST00000264828 human ensembl 69_37n -1 known missense c.2366 p.V789G 0.690 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 142 0 0.00 182 26 12.50 - - - COL5A3 0 genome.wustl.edu 37 19 10108823 10108823 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 10108823 10108823 A C SNP COL5A3 ENST00000264828 human ensembl 69_37n -1 known silent c.1113 p.G371 0.334 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 569 5 0.87 829 126 13.06 - - - COL6A3 0 genome.wustl.edu 37 2 238268800 238268800 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 238268800 238268800 A C SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known silent c.6213 p.G2071 0.911 pfam_Collagen pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 40 0 0.00 31 8 20.51 - - - COL6A3 0 genome.wustl.edu 37 2 238275363 238275363 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 238275363 238275363 T G SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known missense c.5467 p.T1823P 0.467 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 137 0 0.00 158 27 14.44 - - - COL6A6 0 genome.wustl.edu 37 3 130287142 130287142 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 130287142 130287142 A C SNP COL6A6 ENST00000358511 human ensembl 69_37n +1 known missense c.2095 p.T699P 0.955 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 229 2 0.87 143 36 20.00 - - - COL7A1 0 genome.wustl.edu 37 3 48631839 48631839 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 48631839 48631839 A C SNP COL7A1 ENST00000328333 human ensembl 69_37n -1 known silent c.228 p.G76 0.294 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 50 0 0.00 30 10 25.00 - - - COLEC12 0 genome.wustl.edu 37 18 335127 335127 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 335127 335127 T G SNP COLEC12 ENST00000400256 human ensembl 69_37n -1 known silent c.1431 p.P477 0.000 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 41 0 0.00 42 18 29.03 - - - CORO1C 0 genome.wustl.edu 37 12 109048134 109048134 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 109048134 109048134 A C SNP CORO1C ENST00000420959 human ensembl 69_37n -1 known missense c.962 p.V321G 1.000 pfam_DUF1900,superfamily_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1C HGNC ENSG00000110880 164 0 0.00 113 23 16.91 - - - COX7A2 0 genome.wustl.edu 37 6 75953491 75953491 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 75953491 75953491 A C SNP COX7A2 ENST00000370081 human ensembl 69_37n -1 known missense c.56 p.V19G 0.000 NULL pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a - no_errors COX7A2 HGNC ENSG00000112695 185 0 0.00 289 37 11.31 - - - CP 0 genome.wustl.edu 37 3 148895649 148895649 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 148895649 148895649 T G SNP CP ENST00000264613 human ensembl 69_37n -1 known missense c.2996 p.H999P 0.998 pfam_Cu-oxidase_2,pfam_Cu-oxidase,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 286 2 0.69 262 31 10.58 - - - CPA1 0 genome.wustl.edu 37 7 130027832 130027832 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 130027832 130027832 A C SNP CPA1 ENST00000011292 human ensembl 69_37n +1 known missense c.1240 p.T414P 0.975 NULL pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 235 0 0.00 230 40 14.81 - - - CPA6 0 genome.wustl.edu 37 8 68430281 68430281 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 68430281 68430281 A C SNP CPA6 ENST00000297770 human ensembl 69_37n -1 known missense c.194 p.V65G 1.000 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA6 HGNC ENSG00000165078 107 0 0.00 98 19 16.24 - - - CPAMD8 0 genome.wustl.edu 37 19 17036038 17036038 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 17036038 17036038 A C SNP CPAMD8 ENST00000291440 human ensembl 69_37n -1 known missense c.3656 p.V1219G 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC ENSG00000160111 114 0 0.00 145 31 17.51 - - - CPB2 0 genome.wustl.edu 37 13 46627811 46627811 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 46627811 46627811 T G SNP CPB2 ENST00000181383 human ensembl 69_37n -1 known missense c.1210 p.T404P 0.997 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 177 0 0.00 122 25 17.01 - - - CPB2 0 genome.wustl.edu 37 13 46627815 46627815 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 46627815 46627815 T G SNP CPB2 ENST00000181383 human ensembl 69_37n -1 known missense c.1206 p.K402N 0.206 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 171 1 0.58 112 25 18.25 - - - CPEB3 0 genome.wustl.edu 37 10 93841170 93841170 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 93841170 93841170 A C SNP CPEB3 ENST00000265997 human ensembl 69_37n -1 known silent c.1776 p.G592 0.999 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB3 HGNC ENSG00000107864 113 1 0.87 88 16 15.24 - - - CPQ 0 genome.wustl.edu 37 8 97892091 97892091 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 97892091 97892091 T G SNP CPQ ENST00000220763 human ensembl 69_37n +1 known missense c.707 p.V236G 1.000 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 248 1 0.40 222 26 10.40 - - - CPSF2 0 genome.wustl.edu 37 14 92625617 92625617 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 92625617 92625617 A C SNP CPSF2 ENST00000555244 human ensembl 69_37n +1 novel missense c.662 p.H221P 0.004 NULL pfam_RMMBL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CPSF2 HGNC ENSG00000165934 160 0 0.00 113 16 12.31 - - - CREB5 0 genome.wustl.edu 37 7 28610009 28610009 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 28610009 28610009 T G SNP CREB5 ENST00000357727 human ensembl 69_37n +1 known silent c.318 p.G106 0.998 pirsf_TF_cAMP-dep pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 164 1 0.61 220 32 12.65 - - - CRIM1 0 genome.wustl.edu 37 2 36691721 36691721 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 36691721 36691721 T G SNP CRIM1 ENST00000280527 human ensembl 69_37n +1 known missense c.914 p.V305G 1.000 NULL pfam_VWF_C,pfam_Prot_inh_I15_antistasin-like,superfamily_Prot_inh_I14/15_hirudin/antisn,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 271 1 0.37 223 34 13.23 - - - CRISPLD1 0 genome.wustl.edu 37 8 75929616 75929616 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 75929616 75929616 T G SNP CRISPLD1 ENST00000262207 human ensembl 69_37n +1 known missense c.1058 p.V353G 1.000 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 125 0 0.00 73 16 17.98 - - - CROT 0 genome.wustl.edu 37 7 87005251 87005251 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 87005251 87005251 A C SNP CROT ENST00000331536 human ensembl 69_37n +1 known silent c.858 p.T286 0.979 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 239 0 0.00 184 22 10.68 - - - CRYBB2 0 genome.wustl.edu 37 22 25627726 25627726 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 25627726 25627726 A C SNP CRYBB2 ENST00000398215 human ensembl 69_37n +1 known missense c.605 p.H202P 1.000 NULL pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB2 HGNC ENSG00000244752 105 1 0.93 68 24 25.53 - - - CRYBG3 0 genome.wustl.edu 37 3 97596270 97596270 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 97596270 97596270 T G SNP CRYBG3 ENST00000182096 human ensembl 69_37n +1 known missense c.388 p.Y130D 1.000 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 209 0 0.00 199 31 13.48 - - - CRYBG3 0 genome.wustl.edu 37 3 97660030 97660030 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 97660030 97660030 T G SNP CRYBG3 ENST00000182096 human ensembl 69_37n +1 known silent c.2700 p.G900 0.107 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 171 0 0.00 119 17 12.50 - - - CSE1L 0 genome.wustl.edu 37 20 47712943 47712943 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 47712943 47712943 T G SNP CSE1L ENST00000262982 human ensembl 69_37n +1 known missense c.2884 p.Y962D 0.998 pfam_CAS_CSE1_C,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 106 0 0.00 93 16 14.68 - - - CSF1R 0 genome.wustl.edu 37 5 149452912 149452912 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 149452912 149452912 T G SNP CSF1R ENST00000286301 human ensembl 69_37n -1 known missense c.1034 p.H345P 0.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors CSF1R HGNC ENSG00000182578 340 0 0.00 343 49 12.47 - - - CSF2RA 0 genome.wustl.edu 37 X 1407919 1407919 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 1407919 1407919 A C SNP CSF2RA ENST00000478256 human ensembl 69_37n +1 putative rna NULL NULL 0.002 - - - no_errors CSF2RA HGNC ENSG00000198223 24 0 0.00 53 17 24.29 - - - CSGALNACT1 0 genome.wustl.edu 37 8 19263579 19263579 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 19263579 19263579 A C SNP CSGALNACT1 ENST00000311540 human ensembl 69_37n -1 known silent c.1311 p.G437 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 118 0 0.00 125 20 13.79 - - - CSGALNACT2 0 genome.wustl.edu 37 10 43678729 43678729 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 43678729 43678729 T G SNP CSGALNACT2 ENST00000374466 human ensembl 69_37n +1 known silent c.1368 p.G456 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 205 0 0.00 185 34 15.45 - - - CSMD1 0 genome.wustl.edu 37 8 3165333 3165333 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 3165333 3165333 A C SNP CSMD1 ENST00000335551 human ensembl 69_37n -1 novel missense c.2275 p.W759G 0.450 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSMD1 HGNC ENSG00000183117 225 0 0.00 193 35 15.28 - - - CSMD3 0 genome.wustl.edu 37 8 114186099 114186099 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 114186099 114186099 A C SNP CSMD3 ENST00000297405 human ensembl 69_37n -1 known silent c.561 p.G187 0.998 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 118 0 0.00 91 25 21.37 - - - CSTL1 0 genome.wustl.edu 37 20 23420986 23420986 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 23420986 23420986 T G SNP CSTL1 ENST00000246020 human ensembl 69_37n +1 known missense c.82 p.W28G 0.775 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CSTL1 HGNC ENSG00000125823 140 1 0.70 94 27 21.77 - - - CTAGE5 0 genome.wustl.edu 37 14 39818102 39818102 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 39818102 39818102 T C SNP CTAGE5 ENST00000396158 human ensembl 69_37n +1 known silent c.2184 p.P728 1.000 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 646 6 0.91 353 79 18.20 - - - CTAGE5 0 genome.wustl.edu 37 14 39818141 39818141 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 39818141 39818141 A C SNP CTAGE5 ENST00000396158 human ensembl 69_37n +1 known silent c.2223 p.P741 1.000 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 645 3 0.46 418 69 14.14 - - - CTAGE5 0 genome.wustl.edu 37 14 39818165 39818165 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 39818165 39818165 A C SNP CTAGE5 ENST00000396158 human ensembl 69_37n +1 known silent c.2247 p.P749 0.872 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 604 3 0.49 363 69 15.97 - - - CTAGE5 0 genome.wustl.edu 37 14 39819417 39819417 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 39819417 39819417 A C SNP CTAGE5 ENST00000396158 human ensembl 69_37n +1 known silent c.2379 p.P793 0.000 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 507 2 0.39 275 53 16.16 - - - CTBS 0 genome.wustl.edu 37 1 85029438 85029438 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 85029438 85029438 T G SNP CTBS ENST00000370630 human ensembl 69_37n -1 known missense c.775 p.T259P 0.172 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CTBS HGNC ENSG00000117151 162 1 0.61 65 13 16.67 - - - CTC1 0 genome.wustl.edu 37 17 8132722 8132722 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 8132722 8132722 A C SNP CTC1 ENST00000581729 human ensembl 69_37n -1 novel missense c.2 p.V1G 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CTC1 HGNC ENSG00000178971 87 0 0.00 59 17 22.37 - - - CTIF 0 genome.wustl.edu 37 18 46190868 46190868 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 46190868 46190868 A C SNP CTIF ENST00000382998 human ensembl 69_37n +1 known missense c.377 p.H126P 1.000 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 145 1 0.68 152 35 18.72 - - - CTNNA1 0 genome.wustl.edu 37 5 138266214 138266214 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 138266214 138266214 T G SNP CTNNA1 ENST00000302763 human ensembl 69_37n +1 known missense c.2063 p.V688G 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 154 1 0.65 120 20 14.29 - - - CTNNA2 0 genome.wustl.edu 37 2 80816481 80816481 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 80816481 80816481 T G SNP CTNNA2 ENST00000361291 human ensembl 69_37n +1 known missense c.2162 p.V721G 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 126 0 0.00 79 24 23.30 - - - CTNNA3 0 genome.wustl.edu 37 10 69407208 69407208 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 69407208 69407208 T G SNP CTNNA3 ENST00000373744 human ensembl 69_37n -1 known missense c.64 p.T22P 0.994 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 163 1 0.61 90 29 24.17 - - - CTNNBL1 0 genome.wustl.edu 37 20 36374947 36374947 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 36374947 36374947 A C SNP CTNNBL1 ENST00000405275 human ensembl 69_37n +1 known missense c.323 p.H108P 1.000 pfam_DUF1716_euk,superfamily_ARM-type_fold pfam_DUF1716_euk,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 166 0 0.00 162 27 14.29 - - - CTNND1 0 genome.wustl.edu 37 11 57569489 57569489 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 57569489 57569489 T G SNP CTNND1 ENST00000399050 human ensembl 69_37n +1 known missense c.1241 p.V414G 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 277 0 0.00 221 26 10.48 - - - CTSC 0 genome.wustl.edu 37 11 88045668 88045668 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 88045668 88045668 A C SNP CTSC ENST00000227266 human ensembl 69_37n -1 known missense c.373 p.W125G 0.998 pfam_CathepsinC_exc pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSC HGNC ENSG00000109861 339 1 0.29 243 41 14.44 - - - CUL7 0 genome.wustl.edu 37 6 43013138 43013138 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 43013138 43013138 A C SNP CUL7 ENST00000535468 human ensembl 69_37n -1 known silent c.3117 p.G1039 0.762 pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 211 1 0.47 152 30 16.39 - - - CUL9 0 genome.wustl.edu 37 6 43163849 43163849 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 43163849 43163849 A C SNP CUL9 ENST00000252050 human ensembl 69_37n +1 known missense c.2431 p.T811P 0.193 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 172 0 0.00 195 35 15.15 - - - CUX2 0 genome.wustl.edu 37 12 111785437 111785437 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 111785437 111785437 A C SNP CUX2 ENST00000261726 human ensembl 69_37n +1 known missense c.3769 p.T1257P 0.086 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 31 0 0.00 28 10 26.32 - - - CUX2 0 genome.wustl.edu 37 12 111785940 111785940 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 111785940 111785940 A C SNP CUX2 ENST00000261726 human ensembl 69_37n +1 known silent c.4272 p.P1424 0.964 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 64 0 0.00 59 14 19.18 - - - CWC15 0 genome.wustl.edu 37 11 94705287 94705287 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 94705287 94705287 A C SNP CWC15 ENST00000279839 human ensembl 69_37n -1 known rna NULL NULL 0.841 - - - no_errors CWC15 HGNC ENSG00000150316 136 0 0.00 107 36 25.17 - - - CWC15 0 genome.wustl.edu 37 11 94705308 94705308 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 94705308 94705308 A C SNP CWC15 ENST00000279839 human ensembl 69_37n -1 known rna NULL NULL 0.992 - - - no_errors CWC15 HGNC ENSG00000150316 128 0 0.00 96 34 25.95 - - - CWH43 0 genome.wustl.edu 37 4 49032933 49032933 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 49032933 49032933 T G SNP CWH43 ENST00000226432 human ensembl 69_37n +1 known silent c.1464 p.G488 0.975 superfamily_Endo/exonuclease/phosphatase superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 244 1 0.41 189 31 14.09 - - - CXCL6 0 genome.wustl.edu 37 4 74702804 74702804 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 74702804 74702804 T G SNP CXCL6 ENST00000226317 human ensembl 69_37n +1 known missense c.233 p.V78G 0.815 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC - no_errors CXCL6 HGNC ENSG00000124875 119 1 0.83 83 16 16.00 - - - CXCR5 0 genome.wustl.edu 37 11 118765361 118765361 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 118765361 118765361 A C SNP CXCR5 ENST00000292174 human ensembl 69_37n +1 known missense c.1108 p.T370P 0.996 prints_Chemokine_CXCR5 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR5,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt - no_errors CXCR5 HGNC ENSG00000160683 32 0 0.00 18 10 35.71 - - - CXCR7 0 genome.wustl.edu 37 2 237489964 237489964 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 237489964 237489964 A C SNP CXCR7 ENST00000272928 human ensembl 69_37n +1 known missense c.856 p.T286P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_RDC1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Frt_met_rcpt - no_errors CXCR7 HGNC ENSG00000144476 117 1 0.84 77 21 21.21 - - - CXorf21 0 genome.wustl.edu 37 X 30578393 30578393 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 30578393 30578393 A C SNP CXorf21 ENST00000378962 human ensembl 69_37n -1 known missense c.80 p.V27G 0.065 NULL NULL - no_errors CXorf21 HGNC ENSG00000120280 148 0 0.00 130 23 14.94 - - - CYFIP2 0 genome.wustl.edu 37 5 156723682 156723682 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 156723682 156723682 T G SNP CYFIP2 ENST00000318218 human ensembl 69_37n +1 known missense c.287 p.V96G 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 255 1 0.39 247 32 11.39 - - - CYFIP2 0 genome.wustl.edu 37 5 156741353 156741353 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 156741353 156741353 T G SNP CYFIP2 ENST00000318218 human ensembl 69_37n +1 known missense c.1112 p.V371G 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 102 1 0.97 103 19 15.45 - - - CYLC2 0 genome.wustl.edu 37 9 105767465 105767465 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 105767465 105767465 T G SNP CYLC2 ENST00000374798 human ensembl 69_37n +1 putative silent c.552 p.G184 0.000 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 411 0 0.00 287 57 16.52 - - - CYLC2 0 genome.wustl.edu 37 9 105767537 105767537 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 105767537 105767537 T G SNP CYLC2 ENST00000374798 human ensembl 69_37n +1 putative silent c.624 p.G208 0.005 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 503 3 0.59 389 81 17.20 - - - CYP1A2 0 genome.wustl.edu 37 15 75042205 75042205 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 75042205 75042205 A C SNP CYP1A2 ENST00000343932 human ensembl 69_37n +1 known silent c.126 p.P42 0.010 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A2 HGNC ENSG00000140505 198 0 0.00 112 20 15.04 - - - CYP1A2 0 genome.wustl.edu 37 15 75042264 75042264 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 75042264 75042264 A C SNP CYP1A2 ENST00000343932 human ensembl 69_37n +1 known missense c.185 p.H62P 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A2 HGNC ENSG00000140505 149 0 0.00 84 25 22.94 - - - CYP2A13 0 genome.wustl.edu 37 19 41594488 41594488 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 41594488 41594488 A C SNP CYP2A13 ENST00000330436 human ensembl 69_37n +1 known missense c.112 p.T38P 0.721 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 174 0 0.00 137 24 14.91 - - - CYP2B6 0 genome.wustl.edu 37 19 41515277 41515277 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 41515277 41515277 A C SNP CYP2B6 ENST00000324071 human ensembl 69_37n +1 known missense c.799 p.T267P 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 413 3 0.72 460 67 12.67 - - - CYP2C18 0 genome.wustl.edu 37 10 96495237 96495237 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 96495237 96495237 A C SNP CYP2C18 ENST00000476630 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CYP2C18 HGNC ENSG00000108242 209 1 0.47 199 52 20.72 - - - CYP2C19 0 genome.wustl.edu 37 10 96540402 96540402 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 96540402 96540402 A C SNP CYP2C19 ENST00000371321 human ensembl 69_37n +1 known missense c.628 p.T210P 0.001 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 349 3 0.85 260 31 10.65 - - - CYP2F1 0 genome.wustl.edu 37 19 41622394 41622394 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 41622394 41622394 A C SNP CYP2F1 ENST00000331105 human ensembl 69_37n +1 known missense c.206 p.H69P 0.052 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 204 1 0.48 299 47 13.39 - - - CYP3A4 0 genome.wustl.edu 37 7 99359742 99359742 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 99359742 99359742 A C SNP CYP3A4 ENST00000336411 human ensembl 69_37n -1 known missense c.1175 p.V392G 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A4 HGNC ENSG00000160868 169 1 0.58 113 29 20.28 - - - CYP3A43 0 genome.wustl.edu 37 7 99457558 99457558 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 99457558 99457558 A C SNP CYP3A43 ENST00000222382 human ensembl 69_37n +1 known missense c.971 p.H324P 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP3A43 HGNC ENSG00000021461 203 0 0.00 162 24 12.90 - - - CYP3A7 0 genome.wustl.edu 37 7 99308410 99308410 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 99308410 99308410 T G SNP CYP3A7 ENST00000336374 human ensembl 69_37n -1 known missense c.971 p.H324P 0.993 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC ENSG00000160870 123 0 0.00 89 23 20.35 - - - CYP4A11 0 genome.wustl.edu 37 1 47398486 47398486 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 47398486 47398486 T G SNP CYP4A11 ENST00000371904 human ensembl 69_37n -1 known silent c.1314 p.A438 0.997 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A11 HGNC ENSG00000187048 401 4 0.99 317 53 14.29 - - - CYP4A11 0 genome.wustl.edu 37 1 47398508 47398508 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 47398508 47398508 A C SNP CYP4A11 ENST00000371904 human ensembl 69_37n -1 known missense c.1292 p.V431G 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A11 HGNC ENSG00000187048 380 0 0.00 309 41 11.65 - - - CYP4F11 0 genome.wustl.edu 37 19 16040302 16040302 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 16040302 16040302 T G SNP CYP4F11 ENST00000248041 human ensembl 69_37n -1 known missense c.308 p.H103P 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 54 0 0.00 81 18 18.18 - - - CYP4F3 0 genome.wustl.edu 37 19 15769165 15769165 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 15769165 15769165 A C SNP CYP4F3 ENST00000221307 human ensembl 69_37n +1 known missense c.1207 p.T403P 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F3 HGNC ENSG00000186529 137 1 0.72 130 30 18.75 - - - CYSTM1 0 genome.wustl.edu 37 5 139574107 139574107 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 139574107 139574107 A C SNP CYSTM1 ENST00000261811 human ensembl 69_37n +1 known silent c.57 p.P19 0.999 NULL NULL - no_errors CYSTM1 HGNC ENSG00000120306 202 1 0.49 177 44 19.91 - - - DAB2IP 0 genome.wustl.edu 37 9 124544715 124544715 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 124544715 124544715 A C SNP DAB2IP ENST00000408936 human ensembl 69_37n +1 known missense c.3508 p.T1170P 1.000 NULL pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 199 2 0.99 125 19 13.19 - - - DACH1 0 genome.wustl.edu 37 13 72440234 72440234 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 72440234 72440234 A C SNP DACH1 ENST00000359684 human ensembl 69_37n -1 known missense c.674 p.V225G 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 49 0 0.00 34 9 20.93 - - - DACH2 0 genome.wustl.edu 37 X 85404052 85404052 + Missense_Mutation SNP G G A TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 85404052 85404052 G A SNP DACH2 ENST00000373125 human ensembl 69_37n +1 known missense c.428 p.R143H 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 89 0 0.00 64 26 27.96 - - - DAG1 0 genome.wustl.edu 37 3 49548056 49548056 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 49548056 49548056 A C SNP DAG1 ENST00000308775 human ensembl 69_37n +1 known missense c.89 p.H30P 0.710 NULL pfam_DAG1,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 68 0 0.00 64 15 18.99 - - - DAZAP2 0 genome.wustl.edu 37 12 51634212 51634212 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 51634212 51634212 A C SNP DAZAP2 ENST00000549555 human ensembl 69_37n +1 known silent c.99 p.P33 1.000 NULL pfam_DAZ_assoc-2 - no_errors DAZAP2 HGNC ENSG00000183283 121 1 0.82 92 28 23.33 - - - DAZAP2 0 genome.wustl.edu 37 12 51634819 51634819 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 51634819 51634819 A C SNP DAZAP2 ENST00000549555 human ensembl 69_37n +1 known silent c.297 p.P99 0.993 pfam_DAZ_assoc-2 pfam_DAZ_assoc-2 - no_errors DAZAP2 HGNC ENSG00000183283 130 1 0.76 117 21 15.22 - - - DCAF10 0 genome.wustl.edu 37 9 37854793 37854793 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 37854793 37854793 T G SNP DCAF10 ENST00000377724 human ensembl 69_37n +1 known missense c.868 p.C290G 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,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 152 1 0.65 114 25 17.99 - - - DCAF10 0 genome.wustl.edu 37 9 37860210 37860210 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 37860210 37860210 A C SNP DCAF10 ENST00000461549 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors DCAF10 HGNC ENSG00000122741 72 0 0.00 60 17 21.52 - - - DCAF4 0 genome.wustl.edu 37 14 73418546 73418546 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 73418546 73418546 A C SNP DCAF4 ENST00000358377 human ensembl 69_37n +1 known missense c.769 p.T257P 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4 HGNC ENSG00000119599 233 2 0.85 172 36 17.22 - - - DCAF5 0 genome.wustl.edu 37 14 69529213 69529213 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 69529213 69529213 A C SNP DCAF5 ENST00000341516 human ensembl 69_37n -1 known missense c.962 p.V321G 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 DCAF5 HGNC ENSG00000139990 113 0 0.00 79 26 24.76 - - - DCAKD 0 genome.wustl.edu 37 17 43111608 43111608 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 43111608 43111608 T G SNP DCAKD ENST00000342350 human ensembl 69_37n -1 known missense c.263 p.H88P 1.000 pfam_Depp_CoAkinase,tigrfam_Depp_CoAkinase pfam_Depp_CoAkinase,tigrfam_Depp_CoAkinase - no_errors DCAKD HGNC ENSG00000172992 25 0 0.00 27 9 25.00 - - - DCBLD2 0 genome.wustl.edu 37 3 98519555 98519555 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 98519555 98519555 A C SNP DCBLD2 ENST00000326857 human ensembl 69_37n -1 known missense c.1768 p.W590G 1.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_LCCL,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 299 0 0.00 225 32 12.36 - - - DCC 0 genome.wustl.edu 37 18 50592444 50592444 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 50592444 50592444 T G SNP DCC ENST00000442544 human ensembl 69_37n +1 known missense c.1169 p.V390G 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 204 2 0.97 127 40 23.81 - - - DCC 0 genome.wustl.edu 37 18 50683785 50683785 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 50683785 50683785 T C SNP DCC ENST00000442544 human ensembl 69_37n +1 known missense c.1321 p.S441P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 327 3 0.91 242 36 12.90 - - - DCLK3 0 genome.wustl.edu 37 3 36759653 36759653 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 36759653 36759653 A C SNP DCLK3 ENST00000416516 human ensembl 69_37n -1 known missense c.1601 p.V534G 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,pfscan_Prot_kinase_cat_dom 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 DCLK3 HGNC ENSG00000163673 324 3 0.91 257 43 14.33 - - - DCSTAMP 0 genome.wustl.edu 37 8 105367301 105367301 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 105367301 105367301 A C SNP DCSTAMP ENST00000297581 human ensembl 69_37n +1 known missense c.1226 p.Y409S 1.000 pfam_DC_STAMP-like,superfamily_ABC_transptrTM_dom_typ1 pfam_DC_STAMP-like,superfamily_ABC_transptrTM_dom_typ1 - no_errors DCSTAMP HGNC ENSG00000164935 237 1 0.42 179 34 15.96 - - - DCTN2 0 genome.wustl.edu 37 12 57926410 57926410 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 57926410 57926410 A C SNP DCTN2 ENST00000434715 human ensembl 69_37n -1 known missense c.884 p.V295G 1.000 pfam_Dynamitin_2su pfam_Dynamitin_2su - no_errors DCTN2 HGNC ENSG00000175203 101 0 0.00 132 21 13.64 - - - DCUN1D2 0 genome.wustl.edu 37 13 114112365 114112365 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 114112365 114112365 A C SNP DCUN1D2 ENST00000478244 human ensembl 69_37n -1 known silent c.759 p.G253 0.003 NULL pfam_PONY_dom,superfamily_UBA-like - no_errors DCUN1D2 HGNC ENSG00000150401 185 0 0.00 136 22 13.92 - - - DCUN1D3 0 genome.wustl.edu 37 16 20873717 20873717 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 20873717 20873717 A C SNP DCUN1D3 ENST00000324344 human ensembl 69_37n -1 known silent c.144 p.G48 1.000 NULL pfam_PONY_dom - no_errors DCUN1D3 HGNC ENSG00000188215 198 2 0.99 174 36 16.90 - - - DDHD2 0 genome.wustl.edu 37 8 38103351 38103351 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 38103351 38103351 A C SNP DDHD2 ENST00000397166 human ensembl 69_37n +1 known missense c.940 p.T314P 1.000 NULL pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom - no_errors DDHD2 HGNC ENSG00000085788 161 0 0.00 156 25 13.81 - - - DDR2 0 genome.wustl.edu 37 1 162735826 162735826 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 162735826 162735826 A C SNP DDR2 ENST00000367921 human ensembl 69_37n +1 known missense c.1135 p.T379P 0.466 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 121 0 0.00 155 32 17.02 - - - DDX17 0 genome.wustl.edu 37 22 38895454 38895454 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 38895454 38895454 T C SNP DDX17 ENST00000396821 human ensembl 69_37n -1 known silent c.489 p.G163 0.978 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 209 0 0.00 116 14 10.77 - - - DDX18 0 genome.wustl.edu 37 2 118579547 118579547 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 118579547 118579547 T G SNP DDX18 ENST00000263239 human ensembl 69_37n +1 known silent c.861 p.G287 0.012 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 207 1 0.48 192 35 15.35 - - - DDX42 0 genome.wustl.edu 37 17 61895210 61895210 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 61895210 61895210 A C SNP DDX42 ENST00000389924 human ensembl 69_37n +1 known missense c.2269 p.T757P 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC ENSG00000198231 128 1 0.78 79 22 21.78 - - - DDX5 0 genome.wustl.edu 37 17 62499649 62499649 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 62499649 62499649 A C SNP DDX5 ENST00000225792 human ensembl 69_37n -1 known missense c.548 p.V183G 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 120 0 0.00 125 24 16.00 - - - DDX58 0 genome.wustl.edu 37 9 32492507 32492507 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 32492507 32492507 A C SNP DDX58 ENST00000379883 human ensembl 69_37n -1 known silent c.453 p.G151 1.000 NULL pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_DEATH-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 149 1 0.66 112 37 24.83 - - - DEF6 0 genome.wustl.edu 37 6 35288978 35288978 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 35288978 35288978 A C SNP DEF6 ENST00000316637 human ensembl 69_37n +1 known missense c.1687 p.T563P 0.147 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DEF6 HGNC ENSG00000023892 226 1 0.44 275 32 10.42 - - - DEF6 0 genome.wustl.edu 37 6 35289021 35289021 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 35289021 35289021 A C SNP DEF6 ENST00000316637 human ensembl 69_37n +1 known missense c.1730 p.H577P 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DEF6 HGNC ENSG00000023892 201 1 0.50 235 31 11.61 - - - DEFB108B 0 genome.wustl.edu 37 11 71548593 71548593 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 71548593 71548593 A C SNP DEFB108B ENST00000328698 human ensembl 69_37n +1 known silent c.207 p.T69 0.001 NULL NULL - no_errors DEFB108B HGNC ENSG00000184276 215 1 0.46 137 29 17.47 - - - DENND2A 0 genome.wustl.edu 37 7 140287527 140287527 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 140287527 140287527 A C SNP DENND2A ENST00000275884 human ensembl 69_37n -1 known missense c.1049 p.V350G 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 89 0 0.00 67 23 25.27 - - - DENND2A 0 genome.wustl.edu 37 7 140301262 140301262 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 140301262 140301262 T G SNP DENND2A ENST00000275884 human ensembl 69_37n -1 known silent c.936 p.P312 0.007 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 94 0 0.00 152 28 15.56 - - - DENND4C 0 genome.wustl.edu 37 9 19299256 19299256 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 19299256 19299256 A C SNP DENND4C ENST00000380437 human ensembl 69_37n +1 known silent c.429 p.S143 0.999 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 61 0 0.00 50 20 28.57 - - - DENND5A 0 genome.wustl.edu 37 11 9182336 9182336 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 9182336 9182336 A C SNP DENND5A ENST00000328194 human ensembl 69_37n -1 known missense c.2360 p.V787G 1.000 pfscan_Run pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 170 1 0.58 179 33 15.49 - - - DENND5A 0 genome.wustl.edu 37 11 9182396 9182396 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 9182396 9182396 A C SNP DENND5A ENST00000328194 human ensembl 69_37n -1 known missense c.2300 p.V767G 1.000 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 195 1 0.51 222 41 15.59 - - - DFNA5 0 genome.wustl.edu 37 7 24789225 24789225 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 24789225 24789225 T G SNP DFNA5 ENST00000342947 human ensembl 69_37n -1 known missense c.169 p.T57P 1.000 pfam_Gasdermin pfam_Gasdermin - no_errors DFNA5 HGNC ENSG00000105928 185 1 0.54 162 29 15.18 - - - DGKH 0 genome.wustl.edu 37 13 42729872 42729872 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 42729872 42729872 A C SNP DGKH ENST00000337343 human ensembl 69_37n +1 known missense c.559 p.T187P 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 141 1 0.70 87 20 18.69 - - - DHCR7 0 genome.wustl.edu 37 11 71152322 71152322 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 71152322 71152322 T G SNP DHCR7 ENST00000355527 human ensembl 69_37n -1 known missense c.577 p.T193P 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 50 0 0.00 32 5 13.51 - - - DHRS11 0 genome.wustl.edu 37 17 34954593 34954593 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 34954593 34954593 T G SNP DHRS11 ENST00000251312 human ensembl 69_37n +1 known missense c.359 p.V120G 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors DHRS11 HGNC ENSG00000108272 75 0 0.00 69 13 15.66 - - - DHRS2 0 genome.wustl.edu 37 14 24108206 24108206 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 24108206 24108206 A C SNP DHRS2 ENST00000344777 human ensembl 69_37n +1 known missense c.133 p.T45P 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors DHRS2 HGNC ENSG00000100867 82 0 0.00 39 10 20.41 - - - DHTKD1 0 genome.wustl.edu 37 10 12142222 12142222 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 12142222 12142222 A C SNP DHTKD1 ENST00000263035 human ensembl 69_37n +1 known missense c.1717 p.T573P 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 144 0 0.00 127 17 11.72 - - - DHX30 0 genome.wustl.edu 37 3 47859583 47859583 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 47859583 47859583 A C SNP DHX30 ENST00000445061 human ensembl 69_37n +1 known missense c.100 p.T34P 1.000 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 73 0 0.00 87 16 15.53 - - - DHX34 0 genome.wustl.edu 37 19 47884194 47884194 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 47884194 47884194 A C SNP DHX34 ENST00000328771 human ensembl 69_37n +1 known missense c.3104 p.H1035P 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 37 0 0.00 28 17 37.78 - - - DHX8 0 genome.wustl.edu 37 17 41570820 41570820 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 41570820 41570820 T G SNP DHX8 ENST00000262415 human ensembl 69_37n +1 known missense c.871 p.W291G 1.000 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 108 1 0.92 114 40 25.81 - - - DIAPH1 0 genome.wustl.edu 37 5 140960328 140960328 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140960328 140960328 T G SNP DIAPH1 ENST00000253811 human ensembl 69_37n -1 known silent c.807 p.L269 0.989 superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH1 HGNC ENSG00000131504 230 0 0.00 180 27 12.98 - - - DLEC1 0 genome.wustl.edu 37 3 38158352 38158352 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 38158352 38158352 A C SNP DLEC1 ENST00000346219 human ensembl 69_37n +1 known missense c.4151 p.H1384P 0.005 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 93 0 0.00 75 13 14.77 - - - DLG1 0 genome.wustl.edu 37 3 196863524 196863524 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 196863524 196863524 A C SNP DLG1 ENST00000346964 human ensembl 69_37n -1 known silent c.1008 p.G336 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG1 HGNC ENSG00000075711 243 0 0.00 206 43 17.20 - - - DMBT1 0 genome.wustl.edu 37 10 124339124 124339124 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 124339124 124339124 T G SNP DMBT1 ENST00000368915 human ensembl 69_37n +1 known missense c.710 p.V237G 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 256 1 0.39 173 36 17.14 - - - DMBT1 0 genome.wustl.edu 37 10 124358320 124358320 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 124358320 124358320 T G SNP DMBT1 ENST00000368915 human ensembl 69_37n +1 known missense c.2987 p.V996G 0.880 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 321 1 0.31 243 60 19.74 - - - DMBT1 0 genome.wustl.edu 37 10 124380603 124380603 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 124380603 124380603 T G SNP DMBT1 ENST00000368915 human ensembl 69_37n +1 known missense c.5315 p.V1772G 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 249 2 0.79 175 43 19.72 - - - DMD 0 genome.wustl.edu 37 X 32305721 32305721 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 32305721 32305721 A C SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.6215 p.V2072G 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 125 0 0.00 94 15 13.64 - - - DMRT2 0 genome.wustl.edu 37 9 1056880 1056880 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 1056880 1056880 A C SNP DMRT2 ENST00000302441 human ensembl 69_37n +1 known silent c.1293 p.P431 0.890 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT2 HGNC ENSG00000173253 293 0 0.00 222 36 13.85 - - - DMRT2 0 genome.wustl.edu 37 9 1056972 1056972 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 1056972 1056972 A C SNP DMRT2 ENST00000302441 human ensembl 69_37n +1 known missense c.1385 p.H462P 1.000 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT2 HGNC ENSG00000173253 245 0 0.00 160 51 24.06 - - - DMRTC2 0 genome.wustl.edu 37 19 42354751 42354751 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 42354751 42354751 A C SNP DMRTC2 ENST00000269945 human ensembl 69_37n +1 known missense c.974 p.H325P 1.000 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTC2 HGNC ENSG00000142025 86 0 0.00 88 22 20.00 - - - DMXL1 0 genome.wustl.edu 37 5 118485161 118485161 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 118485161 118485161 A C SNP DMXL1 ENST00000539542 human ensembl 69_37n +1 known silent c.3639 p.P1213 0.968 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 284 0 0.00 142 26 15.38 - - - DMXL1 0 genome.wustl.edu 37 5 118487625 118487625 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 118487625 118487625 T G SNP DMXL1 ENST00000539542 human ensembl 69_37n +1 known silent c.4596 p.G1532 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 196 1 0.51 121 22 15.28 - - - DMXL2 0 genome.wustl.edu 37 15 51837848 51837848 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 51837848 51837848 T G SNP DMXL2 ENST00000543779 human ensembl 69_37n -1 known missense c.862 p.T288P 0.979 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 333 1 0.30 253 31 10.92 - - - DNAH1 0 genome.wustl.edu 37 3 52405972 52405972 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 52405972 52405972 T G SNP DNAH1 ENST00000420323 human ensembl 69_37n +1 known missense c.6536 p.V2179G 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 45 0 0.00 41 9 18.00 - - - DNAH10 0 genome.wustl.edu 37 12 124325927 124325927 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 124325927 124325927 T G SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.4841 p.V1614G 0.489 pfam_Dynein_heavy_dom-2 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 171 1 0.58 153 27 15.00 - - - DNAH10 0 genome.wustl.edu 37 12 124330672 124330672 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 124330672 124330672 A C SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.5431 p.T1811P 0.998 NULL 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 68 0 0.00 83 18 17.48 - - - DNAH10 0 genome.wustl.edu 37 12 124337866 124337866 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 124337866 124337866 T G SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known silent c.6051 p.G2017 0.010 NULL 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 15 0 0.00 18 6 25.00 - - - DNAH11 0 genome.wustl.edu 37 7 21631112 21631112 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 21631112 21631112 A C SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known missense c.2584 p.T862P 0.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 100 0 0.00 74 13 14.94 - - - DNAH11 0 genome.wustl.edu 37 7 21932164 21932164 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 21932164 21932164 A C SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known missense c.12650 p.H4217P 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 179 0 0.00 168 30 15.15 - - - DNAH17 0 genome.wustl.edu 37 17 76471472 76471472 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 76471472 76471472 A C SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known missense c.8357 p.V2786G 1.000 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 64 0 0.00 57 17 22.97 - - - DNAH2 0 genome.wustl.edu 37 17 7663178 7663178 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7663178 7663178 A C SNP DNAH2 ENST00000389173 human ensembl 69_37n +1 known missense c.2707 p.T903P 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 266 0 0.00 172 44 20.37 - - - DNAH2 0 genome.wustl.edu 37 17 7720735 7720735 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7720735 7720735 T G SNP DNAH2 ENST00000389173 human ensembl 69_37n +1 known splice_site c.10020+2 e64+2 1.000 - - - no_errors DNAH2 HGNC ENSG00000183914 245 0 0.00 154 28 15.30 - - - DNAH2 0 genome.wustl.edu 37 17 7727153 7727153 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7727153 7727153 T G SNP DNAH2 ENST00000389173 human ensembl 69_37n +1 known silent c.11331 p.G3777 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 107 0 0.00 129 21 13.91 - - - DNAH3 0 genome.wustl.edu 37 16 20975299 20975299 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 20975299 20975299 T G SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known missense c.9907 p.T3303P 0.997 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 265 2 0.75 263 33 11.07 - - - DNAH6 0 genome.wustl.edu 37 2 84777118 84777118 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 84777118 84777118 A C SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known silent c.1422 p.T474 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 113 0 0.00 97 17 14.78 - - - DNAH7 0 genome.wustl.edu 37 2 196720640 196720640 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 196720640 196720640 A C SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known silent c.8490 p.G2830 0.953 superfamily_Signal_recog_particle_SRP9/14 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 585 2 0.34 340 44 11.46 - - - DNAH7 0 genome.wustl.edu 37 2 196720662 196720662 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 196720662 196720662 T C SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known missense c.8468 p.E2823G 0.998 superfamily_Signal_recog_particle_SRP9/14 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 603 2 0.33 347 39 10.08 - - - DNAH7 0 genome.wustl.edu 37 2 196825287 196825287 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 196825287 196825287 T G SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known missense c.2588 p.Y863S 0.165 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 332 2 0.59 196 31 13.66 - - - DNAH7 0 genome.wustl.edu 37 2 196825383 196825383 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 196825383 196825383 A C SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known missense c.2492 p.V831G 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 300 2 0.66 182 30 14.08 - - - DNAH8 0 genome.wustl.edu 37 6 38813405 38813405 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 38813405 38813405 T G SNP DNAH8 ENST00000359357 human ensembl 69_37n +1 known missense c.4250 p.V1417G 0.997 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 183 0 0.00 90 30 24.79 - - - DNAH8 0 genome.wustl.edu 37 6 38840464 38840464 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 38840464 38840464 A C SNP DNAH8 ENST00000359357 human ensembl 69_37n +1 known silent c.6492 p.A2164 0.007 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 222 0 0.00 164 23 12.23 - - - DNAH8 0 genome.wustl.edu 37 6 38942251 38942251 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 38942251 38942251 A C SNP DNAH8 ENST00000359357 human ensembl 69_37n +1 known missense c.12129 p.L4043F 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 133 1 0.75 80 18 18.37 - - - DNAH9 0 genome.wustl.edu 37 17 11572997 11572997 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 11572997 11572997 T G SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known missense c.3239 p.V1080G 0.098 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 292 0 0.00 185 31 14.22 - - - DNAH9 0 genome.wustl.edu 37 17 11687788 11687788 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 11687788 11687788 A C SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known missense c.7993 p.T2665P 0.997 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 268 2 0.74 154 46 23.00 - - - DNAI1 0 genome.wustl.edu 37 9 34514628 34514628 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 34514628 34514628 A C SNP DNAI1 ENST00000485580 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors DNAI1 HGNC ENSG00000122735 97 0 0.00 68 13 15.48 - - - DNAJA3 0 genome.wustl.edu 37 16 4498775 4498775 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 4498775 4498775 T G SNP DNAJA3 ENST00000262375 human ensembl 69_37n +1 known silent c.1167 p.G389 0.997 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_N,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ - no_errors DNAJA3 HGNC ENSG00000103423 38 0 0.00 38 8 16.67 - - - DNAJB12 0 genome.wustl.edu 37 10 74104794 74104794 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 74104794 74104794 A C SNP DNAJB12 ENST00000338820 human ensembl 69_37n -1 known silent c.327 p.G109 0.000 NULL pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors DNAJB12 HGNC ENSG00000148719 107 0 0.00 81 23 21.10 - - - DNAJB4 0 genome.wustl.edu 37 1 78478874 78478874 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 78478874 78478874 T G SNP DNAJB4 ENST00000370763 human ensembl 69_37n +1 known silent c.351 p.G117 0.985 NULL pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB4 HGNC ENSG00000162616 269 1 0.37 180 37 16.89 - - - DNAJC5B 0 genome.wustl.edu 37 8 66989076 66989076 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 66989076 66989076 A C SNP DNAJC5B ENST00000276570 human ensembl 69_37n +1 known missense c.301 p.T101P 0.994 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC5B HGNC ENSG00000147570 216 0 0.00 169 35 16.99 - - - DNAJC5G 0 genome.wustl.edu 37 2 27499638 27499638 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 27499638 27499638 T G SNP DNAJC5G ENST00000296097 human ensembl 69_37n +1 known missense c.42 p.S14R 0.014 superfamily_DnaJ_N pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC5G HGNC ENSG00000163793 71 0 0.00 35 8 18.60 - - - DNAJC6 0 genome.wustl.edu 37 1 65858515 65858515 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 65858515 65858515 A C SNP DNAJC6 ENST00000371069 human ensembl 69_37n +1 known missense c.1870 p.T624P 0.624 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC ENSG00000116675 74 0 0.00 50 16 24.24 - - - DNM1P46 0 genome.wustl.edu 37 15 100331879 100331879 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 100331879 100331879 A C SNP DNM1P46 ENST00000341853 human ensembl 69_37n -1 known rna NULL NULL 0.948 - - - no_errors DNM1P46 HGNC ENSG00000182397 41 0 0.00 33 11 24.44 - - - DNMBP 0 genome.wustl.edu 37 10 101639792 101639792 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 101639792 101639792 A G SNP DNMBP ENST00000342239 human ensembl 69_37n -1 known missense c.4396 p.S1466P 0.258 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,prints_p67phox,prints_Spectrin_alpha_SH3,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors DNMBP HGNC ENSG00000107554 125 1 0.79 110 18 13.74 - - - DOCK7 0 genome.wustl.edu 37 1 63003604 63003604 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 63003604 63003604 T G SNP DOCK7 ENST00000454575 human ensembl 69_37n -1 known missense c.943 p.T315P 0.922 NULL pfam_DOCK,superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DOCK7 HGNC ENSG00000116641 100 1 0.99 79 21 20.79 - - - DOCK7 0 genome.wustl.edu 37 1 63018518 63018518 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 63018518 63018518 A C SNP DOCK7 ENST00000251157 human ensembl 69_37n -1 known missense c.2651 p.V884G 1.000 NULL pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 169 1 0.59 95 25 20.83 - - - DOCK7 0 genome.wustl.edu 37 1 63027333 63027333 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 63027333 63027333 A C SNP DOCK7 ENST00000251157 human ensembl 69_37n -1 known silent c.2154 p.G718 0.938 NULL pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 134 0 0.00 69 18 20.69 - - - DOCK9 0 genome.wustl.edu 37 13 99515727 99515727 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 99515727 99515727 A C SNP DOCK9 ENST00000339416 human ensembl 69_37n -1 known missense c.3365 p.V1122G 1.000 superfamily_ARM-type_fold pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 259 0 0.00 175 36 16.98 - - - DPCR1 0 genome.wustl.edu 37 6 30919933 30919933 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 30919933 30919933 A C SNP DPCR1 ENST00000304311 human ensembl 69_37n +1 known missense c.218 p.N73T 0.000 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 790 4 0.50 544 61 10.05 - - - DPY19L2 0 genome.wustl.edu 37 12 64062079 64062079 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 64062079 64062079 T C SNP DPY19L2 ENST00000324472 human ensembl 69_37n -1 known missense c.95 p.E32G 0.446 NULL pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 47 0 0.00 23 9 28.12 - - - DPYD 0 genome.wustl.edu 37 1 98015203 98015203 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 98015203 98015203 A C SNP DPYD ENST00000370192 human ensembl 69_37n -1 known silent c.1437 p.G479 0.675 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 186 1 0.53 115 22 15.94 - - - DPYS 0 genome.wustl.edu 37 8 105441826 105441826 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 105441826 105441826 T G SNP DPYS ENST00000351513 human ensembl 69_37n -1 known silent c.897 p.P299 0.790 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 109 1 0.91 121 20 14.18 - - - DPYSL5 0 genome.wustl.edu 37 2 27167641 27167641 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 27167641 27167641 A C SNP DPYSL5 ENST00000288699 human ensembl 69_37n +1 known missense c.1558 p.T520P 1.000 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 69 0 0.00 71 18 20.00 - - - DRP2 0 genome.wustl.edu 37 X 100486736 100486736 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 100486736 100486736 A C SNP DRP2 ENST00000395209 human ensembl 69_37n +1 known missense c.100 p.T34P 0.001 pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 166 0 0.00 129 29 18.35 - - - DSCAM 0 genome.wustl.edu 37 21 41561083 41561083 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 41561083 41561083 A C SNP DSCAM ENST00000400454 human ensembl 69_37n -1 known silent c.2439 p.G813 0.026 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 187 1 0.53 119 25 17.36 - - - DSCAML1 0 genome.wustl.edu 37 11 117301452 117301452 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 117301452 117301452 T G SNP DSCAML1 ENST00000321322 human ensembl 69_37n -1 known missense c.5852 p.H1951P 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 59 0 0.00 27 10 26.32 - - - DSCAML1 0 genome.wustl.edu 37 11 117335769 117335769 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 117335769 117335769 T G SNP DSCAML1 ENST00000321322 human ensembl 69_37n -1 known missense c.3334 p.T1112P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 109 0 0.00 81 17 17.35 - - - DSG1 0 genome.wustl.edu 37 18 28934978 28934978 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 28934978 28934978 A C SNP DSG1 ENST00000257192 human ensembl 69_37n +1 known missense c.2819 p.H940P 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin,pfscan_Cadherin - no_errors DSG1 HGNC ENSG00000134760 337 2 0.59 236 34 12.55 - - - DSG2 0 genome.wustl.edu 37 18 29122633 29122633 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 29122633 29122633 T G SNP DSG2 ENST00000261590 human ensembl 69_37n +1 known missense c.2152 p.W718G 0.995 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG2 HGNC ENSG00000046604 150 1 0.66 117 25 17.61 - - - DSG4 0 genome.wustl.edu 37 18 28991230 28991230 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 28991230 28991230 T G SNP DSG4 ENST00000359747 human ensembl 69_37n +1 known missense c.2231 p.V744G 0.043 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin,pfscan_Cadherin - no_errors DSG4 HGNC ENSG00000175065 64 0 0.00 82 18 18.00 - - - DSP 0 genome.wustl.edu 37 6 7571809 7571809 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 7571809 7571809 A C SNP DSP ENST00000379802 human ensembl 69_37n +1 known missense c.1895 p.H632P 0.996 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 169 1 0.59 203 29 12.50 - - - DST 0 genome.wustl.edu 37 6 56328483 56328483 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 56328483 56328483 T G SNP DST ENST00000523292 human ensembl 69_37n -1 novel missense c.272 p.D91A 0.903 NULL pfam_GAS2_dom,superfamily_GAS2_dom,smart_GAS2_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DST HGNC ENSG00000151914 129 0 0.00 94 27 22.13 - - - DST 0 genome.wustl.edu 37 6 56334742 56334742 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 56334742 56334742 A C SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.22397 p.V7466G 1.000 pfam_GAS2_dom,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_GAS2_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 130 0 0.00 102 23 18.25 - - - DST 0 genome.wustl.edu 37 6 56373496 56373496 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 56373496 56373496 A C SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.18977 p.V6326G 0.987 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 162 0 0.00 97 26 21.14 - - - DST 0 genome.wustl.edu 37 6 56458620 56458620 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 56458620 56458620 A C SNP DST ENST00000518398 human ensembl 69_37n -1 known missense c.677 p.V226G 0.036 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DST HGNC ENSG00000151914 473 0 0.00 336 52 13.33 - - - DSTYK 0 genome.wustl.edu 37 1 205156734 205156734 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 205156734 205156734 T G SNP DSTYK ENST00000367162 human ensembl 69_37n -1 known missense c.466 p.T156P 1.000 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 - no_errors DSTYK HGNC ENSG00000133059 103 1 0.96 182 23 11.22 - - - DUOX1 0 genome.wustl.edu 37 15 45448102 45448102 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 45448102 45448102 A C SNP DUOX1 ENST00000321429 human ensembl 69_37n +1 known missense c.3677 p.H1226P 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 66 0 0.00 75 26 25.74 - - - DUSP10 0 genome.wustl.edu 37 1 221912942 221912942 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 221912942 221912942 T G SNP DUSP10 ENST00000366899 human ensembl 69_37n -1 known missense c.145 p.T49P 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 119 1 0.83 140 34 19.32 - - - DUSP11 0 genome.wustl.edu 37 2 73989847 73989847 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 73989847 73989847 A C SNP DUSP11 ENST00000272444 human ensembl 69_37n -1 known missense c.1075 p.W359G 0.012 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors DUSP11 HGNC ENSG00000144048 153 1 0.65 92 28 23.33 - - - DYNC1H1 0 genome.wustl.edu 37 14 102483426 102483426 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 102483426 102483426 T G SNP DYNC1H1 ENST00000360184 human ensembl 69_37n +1 known missense c.7850 p.V2617G 1.000 smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 129 1 0.76 77 26 25.00 - - - DYNC1H1 0 genome.wustl.edu 37 14 102496051 102496051 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 102496051 102496051 T G SNP DYNC1H1 ENST00000360184 human ensembl 69_37n +1 known splice_site c.9642+2 e49+2 1.000 - - - no_errors DYNC1H1 HGNC ENSG00000197102 53 0 0.00 63 13 16.88 - - - DYNC1H1 0 genome.wustl.edu 37 14 102498773 102498773 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 102498773 102498773 A C SNP DYNC1H1 ENST00000360184 human ensembl 69_37n +1 known missense c.10048 p.T3350P 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 120 0 0.00 87 26 22.81 - - - DYNC1I1 0 genome.wustl.edu 37 7 95657609 95657609 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 95657609 95657609 A C SNP DYNC1I1 ENST00000324972 human ensembl 69_37n +1 known silent c.1143 p.T381 0.217 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 188 1 0.53 121 27 18.00 - - - DYSF 0 genome.wustl.edu 37 2 71788923 71788923 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 71788923 71788923 A C SNP DYSF ENST00000413539 human ensembl 69_37n +1 known missense c.2297 p.H766P 1.000 pfam_Ferlin_A-domain pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors DYSF HGNC ENSG00000135636 73 0 0.00 35 11 23.91 - - - DZIP1L 0 genome.wustl.edu 37 3 137822747 137822747 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 137822747 137822747 T G SNP DZIP1L ENST00000327532 human ensembl 69_37n -1 known missense c.67 p.T23P 0.004 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 50 0 0.00 38 10 20.83 - - - DZIP3 0 genome.wustl.edu 37 3 108409716 108409716 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 108409716 108409716 A C SNP DZIP3 ENST00000361582 human ensembl 69_37n +1 known missense c.3599 p.H1200P 0.992 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 101 1 0.98 92 18 16.36 - - - EBNA1BP2 0 genome.wustl.edu 37 1 43632905 43632905 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 43632905 43632905 A C SNP EBNA1BP2 ENST00000431635 human ensembl 69_37n -1 known missense c.704 p.V235G 1.000 pfam_Ebp2 pfam_Ebp2 - no_errors EBNA1BP2 HGNC ENSG00000117395 305 0 0.00 207 31 13.03 - - - ECM1 0 genome.wustl.edu 37 1 150482611 150482611 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 150482611 150482611 T C SNP ECM1 ENST00000369049 human ensembl 69_37n +1 known missense c.419 p.L140P 0.002 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 368 0 0.00 632 71 10.03 - - - ECM2 0 genome.wustl.edu 37 9 95277311 95277311 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 95277311 95277311 A C SNP ECM2 ENST00000344604 human ensembl 69_37n -1 known missense c.656 p.V219G 0.000 NULL pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC ENSG00000106823 401 1 0.25 332 38 10.22 - - - ECSIT 0 genome.wustl.edu 37 19 11624890 11624890 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 11624890 11624890 A C SNP ECSIT ENST00000270517 human ensembl 69_37n -1 known silent c.243 p.G81 0.000 pfam_ECSIT pfam_ECSIT - no_errors ECSIT HGNC ENSG00000130159 53 0 0.00 80 23 21.70 - - - EDC4 0 genome.wustl.edu 37 16 67911294 67911294 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 67911294 67911294 T G SNP EDC4 ENST00000358933 human ensembl 69_37n +1 known missense c.626 p.V209G 0.979 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 52 0 0.00 27 4 12.50 - - - EDIL3 0 genome.wustl.edu 37 5 83402620 83402620 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 83402620 83402620 A C SNP EDIL3 ENST00000296591 human ensembl 69_37n -1 known silent c.498 p.G166 0.826 superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 260 2 0.76 191 23 10.70 - - - EDN1 0 genome.wustl.edu 37 6 12292712 12292712 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 12292712 12292712 A C SNP EDN1 ENST00000379375 human ensembl 69_37n +1 known missense c.203 p.H68P 1.000 pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN1 HGNC ENSG00000078401 153 0 0.00 115 22 15.94 - - - EDNRA 0 genome.wustl.edu 37 4 148457053 148457053 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 148457053 148457053 T G SNP EDNRA ENST00000324300 human ensembl 69_37n +1 known missense c.772 p.W258G 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Endthln_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_ETA_rcpt,prints_Endthln_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors EDNRA HGNC ENSG00000151617 385 2 0.52 290 33 10.19 - - - EEA1 0 genome.wustl.edu 37 12 93172946 93172946 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 93172946 93172946 A C SNP EEA1 ENST00000322349 human ensembl 69_37n -1 known missense c.3599 p.V1200G 0.867 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 300 0 0.00 181 28 13.40 - - - EEA1 0 genome.wustl.edu 37 12 93213144 93213144 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 93213144 93213144 A C SNP EEA1 ENST00000322349 human ensembl 69_37n -1 known silent c.1668 p.G556 0.970 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 261 0 0.00 174 22 11.22 - - - EFCAB13 0 genome.wustl.edu 37 17 45481284 45481284 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 45481284 45481284 T G SNP EFCAB13 ENST00000331493 human ensembl 69_37n +1 known silent c.2058 p.G686 0.811 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 138 1 0.72 123 24 16.33 - - - EFCAB6 0 genome.wustl.edu 37 22 44131782 44131782 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 44131782 44131782 A C SNP EFCAB6 ENST00000262726 human ensembl 69_37n -1 known missense c.599 p.V200G 0.038 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC ENSG00000186976 327 0 0.00 392 44 10.09 - - - EFEMP1 0 genome.wustl.edu 37 2 56145146 56145146 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 56145146 56145146 A C SNP EFEMP1 ENST00000355426 human ensembl 69_37n -1 known silent c.171 p.G57 0.975 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 106 1 0.93 70 16 18.60 - - - EFEMP1 0 genome.wustl.edu 37 2 56149694 56149694 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 56149694 56149694 A C SNP EFEMP1 ENST00000497698 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors EFEMP1 HGNC ENSG00000115380 41 0 0.00 25 10 28.57 - - - EFTUD1 0 genome.wustl.edu 37 15 82512144 82512144 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 82512144 82512144 A C SNP EFTUD1 ENST00000268206 human ensembl 69_37n -1 known missense c.1460 p.V487G 0.023 superfamily_Transl_elong_init/rib_B-barrel pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 143 0 0.00 142 33 18.86 - - - EGF 0 genome.wustl.edu 37 4 110902053 110902053 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 110902053 110902053 T G SNP EGF ENST00000265171 human ensembl 69_37n +1 known missense c.2293 p.C765G 0.954 pirsf_Pro-epidermal_GF,smart_EGF-like_Ca-bd,smart_EGF-like pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_LDLR_classB_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 295 1 0.34 240 39 13.98 - - - EGR1 0 genome.wustl.edu 37 5 137802702 137802702 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 137802702 137802702 A C SNP EGR1 ENST00000239938 human ensembl 69_37n +1 known silent c.564 p.P188 1.000 pfam_DUF3446 pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 115 1 0.86 58 14 19.44 - - - EHBP1 0 genome.wustl.edu 37 2 62974547 62974547 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 62974547 62974547 T G SNP EHBP1 ENST00000263991 human ensembl 69_37n +1 known missense c.122 p.V41G 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 329 0 0.00 227 27 10.63 - - - EHBP1 0 genome.wustl.edu 37 2 63182766 63182766 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 63182766 63182766 A C SNP EHBP1 ENST00000263991 human ensembl 69_37n +1 known missense c.2536 p.T846P 0.997 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 88 0 0.00 100 18 15.25 - - - EHBP1 0 genome.wustl.edu 37 2 63217921 63217921 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 63217921 63217921 A C SNP EHBP1 ENST00000422032 human ensembl 69_37n +1 novel missense c.370 p.T124P 0.856 NULL NULL - no_start_codon:pseudogene EHBP1 HGNC ENSG00000115504 114 0 0.00 117 21 15.11 - - - EHMT2 0 genome.wustl.edu 37 6 31854604 31854604 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 31854604 31854604 T G SNP EHMT2 ENST00000395728 human ensembl 69_37n -1 known missense c.2360 p.H787P 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 98 0 0.00 58 12 16.90 - - - EIF2B2 0 genome.wustl.edu 37 14 75473393 75473393 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 75473393 75473393 A C SNP EIF2B2 ENST00000266126 human ensembl 69_37n +1 known silent c.807 p.A269 0.079 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B2 HGNC ENSG00000119718 217 0 0.00 232 31 11.74 - - - EIF2B5 0 genome.wustl.edu 37 3 183859753 183859753 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 183859753 183859753 T G SNP EIF2B5 ENST00000273783 human ensembl 69_37n +1 known silent c.1197 p.G399 0.648 superfamily_Trimer_LpxA-like pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 65 0 0.00 54 15 21.74 - - - EIF2D 0 genome.wustl.edu 37 1 206773123 206773123 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 206773123 206773123 A C SNP EIF2D ENST00000271764 human ensembl 69_37n -1 known missense c.1016 p.V339G 1.000 NULL pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC ENSG00000143486 128 0 0.00 171 45 20.83 - - - EIF3A 0 genome.wustl.edu 37 10 120797950 120797950 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 120797950 120797950 A C SNP EIF3A ENST00000369144 human ensembl 69_37n -1 known silent c.3528 p.G1176 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 194 0 0.00 185 28 12.96 - - - EIF4A1 0 genome.wustl.edu 37 17 7480972 7480972 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7480972 7480972 T G SNP EIF4A1 ENST00000293831 human ensembl 69_37n +1 known missense c.854 p.V285G 0.997 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A1 HGNC ENSG00000161960 219 1 0.45 110 20 15.38 - - - EIF4ENIF1 0 genome.wustl.edu 37 22 31837931 31837931 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 31837931 31837931 T G SNP EIF4ENIF1 ENST00000330125 human ensembl 69_37n -1 known missense c.2380 p.T794P 1.000 NULL pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 150 1 0.66 95 28 22.40 - - - EIF4G1 0 genome.wustl.edu 37 3 184049067 184049067 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 184049067 184049067 T G SNP EIF4G1 ENST00000352767 human ensembl 69_37n +1 known missense c.4196 p.V1399G 1.000 superfamily_ARM-type_fold pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 92 0 0.00 120 35 22.58 - - - EIF4G2 0 genome.wustl.edu 37 11 10828816 10828816 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 10828816 10828816 A C SNP EIF4G2 ENST00000339995 human ensembl 69_37n -1 known silent c.27 p.G9 1.000 NULL pfam_MIF4G-like_typ-3,pfam_W2_domain,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_start_codon EIF4G2 HGNC ENSG00000110321 192 0 0.00 154 32 17.20 - - - EIF6 0 genome.wustl.edu 37 20 33867854 33867854 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 33867854 33867854 A C SNP EIF6 ENST00000374436 human ensembl 69_37n -1 known missense c.437 p.V146G 1.000 pfam_eIF6,smart_eIF6,pirsf_eIF6,tigrfam_eIF6 pfam_eIF6,smart_eIF6,pirsf_eIF6,tigrfam_eIF6 - no_errors EIF6 HGNC ENSG00000242372 177 0 0.00 107 22 16.79 - - - ELF4 0 genome.wustl.edu 37 X 129203483 129203483 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 129203483 129203483 T G SNP ELF4 ENST00000308167 human ensembl 69_37n -1 known missense c.979 p.T327P 0.001 NULL pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELF4 HGNC ENSG00000102034 133 1 0.74 71 17 19.32 - - - ELMOD3 0 genome.wustl.edu 37 2 85617536 85617536 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 85617536 85617536 A C SNP ELMOD3 ENST00000315658 human ensembl 69_37n +1 known missense c.1091 p.H364P 0.000 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD3 HGNC ENSG00000115459 242 0 0.00 72 19 20.88 - - - ELP2 0 genome.wustl.edu 37 18 33726233 33726233 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 33726233 33726233 T G SNP ELP2 ENST00000358232 human ensembl 69_37n +1 known silent c.1014 p.G338 0.996 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 323 0 0.00 165 28 14.51 - - - EMC1 0 genome.wustl.edu 37 1 19546202 19546202 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 19546202 19546202 A C SNP EMC1 ENST00000461353 human ensembl 69_37n -1 known rna NULL NULL 0.987 - - - no_errors EMC1 HGNC ENSG00000127463 140 0 0.00 82 22 21.15 - - - EMC7 0 genome.wustl.edu 37 15 34393964 34393964 + Splice_Site SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 34393964 34393964 A C SNP EMC7 ENST00000528949 human ensembl 69_37n -1 putative splice_site c.17+2 e1+2 0.976 - - - no_stop_codon EMC7 HGNC ENSG00000134153 74 0 0.00 51 16 23.53 - - - EML3 0 genome.wustl.edu 37 11 62376502 62376502 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62376502 62376502 T C SNP EML3 ENST00000394776 human ensembl 69_37n -1 novel missense c.844 p.R282G 0.998 superfamily_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EML3 HGNC ENSG00000149499 74 0 0.00 38 10 20.83 - - - EMR1 0 genome.wustl.edu 37 19 6896450 6896450 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 6896450 6896450 A C SNP EMR1 ENST00000312053 human ensembl 69_37n +1 known missense c.136 p.T46P 0.002 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 299 0 0.00 229 31 11.79 - - - ENAM 0 genome.wustl.edu 37 4 71500213 71500213 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 71500213 71500213 A C SNP ENAM ENST00000396073 human ensembl 69_37n +1 known silent c.399 p.P133 0.022 NULL NULL - no_errors ENAM HGNC ENSG00000132464 175 0 0.00 219 30 12.00 - - - ENAM 0 genome.wustl.edu 37 4 71501557 71501557 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 71501557 71501557 A C SNP ENAM ENST00000396073 human ensembl 69_37n +1 known silent c.480 p.P160 1.000 NULL NULL - no_errors ENAM HGNC ENSG00000132464 211 2 0.94 172 35 16.91 - - - ENAM 0 genome.wustl.edu 37 4 71501593 71501593 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 71501593 71501593 A C SNP ENAM ENST00000396073 human ensembl 69_37n +1 known silent c.516 p.P172 1.000 NULL NULL - no_errors ENAM HGNC ENSG00000132464 239 2 0.83 187 34 15.25 - - - ENO2 0 genome.wustl.edu 37 12 7031220 7031220 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 7031220 7031220 T G SNP ENO2 ENST00000229277 human ensembl 69_37n +1 known missense c.1069 p.C357G 1.000 pfam_Enolase_C,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO2 HGNC ENSG00000111674 72 0 0.00 39 8 17.02 - - - ENPP1 0 genome.wustl.edu 37 6 132201104 132201104 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 132201104 132201104 A C SNP ENPP1 ENST00000360971 human ensembl 69_37n +1 known missense c.2030 p.H677P 1.000 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 288 0 0.00 186 23 11.00 - - - ENPP1 0 genome.wustl.edu 37 6 132203610 132203610 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 132203610 132203610 A C SNP ENPP1 ENST00000360971 human ensembl 69_37n +1 known silent c.2226 p.P742 0.912 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 181 0 0.00 111 30 21.13 - - - ENPP3 0 genome.wustl.edu 37 6 132043535 132043535 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 132043535 132043535 A C SNP ENPP3 ENST00000357639 human ensembl 69_37n +1 known missense c.1736 p.H579P 0.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 151 1 0.66 144 18 11.04 - - - ENPP4 0 genome.wustl.edu 37 6 46107848 46107848 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 46107848 46107848 A C SNP ENPP4 ENST00000321037 human ensembl 69_37n +1 known silent c.528 p.P176 0.592 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 300 0 0.00 275 31 10.13 - - - ENSG00000231064 0 genome.wustl.edu 37 1 155169993 155169993 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 155169993 155169993 A C SNP ENSG00000231064 ENST00000436772 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RP11-263K19.4 Clone_based_vega_gene ENSG00000231064 33 0 0.00 65 14 17.72 - - - ENSG00000235434 0 genome.wustl.edu 37 1 20141048 20141048 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 20141048 20141048 T G SNP ENSG00000235434 ENST00000454736 human ensembl 69_37n +1 putative splice_site c.NULL NULL 0.000 - - - no_errors RP11-91K11.2 Clone_based_vega_gene ENSG00000235434 52 0 0.00 26 7 21.21 - - - ENTPD1 0 genome.wustl.edu 37 10 97604242 97604242 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 97604242 97604242 T G SNP ENTPD1 ENST00000371207 human ensembl 69_37n +1 known missense c.459 p.S153R 0.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD1 HGNC ENSG00000138185 227 1 0.43 178 22 11.00 - - - ENTPD1 0 genome.wustl.edu 37 10 97604262 97604262 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 97604262 97604262 T G SNP ENTPD1 ENST00000371207 human ensembl 69_37n +1 known missense c.479 p.V160G 0.998 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD1 HGNC ENSG00000138185 237 2 0.84 187 33 14.86 - - - ENTPD3 0 genome.wustl.edu 37 3 40468764 40468764 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 40468764 40468764 T G SNP ENTPD3 ENST00000301825 human ensembl 69_37n +1 known missense c.1355 p.V452G 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD3 HGNC ENSG00000168032 144 1 0.69 180 29 13.81 - - - ENTPD5 0 genome.wustl.edu 37 14 74438595 74438595 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 74438595 74438595 A C SNP ENTPD5 ENST00000555829 human ensembl 69_37n -1 putative missense c.68 p.V23G 0.799 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ENTPD5 HGNC ENSG00000187097 374 2 0.53 279 43 13.27 - - - ENTPD5 0 genome.wustl.edu 37 14 74439685 74439685 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 74439685 74439685 A C SNP ENTPD5 ENST00000334696 human ensembl 69_37n -1 known missense c.929 p.V310G 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD5 HGNC ENSG00000187097 365 3 0.81 266 47 14.97 - - - ENTPD5 0 genome.wustl.edu 37 14 74439721 74439721 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 74439721 74439721 A C SNP ENTPD5 ENST00000334696 human ensembl 69_37n -1 known missense c.893 p.V298G 0.426 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD5 HGNC ENSG00000187097 323 3 0.92 228 47 17.09 - - - EP300 0 genome.wustl.edu 37 22 41564860 41564860 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 41564860 41564860 A C SNP EP300 ENST00000263253 human ensembl 69_37n +1 known silent c.4161 p.P1387 0.267 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 164 0 0.00 106 18 14.40 - - - EP300 0 genome.wustl.edu 37 22 41573463 41573463 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 41573463 41573463 A C SNP EP300 ENST00000263253 human ensembl 69_37n +1 known silent c.5748 p.P1916 0.984 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 118 1 0.83 113 27 19.29 - - - EPB41L4B 0 genome.wustl.edu 37 9 111966008 111966008 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 111966008 111966008 A C SNP EPB41L4B ENST00000374566 human ensembl 69_37n -1 known silent c.1881 p.G627 0.999 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L4B HGNC ENSG00000095203 235 0 0.00 221 26 10.48 - - - EPHA1 0 genome.wustl.edu 37 7 143092493 143092493 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 143092493 143092493 A C SNP EPHA1 ENST00000275815 human ensembl 69_37n -1 known missense c.2002 p.W668G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA1 HGNC ENSG00000146904 241 1 0.41 142 31 17.71 - - - EPHA3 0 genome.wustl.edu 37 3 89390198 89390198 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 89390198 89390198 A C SNP EPHA3 ENST00000336596 human ensembl 69_37n +1 known missense c.947 p.D316A 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA3 HGNC ENSG00000044524 289 2 0.68 201 49 19.60 - - - EPHA4 0 genome.wustl.edu 37 2 222294870 222294870 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 222294870 222294870 A C SNP EPHA4 ENST00000281821 human ensembl 69_37n -1 known missense c.2498 p.V833G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 104 1 0.94 77 21 21.21 - - - EPHA5 0 genome.wustl.edu 37 4 66356345 66356345 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 66356345 66356345 A C SNP EPHA5 ENST00000273854 human ensembl 69_37n -1 known silent c.1152 p.G384 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 78 0 0.00 75 15 16.67 - - - EPHA6 0 genome.wustl.edu 37 3 96945244 96945244 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 96945244 96945244 A C SNP EPHA6 ENST00000389672 human ensembl 69_37n +1 known silent c.1251 p.P417 0.999 superfamily_Growth_fac_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 279 1 0.36 270 36 11.76 - - - EPHB1 0 genome.wustl.edu 37 3 134670535 134670535 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 134670535 134670535 T G SNP EPHB1 ENST00000398015 human ensembl 69_37n +1 known missense c.446 p.V149G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB1 HGNC ENSG00000154928 381 0 0.00 299 39 11.37 - - - EPHB1 0 genome.wustl.edu 37 3 134670610 134670610 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 134670610 134670610 A C SNP EPHB1 ENST00000398015 human ensembl 69_37n +1 known missense c.521 p.Y174S 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB1 HGNC ENSG00000154928 417 2 0.48 315 36 10.17 - - - EPHB1 0 genome.wustl.edu 37 3 134873002 134873002 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 134873002 134873002 A C SNP EPHB1 ENST00000398015 human ensembl 69_37n +1 known missense c.1306 p.T436P 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB1 HGNC ENSG00000154928 311 3 0.95 311 55 14.95 - - - EPHB1 0 genome.wustl.edu 37 3 134885850 134885850 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 134885850 134885850 T G SNP EPHB1 ENST00000398015 human ensembl 69_37n +1 known splice_site c.1759+2 e9+2 1.000 - - - no_errors EPHB1 HGNC ENSG00000154928 330 3 0.90 201 44 17.81 - - - EPN3 0 genome.wustl.edu 37 17 48619018 48619018 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 48619018 48619018 A C SNP EPN3 ENST00000537145 human ensembl 69_37n +1 known silent c.1632 p.A544 0.013 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC ENSG00000049283 58 0 0.00 58 11 15.71 - - - EPS8 0 genome.wustl.edu 37 12 15784425 15784425 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 15784425 15784425 A C SNP EPS8 ENST00000281172 human ensembl 69_37n -1 known silent c.1995 p.G665 0.196 NULL pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 221 1 0.45 259 35 11.86 - - - EPS8L3 0 genome.wustl.edu 37 1 110294721 110294721 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 110294721 110294721 A G SNP EPS8L3 ENST00000369805 human ensembl 69_37n -1 known missense c.1333 p.S445P 0.003 superfamily_SH3_domain pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 113 0 0.00 68 11 13.92 - - - ERAP1 0 genome.wustl.edu 37 5 96124326 96124326 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 96124326 96124326 A C SNP ERAP1 ENST00000296754 human ensembl 69_37n -1 known silent c.1587 p.G529 0.992 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ENSG00000164307 111 1 0.89 128 18 12.33 - - - ERBB2 0 genome.wustl.edu 37 17 37880220 37880220 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 37880220 37880220 T C SNP ERBB2 ENST00000269571 human ensembl 69_37n +1 known missense c.2264 p.L755S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 38 0 0.00 26 19 42.22 - - - ERBB4 0 genome.wustl.edu 37 2 212248370 212248370 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 212248370 212248370 T G SNP ERBB4 ENST00000342788 human ensembl 69_37n -1 known silent c.3897 p.P1299 0.188 NULL pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB4 HGNC ENSG00000178568 105 0 0.00 64 12 15.79 - - - ERC1 0 genome.wustl.edu 37 12 1137101 1137101 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 1137101 1137101 T G SNP ERC1 ENST00000360905 human ensembl 69_37n +1 known missense c.32 p.V11G 1.000 NULL pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 155 0 0.00 167 30 15.23 - - - ERC2 0 genome.wustl.edu 37 3 56468827 56468827 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 56468827 56468827 A C SNP ERC2 ENST00000288221 human ensembl 69_37n -1 known missense c.209 p.V70G 1.000 NULL pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 327 1 0.30 349 40 10.28 - - - ERCC2 0 genome.wustl.edu 37 19 45858035 45858035 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 45858035 45858035 T G SNP ERCC2 ENST00000391945 human ensembl 69_37n -1 known missense c.1618 p.T540P 1.000 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ENSG00000104884 126 1 0.79 60 13 17.81 - - - ERCC3 0 genome.wustl.edu 37 2 128038189 128038189 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 128038189 128038189 A C SNP ERCC3 ENST00000285398 human ensembl 69_37n -1 known missense c.1361 p.V454G 1.000 pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_XPGB_DNA_repair,tigrfam_XPGB_DNA_repair - no_errors ERCC3 HGNC ENSG00000163161 81 0 0.00 75 37 33.04 - - - ERCC4 0 genome.wustl.edu 37 16 14028087 14028087 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 14028087 14028087 T G SNP ERCC4 ENST00000311895 human ensembl 69_37n +1 known missense c.1141 p.W381G 1.000 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 185 0 0.00 198 23 10.31 - - - ERCC6 0 genome.wustl.edu 37 10 50667150 50667150 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 50667150 50667150 T G SNP ERCC6 ENST00000355832 human ensembl 69_37n -1 known missense c.4193 p.H1398P 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 219 0 0.00 191 24 11.11 - - - ERCC6L 0 genome.wustl.edu 37 X 71425225 71425225 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 71425225 71425225 A C SNP ERCC6L ENST00000334463 human ensembl 69_37n -1 known missense c.3392 p.V1131G 0.272 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 260 0 0.00 173 24 12.12 - - - ERCC6L 0 genome.wustl.edu 37 X 71426165 71426165 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 71426165 71426165 A C SNP ERCC6L ENST00000334463 human ensembl 69_37n -1 known missense c.2452 p.F818V 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 256 1 0.39 165 23 12.23 - - - ERCC6L2 0 genome.wustl.edu 37 9 98774878 98774878 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 98774878 98774878 T G SNP ERCC6L2 ENST00000407474 human ensembl 69_37n +1 known missense c.989 p.V330G 0.000 NULL NULL - no_errors ERCC6L2 HGNC ENSG00000182150 133 0 0.00 56 15 21.13 - - - ERGIC1 0 genome.wustl.edu 37 5 172315722 172315722 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 172315722 172315722 T G SNP ERGIC1 ENST00000393784 human ensembl 69_37n +1 known missense c.41 p.V14G 1.000 NULL pfam_DUF1692 - no_errors ERGIC1 HGNC ENSG00000113719 40 0 0.00 48 11 18.64 - - - ERMN 0 genome.wustl.edu 37 2 158177978 158177978 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 158177978 158177978 A C SNP ERMN ENST00000397283 human ensembl 69_37n -1 known silent c.699 p.G233 0.000 NULL superfamily_Moesin - no_errors ERMN HGNC ENSG00000136541 401 0 0.00 242 43 15.09 - - - ERMP1 0 genome.wustl.edu 37 9 5805087 5805087 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 5805087 5805087 T G SNP ERMP1 ENST00000339450 human ensembl 69_37n -1 known silent c.1854 p.P618 0.980 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 269 1 0.37 246 52 17.39 - - - ERN2 0 genome.wustl.edu 37 16 23703405 23703405 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 23703405 23703405 A C SNP ERN2 ENST00000256797 human ensembl 69_37n -1 known missense c.2399 p.V800G 0.990 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom - no_errors ERN2 HGNC ENSG00000134398 117 0 0.00 44 16 26.67 - - - ERN2 0 genome.wustl.edu 37 16 23713541 23713541 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 23713541 23713541 T G SNP ERN2 ENST00000256797 human ensembl 69_37n -1 known missense c.1279 p.T427P 0.023 NULL pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom - no_errors ERN2 HGNC ENSG00000134398 84 0 0.00 76 28 26.67 - - - ESPL1 0 genome.wustl.edu 37 12 53685501 53685501 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 53685501 53685501 A C SNP ESPL1 ENST00000257934 human ensembl 69_37n +1 known missense c.5548 p.T1850P 0.732 pfam_Peptidase_C50 pfam_Peptidase_C50 - no_errors ESPL1 HGNC ENSG00000135476 179 1 0.55 147 23 13.37 - - - ESX1 0 genome.wustl.edu 37 X 103495263 103495263 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 103495263 103495263 T G SNP ESX1 ENST00000372588 human ensembl 69_37n -1 known silent c.867 p.P289 0.132 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_POU,pfscan_Homeodomain - no_errors ESX1 HGNC ENSG00000123576 47 0 0.00 29 5 14.71 - - - ESX1 0 genome.wustl.edu 37 X 103497468 103497468 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 103497468 103497468 A C SNP ESX1 ENST00000372588 human ensembl 69_37n -1 known missense c.548 p.V183G 0.999 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_POU,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_POU,pfscan_Homeodomain - no_errors ESX1 HGNC ENSG00000123576 294 0 0.00 194 25 11.31 - - - ESYT1 0 genome.wustl.edu 37 12 56531159 56531159 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 56531159 56531159 T G SNP ESYT1 ENST00000267113 human ensembl 69_37n +1 known splice_site c.1968+2 e17+2 1.000 - - - no_errors ESYT1 HGNC ENSG00000139641 99 1 1.00 159 23 12.43 - - - ETFDH 0 genome.wustl.edu 37 4 159620193 159620193 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 159620193 159620193 T G SNP ETFDH ENST00000511912 human ensembl 69_37n +1 known missense c.1027 p.W343G 1.000 NULL pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors ETFDH HGNC ENSG00000171503 238 1 0.42 191 25 11.52 - - - ETNK2 0 genome.wustl.edu 37 1 204106365 204106365 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 204106365 204106365 A C SNP ETNK2 ENST00000367201 human ensembl 69_37n -1 known missense c.881 p.V294G 0.988 pfam_Choline/ethanolamine_kinase,superfamily_Kinase-like_dom pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors ETNK2 HGNC ENSG00000143845 73 0 0.00 120 29 19.46 - - - ETS1 0 genome.wustl.edu 37 11 128359261 128359261 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 128359261 128359261 A C SNP ETS1 ENST00000392668 human ensembl 69_37n -1 known silent c.459 p.G153 0.853 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transforming_factor_C-ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS1 HGNC ENSG00000134954 429 0 0.00 291 36 10.98 - - - ETS1 0 genome.wustl.edu 37 11 128359312 128359312 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 128359312 128359312 A C SNP ETS1 ENST00000392668 human ensembl 69_37n -1 known silent c.408 p.G136 0.505 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transforming_factor_C-ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS1 HGNC ENSG00000134954 348 0 0.00 234 32 11.94 - - - ETS2 0 genome.wustl.edu 37 21 40190507 40190507 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 40190507 40190507 A C SNP ETS2 ENST00000360214 human ensembl 69_37n +1 known missense c.748 p.T250P 0.803 pirsf_Transforming_factor_C-ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS2 HGNC ENSG00000157557 313 1 0.32 264 37 12.29 - - - ETV3L 0 genome.wustl.edu 37 1 157068562 157068562 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 157068562 157068562 T G SNP ETV3L ENST00000454449 human ensembl 69_37n -1 known missense c.422 p.H141P 0.000 NULL pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ETV3L HGNC ENSG00000253831 58 0 0.00 48 13 21.31 - - - EXOC4 0 genome.wustl.edu 37 7 133002111 133002111 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 133002111 133002111 A C SNP EXOC4 ENST00000253861 human ensembl 69_37n +1 known missense c.730 p.T244P 0.005 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 297 3 1.00 207 30 12.61 - - - EXOSC9 0 genome.wustl.edu 37 4 122734398 122734398 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 122734398 122734398 T G SNP EXOSC9 ENST00000379663 human ensembl 69_37n +1 known silent c.837 p.G279 0.998 NULL pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC9 HGNC ENSG00000123737 201 2 0.98 143 31 17.71 - - - EXT2 0 genome.wustl.edu 37 11 44135750 44135750 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 44135750 44135750 T G SNP EXT2 ENST00000395673 human ensembl 69_37n +1 known silent c.741 p.G247 0.126 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT2 HGNC ENSG00000151348 306 0 0.00 367 71 16.21 - - - EYA1 0 genome.wustl.edu 37 8 72229893 72229893 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 72229893 72229893 A C SNP EYA1 ENST00000465115 human ensembl 69_37n -1 known missense c.368 p.V123G 0.999 NULL NULL - no_errors EYA1 HGNC ENSG00000104313 340 0 0.00 220 29 11.65 - - - EYA3 0 genome.wustl.edu 37 1 28354403 28354403 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 28354403 28354403 A C SNP EYA3 ENST00000373871 human ensembl 69_37n -1 known silent c.396 p.G132 1.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA3 HGNC ENSG00000158161 234 0 0.00 183 33 15.28 - - - EYA3 0 genome.wustl.edu 37 1 28354406 28354406 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 28354406 28354406 A C SNP EYA3 ENST00000373871 human ensembl 69_37n -1 known missense c.393 p.S131R 1.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA3 HGNC ENSG00000158161 233 0 0.00 182 28 13.27 - - - EZH1 0 genome.wustl.edu 37 17 40864451 40864451 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 40864451 40864451 T G SNP EZH1 ENST00000428826 human ensembl 69_37n -1 known silent c.1257 p.P419 0.184 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 107 0 0.00 149 23 13.37 - - - FABP3 0 genome.wustl.edu 37 1 31842272 31842272 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 31842272 31842272 A C SNP FABP3 ENST00000373713 human ensembl 69_37n -1 known missense c.206 p.V69G 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP3 HGNC ENSG00000121769 454 2 0.44 392 69 14.87 - - - FAF1 0 genome.wustl.edu 37 1 51050413 51050413 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 51050413 51050413 A C SNP FAF1 ENST00000371778 human ensembl 69_37n -1 known missense c.911 p.V304G 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 143 1 0.69 94 27 22.31 - - - FAM102B 0 genome.wustl.edu 37 1 109171358 109171358 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 109171358 109171358 T G SNP FAM102B ENST00000370035 human ensembl 69_37n +1 known missense c.902 p.V301G 1.000 NULL pfam_NT-C2 - no_errors FAM102B HGNC ENSG00000162636 102 0 0.00 69 19 21.59 - - - FAM111A 0 genome.wustl.edu 37 11 58919898 58919898 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 58919898 58919898 A C SNP FAM111A ENST00000361723 human ensembl 69_37n +1 known missense c.757 p.T253P 0.733 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC ENSG00000166801 187 0 0.00 130 23 14.94 - - - FAM114A1 0 genome.wustl.edu 37 4 38879879 38879879 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 38879879 38879879 T G SNP FAM114A1 ENST00000358869 human ensembl 69_37n +1 known silent c.180 p.G60 0.004 NULL pfam_DUF719 - no_errors FAM114A1 HGNC ENSG00000197712 31 0 0.00 54 13 19.12 - - - FAM115C 0 genome.wustl.edu 37 7 143417368 143417368 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 143417368 143417368 A C SNP FAM115C ENST00000441159 human ensembl 69_37n +1 known missense c.1216 p.T406P 0.000 NULL NULL - no_errors FAM115C HGNC ENSG00000170379 20 0 0.00 3 7 70.00 - - - FAM122A 0 genome.wustl.edu 37 9 71395400 71395400 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 71395400 71395400 T G SNP FAM122A ENST00000394264 human ensembl 69_37n +1 known missense c.320 p.V107G 1.000 NULL NULL - no_errors FAM122A HGNC ENSG00000187866 131 0 0.00 91 23 20.18 - - - FAM122C 0 genome.wustl.edu 37 X 133941483 133941483 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 133941483 133941483 T G SNP FAM122C ENST00000470657 human ensembl 69_37n +1 known rna NULL NULL 0.038 - - - no_errors FAM122C HGNC ENSG00000156500 77 0 0.00 115 30 20.41 - - - FAM134A 0 genome.wustl.edu 37 2 220047075 220047075 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 220047075 220047075 A C SNP FAM134A ENST00000430297 human ensembl 69_37n +1 known silent c.1356 p.P452 1.000 NULL pfam_Reticulon - no_errors FAM134A HGNC ENSG00000144567 133 0 0.00 121 22 15.38 - - - FAM149A 0 genome.wustl.edu 37 4 187084674 187084674 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 187084674 187084674 A C SNP FAM149A ENST00000356371 human ensembl 69_37n +1 known silent c.1803 p.S601 0.000 NULL pfam_DUF3719 - no_errors FAM149A HGNC ENSG00000109794 71 0 0.00 109 22 16.79 - - - FAM160A2 0 genome.wustl.edu 37 11 6238903 6238903 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 6238903 6238903 A C SNP FAM160A2 ENST00000265978 human ensembl 69_37n -1 known missense c.1955 p.V652G 0.210 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 65 0 0.00 143 21 12.57 - - - FAM161A 0 genome.wustl.edu 37 2 62066908 62066908 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 62066908 62066908 A C SNP FAM161A ENST00000405894 human ensembl 69_37n -1 known missense c.1231 p.C411G 0.000 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161A HGNC ENSG00000170264 100 1 0.99 103 16 13.45 - - - FAM171A1 0 genome.wustl.edu 37 10 15262969 15262969 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 15262969 15262969 A C SNP FAM171A1 ENST00000378116 human ensembl 69_37n -1 known missense c.845 p.V282G 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 86 0 0.00 61 19 23.75 - - - FAM179B 0 genome.wustl.edu 37 14 45523696 45523696 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 45523696 45523696 T G SNP FAM179B ENST00000361577 human ensembl 69_37n +1 known missense c.4344 p.S1448R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 90 0 0.00 69 16 18.82 - - - FAM184A 0 genome.wustl.edu 37 6 119282952 119282952 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 119282952 119282952 T G SNP FAM184A ENST00000475529 human ensembl 69_37n -1 known missense c.1079 p.H360P 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FAM184A HGNC ENSG00000111879 187 0 0.00 150 26 14.77 - - - FAM188B 0 genome.wustl.edu 37 7 30830832 30830832 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 30830832 30830832 A C SNP FAM188B ENST00000265299 human ensembl 69_37n +1 known missense c.715 p.T239P 0.000 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 182 0 0.00 236 28 10.57 - - - FAM188B 0 genome.wustl.edu 37 7 30830880 30830880 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 30830880 30830880 A C SNP FAM188B ENST00000265299 human ensembl 69_37n +1 known missense c.763 p.T255P 0.000 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 156 1 0.64 184 33 15.07 - - - FAM189A2 0 genome.wustl.edu 37 9 71990653 71990653 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 71990653 71990653 T G SNP FAM189A2 ENST00000257515 human ensembl 69_37n +1 known missense c.125 p.V42G 1.000 pfam_CD20-like pfam_CD20-like - no_errors FAM189A2 HGNC ENSG00000135063 205 1 0.48 196 32 14.04 - - - FAM189B 0 genome.wustl.edu 37 1 155223496 155223496 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 155223496 155223496 T G SNP FAM189B ENST00000361361 human ensembl 69_37n -1 known missense c.541 p.T181P 1.000 pfam_CD20-like pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 87 0 0.00 43 12 21.82 - - - FAM190B 0 genome.wustl.edu 37 10 86185598 86185598 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 86185598 86185598 A C SNP FAM190B ENST00000372088 human ensembl 69_37n +1 known missense c.1817 p.H606P 0.998 NULL NULL - no_errors FAM190B HGNC ENSG00000107771 180 0 0.00 94 26 21.67 - - - FAM190B 0 genome.wustl.edu 37 10 86185607 86185607 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 86185607 86185607 A C SNP FAM190B ENST00000372088 human ensembl 69_37n +1 known missense c.1826 p.H609P 0.996 NULL NULL - no_errors FAM190B HGNC ENSG00000107771 180 0 0.00 94 29 23.39 - - - FAM193A 0 genome.wustl.edu 37 4 2701825 2701825 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 2701825 2701825 T C SNP FAM193A ENST00000324666 human ensembl 69_37n +1 known missense c.3053 p.L1018P 0.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 228 2 0.87 204 34 14.11 - - - FAM208A 0 genome.wustl.edu 37 3 56667531 56667531 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 56667531 56667531 A C SNP FAM208A ENST00000355628 human ensembl 69_37n -1 known silent c.3105 p.G1035 0.001 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 113 0 0.00 114 21 15.56 - - - FAM212B 0 genome.wustl.edu 37 1 112270410 112270410 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 112270410 112270410 A C SNP FAM212B ENST00000357260 human ensembl 69_37n -1 known missense c.74 p.V25G 1.000 NULL NULL - no_errors FAM212B HGNC ENSG00000197852 197 1 0.51 85 22 20.56 - - - FAM217B 0 genome.wustl.edu 37 20 58519948 58519948 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 58519948 58519948 T G SNP FAM217B ENST00000358293 human ensembl 69_37n +1 known missense c.950 p.V317G 0.002 NULL NULL - no_errors FAM217B HGNC ENSG00000196227 97 0 0.00 71 18 19.78 - - - FAM219A 0 genome.wustl.edu 37 9 34402310 34402310 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 34402310 34402310 T G SNP FAM219A ENST00000379078 human ensembl 69_37n -1 known missense c.416 p.H139P 0.000 NULL NULL - no_errors FAM219A HGNC ENSG00000164970 64 0 0.00 40 9 18.37 - - - FAM24B 0 genome.wustl.edu 37 10 124608796 124608796 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 124608796 124608796 T G SNP FAM24B ENST00000368896 human ensembl 69_37n -1 known silent c.252 p.P84 0.892 NULL NULL - no_errors FAM24B HGNC ENSG00000213185 203 0 0.00 164 28 14.51 - - - FAM40B 0 genome.wustl.edu 37 7 129094332 129094332 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 129094332 129094332 T G SNP FAM40B ENST00000249344 human ensembl 69_37n +1 known missense c.670 p.W224G 1.000 pfam_N1221 pfam_DUF3402,pfam_N1221 - no_errors FAM40B HGNC ENSG00000128578 45 0 0.00 54 16 22.86 - - - FAM47C 0 genome.wustl.edu 37 X 37027247 37027247 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 37027247 37027247 T G SNP FAM47C ENST00000358047 human ensembl 69_37n +1 known missense c.764 p.V255G 0.280 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 305 2 0.65 275 31 10.03 - - - FAM65A 0 genome.wustl.edu 37 16 67573656 67573656 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 67573656 67573656 T G SNP FAM65A ENST00000422602 human ensembl 69_37n +1 known splice_site c.420+2 e5+2 1.000 - - - no_errors FAM65A HGNC ENSG00000039523 340 1 0.29 148 22 12.79 - - - FAM65A 0 genome.wustl.edu 37 16 67575334 67575334 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 67575334 67575334 T G SNP FAM65A ENST00000422602 human ensembl 69_37n +1 known missense c.863 p.V288G 1.000 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 479 3 0.62 244 36 12.81 - - - FAM65A 0 genome.wustl.edu 37 16 67575397 67575397 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 67575397 67575397 A C SNP FAM65A ENST00000422602 human ensembl 69_37n +1 known missense c.926 p.D309A 1.000 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 334 2 0.60 176 21 10.61 - - - FAM65A 0 genome.wustl.edu 37 16 67576866 67576866 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 67576866 67576866 A C SNP FAM65A ENST00000422602 human ensembl 69_37n +1 known missense c.2237 p.H746P 0.000 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 290 2 0.68 89 37 28.91 - - - FAM65C 0 genome.wustl.edu 37 20 49221281 49221281 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 49221281 49221281 T G SNP FAM65C ENST00000535356 human ensembl 69_37n -1 known silent c.987 p.S329 0.183 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 19 0 0.00 15 5 25.00 - - - FAM71A 0 genome.wustl.edu 37 1 212798747 212798747 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 212798747 212798747 A C SNP FAM71A ENST00000294829 human ensembl 69_37n +1 known silent c.528 p.P176 0.050 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 193 0 0.00 265 34 11.37 - - - FAM75A6 0 genome.wustl.edu 37 9 43627223 43627223 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 43627223 43627223 T G SNP FAM75A6 ENST00000332857 human ensembl 69_37n -1 known silent c.1464 p.T488 0.003 NULL NULL - no_errors FAM75A6 HGNC ENSG00000185775 609 3 0.49 332 45 11.84 - - - FAM75D1 0 genome.wustl.edu 37 9 84606434 84606434 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 84606434 84606434 A C SNP FAM75D1 ENST00000344803 human ensembl 69_37n +1 known missense c.1049 p.H350P 0.000 NULL NULL - no_errors FAM75D1 HGNC ENSG00000214929 376 2 0.53 304 46 13.11 - - - FAM75D1 0 genome.wustl.edu 37 9 84608547 84608547 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 84608547 84608547 A C SNP FAM75D1 ENST00000344803 human ensembl 69_37n +1 known silent c.3162 p.S1054 0.002 NULL NULL - no_errors FAM75D1 HGNC ENSG00000214929 357 2 0.55 233 37 13.70 - - - FAM75D5 0 genome.wustl.edu 37 9 84530527 84530527 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 84530527 84530527 A C SNP FAM75D5 ENST00000527857 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FAM75D5 HGNC ENSG00000240632 205 2 0.97 185 25 11.85 - - - FAM75E1 0 genome.wustl.edu 37 9 90500950 90500950 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 90500950 90500950 A C SNP FAM75E1 ENST00000325643 human ensembl 69_37n +1 known silent c.1548 p.P516 0.000 NULL NULL - no_errors FAM75E1 HGNC ENSG00000177992 123 1 0.80 50 17 24.64 - - - FAM82B 0 genome.wustl.edu 37 8 87517285 87517285 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 87517285 87517285 A C SNP FAM82B ENST00000518772 human ensembl 69_37n -1 putative rna NULL NULL 0.772 - - - no_errors FAM82B HGNC ENSG00000176623 122 0 0.00 96 24 19.83 - - - FAM83B 0 genome.wustl.edu 37 6 54805005 54805005 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 54805005 54805005 A C SNP FAM83B ENST00000306858 human ensembl 69_37n +1 known silent c.1236 p.P412 0.012 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 182 0 0.00 177 21 10.45 - - - FAM86C1 0 genome.wustl.edu 37 11 71507229 71507229 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 71507229 71507229 A C SNP FAM86C1 ENST00000528685 human ensembl 69_37n +1 putative missense c.326 p.H109P 0.003 NULL NULL - no_errors FAM86C1 HGNC ENSG00000158483 60 0 0.00 48 20 28.99 - - - FANCC 0 genome.wustl.edu 37 9 97873816 97873816 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 97873816 97873816 T G SNP FANCC ENST00000289081 human ensembl 69_37n -1 known missense c.1258 p.T420P 0.007 pfam_Fanconi,pirsf_Fanconi,prints_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC ENSG00000158169 48 0 0.00 26 11 28.21 - - - FANCE 0 genome.wustl.edu 37 6 35426160 35426160 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 35426160 35426160 A C SNP FANCE ENST00000229769 human ensembl 69_37n +1 known silent c.1056 p.S352 0.300 pfam_Fanconi_anaemia_gr_E_prot_C pfam_Fanconi_anaemia_gr_E_prot_C - no_errors FANCE HGNC ENSG00000112039 164 0 0.00 167 33 16.42 - - - FAP 0 genome.wustl.edu 37 2 163044750 163044750 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 163044750 163044750 A C SNP FAP ENST00000188790 human ensembl 69_37n -1 known silent c.1743 p.G581 0.999 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 244 1 0.41 134 26 16.15 - - - FAT1 0 genome.wustl.edu 37 4 187541453 187541453 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 187541453 187541453 A C SNP FAT1 ENST00000441802 human ensembl 69_37n -1 known missense c.6287 p.V2096G 0.999 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,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 FAT1 HGNC ENSG00000083857 248 1 0.40 173 25 12.50 - - - FAT1 0 genome.wustl.edu 37 4 187629077 187629077 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 187629077 187629077 A C SNP FAT1 ENST00000441802 human ensembl 69_37n -1 known silent c.1905 p.G635 0.457 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,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 FAT1 HGNC ENSG00000083857 69 0 0.00 83 19 18.63 - - - FAT2 0 genome.wustl.edu 37 5 150901505 150901505 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 150901505 150901505 A C SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known missense c.10649 p.V3550G 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 45 0 0.00 46 14 23.33 - - - FAT2 0 genome.wustl.edu 37 5 150923189 150923189 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 150923189 150923189 A C SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known missense c.7499 p.V2500G 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 227 0 0.00 174 33 15.79 - - - FAT2 0 genome.wustl.edu 37 5 150924613 150924613 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 150924613 150924613 A C SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known silent c.6075 p.G2025 0.294 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 229 2 0.86 211 31 12.81 - - - FAT3 0 genome.wustl.edu 37 11 92495071 92495071 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 92495071 92495071 T G SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known missense c.3719 p.V1240G 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 783 0 0.00 518 68 11.58 - - - FAT4 0 genome.wustl.edu 37 4 126370103 126370103 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 126370103 126370103 T G SNP FAT4 ENST00000394329 human ensembl 69_37n +1 known silent c.7932 p.G2644 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 110 0 0.00 70 32 31.37 - - - FAT4 0 genome.wustl.edu 37 4 126412028 126412028 + Missense_Mutation SNP C C T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 126412028 126412028 C T SNP FAT4 ENST00000394329 human ensembl 69_37n +1 known missense c.14051 p.T4684I 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 237 0 0.00 153 41 21.03 - - - FAXC 0 genome.wustl.edu 37 6 99729204 99729204 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 99729204 99729204 T G SNP FAXC ENST00000389677 human ensembl 69_37n -1 known missense c.1066 p.T356P 0.883 NULL superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC ENSG00000146267 207 2 0.96 127 27 17.31 - - - FBL 0 genome.wustl.edu 37 19 40331154 40331154 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 40331154 40331154 A C SNP FBL ENST00000221801 human ensembl 69_37n -1 known silent c.183 p.G61 0.890 pirsf_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBL HGNC ENSG00000105202 457 2 0.43 504 66 11.52 - - - FBN1 0 genome.wustl.edu 37 15 48707867 48707867 + Nonsense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 48707867 48707867 A C SNP FBN1 ENST00000316623 human ensembl 69_37n -1 known nonsense c.7917 p.Y2639* 0.399 pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 134 0 0.00 102 29 22.14 - - - FBN3 0 genome.wustl.edu 37 19 8156389 8156389 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 8156389 8156389 T G SNP FBN3 ENST00000270509 human ensembl 69_37n -1 known silent c.5991 p.P1997 0.842 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 110 0 0.00 128 23 15.13 - - - FBXL2 0 genome.wustl.edu 37 3 33420262 33420262 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 33420262 33420262 A C SNP FBXL2 ENST00000446237 human ensembl 69_37n +1 known missense c.110 p.H37P 0.000 NULL NULL - no_errors FBXL2 HGNC ENSG00000153558 111 0 0.00 75 20 20.83 - - - FBXO21 0 genome.wustl.edu 37 12 117593716 117593716 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 117593716 117593716 T G SNP FBXO21 ENST00000330622 human ensembl 69_37n -1 known missense c.1576 p.T526P 0.987 pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 50 0 0.00 39 14 25.93 - - - FBXO21 0 genome.wustl.edu 37 12 117604763 117604763 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 117604763 117604763 A C SNP FBXO21 ENST00000330622 human ensembl 69_37n -1 known missense c.1133 p.V378G 1.000 superfamily_F-box_dom_cyclin-like pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 173 0 0.00 163 29 15.10 - - - FBXO21 0 genome.wustl.edu 37 12 117612479 117612479 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 117612479 117612479 T G SNP FBXO21 ENST00000330622 human ensembl 69_37n -1 known missense c.716 p.H239P 1.000 superfamily_F-box_dom_cyclin-like pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 132 1 0.75 125 32 20.25 - - - FBXO22 0 genome.wustl.edu 37 15 76222285 76222285 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 76222285 76222285 T G SNP FBXO22 ENST00000308275 human ensembl 69_37n +1 known missense c.689 p.V230G 0.026 NULL pfam_FIST_C_domain,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like - no_errors FBXO22 HGNC ENSG00000167196 295 0 0.00 203 33 13.92 - - - FBXO24 0 genome.wustl.edu 37 7 100193238 100193238 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 100193238 100193238 T G SNP FBXO24 ENST00000427939 human ensembl 69_37n +1 known missense c.1229 p.V410G 1.000 superfamily_Reg_csome_cond/b-lactamase_inh pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 55 0 0.00 62 12 16.22 - - - FBXO30 0 genome.wustl.edu 37 6 146125879 146125879 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 146125879 146125879 A C SNP FBXO30 ENST00000237281 human ensembl 69_37n -1 known missense c.1663 p.C555G 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 308 0 0.00 228 35 13.26 - - - FBXO30 0 genome.wustl.edu 37 6 146126453 146126453 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 146126453 146126453 A C SNP FBXO30 ENST00000237281 human ensembl 69_37n -1 known silent c.1089 p.G363 0.188 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 333 3 0.89 254 33 11.50 - - - FBXO30 0 genome.wustl.edu 37 6 146126544 146126544 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 146126544 146126544 A C SNP FBXO30 ENST00000237281 human ensembl 69_37n -1 known missense c.998 p.V333G 0.959 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 263 0 0.00 196 33 14.35 - - - FBXO34 0 genome.wustl.edu 37 14 55818683 55818683 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 55818683 55818683 T G SNP FBXO34 ENST00000313833 human ensembl 69_37n +1 known missense c.1575 p.S525R 0.000 NULL superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO34 HGNC ENSG00000178974 192 1 0.52 185 21 10.10 - - - FBXO46 0 genome.wustl.edu 37 19 46215466 46215466 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 46215466 46215466 T G SNP FBXO46 ENST00000317683 human ensembl 69_37n -1 known missense c.1288 p.T430P 0.009 NULL superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO46 HGNC ENSG00000177051 19 0 0.00 14 6 30.00 - - - FBXO7 0 genome.wustl.edu 37 22 32887130 32887130 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 32887130 32887130 A C SNP FBXO7 ENST00000266087 human ensembl 69_37n +1 known missense c.929 p.D310A 1.000 pfam_Inhibitor_PI31 pfam_Inhibitor_PI31,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO7 HGNC ENSG00000100225 129 1 0.77 59 20 25.32 - - - FBXO7 0 genome.wustl.edu 37 22 32894237 32894237 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 32894237 32894237 A C SNP FBXO7 ENST00000266087 human ensembl 69_37n +1 known missense c.1289 p.H430P 0.017 superfamily_F-box_dom_cyclin-like pfam_Inhibitor_PI31,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO7 HGNC ENSG00000100225 520 1 0.19 259 41 13.62 - - - FBXW7 0 genome.wustl.edu 37 4 153247265 153247265 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 153247265 153247265 T C SNP FBXW7 ENST00000281708 human ensembl 69_37n -1 known missense c.1537 p.R513G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW7 HGNC ENSG00000109670 166 1 0.60 133 22 14.19 - - - FCGR3A 0 genome.wustl.edu 37 1 161514722 161514722 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 161514722 161514722 A C SNP FCGR3A ENST00000367969 human ensembl 69_37n -1 known missense c.454 p.W152G 0.000 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like - no_errors FCGR3A HGNC ENSG00000203747 33 0 0.00 68 25 26.60 - - - FCRL4 0 genome.wustl.edu 37 1 157548586 157548586 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 157548586 157548586 A C SNP FCRL4 ENST00000271532 human ensembl 69_37n -1 known missense c.1334 p.V445G 0.067 NULL pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL4 HGNC ENSG00000163518 39 0 0.00 31 11 26.19 - - - FEM1C 0 genome.wustl.edu 37 5 114878898 114878898 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 114878898 114878898 A C SNP FEM1C ENST00000274457 human ensembl 69_37n -1 known missense c.293 p.V98G 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1C HGNC ENSG00000145780 77 0 0.00 39 12 23.53 - - - FER1L6 0 genome.wustl.edu 37 8 125083835 125083835 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 125083835 125083835 A C SNP FER1L6 ENST00000399018 human ensembl 69_37n +1 known missense c.4055 p.H1352P 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 81 0 0.00 50 11 17.74 - - - FERMT2 0 genome.wustl.edu 37 14 53417141 53417141 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 53417141 53417141 A C SNP FERMT2 ENST00000343279 human ensembl 69_37n -1 known missense c.146 p.V49G 1.000 NULL pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 73 0 0.00 29 12 29.27 - - - FETUB 0 genome.wustl.edu 37 3 186370157 186370157 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 186370157 186370157 T C SNP FETUB ENST00000265029 human ensembl 69_37n +1 known missense c.886 p.S296P 0.000 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 538 2 0.37 393 56 12.42 - - - FETUB 0 genome.wustl.edu 37 3 186370283 186370283 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 186370283 186370283 A C SNP FETUB ENST00000265029 human ensembl 69_37n +1 known missense c.1012 p.T338P 0.000 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 377 3 0.79 213 32 13.01 - - - FEZ1 0 genome.wustl.edu 37 11 125325954 125325954 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 125325954 125325954 A C SNP FEZ1 ENST00000278919 human ensembl 69_37n -1 known missense c.716 p.V239G 1.000 pfam_FEZ pfam_FEZ - no_errors FEZ1 HGNC ENSG00000149557 58 0 0.00 42 13 23.64 - - - FEZ2 0 genome.wustl.edu 37 2 36787957 36787957 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 36787957 36787957 T G SNP FEZ2 ENST00000379245 human ensembl 69_37n -1 novel missense c.955 p.T319P 1.000 NULL pfam_FEZ - no_errors FEZ2 HGNC ENSG00000171055 265 0 0.00 213 26 10.79 - - - FGA 0 genome.wustl.edu 37 4 155507334 155507334 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 155507334 155507334 A C SNP FGA ENST00000302053 human ensembl 69_37n -1 known missense c.1247 p.V416G 0.000 NULL pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC ENSG00000171560 211 1 0.47 245 33 11.87 - - - FGF23 0 genome.wustl.edu 37 12 4481814 4481814 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 4481814 4481814 A C SNP FGF23 ENST00000237837 human ensembl 69_37n -1 known silent c.261 p.G87 0.864 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF23 HGNC ENSG00000118972 133 0 0.00 121 17 12.32 - - - FGFR1 0 genome.wustl.edu 37 8 38271806 38271806 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 38271806 38271806 A C SNP FGFR1 ENST00000425967 human ensembl 69_37n -1 known missense c.2143 p.W715G 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR1 HGNC ENSG00000077782 41 0 0.00 39 10 20.41 - - - FGFR4 0 genome.wustl.edu 37 5 176520398 176520398 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 176520398 176520398 A C SNP FGFR4 ENST00000292410 human ensembl 69_37n +1 known missense c.1123 p.T375P 0.002 pirsf_Tyr_kinase_fibroblast_GF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR4 HGNC ENSG00000160867 143 1 0.68 72 9 10.98 - - - FHL5 0 genome.wustl.edu 37 6 97058462 97058462 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 97058462 97058462 T G SNP FHL5 ENST00000326771 human ensembl 69_37n +1 known silent c.519 p.G173 0.993 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC ENSG00000112214 179 1 0.56 132 24 15.38 - - - FHOD3 0 genome.wustl.edu 37 18 34349323 34349323 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 34349323 34349323 A C SNP FHOD3 ENST00000257209 human ensembl 69_37n +1 known missense c.4171 p.T1391P 1.000 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD3 HGNC ENSG00000134775 64 0 0.00 46 16 25.81 - - - FIG4 0 genome.wustl.edu 37 6 110064465 110064465 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 110064465 110064465 A C SNP FIG4 ENST00000230124 human ensembl 69_37n +1 known silent c.1029 p.P343 0.960 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 182 0 0.00 104 35 25.00 - - - FILIP1 0 genome.wustl.edu 37 6 76022235 76022235 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 76022235 76022235 T G SNP FILIP1 ENST00000237172 human ensembl 69_37n -1 known missense c.3313 p.T1105P 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 286 0 0.00 199 25 11.06 - - - FILIP1 0 genome.wustl.edu 37 6 76023944 76023944 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 76023944 76023944 A C SNP FILIP1 ENST00000237172 human ensembl 69_37n -1 known missense c.1604 p.V535G 0.957 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 218 0 0.00 138 16 10.39 - - - FLAD1 0 genome.wustl.edu 37 1 154955875 154955875 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 154955875 154955875 T G SNP FLAD1 ENST00000315144 human ensembl 69_37n +1 known splice_site c.1+2 e0+2 1.000 - - - no_errors FLAD1 HGNC ENSG00000160688 16 0 0.00 8 9 50.00 - - - FLG 0 genome.wustl.edu 37 1 152285554 152285554 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 152285554 152285554 A C SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.1808 p.V603G 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 267 1 0.37 365 41 10.00 - - - FLG2 0 genome.wustl.edu 37 1 152323138 152323138 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 152323138 152323138 T G SNP FLG2 ENST00000388718 human ensembl 69_37n -1 known missense c.7124 p.H2375P 0.076 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 267 1 0.37 257 55 17.63 - - - FLG2 0 genome.wustl.edu 37 1 152326471 152326471 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 152326471 152326471 A C SNP FLG2 ENST00000388718 human ensembl 69_37n -1 known missense c.3791 p.V1264G 0.000 prints_Filaggrin pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 373 3 0.80 374 47 11.11 - - - FLNA 0 genome.wustl.edu 37 X 153592705 153592705 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 153592705 153592705 A C SNP FLNA ENST00000369850 human ensembl 69_37n -1 known silent c.2058 p.G686 0.714 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 29 0 0.00 24 7 22.58 - - - FLNB 0 genome.wustl.edu 37 3 58084468 58084468 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 58084468 58084468 T G SNP FLNB ENST00000295956 human ensembl 69_37n +1 known missense c.1178 p.V393G 0.999 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 61 0 0.00 53 21 28.38 - - - FLNB 0 genome.wustl.edu 37 3 58135956 58135956 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 58135956 58135956 T G SNP FLNB ENST00000295956 human ensembl 69_37n +1 known splice_site c.6367+2 e38+2 1.000 - - - no_errors FLNB HGNC ENSG00000136068 64 0 0.00 58 14 19.44 - - - FLRT2 0 genome.wustl.edu 37 14 86089115 86089115 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 86089115 86089115 A C SNP FLRT2 ENST00000330753 human ensembl 69_37n +1 known silent c.1257 p.P419 0.897 superfamily_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 180 1 0.55 86 24 21.43 - - - FLT1 0 genome.wustl.edu 37 13 29001326 29001326 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 29001326 29001326 T G SNP FLT1 ENST00000282397 human ensembl 69_37n -1 known missense c.1406 p.H469P 0.617 smart_Ig_sub,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC ENSG00000102755 123 0 0.00 117 31 20.95 - - - FLVCR2 0 genome.wustl.edu 37 14 76088463 76088463 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 76088463 76088463 A C SNP FLVCR2 ENST00000238667 human ensembl 69_37n +1 known silent c.711 p.V237 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom - no_errors FLVCR2 HGNC ENSG00000119686 284 0 0.00 194 27 12.22 - - - FMNL3 0 genome.wustl.edu 37 12 50047536 50047536 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 50047536 50047536 A C SNP FMNL3 ENST00000293590 human ensembl 69_37n -1 known missense c.1193 p.V398G 1.000 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL3 HGNC ENSG00000161791 190 1 0.52 95 26 21.49 - - - FMNL3 0 genome.wustl.edu 37 12 50055831 50055831 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 50055831 50055831 A C SNP FMNL3 ENST00000293590 human ensembl 69_37n -1 known missense c.370 p.W124G 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL3 HGNC ENSG00000161791 180 0 0.00 152 30 16.30 - - - FMNL3 0 genome.wustl.edu 37 12 50059977 50059977 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 50059977 50059977 A C SNP FMNL3 ENST00000293590 human ensembl 69_37n -1 known missense c.224 p.V75G 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL3 HGNC ENSG00000161791 260 0 0.00 176 32 15.38 - - - FN1 0 genome.wustl.edu 37 2 216271893 216271893 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 216271893 216271893 T G SNP FN1 ENST00000354785 human ensembl 69_37n -1 known silent c.2670 p.T890 0.056 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 216 0 0.00 153 21 12.00 - - - FNBP4 0 genome.wustl.edu 37 11 47746098 47746098 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 47746098 47746098 A C SNP FNBP4 ENST00000263773 human ensembl 69_37n -1 known missense c.2241 p.S747R 0.860 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors FNBP4 HGNC ENSG00000109920 196 0 0.00 288 35 10.77 - - - FNBP4 0 genome.wustl.edu 37 11 47754065 47754065 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 47754065 47754065 T G SNP FNBP4 ENST00000527894 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors FNBP4 HGNC ENSG00000109920 123 1 0.80 160 36 18.37 - - - FNDC1 0 genome.wustl.edu 37 6 159646610 159646610 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 159646610 159646610 T G SNP FNDC1 ENST00000297267 human ensembl 69_37n +1 known missense c.928 p.W310G 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 280 2 0.70 204 41 16.73 - - - FOXJ2 0 genome.wustl.edu 37 12 8203186 8203186 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 8203186 8203186 A C SNP FOXJ2 ENST00000162391 human ensembl 69_37n +1 known missense c.1606 p.T536P 0.865 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ2 HGNC ENSG00000065970 241 1 0.41 248 40 13.89 - - - FOXJ3 0 genome.wustl.edu 37 1 42657008 42657008 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 42657008 42657008 T G SNP FOXJ3 ENST00000361346 human ensembl 69_37n -1 known silent c.1317 p.A439 0.997 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ3 HGNC ENSG00000198815 166 0 0.00 118 27 18.49 - - - FOXJ3 0 genome.wustl.edu 37 1 42657155 42657155 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 42657155 42657155 T G SNP FOXJ3 ENST00000361346 human ensembl 69_37n -1 known missense c.1170 p.L390F 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ3 HGNC ENSG00000198815 209 2 0.95 146 27 15.61 - - - FOXJ3 0 genome.wustl.edu 37 1 42660734 42660734 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 42660734 42660734 A C SNP FOXJ3 ENST00000361346 human ensembl 69_37n -1 known missense c.761 p.V254G 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ3 HGNC ENSG00000198815 416 0 0.00 209 26 11.06 - - - FPGS 0 genome.wustl.edu 37 9 130566833 130566833 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 130566833 130566833 T G SNP FPGS ENST00000373247 human ensembl 69_37n +1 known splice_site c.321+2 e3+2 1.000 - - - no_errors FPGS HGNC ENSG00000136877 30 0 0.00 28 5 15.15 - - - FPR1 0 genome.wustl.edu 37 19 52249649 52249649 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 52249649 52249649 A C SNP FPR1 ENST00000304748 human ensembl 69_37n -1 known missense c.599 p.V200G 0.016 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_Anphylx_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR1 HGNC ENSG00000171051 195 1 0.51 203 25 10.96 - - - FPR2 0 genome.wustl.edu 37 19 52272866 52272866 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 52272866 52272866 A C SNP FPR2 ENST00000340023 human ensembl 69_37n +1 known missense c.955 p.T319P 0.023 prints_Frt_met_rcpt,prints_DEZorph_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 139 1 0.71 93 18 16.22 - - - FPR3 0 genome.wustl.edu 37 19 52327150 52327150 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 52327150 52327150 T G SNP FPR3 ENST00000339223 human ensembl 69_37n +1 known missense c.149 p.V50G 1.000 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors FPR3 HGNC ENSG00000187474 289 1 0.34 233 28 10.73 - - - FRAS1 0 genome.wustl.edu 37 4 79173629 79173629 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 79173629 79173629 A C SNP FRAS1 ENST00000502446 human ensembl 69_37n +1 putative missense c.179 p.H60P 0.024 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,superfamily_Growth_fac_rcpt,smart_VWF_C,smart_VWC_out,smart_Furin_repeat,pfscan_VWF_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FRAS1 HGNC ENSG00000138759 123 1 0.81 58 21 26.58 - - - FRAS1 0 genome.wustl.edu 37 4 79343117 79343117 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 79343117 79343117 A C SNP FRAS1 ENST00000264895 human ensembl 69_37n +1 known silent c.4641 p.A1547 0.138 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 279 0 0.00 220 39 15.06 - - - FRAS1 0 genome.wustl.edu 37 4 79403039 79403039 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 79403039 79403039 A C SNP FRAS1 ENST00000264895 human ensembl 69_37n +1 known missense c.8525 p.D2842A 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 283 1 0.35 221 28 11.16 - - - FRAS1 0 genome.wustl.edu 37 4 79462124 79462124 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 79462124 79462124 T G SNP FRAS1 ENST00000264895 human ensembl 69_37n +1 known missense c.11885 p.V3962G 0.998 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 86 0 0.00 62 15 19.48 - - - FREM1 0 genome.wustl.edu 37 9 14775942 14775942 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 14775942 14775942 T G SNP FREM1 ENST00000380881 human ensembl 69_37n -1 known missense c.4705 p.T1569P 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 204 0 0.00 186 32 14.61 - - - FRK 0 genome.wustl.edu 37 6 116381277 116381277 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 116381277 116381277 A C SNP FRK ENST00000368626 human ensembl 69_37n -1 known silent c.198 p.G66 0.964 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors FRK HGNC ENSG00000111816 297 0 0.00 275 42 13.21 - - - FRMD6 0 genome.wustl.edu 37 14 52194586 52194586 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 52194586 52194586 A C SNP FRMD6 ENST00000344768 human ensembl 69_37n +1 known missense c.1708 p.T570P 1.000 NULL pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 97 0 0.00 94 18 16.07 - - - FRMPD2 0 genome.wustl.edu 37 10 49389050 49389050 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 49389050 49389050 A C SNP FRMPD2 ENST00000374201 human ensembl 69_37n -1 known silent c.2586 p.G862 0.773 superfamily_PDZ pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 40 0 0.00 34 9 20.93 - - - FRMPD3 0 genome.wustl.edu 37 X 106844936 106844936 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 106844936 106844936 A C SNP FRMPD3 ENST00000276185 human ensembl 69_37n +1 known missense c.3766 p.T1256P 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 100 1 0.99 42 8 15.69 - - - FRMPD4 0 genome.wustl.edu 37 X 12627996 12627996 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 12627996 12627996 A C SNP FRMPD4 ENST00000380682 human ensembl 69_37n +1 known silent c.315 p.T105 0.998 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 99 1 1.00 73 20 21.51 - - - FRMPD4 0 genome.wustl.edu 37 X 12734317 12734317 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 12734317 12734317 T G SNP FRMPD4 ENST00000380682 human ensembl 69_37n +1 known missense c.1739 p.V580G 0.152 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 300 0 0.00 240 27 10.11 - - - FRMPD4 0 genome.wustl.edu 37 X 12735141 12735141 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 12735141 12735141 A C SNP FRMPD4 ENST00000380682 human ensembl 69_37n +1 known missense c.2563 p.T855P 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 167 1 0.60 177 29 14.08 - - - FSHR 0 genome.wustl.edu 37 2 49190419 49190419 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 49190419 49190419 A C SNP FSHR ENST00000406846 human ensembl 69_37n -1 known missense c.1541 p.V514G 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_supfam,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 134 1 0.74 65 11 14.47 - - - FTSJ3 0 genome.wustl.edu 37 17 61897288 61897288 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 61897288 61897288 A C SNP FTSJ3 ENST00000427159 human ensembl 69_37n -1 known silent c.2418 p.G806 0.994 pfam_rRNA_MeTfrase_Spb1_C pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 295 1 0.34 295 51 14.66 - - - FUT1 0 genome.wustl.edu 37 19 49253970 49253970 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 49253970 49253970 T G SNP FUT1 ENST00000310160 human ensembl 69_37n -1 known missense c.569 p.H190P 0.290 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 55 0 0.00 46 13 21.67 - - - FUT8 0 genome.wustl.edu 37 14 66188494 66188494 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 66188494 66188494 T G SNP FUT8 ENST00000360689 human ensembl 69_37n +1 known silent c.837 p.G279 1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 161 0 0.00 76 20 20.83 - - - G3BP1 0 genome.wustl.edu 37 5 151179830 151179830 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 151179830 151179830 A C SNP G3BP1 ENST00000356245 human ensembl 69_37n +1 known missense c.1007 p.H336P 1.000 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 198 0 0.00 212 32 13.06 - - - GAB1 0 genome.wustl.edu 37 4 144361462 144361462 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 144361462 144361462 T C SNP GAB1 ENST00000262995 human ensembl 69_37n +1 known silent c.1512 p.P504 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC ENSG00000109458 212 1 0.46 180 27 12.92 - - - GAB2 0 genome.wustl.edu 37 11 77937662 77937662 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 77937662 77937662 T G SNP GAB2 ENST00000361507 human ensembl 69_37n -1 known silent c.1056 p.P352 0.999 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 52 0 0.00 305 58 15.89 - - - GABRE 0 genome.wustl.edu 37 X 151124004 151124004 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 151124004 151124004 T G SNP GABRE ENST00000370328 human ensembl 69_37n -1 known missense c.973 p.T325P 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 198 1 0.50 223 30 11.81 - - - GABRQ 0 genome.wustl.edu 37 X 151808886 151808886 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 151808886 151808886 T G SNP GABRQ ENST00000370306 human ensembl 69_37n +1 known missense c.197 p.V66G 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 201 1 0.50 111 14 11.20 - - - GABRR1 0 genome.wustl.edu 37 6 89907847 89907847 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 89907847 89907847 A C SNP GABRR1 ENST00000454853 human ensembl 69_37n -1 known missense c.464 p.V155G 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC ENSG00000146276 446 2 0.45 250 30 10.56 - - - GAGE2C 0 genome.wustl.edu 37 X 49230849 49230849 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 49230849 49230849 T G SNP GAGE2C ENST00000381708 human ensembl 69_37n +1 known missense c.253 p.C85G 0.000 pfam_GAGE pfam_GAGE - no_errors GAGE2C HGNC ENSG00000236249 324 1 0.31 297 103 25.75 - - - GALC 0 genome.wustl.edu 37 14 88407818 88407818 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 88407818 88407818 A C SNP GALC ENST00000261304 human ensembl 69_37n -1 known silent c.1755 p.G585 0.970 pfam_Glyco_hydro_59,prints_Glyco_hydro_59 pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_59 - no_errors GALC HGNC ENSG00000054983 486 0 0.00 378 50 11.68 - - - GALNT10 0 genome.wustl.edu 37 5 153796449 153796449 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 153796449 153796449 A C SNP GALNT10 ENST00000297107 human ensembl 69_37n +1 known missense c.1729 p.T577P 0.999 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 118 1 0.84 90 20 18.18 - - - GALNT14 0 genome.wustl.edu 37 2 31165080 31165080 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 31165080 31165080 A C SNP GALNT14 ENST00000349752 human ensembl 69_37n -1 known silent c.918 p.G306 0.336 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 131 1 0.76 91 17 15.74 - - - GALNT4 0 genome.wustl.edu 37 12 89917263 89917263 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 89917263 89917263 T G SNP GALNT4 ENST00000529983 human ensembl 69_37n -1 known missense c.1064 p.H355P 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT4 HGNC ENSG00000257594 151 1 0.66 95 22 18.49 - - - GALNTL1 0 genome.wustl.edu 37 14 69791485 69791485 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 69791485 69791485 A C SNP GALNTL1 ENST00000337827 human ensembl 69_37n +1 known missense c.412 p.T138P 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL1 HGNC ENSG00000100626 30 0 0.00 15 10 40.00 - - - GANAB 0 genome.wustl.edu 37 11 62393587 62393587 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62393587 62393587 A C SNP GANAB ENST00000346178 human ensembl 69_37n -1 known missense c.2741 p.V914G 0.997 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANAB HGNC ENSG00000089597 374 2 0.53 304 58 15.89 - - - GANC 0 genome.wustl.edu 37 15 42631936 42631936 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 42631936 42631936 A C SNP GANC ENST00000318010 human ensembl 69_37n +1 known missense c.1913 p.Y638S 1.000 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 183 1 0.54 118 23 16.20 - - - GANC 0 genome.wustl.edu 37 15 42631962 42631962 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 42631962 42631962 A C SNP GANC ENST00000318010 human ensembl 69_37n +1 known missense c.1939 p.T647P 0.125 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 174 0 0.00 125 17 11.89 - - - GARNL3 0 genome.wustl.edu 37 9 130117695 130117695 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 130117695 130117695 A C SNP GARNL3 ENST00000373387 human ensembl 69_37n +1 known missense c.1879 p.T627P 0.000 pfam_Citron,smart_Citron pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP - no_errors GARNL3 HGNC ENSG00000136895 370 1 0.27 324 39 10.71 - - - GBA 0 genome.wustl.edu 37 1 155209826 155209826 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 155209826 155209826 A C SNP GBA ENST00000327247 human ensembl 69_37n -1 known missense c.158 p.V53G 1.000 pfam_Glyco_hydro_30,prints_Glyco_hydro_30 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 46 0 0.00 60 15 19.74 - - - GBA2 0 genome.wustl.edu 37 9 35738184 35738184 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 35738184 35738184 T G SNP GBA2 ENST00000378088 human ensembl 69_37n -1 known silent c.66 p.T22 0.000 NULL pfam_Glucosylceramidase - no_errors GBA2 HGNC ENSG00000070610 182 1 0.55 117 19 13.97 - - - GBF1 0 genome.wustl.edu 37 10 104117888 104117888 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 104117888 104117888 A C SNP GBF1 ENST00000369983 human ensembl 69_37n +1 known silent c.732 p.T244 0.118 superfamily_ARM-type_fold pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC ENSG00000107862 336 1 0.30 398 46 10.34 - - - GBP2 0 genome.wustl.edu 37 1 89586870 89586870 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 89586870 89586870 T G SNP GBP2 ENST00000370466 human ensembl 69_37n -1 known missense c.274 p.T92P 0.230 pfam_Guanylate-bd_N pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP2 HGNC ENSG00000162645 315 2 0.62 215 54 20.07 - - - GBP4 0 genome.wustl.edu 37 1 89652748 89652748 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 89652748 89652748 A C SNP GBP4 ENST00000355754 human ensembl 69_37n -1 known missense c.1448 p.V483G 0.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP4 HGNC ENSG00000162654 188 1 0.53 180 32 14.95 - - - GBP6 0 genome.wustl.edu 37 1 89843750 89843750 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 89843750 89843750 A C SNP GBP6 ENST00000370456 human ensembl 69_37n +1 known missense c.407 p.H136P 1.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP6 HGNC ENSG00000183347 148 0 0.00 128 26 16.77 - - - GBP7 0 genome.wustl.edu 37 1 89615102 89615102 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 89615102 89615102 A C SNP GBP7 ENST00000294671 human ensembl 69_37n -1 known missense c.1025 p.V342G 0.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP7 HGNC ENSG00000213512 167 1 0.59 119 14 10.45 - - - GCKR 0 genome.wustl.edu 37 2 27730560 27730560 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 27730560 27730560 A C SNP GCKR ENST00000264717 human ensembl 69_37n +1 known missense c.1156 p.T386P 0.996 NULL NULL - no_errors GCKR HGNC ENSG00000084734 81 0 0.00 72 14 16.09 - - - GCLC 0 genome.wustl.edu 37 6 53365147 53365147 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 53365147 53365147 A C SNP GCLC ENST00000229416 human ensembl 69_37n -1 known silent c.1479 p.G493 1.000 pfam_GCS pfam_GCS - no_errors GCLC HGNC ENSG00000001084 226 1 0.44 154 29 15.85 - - - GCM2 0 genome.wustl.edu 37 6 10874881 10874881 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 10874881 10874881 T G SNP GCM2 ENST00000379491 human ensembl 69_37n -1 known missense c.868 p.T290P 0.052 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 241 0 0.00 237 33 12.13 - - - GCNT2 0 genome.wustl.edu 37 6 10529558 10529558 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 10529558 10529558 T G SNP GCNT2 ENST00000379597 human ensembl 69_37n +1 known silent c.414 p.G138 0.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 174 0 0.00 157 20 11.30 - - - GEMIN2 0 genome.wustl.edu 37 14 39603110 39603110 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 39603110 39603110 A C SNP GEMIN2 ENST00000524781 human ensembl 69_37n +1 putative rna NULL NULL 0.028 - - - no_errors GEMIN2 HGNC ENSG00000092208 52 0 0.00 36 15 29.41 - - - GEMIN5 0 genome.wustl.edu 37 5 154304056 154304056 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 154304056 154304056 A C SNP GEMIN5 ENST00000285873 human ensembl 69_37n -1 known missense c.1352 p.V451G 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 187 0 0.00 197 28 12.39 - - - GFAP 0 genome.wustl.edu 37 17 42991133 42991133 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 42991133 42991133 T C SNP GFAP ENST00000253408 human ensembl 69_37n -1 known missense c.581 p.E194G 1.000 pfam_F pfam_F - no_errors GFAP HGNC ENSG00000131095 192 0 0.00 125 16 11.35 - - - GGA2 0 genome.wustl.edu 37 16 23478980 23478980 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 23478980 23478980 A C SNP GGA2 ENST00000309859 human ensembl 69_37n -1 known silent c.1773 p.G591 0.659 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA2 HGNC ENSG00000103365 44 0 0.00 43 7 14.00 - - - GGCX 0 genome.wustl.edu 37 2 85778170 85778170 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 85778170 85778170 A C SNP GGCX ENST00000233838 human ensembl 69_37n -1 known missense c.1766 p.V589G 1.000 superfamily_RmlC_Cupin pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC ENSG00000115486 181 0 0.00 180 31 14.62 - - - GGCX 0 genome.wustl.edu 37 2 85780141 85780141 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 85780141 85780141 A C SNP GGCX ENST00000233838 human ensembl 69_37n -1 known missense c.1208 p.V403G 1.000 pfam_VKG_COase pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC ENSG00000115486 151 0 0.00 130 18 12.16 - - - GGT5 0 genome.wustl.edu 37 22 24622675 24622675 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 24622675 24622675 T G SNP GGT5 ENST00000398292 human ensembl 69_37n -1 known missense c.962 p.H321P 0.966 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT5 HGNC ENSG00000099998 56 0 0.00 26 12 31.58 - - - GIGYF2 0 genome.wustl.edu 37 2 233659531 233659531 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 233659531 233659531 A C SNP GIGYF2 ENST00000373566 human ensembl 69_37n +1 known silent c.1422 p.P474 0.981 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 741 4 0.53 647 126 16.24 - - - GJB7 0 genome.wustl.edu 37 6 87994373 87994373 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 87994373 87994373 T G SNP GJB7 ENST00000296882 human ensembl 69_37n -1 known silent c.258 p.T86 0.050 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB7 HGNC ENSG00000164411 398 0 0.00 325 37 10.22 - - - GK2 0 genome.wustl.edu 37 4 80329197 80329197 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 80329197 80329197 A C SNP GK2 ENST00000358842 human ensembl 69_37n -1 known missense c.158 p.V53G 1.000 pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 232 0 0.00 199 34 14.53 - - - GLCCI1 0 genome.wustl.edu 37 7 8099741 8099741 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 8099741 8099741 T G SNP GLCCI1 ENST00000430798 human ensembl 69_37n +1 putative splice_site c.491+2 e5+2 1.000 - - - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region GLCCI1 HGNC ENSG00000106415 221 0 0.00 141 22 13.41 - - - GLCCI1 0 genome.wustl.edu 37 7 8126052 8126052 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 8126052 8126052 A C SNP GLCCI1 ENST00000223145 human ensembl 69_37n +1 known missense c.1528 p.T510P 1.000 NULL NULL - no_errors GLCCI1 HGNC ENSG00000106415 311 3 0.95 281 42 12.96 - - - GLDC 0 genome.wustl.edu 37 9 6605174 6605174 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 6605174 6605174 A C SNP GLDC ENST00000321612 human ensembl 69_37n -1 known missense c.818 p.V273G 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 114 1 0.87 90 23 20.35 - - - GLI1 0 genome.wustl.edu 37 12 57857868 57857868 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 57857868 57857868 A C SNP GLI1 ENST00000228682 human ensembl 69_37n +1 known missense c.187 p.T63P 0.979 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 157 0 0.00 97 30 23.62 - - - GLI1 0 genome.wustl.edu 37 12 57864698 57864698 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 57864698 57864698 A C SNP GLI1 ENST00000228682 human ensembl 69_37n +1 known silent c.2175 p.P725 0.748 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 48 0 0.00 40 13 24.07 - - - GLIPR1 0 genome.wustl.edu 37 12 75875708 75875708 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 75875708 75875708 A C SNP GLIPR1 ENST00000266659 human ensembl 69_37n +1 known missense c.269 p.H90P 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1 HGNC ENSG00000139278 328 0 0.00 248 33 11.74 - - - GLOD4 0 genome.wustl.edu 37 17 673713 673713 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 673713 673713 A C SNP GLOD4 ENST00000301328 human ensembl 69_37n -1 known missense c.623 p.V208G 1.000 NULL NULL - no_errors GLOD4 HGNC ENSG00000167699 892 8 0.89 572 127 18.14 - - - GLOD4 0 genome.wustl.edu 37 17 673718 673718 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 673718 673718 A C SNP GLOD4 ENST00000575528 human ensembl 69_37n -1 known missense c.85 p.W29G 0.030 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GLOD4 HGNC ENSG00000167699 882 6 0.67 538 164 23.30 - - - GLOD5 0 genome.wustl.edu 37 X 48631920 48631920 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 48631920 48631920 A C SNP GLOD5 ENST00000470676 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors GLOD5 HGNC ENSG00000171433 113 1 0.88 120 42 25.61 - - - GLYAT 0 genome.wustl.edu 37 11 58477514 58477514 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 58477514 58477514 T G SNP GLYAT ENST00000344743 human ensembl 69_37n -1 known missense c.616 p.T206P 0.023 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYAT HGNC ENSG00000149124 95 0 0.00 82 22 21.15 - - - GLYATL1 0 genome.wustl.edu 37 11 58722668 58722668 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 58722668 58722668 T G SNP GLYATL1 ENST00000300079 human ensembl 69_37n +1 known silent c.426 p.G142 0.002 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL1 HGNC ENSG00000166840 266 0 0.00 132 19 12.42 - - - GNL3L 0 genome.wustl.edu 37 X 54578329 54578329 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 54578329 54578329 A C SNP GNL3L ENST00000336470 human ensembl 69_37n +1 known missense c.1103 p.H368P 0.997 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 208 0 0.00 253 30 10.53 - - - GOLGA4 0 genome.wustl.edu 37 3 37368276 37368276 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 37368276 37368276 T G SNP GOLGA4 ENST00000361924 human ensembl 69_37n +1 known missense c.4899 p.S1633R 0.974 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 350 0 0.00 344 45 11.57 - - - GOLGA6D 0 genome.wustl.edu 37 15 75580504 75580504 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 75580504 75580504 T G SNP GOLGA6D ENST00000434739 human ensembl 69_37n +1 known splice_site c.457+2 e6+2 0.999 - - - no_errors GOLGA6D HGNC ENSG00000140478 15 0 0.00 10 8 44.44 - - - GOLGB1 0 genome.wustl.edu 37 3 121410178 121410178 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 121410178 121410178 A C SNP GOLGB1 ENST00000340645 human ensembl 69_37n -1 known missense c.8018 p.V2673G 0.958 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 573 2 0.35 291 38 11.48 - - - GOLGB1 0 genome.wustl.edu 37 3 121413970 121413970 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 121413970 121413970 A C SNP GOLGB1 ENST00000340645 human ensembl 69_37n -1 known silent c.5385 p.G1795 0.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 425 3 0.70 339 38 10.05 - - - GOLIM4 0 genome.wustl.edu 37 3 167742833 167742833 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 167742833 167742833 A C SNP GOLIM4 ENST00000470487 human ensembl 69_37n -1 known silent c.1674 p.G558 0.217 NULL NULL - no_errors GOLIM4 HGNC ENSG00000173905 274 0 0.00 245 48 16.27 - - - GORAB 0 genome.wustl.edu 37 1 170521353 170521353 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 170521353 170521353 T G SNP GORAB ENST00000367763 human ensembl 69_37n +1 known missense c.935 p.V312G 0.945 NULL pfam_Golgin_RAB6-interacting - no_errors GORAB HGNC ENSG00000120370 161 0 0.00 207 29 12.18 - - - GORASP2 0 genome.wustl.edu 37 2 171818231 171818231 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 171818231 171818231 A C SNP GORASP2 ENST00000452526 human ensembl 69_37n +1 known silent c.918 p.P306 0.996 pfam_GRASP55/65_PDZ pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP2 HGNC ENSG00000115806 219 1 0.45 232 26 10.04 - - - GP2 0 genome.wustl.edu 37 16 20335299 20335299 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 20335299 20335299 T G SNP GP2 ENST00000381362 human ensembl 69_37n -1 known missense c.374 p.H125P 1.000 NULL pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors GP2 HGNC ENSG00000169347 94 0 0.00 68 20 22.47 - - - GP5 0 genome.wustl.edu 37 3 194118254 194118254 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 194118254 194118254 T G SNP GP5 ENST00000323007 human ensembl 69_37n -1 known missense c.758 p.H253P 0.011 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 92 0 0.00 46 16 25.00 - - - GPA33 0 genome.wustl.edu 37 1 167059520 167059520 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 167059520 167059520 A C SNP GPA33 ENST00000367868 human ensembl 69_37n -1 known missense c.5 p.V2G 0.035 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors GPA33 HGNC ENSG00000143167 97 0 0.00 126 25 16.34 - - - GPATCH3 0 genome.wustl.edu 37 1 27223829 27223829 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 27223829 27223829 A C SNP GPATCH3 ENST00000361720 human ensembl 69_37n -1 known missense c.839 p.V280G 0.001 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 128 1 0.78 223 36 13.90 - - - GPD2 0 genome.wustl.edu 37 2 157368742 157368742 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 157368742 157368742 T G SNP GPD2 ENST00000310454 human ensembl 69_37n +1 known missense c.410 p.V137G 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_Ca-bd,prints_G3P_DH_FAD-dep,pfscan_EF_HAND_2 - no_errors GPD2 HGNC ENSG00000115159 255 0 0.00 155 34 17.99 - - - GPD2 0 genome.wustl.edu 37 2 157426677 157426677 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 157426677 157426677 T G SNP GPD2 ENST00000310454 human ensembl 69_37n +1 known missense c.1555 p.W519G 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_Ca-bd,prints_G3P_DH_FAD-dep,pfscan_EF_HAND_2 - no_errors GPD2 HGNC ENSG00000115159 133 1 0.75 140 41 22.53 - - - GPN1 0 genome.wustl.edu 37 2 27862911 27862911 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 27862911 27862911 T G SNP GPN1 ENST00000264718 human ensembl 69_37n +1 known missense c.761 p.V254G 1.000 pfam_Uncharacterised_ATP-bd,pfam_ProtSyn_GTP-bd pfam_Uncharacterised_ATP-bd,pfam_ProtSyn_GTP-bd,smart_AAA+_ATPase - no_errors GPN1 HGNC ENSG00000198522 402 0 0.00 279 73 20.62 - - - GPNMB 0 genome.wustl.edu 37 7 23296637 23296637 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 23296637 23296637 A C SNP GPNMB ENST00000381990 human ensembl 69_37n +1 known missense c.494 p.H165P 0.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 124 1 0.80 134 23 14.65 - - - GPR110 0 genome.wustl.edu 37 6 46993706 46993706 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 46993706 46993706 A C SNP GPR110 ENST00000371253 human ensembl 69_37n -1 known missense c.161 p.V54G 0.635 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 202 0 0.00 133 22 14.19 - - - GPR111 0 genome.wustl.edu 37 6 47649836 47649836 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 47649836 47649836 A C SNP GPR111 ENST00000296862 human ensembl 69_37n +1 known missense c.1541 p.H514P 0.350 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR111 HGNC ENSG00000164393 165 1 0.60 100 24 19.05 - - - GPR112 0 genome.wustl.edu 37 X 135427230 135427230 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135427230 135427230 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known silent c.1365 p.S455 0.020 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 710 2 0.28 581 82 12.37 - - - GPR112 0 genome.wustl.edu 37 X 135427269 135427269 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135427269 135427269 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known silent c.1404 p.P468 0.002 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 705 3 0.42 557 111 16.52 - - - GPR112 0 genome.wustl.edu 37 X 135428005 135428005 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135428005 135428005 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.2140 p.T714P 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 676 4 0.59 553 80 12.64 - - - GPR112 0 genome.wustl.edu 37 X 135428008 135428008 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135428008 135428008 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.2143 p.T715P 0.001 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 701 3 0.43 565 75 11.72 - - - GPR112 0 genome.wustl.edu 37 X 135428064 135428064 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135428064 135428064 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known silent c.2199 p.S733 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 661 0 0.00 511 67 11.53 - - - GPR112 0 genome.wustl.edu 37 X 135428447 135428447 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135428447 135428447 T G SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.2582 p.V861G 0.078 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 1228 4 0.32 978 126 11.40 - - - GPR112 0 genome.wustl.edu 37 X 135429060 135429060 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135429060 135429060 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known silent c.3195 p.P1065 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 1196 6 0.50 935 199 17.49 - - - GPR112 0 genome.wustl.edu 37 X 135429244 135429244 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135429244 135429244 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.3379 p.T1127P 0.021 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 994 4 0.40 805 106 11.60 - - - GPR112 0 genome.wustl.edu 37 X 135429256 135429256 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135429256 135429256 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.3391 p.T1131P 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 993 5 0.50 811 92 10.15 - - - GPR112 0 genome.wustl.edu 37 X 135429616 135429616 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135429616 135429616 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.3751 p.T1251P 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 671 1 0.15 543 73 11.83 - - - GPR112 0 genome.wustl.edu 37 X 135430584 135430584 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135430584 135430584 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known silent c.4719 p.T1573 0.008 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 515 0 0.00 343 72 17.35 - - - GPR112 0 genome.wustl.edu 37 X 135430846 135430846 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135430846 135430846 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.4981 p.T1661P 0.008 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 661 1 0.15 442 70 13.65 - - - GPR112 0 genome.wustl.edu 37 X 135430956 135430956 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135430956 135430956 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known silent c.5091 p.S1697 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 601 1 0.17 413 47 10.17 - - - GPR112 0 genome.wustl.edu 37 X 135431311 135431311 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135431311 135431311 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.5446 p.T1816P 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 503 2 0.40 322 73 18.48 - - - GPR112 0 genome.wustl.edu 37 X 135431382 135431382 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135431382 135431382 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known silent c.5517 p.S1839 0.019 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 456 0 0.00 299 44 12.83 - - - GPR112 0 genome.wustl.edu 37 X 135431603 135431603 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135431603 135431603 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.5738 p.H1913P 0.001 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 430 3 0.69 265 54 16.93 - - - GPR112 0 genome.wustl.edu 37 X 135431877 135431877 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135431877 135431877 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known silent c.6012 p.S2004 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 334 0 0.00 226 43 15.99 - - - GPR112 0 genome.wustl.edu 37 X 135432070 135432070 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135432070 135432070 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.6205 p.T2069P 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 351 2 0.56 194 45 18.75 - - - GPR112 0 genome.wustl.edu 37 X 135432261 135432261 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135432261 135432261 A C SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known silent c.6396 p.S2132 0.001 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 266 1 0.37 159 21 11.48 - - - GPR119 0 genome.wustl.edu 37 X 129519124 129519124 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 129519124 129519124 T G SNP GPR119 ENST00000276218 human ensembl 69_37n -1 known missense c.298 p.T100P 0.992 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR119 HGNC ENSG00000147262 200 0 0.00 229 28 10.85 - - - GPR125 0 genome.wustl.edu 37 4 22389592 22389592 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 22389592 22389592 T G SNP GPR125 ENST00000334304 human ensembl 69_37n -1 known silent c.3702 p.P1234 0.768 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC ENSG00000152990 215 0 0.00 200 31 13.30 - - - GPR125 0 genome.wustl.edu 37 4 22425848 22425848 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 22425848 22425848 T G SNP GPR125 ENST00000334304 human ensembl 69_37n -1 known missense c.1571 p.Y524S 0.996 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC ENSG00000152990 156 1 0.63 136 38 21.84 - - - GPR125 0 genome.wustl.edu 37 4 22425852 22425852 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 22425852 22425852 T G SNP GPR125 ENST00000334304 human ensembl 69_37n -1 known missense c.1567 p.T523P 0.007 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC ENSG00000152990 159 1 0.62 129 38 22.75 - - - GPR125 0 genome.wustl.edu 37 4 22446697 22446697 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 22446697 22446697 A C SNP GPR125 ENST00000334304 human ensembl 69_37n -1 known missense c.605 p.V202G 0.998 smart_Cys-rich_flank_reg_C pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC ENSG00000152990 92 0 0.00 76 19 19.79 - - - GPR128 0 genome.wustl.edu 37 3 100378562 100378562 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 100378562 100378562 T G SNP GPR128 ENST00000273352 human ensembl 69_37n +1 known silent c.1854 p.G618 0.001 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC ENSG00000144820 142 1 0.70 108 18 14.17 - - - GPR141 0 genome.wustl.edu 37 7 37780046 37780046 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 37780046 37780046 A C SNP GPR141 ENST00000334425 human ensembl 69_37n +1 known silent c.51 p.T17 0.000 NULL pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR141 HGNC ENSG00000187037 428 3 0.70 289 51 15.00 - - - GPR141 0 genome.wustl.edu 37 7 37780051 37780051 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 37780051 37780051 A C SNP GPR141 ENST00000334425 human ensembl 69_37n +1 known missense c.56 p.H19P 0.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR141 HGNC ENSG00000187037 425 0 0.00 303 35 10.23 - - - GPR149 0 genome.wustl.edu 37 3 154055985 154055985 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 154055985 154055985 T G SNP GPR149 ENST00000389740 human ensembl 69_37n -1 known missense c.1699 p.T567P 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR149 HGNC ENSG00000174948 180 1 0.55 187 21 10.10 - - - GPR160 0 genome.wustl.edu 37 3 169801816 169801816 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 169801816 169801816 A C SNP GPR160 ENST00000355897 human ensembl 69_37n +1 known missense c.56 p.N19T 0.000 NULL pfscan_GPCR_Rhodpsn_supfam - no_errors GPR160 HGNC ENSG00000173890 165 0 0.00 111 26 18.98 - - - GPR176 0 genome.wustl.edu 37 15 40093343 40093343 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 40093343 40093343 A C SNP GPR176 ENST00000561100 human ensembl 69_37n -1 known missense c.1538 p.V513G 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR176 HGNC ENSG00000166073 117 1 0.85 86 10 10.42 - - - GPR21 0 genome.wustl.edu 37 9 125797419 125797419 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 125797419 125797419 A C SNP GPR21 ENST00000373642 human ensembl 69_37n +1 known missense c.574 p.T192P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR21 HGNC ENSG00000188394 222 0 0.00 152 28 15.38 - - - GPR45 0 genome.wustl.edu 37 2 105859234 105859234 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 105859234 105859234 A C SNP GPR45 ENST00000258456 human ensembl 69_37n +1 known missense c.919 p.T307P 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR45 HGNC ENSG00000135973 194 0 0.00 94 20 17.54 - - - GPR50 0 genome.wustl.edu 37 X 150349821 150349821 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 150349821 150349821 A C SNP GPR50 ENST00000218316 human ensembl 69_37n +1 known missense c.1766 p.D589A 0.012 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mel_rcpt_1X,prints_7TM_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 226 1 0.44 184 29 13.55 - - - GPR83 0 genome.wustl.edu 37 11 94113575 94113575 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 94113575 94113575 T G SNP GPR83 ENST00000243673 human ensembl 69_37n -1 known missense c.1012 p.T338P 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GPR83 HGNC ENSG00000123901 179 0 0.00 116 17 12.69 - - - GPR85 0 genome.wustl.edu 37 7 112724260 112724260 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 112724260 112724260 T G SNP GPR85 ENST00000297146 human ensembl 69_37n -1 known missense c.517 p.T173P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR85 HGNC ENSG00000164604 160 1 0.62 76 19 20.00 - - - GPR98 0 genome.wustl.edu 37 5 89943343 89943343 + Nonstop_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 89943343 89943343 T G SNP GPR98 ENST00000504142 human ensembl 69_37n +1 putative nonstop c.1816 p.*606G 0.032 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_ConA-like_lec_gl,smart_Calx_beta - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GPR98 HGNC ENSG00000164199 171 1 0.57 102 24 18.90 - - - GRB14 0 genome.wustl.edu 37 2 165349619 165349619 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 165349619 165349619 A C SNP GRB14 ENST00000263915 human ensembl 69_37n -1 known missense c.1550 p.V517G 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 122 1 0.81 72 16 18.18 - - - GRB14 0 genome.wustl.edu 37 2 165353599 165353599 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 165353599 165353599 T G SNP GRB14 ENST00000263915 human ensembl 69_37n -1 known missense c.1301 p.H434P 0.999 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 128 0 0.00 58 15 20.55 - - - GRHPR 0 genome.wustl.edu 37 9 37429673 37429673 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 37429673 37429673 T G SNP GRHPR ENST00000494290 human ensembl 69_37n +1 known silent c.9 p.G3 0.000 NULL pfam_D-isomer_2_OHA_DH_NAD-bd - no_errors GRHPR HGNC ENSG00000137106 46 0 0.00 27 10 27.03 - - - GRIA4 0 genome.wustl.edu 37 11 105623816 105623816 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 105623816 105623816 A C SNP GRIA4 ENST00000282499 human ensembl 69_37n +1 known silent c.357 p.T119 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 167 0 0.00 122 18 12.77 - - - GRIN3A 0 genome.wustl.edu 37 9 104449272 104449272 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 104449272 104449272 T G SNP GRIN3A ENST00000361820 human ensembl 69_37n -1 known missense c.910 p.T304P 0.993 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 162 0 0.00 152 33 17.84 - - - GRIP1 0 genome.wustl.edu 37 12 66839143 66839143 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 66839143 66839143 T G SNP GRIP1 ENST00000538164 human ensembl 69_37n -1 novel missense c.944 p.H315P 0.982 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GRIP1 HGNC ENSG00000155974 146 0 0.00 116 23 16.55 - - - GRM2 0 genome.wustl.edu 37 3 51752140 51752140 + RNA SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 51752140 51752140 T C SNP GRM2 ENST00000475478 human ensembl 69_37n +1 known rna NULL NULL 0.117 - - - no_errors GRM2 HGNC ENSG00000164082 116 1 0.85 180 33 15.42 - - - GRM3 0 genome.wustl.edu 37 7 86468741 86468741 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 86468741 86468741 A C SNP GRM3 ENST00000361669 human ensembl 69_37n +1 known silent c.1911 p.S637 0.017 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C - no_errors GRM3 HGNC ENSG00000198822 194 1 0.51 162 23 12.37 - - - GRM8 0 genome.wustl.edu 37 7 126173510 126173510 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 126173510 126173510 T G SNP GRM8 ENST00000339582 human ensembl 69_37n -1 known silent c.1926 p.A642 0.999 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC ENSG00000179603 119 0 0.00 114 13 10.24 - - - GRP 0 genome.wustl.edu 37 18 56892813 56892813 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 56892813 56892813 T G SNP GRP ENST00000256857 human ensembl 69_37n +1 known missense c.229 p.W77G 0.974 NULL pfam_Bombesin - no_errors GRP HGNC ENSG00000134443 265 2 0.75 189 27 12.44 - - - GRPEL1 0 genome.wustl.edu 37 4 7062611 7062611 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 7062611 7062611 A C SNP GRPEL1 ENST00000264954 human ensembl 69_37n -1 known missense c.632 p.V211G 1.000 pfam_GrpE,superfamily_GrpE_head,prints_GrpE pfam_GrpE,superfamily_GrpE_head,prints_GrpE - no_errors GRPEL1 HGNC ENSG00000109519 136 1 0.72 180 20 10.00 - - - GRPEL1 0 genome.wustl.edu 37 4 7064132 7064132 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 7064132 7064132 A C SNP GRPEL1 ENST00000264954 human ensembl 69_37n -1 known missense c.287 p.V96G 1.000 pfam_GrpE pfam_GrpE,superfamily_GrpE_head,prints_GrpE - no_errors GRPEL1 HGNC ENSG00000109519 58 0 0.00 82 26 24.07 - - - GRPR 0 genome.wustl.edu 37 X 16142183 16142183 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 16142183 16142183 A C SNP GRPR ENST00000380289 human ensembl 69_37n +1 known missense c.107 p.H36P 0.999 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 401 3 0.74 340 63 15.63 - - - GRPR 0 genome.wustl.edu 37 X 16170721 16170721 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 16170721 16170721 A C SNP GRPR ENST00000380289 human ensembl 69_37n +1 known missense c.1108 p.T370P 1.000 prints_Gastrin_pep_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 316 2 0.63 238 50 17.36 - - - GSDMC 0 genome.wustl.edu 37 8 130762327 130762327 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 130762327 130762327 A C SNP GSDMC ENST00000276708 human ensembl 69_37n -1 known silent c.1122 p.G374 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 70 0 0.00 52 14 21.21 - - - GSDMC 0 genome.wustl.edu 37 8 130774949 130774949 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 130774949 130774949 A C SNP GSDMC ENST00000276708 human ensembl 69_37n -1 known missense c.599 p.V200G 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 423 0 0.00 407 57 12.21 - - - GSG2 0 genome.wustl.edu 37 17 3629294 3629294 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 3629294 3629294 A C SNP GSG2 ENST00000325418 human ensembl 69_37n +1 known missense c.2065 p.T689P 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_DUF3635,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors GSG2 HGNC ENSG00000177602 106 1 0.93 89 23 20.35 - - - GSK3B 0 genome.wustl.edu 37 3 119721034 119721034 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 119721034 119721034 A C SNP GSK3B ENST00000316626 human ensembl 69_37n -1 known silent c.141 p.G47 0.999 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 GSK3B HGNC ENSG00000082701 409 3 0.73 266 69 20.35 - - - GSK3B 0 genome.wustl.edu 37 3 119721053 119721053 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 119721053 119721053 A C SNP GSK3B ENST00000316626 human ensembl 69_37n -1 known missense c.122 p.V41G 1.000 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 - no_errors GSK3B HGNC ENSG00000082701 426 1 0.23 290 46 13.69 - - - GSK3B 0 genome.wustl.edu 37 3 119721065 119721065 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 119721065 119721065 A C SNP GSK3B ENST00000316626 human ensembl 69_37n -1 known missense c.110 p.V37G 1.000 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 - no_errors GSK3B HGNC ENSG00000082701 430 0 0.00 303 63 17.21 - - - GSN 0 genome.wustl.edu 37 9 124065345 124065345 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 124065345 124065345 T G SNP GSN ENST00000373818 human ensembl 69_37n +1 known splice_site c.504+2 e3+2 1.000 - - - no_errors GSN HGNC ENSG00000148180 32 0 0.00 17 5 22.73 - - - GSTA5 0 genome.wustl.edu 37 6 52701109 52701109 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 52701109 52701109 A C SNP GSTA5 ENST00000284562 human ensembl 69_37n -1 known missense c.197 p.V66G 0.997 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA5 HGNC ENSG00000182793 232 1 0.43 203 28 12.07 - - - GSTM5 0 genome.wustl.edu 37 1 110256068 110256068 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 110256068 110256068 T G SNP GSTM5 ENST00000369812 human ensembl 69_37n +1 known missense c.197 p.V66G 0.001 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM5 HGNC ENSG00000134201 109 0 0.00 110 16 12.70 - - - GTF2E1 0 genome.wustl.edu 37 3 120495323 120495323 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 120495323 120495323 A C SNP GTF2E1 ENST00000283875 human ensembl 69_37n +1 known missense c.704 p.H235P 1.000 NULL pfam_TFIIEa/SarR/Rpc3_HTH_dom,pfam_TFIIE_asu_C,pfam_Znf_TFIIB,smart_TFIIE_asu - no_errors GTF2E1 HGNC ENSG00000153767 339 0 0.00 379 44 10.40 - - - GTF2IRD2 0 genome.wustl.edu 37 7 74211429 74211429 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 74211429 74211429 T G SNP GTF2IRD2 ENST00000405086 human ensembl 69_37n -1 known missense c.2422 p.T808P 1.000 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 234 0 0.00 222 28 11.20 - - - GTF3C2 0 genome.wustl.edu 37 2 27556561 27556561 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 27556561 27556561 T G SNP GTF3C2 ENST00000264720 human ensembl 69_37n -1 known missense c.1693 p.T565P 0.974 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 GTF3C2 HGNC ENSG00000115207 216 1 0.46 148 23 13.45 - - - GTF3C3 0 genome.wustl.edu 37 2 197641299 197641299 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 197641299 197641299 A C SNP GTF3C3 ENST00000263956 human ensembl 69_37n -1 known missense c.1445 p.V482G 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 307 2 0.64 178 53 22.84 - - - GTSE1 0 genome.wustl.edu 37 22 46724632 46724632 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 46724632 46724632 T G SNP GTSE1 ENST00000454366 human ensembl 69_37n +1 known missense c.1772 p.V591G 0.000 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 89 0 0.00 64 18 21.95 - - - GZMA 0 genome.wustl.edu 37 5 54404052 54404052 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 54404052 54404052 T G SNP GZMA ENST00000274306 human ensembl 69_37n +1 known missense c.457 p.W153G 0.997 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors GZMA HGNC ENSG00000145649 126 0 0.00 114 28 19.58 - - - H2AFY2 0 genome.wustl.edu 37 10 71855471 71855471 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 71855471 71855471 A C SNP H2AFY2 ENST00000373255 human ensembl 69_37n +1 known missense c.650 p.H217P 1.000 pfam_A1pp,smart_A1pp,pirsf_Core_histone_macro-H2A,pfscan_A1pp pfam_A1pp,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_A1pp,pirsf_Core_histone_macro-H2A,pfscan_A1pp,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 41 0 0.00 60 16 21.05 - - - HABP2 0 genome.wustl.edu 37 10 115343055 115343055 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 115343055 115343055 T G SNP HABP2 ENST00000351270 human ensembl 69_37n +1 known missense c.1175 p.V392G 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Kringle,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HABP2 HGNC ENSG00000148702 93 0 0.00 101 17 14.41 - - - HABP4 0 genome.wustl.edu 37 9 99227625 99227625 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 99227625 99227625 T G SNP HABP4 ENST00000375249 human ensembl 69_37n +1 known silent c.519 p.G173 0.181 NULL pfam_HABP4_PAIRBP1-bd - no_errors HABP4 HGNC ENSG00000130956 251 2 0.79 169 23 11.98 - - - HARS 0 genome.wustl.edu 37 5 140056700 140056700 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140056700 140056700 A C SNP HARS ENST00000504156 human ensembl 69_37n -1 known silent c.825 p.G275 1.000 pirsf_His-tRNA_synth_IIA,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-synth_IIa_subgr pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_His-tRNA_synth_IIA,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-synth_IIa_subgr - no_errors HARS HGNC ENSG00000170445 211 1 0.47 149 24 13.87 - - - HAUS8 0 genome.wustl.edu 37 19 17179895 17179895 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 17179895 17179895 A C SNP HAUS8 ENST00000253669 human ensembl 69_37n -1 known silent c.93 p.G31 0.995 NULL NULL - no_errors HAUS8 HGNC ENSG00000131351 14 0 0.00 19 5 20.00 - - - HAVCR2 0 genome.wustl.edu 37 5 156533961 156533961 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 156533961 156533961 A C SNP HAVCR2 ENST00000307851 human ensembl 69_37n -1 known missense c.71 p.V24G 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors HAVCR2 HGNC ENSG00000135077 133 0 0.00 144 19 11.66 - - - HBS1L 0 genome.wustl.edu 37 6 135318630 135318630 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 135318630 135318630 A C SNP HBS1L ENST00000367837 human ensembl 69_37n -1 known missense c.704 p.V235G 0.962 NULL pfam_DUF1916,pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd - no_errors HBS1L HGNC ENSG00000112339 157 0 0.00 120 17 12.41 - - - HDAC6 0 genome.wustl.edu 37 X 48672897 48672897 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 48672897 48672897 A C SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known missense c.899 p.H300P 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 101 1 0.98 79 13 14.13 - - - HDAC6 0 genome.wustl.edu 37 X 48678616 48678616 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 48678616 48678616 A C SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known missense c.2333 p.H778P 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 76 0 0.00 47 16 25.40 - - - HDDC2 0 genome.wustl.edu 37 6 125621783 125621783 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 125621783 125621783 A C SNP HDDC2 ENST00000398153 human ensembl 69_37n -1 known missense c.107 p.V36G 1.000 NULL pfam_HD_domain,smart_HD/PDEase_dom - no_errors HDDC2 HGNC ENSG00000111906 133 0 0.00 74 26 26.00 - - - HEATR8 0 genome.wustl.edu 37 1 55119568 55119568 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 55119568 55119568 A C SNP HEATR8 ENST00000421030 human ensembl 69_37n +1 known silent c.969 p.P323 0.009 NULL superfamily_ARM-type_fold - no_errors HEATR8 HGNC ENSG00000184313 220 2 0.89 198 54 21.34 - - - HEATR8 0 genome.wustl.edu 37 1 55207292 55207292 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 55207292 55207292 A C SNP HEATR8 ENST00000460155 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors HEATR8 HGNC ENSG00000184313 43 0 0.00 19 16 44.44 - - - HECTD4 0 genome.wustl.edu 37 12 112666532 112666532 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 112666532 112666532 T G SNP HECTD4 ENST00000377560 human ensembl 69_37n -1 known silent c.6087 p.P2029 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 199 1 0.50 150 30 16.57 - - - HECW1 0 genome.wustl.edu 37 7 43540893 43540893 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 43540893 43540893 A C SNP HECW1 ENST00000395891 human ensembl 69_37n +1 known silent c.3603 p.S1201 0.938 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 224 1 0.44 198 30 13.04 - - - HECW2 0 genome.wustl.edu 37 2 197085561 197085561 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 197085561 197085561 A C SNP HECW2 ENST00000260983 human ensembl 69_37n -1 known silent c.4251 p.G1417 0.033 pfam_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW2 HGNC ENSG00000138411 260 2 0.76 177 36 16.90 - - - HECW2 0 genome.wustl.edu 37 2 197194348 197194348 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 197194348 197194348 A C SNP HECW2 ENST00000260983 human ensembl 69_37n -1 known silent c.522 p.G174 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW2 HGNC ENSG00000138411 219 0 0.00 145 27 15.70 - - - HEG1 0 genome.wustl.edu 37 3 124732038 124732038 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 124732038 124732038 T G SNP HEG1 ENST00000311127 human ensembl 69_37n -1 known silent c.2385 p.S795 0.002 NULL pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 142 1 0.69 136 20 12.74 - - - HEPH 0 genome.wustl.edu 37 X 65486389 65486389 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 65486389 65486389 A C SNP HEPH ENST00000519389 human ensembl 69_37n +1 known missense c.3514 p.T1172P 0.004 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 211 1 0.47 140 30 17.65 - - - HEPHL1 0 genome.wustl.edu 37 11 93826726 93826726 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 93826726 93826726 T G SNP HEPHL1 ENST00000315765 human ensembl 69_37n +1 known missense c.2354 p.V785G 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 286 0 0.00 231 28 10.77 - - - HERC4 0 genome.wustl.edu 37 10 69714455 69714455 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 69714455 69714455 A C SNP HERC4 ENST00000395198 human ensembl 69_37n -1 known missense c.2258 p.V753G 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 162 1 0.61 101 33 24.63 - - - HERC4 0 genome.wustl.edu 37 10 69785428 69785428 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 69785428 69785428 A C SNP HERC4 ENST00000427635 human ensembl 69_37n -1 known missense c.772 p.W258G 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HERC4 HGNC ENSG00000148634 234 0 0.00 195 28 12.44 - - - HERC4 0 genome.wustl.edu 37 10 69832821 69832821 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 69832821 69832821 A C SNP HERC4 ENST00000427635 human ensembl 69_37n -1 known missense c.34 p.W12G 0.998 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HERC4 HGNC ENSG00000148634 130 0 0.00 86 17 16.35 - - - HERPUD2 0 genome.wustl.edu 37 7 35673350 35673350 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 35673350 35673350 T G SNP HERPUD2 ENST00000311350 human ensembl 69_37n -1 known missense c.1171 p.T391P 1.000 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors HERPUD2 HGNC ENSG00000122557 134 0 0.00 140 21 12.96 - - - HIP1 0 genome.wustl.edu 37 7 75168744 75168744 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 75168744 75168744 A C SNP HIP1 ENST00000336926 human ensembl 69_37n -1 known missense c.2960 p.V987G 1.000 pfam_ILWEQ,smart_ILWEQ,pfscan_ILWEQ pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1 HGNC ENSG00000127946 195 1 0.51 257 62 19.31 - - - HIPK2 0 genome.wustl.edu 37 7 139416320 139416320 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 139416320 139416320 T G SNP HIPK2 ENST00000406875 human ensembl 69_37n -1 known missense c.514 p.T172P 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK2 HGNC ENSG00000064393 184 1 0.54 190 32 14.35 - - - HIPK3 0 genome.wustl.edu 37 11 33374870 33374870 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 33374870 33374870 A C SNP HIPK3 ENST00000303296 human ensembl 69_37n +1 known missense c.3404 p.H1135P 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK3 HGNC ENSG00000110422 290 1 0.34 343 60 14.81 - - - HIPK3 0 genome.wustl.edu 37 11 33375090 33375090 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 33375090 33375090 A C SNP HIPK3 ENST00000303296 human ensembl 69_37n +1 known missense c.3624 p.K1208N 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK3 HGNC ENSG00000110422 220 1 0.45 249 33 11.70 - - - HIST1H3F 0 genome.wustl.edu 37 6 26250529 26250529 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 26250529 26250529 A C SNP HIST1H3F ENST00000446824 human ensembl 69_37n -1 known missense c.305 p.V102G 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3F HGNC ENSG00000256316 65 0 0.00 59 11 15.49 - - - HK3 0 genome.wustl.edu 37 5 176323136 176323136 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 176323136 176323136 A C SNP HK3 ENST00000292432 human ensembl 69_37n -1 known missense c.25 p.L9V 0.000 NULL pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 114 1 0.86 140 18 11.39 - - - HLA-DMB 0 genome.wustl.edu 37 6 32906595 32906595 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 32906595 32906595 A C SNP HLA-DMB ENST00000418107 human ensembl 69_37n -1 known missense c.203 p.V68G 0.000 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMB HGNC ENSG00000242574 131 0 0.00 65 17 20.73 - - - HLA-DRB5 0 genome.wustl.edu 37 6 32487287 32487287 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 32487287 32487287 A C SNP HLA-DRB5 ENST00000374975 human ensembl 69_37n -1 known missense c.512 p.V171G 0.949 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB5 HGNC ENSG00000198502 268 0 0.00 213 36 14.46 - - - HLA-F 0 genome.wustl.edu 37 6 29693241 29693241 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 29693241 29693241 A C SNP HLA-F ENST00000259951 human ensembl 69_37n +1 known missense c.904 p.T302P 0.001 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-F HGNC ENSG00000204642 261 2 0.76 160 26 13.90 - - - HLA-F 0 genome.wustl.edu 37 6 29694783 29694783 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 29694783 29694783 T G SNP HLA-F ENST00000440587 human ensembl 69_37n +1 known splice_site c.771+2 e4+2 0.999 - - - no_errors HLA-F HGNC ENSG00000204642 372 1 0.27 226 38 14.39 - - - HMCN1 0 genome.wustl.edu 37 1 186014911 186014911 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 186014911 186014911 A C SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known silent c.6396 p.P2132 0.562 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 92 0 0.00 121 14 10.37 - - - HMGCL 0 genome.wustl.edu 37 1 24140474 24140474 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 24140474 24140474 T G SNP HMGCL ENST00000479458 human ensembl 69_37n -1 known rna NULL NULL 0.051 - - - no_errors HMGCL HGNC ENSG00000117305 28 0 0.00 27 12 30.77 - - - HNRNPC 0 genome.wustl.edu 37 14 21679531 21679531 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 21679531 21679531 A C SNP HNRNPC ENST00000336053 human ensembl 69_37n -1 putative missense c.832 p.W278G 0.981 pirsf_hnRNP_C_Raly pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPC HGNC ENSG00000092199 318 2 0.62 200 54 21.26 - - - HNRNPC 0 genome.wustl.edu 37 14 21679534 21679534 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 21679534 21679534 A C SNP HNRNPC ENST00000336053 human ensembl 69_37n -1 putative missense c.829 p.W277G 0.979 pirsf_hnRNP_C_Raly pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPC HGNC ENSG00000092199 315 3 0.93 179 76 29.69 - - - HNRNPH2 0 genome.wustl.edu 37 X 100668170 100668170 + Silent SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 100668170 100668170 A G SNP HNRNPH2 ENST00000316594 human ensembl 69_37n +1 known silent c.1194 p.G398 0.999 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH2 HGNC ENSG00000126945 381 3 0.78 423 73 14.63 - - - HNRNPUL1 0 genome.wustl.edu 37 19 41810140 41810140 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 41810140 41810140 A C SNP HNRNPUL1 ENST00000392006 human ensembl 69_37n +1 known missense c.2236 p.T746P 0.424 NULL pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPUL1 HGNC ENSG00000105323 139 0 0.00 116 23 16.55 - - - HOXB6 0 genome.wustl.edu 37 17 46673849 46673849 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 46673849 46673849 A C SNP HOXB6 ENST00000225648 human ensembl 69_37n -1 known missense c.601 p.W201G 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain - no_errors HOXB6 HGNC ENSG00000108511 287 1 0.35 277 33 10.58 - - - HPS1 0 genome.wustl.edu 37 10 100202991 100202991 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 100202991 100202991 A C SNP HPS1 ENST00000325103 human ensembl 69_37n -1 known missense c.7 p.C3G 1.000 NULL NULL - no_errors HPS1 HGNC ENSG00000107521 105 0 0.00 85 13 13.27 - - - HPS6 0 genome.wustl.edu 37 10 103827162 103827162 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 103827162 103827162 T G SNP HPS6 ENST00000299238 human ensembl 69_37n +1 known missense c.1931 p.V644G 0.997 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 49 0 0.00 43 11 20.00 - - - HPSE2 0 genome.wustl.edu 37 10 100401668 100401668 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 100401668 100401668 A C SNP HPSE2 ENST00000370552 human ensembl 69_37n -1 known missense c.1034 p.V345G 1.000 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 382 1 0.26 267 67 20.06 - - - HPSE2 0 genome.wustl.edu 37 10 100401677 100401677 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 100401677 100401677 A C SNP HPSE2 ENST00000370552 human ensembl 69_37n -1 known missense c.1025 p.V342G 1.000 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 374 0 0.00 278 52 15.76 - - - HPX 0 genome.wustl.edu 37 11 6453030 6453030 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 6453030 6453030 T G SNP HPX ENST00000265983 human ensembl 69_37n -1 known missense c.970 p.T324P 0.983 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Hemopexin_chordata pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Hemopexin_chordata - no_errors HPX HGNC ENSG00000110169 338 0 0.00 453 59 11.50 - - - HRH1 0 genome.wustl.edu 37 3 11301330 11301330 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 11301330 11301330 A C SNP HRH1 ENST00000397056 human ensembl 69_37n +1 known missense c.607 p.T203P 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H1_recept,prints_7TM_GPCR_Rhodpsn,prints_Musac_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors HRH1 HGNC ENSG00000196639 167 0 0.00 127 28 17.83 - - - HRNR 0 genome.wustl.edu 37 1 152187862 152187862 + Silent SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 152187862 152187862 A G SNP HRNR ENST00000368801 human ensembl 69_37n -1 known silent c.6243 p.Y2081 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 86 0 0.00 76 16 17.02 - - - HS3ST5 0 genome.wustl.edu 37 6 114379169 114379169 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 114379169 114379169 A C SNP HS3ST5 ENST00000312719 human ensembl 69_37n -1 known missense c.293 p.V98G 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST5 HGNC ENSG00000249853 145 0 0.00 98 21 17.50 - - - HSD17B2 0 genome.wustl.edu 37 16 82101888 82101888 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 82101888 82101888 A C SNP HSD17B2 ENST00000199936 human ensembl 69_37n +1 known missense c.379 p.T127P 0.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B2 HGNC ENSG00000086696 133 0 0.00 118 19 13.77 - - - HSPA1L 0 genome.wustl.edu 37 6 31779258 31779258 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 31779258 31779258 A C SNP HSPA1L ENST00000375654 human ensembl 69_37n -1 known silent c.492 p.G164 0.934 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 87 0 0.00 68 14 16.87 - - - HTR1F 0 genome.wustl.edu 37 3 88040063 88040063 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 88040063 88040063 A C SNP HTR1F ENST00000319595 human ensembl 69_37n +1 known missense c.164 p.H55P 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT1F_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1F HGNC ENSG00000179097 173 1 0.57 131 39 22.94 - - - HTR2C 0 genome.wustl.edu 37 X 114082647 114082647 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 114082647 114082647 A C SNP HTR2C ENST00000276198 human ensembl 69_37n +1 known missense c.431 p.H144P 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2C_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 286 2 0.69 175 29 14.15 - - - HTR3A 0 genome.wustl.edu 37 11 113853925 113853925 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 113853925 113853925 T G SNP HTR3A ENST00000355556 human ensembl 69_37n +1 known missense c.476 p.V159G 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 254 0 0.00 207 25 10.73 - - - HTR3D 0 genome.wustl.edu 37 3 183756198 183756198 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 183756198 183756198 T G SNP HTR3D ENST00000382489 human ensembl 69_37n +1 known silent c.921 p.G307 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 161 0 0.00 154 26 14.44 - - - HUNK 0 genome.wustl.edu 37 21 33371431 33371431 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 33371431 33371431 A C SNP HUNK ENST00000270112 human ensembl 69_37n +1 known silent c.2079 p.P693 0.152 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HUNK HGNC ENSG00000142149 97 0 0.00 82 14 14.58 - - - HUWE1 0 genome.wustl.edu 37 X 53596651 53596651 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 53596651 53596651 A C SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.6449 p.V2150G 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 190 0 0.00 174 34 16.27 - - - ICK 0 genome.wustl.edu 37 6 52876621 52876621 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 52876621 52876621 T G SNP ICK ENST00000350082 human ensembl 69_37n -1 known missense c.1438 p.T480P 0.955 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 ICK HGNC ENSG00000112144 116 0 0.00 88 18 16.98 - - - ICK 0 genome.wustl.edu 37 6 52883234 52883234 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 52883234 52883234 A C SNP ICK ENST00000350082 human ensembl 69_37n -1 known missense c.557 p.V186G 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,pfscan_Prot_kinase_cat_dom 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 ICK HGNC ENSG00000112144 224 0 0.00 254 46 15.28 - - - ID3 0 genome.wustl.edu 37 1 23885718 23885718 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 23885718 23885718 A C SNP ID3 ENST00000374561 human ensembl 69_37n -1 known missense c.200 p.V67G 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors ID3 HGNC ENSG00000117318 48 0 0.00 82 16 16.33 - - - IDE 0 genome.wustl.edu 37 10 94267956 94267956 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 94267956 94267956 A C SNP IDE ENST00000265986 human ensembl 69_37n -1 known missense c.1067 p.V356G 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC ENSG00000119912 256 1 0.39 230 40 14.76 - - - IFI16 0 genome.wustl.edu 37 1 158986469 158986469 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 158986469 158986469 A C SNP IFI16 ENST00000295809 human ensembl 69_37n +1 known silent c.528 p.P176 0.001 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 163 0 0.00 285 39 11.96 - - - IFI35 0 genome.wustl.edu 37 17 41165193 41165193 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 41165193 41165193 A C SNP IFI35 ENST00000438323 human ensembl 69_37n +1 known missense c.250 p.T84P 0.878 pfam_Nmi/IFP35 pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N - no_errors IFI35 HGNC ENSG00000068079 105 1 0.94 98 25 20.33 - - - IFIT1 0 genome.wustl.edu 37 10 91162394 91162394 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 91162394 91162394 T G SNP IFIT1 ENST00000371804 human ensembl 69_37n +1 known missense c.362 p.V121G 1.000 smart_TPR_repeat pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1 HGNC ENSG00000185745 187 0 0.00 160 30 15.54 - - - IFNA14 0 genome.wustl.edu 37 9 21239549 21239549 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 21239549 21239549 A C SNP IFNA14 ENST00000380222 human ensembl 69_37n -1 known missense c.386 p.V129G 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA14 HGNC ENSG00000228083 466 2 0.42 475 95 16.64 - - - IFNA21 0 genome.wustl.edu 37 9 21166226 21166226 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 21166226 21166226 A C SNP IFNA21 ENST00000380225 human ensembl 69_37n -1 known missense c.386 p.V129G 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA21 HGNC ENSG00000137080 515 4 0.77 420 59 12.29 - - - IFNA6 0 genome.wustl.edu 37 9 21350852 21350852 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 21350852 21350852 A C SNP IFNA6 ENST00000380210 human ensembl 69_37n -1 known missense c.35 p.V12G 0.719 pfam_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA6 HGNC ENSG00000120235 202 0 0.00 154 27 14.84 - - - IFNA8 0 genome.wustl.edu 37 9 21409555 21409555 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 21409555 21409555 T G SNP IFNA8 ENST00000380205 human ensembl 69_37n +1 known missense c.380 p.V127G 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA8 HGNC ENSG00000120242 290 1 0.34 312 45 12.57 - - - IFT172 0 genome.wustl.edu 37 2 27700150 27700150 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 27700150 27700150 A C SNP IFT172 ENST00000260570 human ensembl 69_37n -1 known missense c.1259 p.V420G 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 276 0 0.00 278 34 10.86 - - - IFT172 0 genome.wustl.edu 37 2 27700950 27700950 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 27700950 27700950 A C SNP IFT172 ENST00000260570 human ensembl 69_37n -1 known missense c.1079 p.V360G 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 424 4 0.93 341 71 17.23 - - - IFT172 0 genome.wustl.edu 37 2 27700959 27700959 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 27700959 27700959 A C SNP IFT172 ENST00000260570 human ensembl 69_37n -1 known missense c.1070 p.V357G 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 432 3 0.69 323 76 19.05 - - - IFT172 0 genome.wustl.edu 37 2 27707130 27707130 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 27707130 27707130 A C SNP IFT172 ENST00000260570 human ensembl 69_37n -1 known silent c.300 p.G100 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 138 0 0.00 90 16 15.09 - - - IGF2BP3 0 genome.wustl.edu 37 7 23357301 23357301 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 23357301 23357301 A C SNP IGF2BP3 ENST00000258729 human ensembl 69_37n -1 known missense c.1352 p.V451G 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC ENSG00000136231 110 0 0.00 103 19 15.57 - - - IGFL2 0 genome.wustl.edu 37 19 46664008 46664008 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 46664008 46664008 A C SNP IGFL2 ENST00000434646 human ensembl 69_37n +1 known missense c.244 p.T82P 0.040 NULL NULL - no_errors IGFL2 HGNC ENSG00000204866 269 0 0.00 330 55 14.14 - - - IGHV1-24 0 genome.wustl.edu 37 14 106733406 106733406 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 106733406 106733406 A C SNP IGHV1-24 ENST00000390610 human ensembl 69_37n -1 known missense c.89 p.V30G 0.648 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV1-24 HGNC ENSG00000211950 276 2 0.71 226 42 15.56 - - - IGHV1-69 0 genome.wustl.edu 37 14 107170211 107170211 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 107170211 107170211 A C SNP IGHV1-69 ENST00000390633 human ensembl 69_37n -1 known missense c.71 p.V24G 0.071 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV1-69 HGNC ENSG00000211973 261 1 0.38 178 33 15.57 - - - IGHV1-69 0 genome.wustl.edu 37 14 107170220 107170220 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 107170220 107170220 A C SNP IGHV1-69 ENST00000390633 human ensembl 69_37n -1 known missense c.62 p.V21G 0.001 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV1-69 HGNC ENSG00000211973 257 1 0.39 183 24 11.48 - - - IGHV1-8 0 genome.wustl.edu 37 14 106539341 106539341 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 106539341 106539341 A C SNP IGHV1-8 ENST00000390599 human ensembl 69_37n -1 known missense c.89 p.V30G 0.000 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV1-8 HGNC ENSG00000211939 464 3 0.64 230 45 16.36 - - - IGHV3-21 0 genome.wustl.edu 37 14 106691953 106691953 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 106691953 106691953 A C SNP IGHV3-21 ENST00000390607 human ensembl 69_37n -1 known missense c.71 p.V24G 0.989 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-21 HGNC ENSG00000211947 372 3 0.80 292 46 13.57 - - - IGHV3-38 0 genome.wustl.edu 37 14 106866706 106866706 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 106866706 106866706 A C SNP IGHV3-38 ENST00000390618 human ensembl 69_37n -1 known silent c.48 p.G16 1.000 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-38 HGNC ENSG00000211958 513 4 0.77 394 47 10.66 - - - IGHV3-43 0 genome.wustl.edu 37 14 106926471 106926471 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 106926471 106926471 A C SNP IGHV3-43 ENST00000434710 human ensembl 69_37n -1 known missense c.71 p.V24G 0.981 pfam_Ig_V-set pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-43 HGNC ENSG00000232216 765 4 0.52 459 65 12.36 - - - IGHV3-49 0 genome.wustl.edu 37 14 107013224 107013224 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 107013224 107013224 A C SNP IGHV3-49 ENST00000390625 human ensembl 69_37n -1 known missense c.71 p.V24G 0.819 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-49 HGNC ENSG00000211965 383 3 0.78 211 37 14.80 - - - IGHV3-73 0 genome.wustl.edu 37 14 107211150 107211150 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 107211150 107211150 T G SNP IGHV3-73 ENST00000390636 human ensembl 69_37n -1 known missense c.139 p.T47P 0.878 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-73 HGNC ENSG00000211976 273 0 0.00 196 26 11.61 - - - IGHV3-74 0 genome.wustl.edu 37 14 107218956 107218956 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 107218956 107218956 A C SNP IGHV3-74 ENST00000424969 human ensembl 69_37n -1 known missense c.71 p.V24G 0.057 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-74 HGNC ENSG00000224650 339 3 0.87 212 37 14.80 - - - IGHV3-9 0 genome.wustl.edu 37 14 106552568 106552568 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 106552568 106552568 A C SNP IGHV3-9 ENST00000390600 human ensembl 69_37n -1 known missense c.71 p.V24G 0.915 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-9 HGNC ENSG00000211940 423 4 0.93 342 47 12.08 - - - IGHV4-28 0 genome.wustl.edu 37 14 106780704 106780704 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 106780704 106780704 A C SNP IGHV4-28 ENST00000390612 human ensembl 69_37n -1 known missense c.160 p.W54G 0.000 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV4-28 HGNC ENSG00000211952 232 0 0.00 157 29 15.59 - - - IGHV7-81 0 genome.wustl.edu 37 14 107283072 107283072 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 107283072 107283072 A C SNP IGHV7-81 ENST00000390639 human ensembl 69_37n -1 known missense c.71 p.V24G 0.979 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV7-81 HGNC ENSG00000211979 216 0 0.00 157 24 13.19 - - - IGKV1D-43 0 genome.wustl.edu 37 2 90249330 90249330 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 90249330 90249330 A C SNP IGKV1D-43 ENST00000468879 human ensembl 69_37n +1 known missense c.286 p.T96P 1.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV1D-43 HGNC ENSG00000242580 448 2 0.44 376 54 12.47 - - - IGKV6D-41 0 genome.wustl.edu 37 2 90108795 90108795 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 90108795 90108795 T G SNP IGKV6D-41 ENST00000390271 human ensembl 69_37n +1 known silent c.60 p.G20 0.001 pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV6D-41 HGNC ENSG00000211626 114 0 0.00 66 18 21.18 - - - IGLV1-50 0 genome.wustl.edu 37 22 22682086 22682086 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 22682086 22682086 A C SNP IGLV1-50 ENST00000390291 human ensembl 69_37n +1 known missense c.268 p.T90P 0.003 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGLV1-50 HGNC ENSG00000211645 296 2 0.67 176 42 19.27 - - - IGSF1 0 genome.wustl.edu 37 X 130409514 130409514 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 130409514 130409514 T G SNP IGSF1 ENST00000370903 human ensembl 69_37n -1 known missense c.3137 p.H1046P 1.000 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ENSG00000147255 310 1 0.32 246 40 13.99 - - - IGSF1 0 genome.wustl.edu 37 X 130411005 130411005 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 130411005 130411005 A C SNP IGSF1 ENST00000370903 human ensembl 69_37n -1 known missense c.2531 p.V844G 0.633 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ENSG00000147255 509 5 0.97 495 58 10.43 - - - IGSF10 0 genome.wustl.edu 37 3 151161597 151161597 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 151161597 151161597 A C SNP IGSF10 ENST00000282466 human ensembl 69_37n -1 known missense c.5138 p.V1713G 0.987 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,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 75 0 0.00 60 20 25.00 - - - IGSF10 0 genome.wustl.edu 37 3 151166299 151166299 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 151166299 151166299 A C SNP IGSF10 ENST00000282466 human ensembl 69_37n -1 known silent c.1470 p.G490 0.994 pfam_Ig_I-set,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 469 2 0.42 391 92 19.01 - - - IGSF22 0 genome.wustl.edu 37 11 18738505 18738505 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 18738505 18738505 A C SNP IGSF22 ENST00000513874 human ensembl 69_37n -1 known missense c.1016 p.V339G 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC ENSG00000179057 126 0 0.00 191 46 19.17 - - - IGSF8 0 genome.wustl.edu 37 1 160064670 160064670 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 160064670 160064670 A C SNP IGSF8 ENST00000314485 human ensembl 69_37n -1 known missense c.431 p.V144G 1.000 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors IGSF8 HGNC ENSG00000162729 82 0 0.00 59 13 18.06 - - - IKBKAP 0 genome.wustl.edu 37 9 111662598 111662598 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 111662598 111662598 A C SNP IKBKAP ENST00000374647 human ensembl 69_37n -1 known missense c.2072 p.V691G 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 285 0 0.00 170 33 16.18 - - - IKBKAP 0 genome.wustl.edu 37 9 111663934 111663934 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 111663934 111663934 A C SNP IKBKAP ENST00000374647 human ensembl 69_37n -1 known missense c.1882 p.C628G 0.994 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 319 1 0.31 236 33 12.27 - - - IKZF4 0 genome.wustl.edu 37 12 56428522 56428522 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 56428522 56428522 A C SNP IKZF4 ENST00000262032 human ensembl 69_37n +1 known missense c.1165 p.T389P 0.973 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF4 HGNC ENSG00000123411 115 0 0.00 225 47 17.22 - - - IL17A 0 genome.wustl.edu 37 6 52052584 52052584 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 52052584 52052584 A C SNP IL17A ENST00000340057 human ensembl 69_37n +1 known missense c.211 p.T71P 0.967 pfam_Interleukin-17 pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17A HGNC ENSG00000112115 429 1 0.23 298 62 17.17 - - - IL17A 0 genome.wustl.edu 37 6 52052589 52052589 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 52052589 52052589 A C SNP IL17A ENST00000340057 human ensembl 69_37n +1 known silent c.216 p.S72 0.996 pfam_Interleukin-17,prints_Interleukin-17_chordata pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17A HGNC ENSG00000112115 427 2 0.47 287 72 19.94 - - - IL18BP 0 genome.wustl.edu 37 11 71711525 71711525 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 71711525 71711525 T C SNP IL18BP ENST00000260049 human ensembl 69_37n +1 known missense c.157 p.S53P 0.006 NULL pfscan_Ig-like - no_errors IL18BP HGNC ENSG00000137496 127 1 0.78 140 20 12.50 - - - IL1A 0 genome.wustl.edu 37 2 113539285 113539285 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 113539285 113539285 A C SNP IL1A ENST00000263339 human ensembl 69_37n -1 known missense c.215 p.V72G 0.002 pfam_IL1_propep,prints_InterleukinIL1AB pfam_IL1_propep,pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_InterleukinIL1A,prints_InterleukinIL1AB,prints_Interleukin_1 - no_errors IL1A HGNC ENSG00000115008 174 1 0.56 187 24 11.27 - - - IL1F10 0 genome.wustl.edu 37 2 113832338 113832338 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 113832338 113832338 A C SNP IL1F10 ENST00000337569 human ensembl 69_37n +1 known missense c.157 p.T53P 0.679 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_InterleukinIL1B - no_errors IL1F10 HGNC ENSG00000136697 139 0 0.00 94 16 14.41 - - - IL1R2 0 genome.wustl.edu 37 2 102632475 102632475 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 102632475 102632475 A C SNP IL1R2 ENST00000332549 human ensembl 69_37n +1 known missense c.475 p.T159P 0.045 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II - no_errors IL1R2 HGNC ENSG00000115590 106 0 0.00 94 19 16.81 - - - IL1RL1 0 genome.wustl.edu 37 2 102959639 102959639 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 102959639 102959639 T G SNP IL1RL1 ENST00000233954 human ensembl 69_37n +1 known splice_site c.824+2 e6+2 0.987 - - - no_errors IL1RL1 HGNC ENSG00000115602 405 3 0.73 247 34 12.06 - - - IL21 0 genome.wustl.edu 37 4 123536876 123536876 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 123536876 123536876 T G SNP IL21 ENST00000264497 human ensembl 69_37n -1 known silent c.321 p.P107 0.424 pfam_Interleukin_15-like pfam_Interleukin_15-like - no_errors IL21 HGNC ENSG00000138684 183 0 0.00 110 26 18.98 - - - IL6R 0 genome.wustl.edu 37 1 154401795 154401795 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 154401795 154401795 A C SNP IL6R ENST00000368485 human ensembl 69_37n +1 known missense c.209 p.H70P 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IL6R HGNC ENSG00000160712 52 0 0.00 52 22 29.33 - - - ILK 0 genome.wustl.edu 37 11 6631244 6631244 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 6631244 6631244 A C SNP ILK ENST00000299421 human ensembl 69_37n +1 known silent c.1056 p.A352 0.959 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 62 0 0.00 51 13 20.00 - - - ILKAP 0 genome.wustl.edu 37 2 239079291 239079291 + Silent SNP C C T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 239079291 239079291 C T SNP ILKAP ENST00000254654 human ensembl 69_37n -1 known silent c.1065 p.G355 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors ILKAP HGNC ENSG00000132323 37 0 0.00 38 8 17.39 - - - ILKAP 0 genome.wustl.edu 37 2 239079292 239079292 + Missense_Mutation SNP C C T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 239079292 239079292 C T SNP ILKAP ENST00000254654 human ensembl 69_37n -1 known missense c.1064 p.G355E 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors ILKAP HGNC ENSG00000132323 38 0 0.00 39 8 17.02 - - - ILKAP 0 genome.wustl.edu 37 2 239079514 239079514 + Missense_Mutation SNP C C T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 239079514 239079514 C T SNP ILKAP ENST00000450411 human ensembl 69_37n -1 putative missense c.559 p.E187K 0.000 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_start_codon ILKAP HGNC ENSG00000132323 105 0 0.00 81 13 13.83 - - - ILKAP 0 genome.wustl.edu 37 2 239079528 239079528 + Missense_Mutation SNP C C T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 239079528 239079528 C T SNP ILKAP ENST00000450411 human ensembl 69_37n -1 putative missense c.545 p.R182K 0.002 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_start_codon ILKAP HGNC ENSG00000132323 128 0 0.00 90 15 14.29 - - - ILKAP 0 genome.wustl.edu 37 2 239079558 239079558 + Nonsense_Mutation SNP C C T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 239079558 239079558 C T SNP ILKAP ENST00000450411 human ensembl 69_37n -1 putative nonsense c.515 p.W172* 0.000 smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_start_codon ILKAP HGNC ENSG00000132323 149 0 0.00 131 21 13.82 - - - ILKAP 0 genome.wustl.edu 37 2 239098525 239098525 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 239098525 239098525 A C SNP ILKAP ENST00000254654 human ensembl 69_37n -1 known missense c.267 p.S89R 0.992 superfamily_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors ILKAP HGNC ENSG00000132323 85 0 0.00 106 14 11.67 - - - IMPA2 0 genome.wustl.edu 37 18 12028879 12028879 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 12028879 12028879 A C SNP IMPA2 ENST00000269159 human ensembl 69_37n +1 known missense c.638 p.H213P 1.000 pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen - no_errors IMPA2 HGNC ENSG00000141401 71 0 0.00 79 23 22.55 - - - IMPG2 0 genome.wustl.edu 37 3 100964821 100964821 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 100964821 100964821 A C SNP IMPG2 ENST00000193391 human ensembl 69_37n -1 known silent c.1368 p.G456 0.553 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC ENSG00000081148 258 0 0.00 149 19 11.31 - - - ING4 0 genome.wustl.edu 37 12 6761496 6761496 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 6761496 6761496 T G SNP ING4 ENST00000396807 human ensembl 69_37n -1 known missense c.589 p.T197P 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING4 HGNC ENSG00000111653 185 1 0.54 194 32 14.16 - - - INHA 0 genome.wustl.edu 37 2 220440174 220440174 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 220440174 220440174 A C SNP INHA ENST00000243786 human ensembl 69_37n +1 known missense c.1027 p.T343P 1.000 pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu - no_errors INHA HGNC ENSG00000123999 138 0 0.00 86 17 16.50 - - - INHBA 0 genome.wustl.edu 37 7 41739809 41739809 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 41739809 41739809 A C SNP INHBA ENST00000242208 human ensembl 69_37n -1 known missense c.164 p.V55G 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 194 0 0.00 188 25 11.63 - - - INHBE 0 genome.wustl.edu 37 12 57850426 57850426 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 57850426 57850426 A C SNP INHBE ENST00000266646 human ensembl 69_37n +1 known missense c.848 p.H283P 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu - no_errors INHBE HGNC ENSG00000139269 82 0 0.00 51 18 26.09 - - - INPP1 0 genome.wustl.edu 37 2 191235676 191235676 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 191235676 191235676 A C SNP INPP1 ENST00000322522 human ensembl 69_37n +1 known missense c.748 p.T250P 0.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors INPP1 HGNC ENSG00000151689 346 3 0.86 365 41 10.10 - - - INPPL1 0 genome.wustl.edu 37 11 71946992 71946992 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 71946992 71946992 A C SNP INPPL1 ENST00000298229 human ensembl 69_37n +1 known silent c.2841 p.P947 0.977 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 25 0 0.00 14 9 39.13 - - - INSIG2 0 genome.wustl.edu 37 2 118854309 118854309 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 118854309 118854309 A C SNP INSIG2 ENST00000245787 human ensembl 69_37n +1 known silent c.177 p.P59 0.998 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG2 HGNC ENSG00000125629 439 0 0.00 296 36 10.71 - - - INTS3 0 genome.wustl.edu 37 1 153737515 153737515 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 153737515 153737515 A C SNP INTS3 ENST00000318967 human ensembl 69_37n +1 known missense c.2066 p.H689P 1.000 NULL pfam_Integrator_3 - no_errors INTS3 HGNC ENSG00000143624 277 0 0.00 390 65 14.22 - - - INTS5 0 genome.wustl.edu 37 11 62414522 62414522 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62414522 62414522 T G SNP INTS5 ENST00000330574 human ensembl 69_37n -1 known silent c.3030 p.S1010 0.411 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 66 0 0.00 22 14 38.89 - - - INTS6 0 genome.wustl.edu 37 13 51948402 51948402 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 51948402 51948402 T G SNP INTS6 ENST00000311234 human ensembl 69_37n -1 known silent c.2046 p.P682 1.000 NULL pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC ENSG00000102786 267 1 0.37 214 44 17.05 - - - INTS9 0 genome.wustl.edu 37 8 28671028 28671028 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 28671028 28671028 A C SNP INTS9 ENST00000521022 human ensembl 69_37n -1 known missense c.590 p.V197G 1.000 NULL pfam_Beta_Casp - no_errors INTS9 HGNC ENSG00000104299 325 2 0.61 365 55 12.97 - - - IQCF3 0 genome.wustl.edu 37 3 51864453 51864453 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 51864453 51864453 T G SNP IQCF3 ENST00000437810 human ensembl 69_37n +1 known missense c.101 p.V34G 0.000 smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF3 HGNC ENSG00000229972 80 0 0.00 104 18 14.75 - - - IQSEC2 0 genome.wustl.edu 37 X 53280313 53280313 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 53280313 53280313 T G SNP IQSEC2 ENST00000396435 human ensembl 69_37n -1 known missense c.1445 p.H482P 1.000 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC2 HGNC ENSG00000124313 135 1 0.74 106 12 10.08 - - - IRAK2 0 genome.wustl.edu 37 3 10280615 10280615 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 10280615 10280615 A C SNP IRAK2 ENST00000256458 human ensembl 69_37n +1 known missense c.1657 p.T553P 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK2 HGNC ENSG00000134070 65 0 0.00 82 25 23.36 - - - IRS4 0 genome.wustl.edu 37 X 107977787 107977787 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 107977787 107977787 A C SNP IRS4 ENST00000372129 human ensembl 69_37n -1 known missense c.1788 p.S596R 1.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 214 0 0.00 133 20 13.07 - - - IRS4 0 genome.wustl.edu 37 X 107977913 107977913 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 107977913 107977913 A C SNP IRS4 ENST00000372129 human ensembl 69_37n -1 known silent c.1662 p.G554 0.994 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 166 1 0.60 84 20 19.23 - - - IRS4 0 genome.wustl.edu 37 X 107978066 107978066 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 107978066 107978066 A C SNP IRS4 ENST00000372129 human ensembl 69_37n -1 known silent c.1509 p.G503 1.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 149 1 0.67 50 20 28.57 - - - ISX 0 genome.wustl.edu 37 22 35481649 35481649 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 35481649 35481649 A C SNP ISX ENST00000308700 human ensembl 69_37n +1 known missense c.701 p.H234P 0.429 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ISX HGNC ENSG00000175329 188 1 0.52 151 43 22.05 - - - ITFG3 0 genome.wustl.edu 37 16 309556 309556 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 309556 309556 A C SNP ITFG3 ENST00000301678 human ensembl 69_37n +1 known missense c.343 p.T115P 0.000 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like - no_errors ITFG3 HGNC ENSG00000167930 108 0 0.00 74 19 20.43 - - - ITGA10 0 genome.wustl.edu 37 1 145537756 145537756 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 145537756 145537756 T G SNP ITGA10 ENST00000369304 human ensembl 69_37n +1 known missense c.2594 p.V865G 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 168 0 0.00 199 43 17.70 - - - ITGA10 0 genome.wustl.edu 37 1 145538292 145538292 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 145538292 145538292 A C SNP ITGA10 ENST00000369304 human ensembl 69_37n +1 known missense c.2819 p.H940P 0.850 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 224 2 0.88 296 52 14.86 - - - ITGA4 0 genome.wustl.edu 37 2 182374434 182374434 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 182374434 182374434 A C SNP ITGA4 ENST00000397033 human ensembl 69_37n +1 known missense c.1745 p.H582P 1.000 pfam_Integrin_alpha-2,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 212 1 0.47 154 22 12.50 - - - ITGA7 0 genome.wustl.edu 37 12 56091782 56091782 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 56091782 56091782 A C SNP ITGA7 ENST00000555728 human ensembl 69_37n -1 known silent c.1353 p.G451 0.425 pfam_FG-GAP,smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 252 0 0.00 196 40 16.74 - - - ITGAV 0 genome.wustl.edu 37 2 187511546 187511546 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 187511546 187511546 A C SNP ITGAV ENST00000261023 human ensembl 69_37n +1 known silent c.1293 p.P431 0.529 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 162 0 0.00 89 18 16.82 - - - ITGB1 0 genome.wustl.edu 37 10 33212631 33212631 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 33212631 33212631 A C SNP ITGB1 ENST00000374956 human ensembl 69_37n -1 known missense c.824 p.V275G 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB1 HGNC ENSG00000150093 92 0 0.00 62 22 26.19 - - - ITGB3 0 genome.wustl.edu 37 17 45362032 45362032 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 45362032 45362032 A C SNP ITGB3 ENST00000262017 human ensembl 69_37n +1 known silent c.585 p.P195 0.983 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 217 1 0.46 284 42 12.84 - - - ITGBL1 0 genome.wustl.edu 37 13 102227836 102227836 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 102227836 102227836 T G SNP ITGBL1 ENST00000376180 human ensembl 69_37n +1 known silent c.525 p.G175 0.998 pfam_EGF_extracell,smart_EGF-like pfam_EGF_extracell,smart_EGF-like - no_errors ITGBL1 HGNC ENSG00000198542 260 1 0.38 214 34 13.71 - - - ITGBL1 0 genome.wustl.edu 37 13 102345100 102345100 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 102345100 102345100 A C SNP ITGBL1 ENST00000474233 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ITGBL1 HGNC ENSG00000198542 194 1 0.51 111 23 17.04 - - - ITLN2 0 genome.wustl.edu 37 1 160921010 160921010 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 160921010 160921010 A C SNP ITLN2 ENST00000368029 human ensembl 69_37n -1 known silent c.264 p.G88 0.993 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C - no_errors ITLN2 HGNC ENSG00000158764 69 0 0.00 122 29 19.21 - - - ITPR2 0 genome.wustl.edu 37 12 26749941 26749941 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 26749941 26749941 T G SNP ITPR2 ENST00000381340 human ensembl 69_37n -1 known missense c.4129 p.T1377P 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 297 2 0.66 229 51 18.15 - - - ITPR2 0 genome.wustl.edu 37 12 26774129 26774129 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 26774129 26774129 A C SNP ITPR2 ENST00000381340 human ensembl 69_37n -1 known missense c.3389 p.V1130G 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 456 1 0.22 405 51 11.18 - - - ITSN1 0 genome.wustl.edu 37 21 35138278 35138278 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 35138278 35138278 A C SNP ITSN1 ENST00000381285 human ensembl 69_37n +1 known silent c.888 p.P296 0.128 smart_EPS15_homology,pfscan_EPS15_homology pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ITSN1 HGNC ENSG00000205726 82 0 0.00 83 21 20.19 - - - ITSN1 0 genome.wustl.edu 37 21 35190573 35190573 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 35190573 35190573 T G SNP ITSN1 ENST00000381285 human ensembl 69_37n +1 known silent c.2730 p.G910 0.984 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ITSN1 HGNC ENSG00000205726 136 0 0.00 154 51 24.76 - - - ITSN1 0 genome.wustl.edu 37 21 35190581 35190581 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 35190581 35190581 T G SNP ITSN1 ENST00000381285 human ensembl 69_37n +1 known missense c.2738 p.V913G 1.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ITSN1 HGNC ENSG00000205726 140 1 0.70 160 46 22.33 - - - JAG1 0 genome.wustl.edu 37 20 10626028 10626028 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 10626028 10626028 A C SNP JAG1 ENST00000254958 human ensembl 69_37n -1 known missense c.2089 p.W697G 1.000 pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 83 0 0.00 92 24 20.51 - - - JAG1 0 genome.wustl.edu 37 20 10626844 10626844 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 10626844 10626844 A C SNP JAG1 ENST00000488480 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors JAG1 HGNC ENSG00000101384 35 0 0.00 23 13 36.11 - - - JAK1 0 genome.wustl.edu 37 1 65325612 65325612 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 65325612 65325612 T G SNP JAK1 ENST00000494904 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors JAK1 HGNC ENSG00000162434 30 0 0.00 16 5 23.81 - - - JAK1 0 genome.wustl.edu 37 1 65332736 65332736 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 65332736 65332736 A C SNP JAK1 ENST00000342505 human ensembl 69_37n -1 known missense c.803 p.V268G 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors JAK1 HGNC ENSG00000162434 314 1 0.32 225 33 12.79 - - - JAKMIP2 0 genome.wustl.edu 37 5 147040935 147040935 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 147040935 147040935 A C SNP JAKMIP2 ENST00000265272 human ensembl 69_37n -1 known missense c.203 p.V68G 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 281 0 0.00 292 44 13.02 - - - KAL1 0 genome.wustl.edu 37 X 8503572 8503572 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 8503572 8503572 T G SNP KAL1 ENST00000481896 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors KAL1 HGNC ENSG00000011201 41 0 0.00 33 7 17.50 - - - KALRN 0 genome.wustl.edu 37 3 124385449 124385449 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 124385449 124385449 A C SNP KALRN ENST00000360013 human ensembl 69_37n +1 known missense c.6496 p.T2166P 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 56 0 0.00 56 16 21.92 - - - KANSL3 0 genome.wustl.edu 37 2 97277974 97277974 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 97277974 97277974 T G SNP KANSL3 ENST00000448075 human ensembl 69_37n -1 putative silent c.513 p.I171 0.000 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region KANSL3 HGNC ENSG00000114982 108 0 0.00 80 22 21.57 - - - KARS 0 genome.wustl.edu 37 16 75665399 75665399 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 75665399 75665399 T G SNP KARS ENST00000319410 human ensembl 69_37n -1 known silent c.1251 p.P417 0.909 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Lys-tRNA-synth_II pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Lys-tRNA-synth_II_C,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Lys-tRNA-synth_II - no_errors KARS HGNC ENSG00000065427 78 0 0.00 74 14 15.91 - - - KAT2B 0 genome.wustl.edu 37 3 20189800 20189800 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 20189800 20189800 T G SNP KAT2B ENST00000263754 human ensembl 69_37n +1 known splice_site c.2220+2 e16+2 1.000 - - - no_errors KAT2B HGNC ENSG00000114166 192 0 0.00 197 29 12.78 - - - KAT6B 0 genome.wustl.edu 37 10 76788734 76788734 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 76788734 76788734 T G SNP KAT6B ENST00000287239 human ensembl 69_37n +1 known silent c.4152 p.G1384 0.203 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 238 1 0.41 176 26 12.81 - - - KBTBD6 0 genome.wustl.edu 37 13 41705646 41705646 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 41705646 41705646 T G SNP KBTBD6 ENST00000379485 human ensembl 69_37n -1 known silent c.1002 p.P334 0.158 NULL pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 181 0 0.00 157 32 16.93 - - - KBTBD8 0 genome.wustl.edu 37 3 67054597 67054597 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 67054597 67054597 T G SNP KBTBD8 ENST00000417314 human ensembl 69_37n +1 known silent c.1206 p.G402 0.891 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD8 HGNC ENSG00000163376 214 1 0.47 159 30 15.87 - - - KCNA1 0 genome.wustl.edu 37 12 5021756 5021756 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 5021756 5021756 A C SNP KCNA1 ENST00000382545 human ensembl 69_37n +1 known silent c.1212 p.V404 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 290 1 0.34 228 29 11.20 - - - KCNA10 0 genome.wustl.edu 37 1 111060119 111060119 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 111060119 111060119 T G SNP KCNA10 ENST00000369771 human ensembl 69_37n -1 known missense c.1291 p.T431P 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 99 0 0.00 72 17 18.89 - - - KCNA4 0 genome.wustl.edu 37 11 30032939 30032939 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 30032939 30032939 A C SNP KCNA4 ENST00000328224 human ensembl 69_37n -1 known silent c.1287 p.G429 0.996 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 187 0 0.00 256 31 10.76 - - - KCND2 0 genome.wustl.edu 37 7 120382628 120382628 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 120382628 120382628 A C SNP KCND2 ENST00000331113 human ensembl 69_37n +1 known missense c.1439 p.H480P 1.000 pfam_K_chnl_volt-dep_Kv4_C,prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 136 1 0.72 117 19 13.87 - - - KCND3 0 genome.wustl.edu 37 1 112319781 112319781 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 112319781 112319781 T G SNP KCND3 ENST00000315987 human ensembl 69_37n -1 known missense c.1633 p.T545P 1.000 pfam_K_chnl_volt-dep_Kv4_C pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 126 1 0.79 77 21 21.43 - - - KCNH7 0 genome.wustl.edu 37 2 163256808 163256808 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 163256808 163256808 T G SNP KCNH7 ENST00000332142 human ensembl 69_37n -1 known silent c.2298 p.A766 0.987 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 266 0 0.00 146 33 18.44 - - - KCNH8 0 genome.wustl.edu 37 3 19575395 19575395 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 19575395 19575395 A C SNP KCNH8 ENST00000328405 human ensembl 69_37n +1 known missense c.3128 p.H1043P 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 281 0 0.00 202 29 12.50 - - - KCNJ10 0 genome.wustl.edu 37 1 160011387 160011387 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 160011387 160011387 T G SNP KCNJ10 ENST00000368089 human ensembl 69_37n -1 known silent c.936 p.T312 0.904 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 172 1 0.58 189 52 21.49 - - - KCNJ10 0 genome.wustl.edu 37 1 160012303 160012303 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 160012303 160012303 A C SNP KCNJ10 ENST00000368089 human ensembl 69_37n -1 known missense c.20 p.V7G 1.000 prints_K_chnl_inward-rec_Kir1.2 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 214 0 0.00 295 43 12.68 - - - KCNJ2 0 genome.wustl.edu 37 17 68172085 68172085 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 68172085 68172085 T G SNP KCNJ2 ENST00000243457 human ensembl 69_37n +1 known missense c.905 p.V302G 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 118 1 0.84 91 15 14.15 - - - KCNJ6 0 genome.wustl.edu 37 21 39086841 39086841 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 39086841 39086841 T G SNP KCNJ6 ENST00000288309 human ensembl 69_37n -1 known missense c.619 p.T207P 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 101 0 0.00 67 12 15.19 - - - KCNJ8 0 genome.wustl.edu 37 12 21919227 21919227 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 21919227 21919227 T G SNP KCNJ8 ENST00000240662 human ensembl 69_37n -1 known silent c.705 p.T235 0.100 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 254 1 0.39 177 25 12.20 - - - KCNK16 0 genome.wustl.edu 37 6 39290284 39290284 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 39290284 39290284 A C SNP KCNK16 ENST00000425054 human ensembl 69_37n -1 known silent c.33 p.G11 0.558 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl - no_errors KCNK16 HGNC ENSG00000095981 23 0 0.00 7 7 50.00 - - - KCNMB2 0 genome.wustl.edu 37 3 178546070 178546070 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 178546070 178546070 A C SNP KCNMB2 ENST00000358316 human ensembl 69_37n +1 known missense c.332 p.Y111S 1.000 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB2 HGNC ENSG00000197584 84 0 0.00 75 21 21.65 - - - KCNQ5 0 genome.wustl.edu 37 6 73815081 73815081 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 73815081 73815081 A C SNP KCNQ5 ENST00000402622 human ensembl 69_37n +1 known silent c.1020 p.A340 0.997 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 448 3 0.66 325 52 13.72 - - - KCNQ5 0 genome.wustl.edu 37 6 73843278 73843278 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 73843278 73843278 T G SNP KCNQ5 ENST00000402622 human ensembl 69_37n +1 known missense c.1412 p.V471G 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 114 0 0.00 84 13 13.40 - - - KCNS3 0 genome.wustl.edu 37 2 18113138 18113138 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 18113138 18113138 T G SNP KCNS3 ENST00000304101 human ensembl 69_37n +1 known missense c.863 p.V288G 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 252 2 0.79 198 28 12.39 - - - KCTD19 0 genome.wustl.edu 37 16 67327854 67327854 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 67327854 67327854 T G SNP KCTD19 ENST00000304372 human ensembl 69_37n -1 known missense c.1811 p.H604P 0.842 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 114 1 0.87 60 10 14.29 - - - KCTD19 0 genome.wustl.edu 37 16 67335712 67335712 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 67335712 67335712 A C SNP KCTD19 ENST00000304372 human ensembl 69_37n -1 known missense c.757 p.W253G 0.006 superfamily_BTB/POZ_fold pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 135 0 0.00 126 17 11.81 - - - KDM1A 0 genome.wustl.edu 37 1 23405610 23405610 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 23405610 23405610 A C SNP KDM1A ENST00000542151 human ensembl 69_37n +1 known silent c.1995 p.P665 0.010 pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC ENSG00000004487 241 1 0.41 203 33 13.98 - - - KDM2A 0 genome.wustl.edu 37 11 67012672 67012672 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 67012672 67012672 A C SNP KDM2A ENST00000529006 human ensembl 69_37n +1 known missense c.1576 p.T526P 0.002 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 229 0 0.00 207 32 13.39 - - - KDM4C 0 genome.wustl.edu 37 9 6849509 6849509 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 6849509 6849509 T G SNP KDM4C ENST00000381309 human ensembl 69_37n +1 known silent c.438 p.G146 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 236 0 0.00 258 36 12.20 - - - KDM5A 0 genome.wustl.edu 37 12 404772 404772 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 404772 404772 T G SNP KDM5A ENST00000399788 human ensembl 69_37n -1 known silent c.4422 p.P1474 0.998 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 492 0 0.00 398 61 13.26 - - - KDM6A 0 genome.wustl.edu 37 X 44949989 44949989 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 44949989 44949989 T G SNP KDM6A ENST00000382899 human ensembl 69_37n +1 known missense c.3779 p.V1260G 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 101 1 0.97 105 24 18.60 - - - KEL 0 genome.wustl.edu 37 7 142658954 142658954 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 142658954 142658954 A C SNP KEL ENST00000460479 human ensembl 69_37n -1 novel missense c.40 p.W14G 0.015 NULL pfam_Peptidase_M13_N - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KEL HGNC ENSG00000197993 357 1 0.28 614 113 15.54 - - - KHDRBS3 0 genome.wustl.edu 37 8 136594200 136594200 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 136594200 136594200 A C SNP KHDRBS3 ENST00000355849 human ensembl 69_37n +1 known missense c.691 p.T231P 0.820 NULL smart_KH_dom - no_errors KHDRBS3 HGNC ENSG00000131773 79 0 0.00 67 21 23.86 - - - KHK 0 genome.wustl.edu 37 2 27322065 27322065 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 27322065 27322065 T G SNP KHK ENST00000260598 human ensembl 69_37n +1 known missense c.566 p.V189G 1.000 pfam_PfkB pfam_PfkB - no_errors KHK HGNC ENSG00000138030 40 0 0.00 44 16 26.67 - - - KIAA0020 0 genome.wustl.edu 37 9 2837292 2837292 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 2837292 2837292 A C SNP KIAA0020 ENST00000397885 human ensembl 69_37n -1 known silent c.192 p.G64 0.991 NULL pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 345 1 0.29 281 34 10.69 - - - KIAA0100 0 genome.wustl.edu 37 17 26943634 26943634 + Splice_Site SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 26943634 26943634 A C SNP KIAA0100 ENST00000005905 human ensembl 69_37n -1 known splice_site c.6157+2 e35+2 1.000 - - - no_errors KIAA0100 HGNC ENSG00000007202 255 0 0.00 221 28 11.24 - - - KIAA0141 0 genome.wustl.edu 37 5 141309165 141309165 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 141309165 141309165 T C SNP KIAA0141 ENST00000194118 human ensembl 69_37n +1 known missense c.431 p.L144P 0.994 NULL pfam_Sel1-like,smart_Sel1-like - no_errors KIAA0141 HGNC ENSG00000081791 34 0 0.00 41 10 19.61 - - - KIAA0141 0 genome.wustl.edu 37 5 141318278 141318278 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 141318278 141318278 A C SNP KIAA0141 ENST00000194118 human ensembl 69_37n +1 known missense c.1502 p.H501P 0.000 NULL pfam_Sel1-like,smart_Sel1-like - no_errors KIAA0141 HGNC ENSG00000081791 250 1 0.40 174 36 17.14 - - - KIAA0226L 0 genome.wustl.edu 37 13 46942904 46942904 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 46942904 46942904 T G SNP KIAA0226L ENST00000389908 human ensembl 69_37n -1 known silent c.582 p.S194 0.112 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 227 0 0.00 176 27 13.30 - - - KIAA0247 0 genome.wustl.edu 37 14 70125403 70125403 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 70125403 70125403 A C SNP KIAA0247 ENST00000342745 human ensembl 69_37n +1 known missense c.94 p.T32P 1.000 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors KIAA0247 HGNC ENSG00000100647 151 0 0.00 100 20 16.53 - - - KIAA0317 0 genome.wustl.edu 37 14 75142442 75142442 + Splice_Site SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 75142442 75142442 A C SNP KIAA0317 ENST00000490805 human ensembl 69_37n -1 novel splice_site c.281+2 e2+2 1.000 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIAA0317 HGNC ENSG00000119682 352 1 0.28 250 33 11.62 - - - KIAA0317 0 genome.wustl.edu 37 14 75142455 75142455 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 75142455 75142455 T G SNP KIAA0317 ENST00000356357 human ensembl 69_37n -1 known missense c.1027 p.T343P 1.000 NULL pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors KIAA0317 HGNC ENSG00000119682 326 0 0.00 233 34 12.73 - - - KIAA0319L 0 genome.wustl.edu 37 1 35972493 35972493 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 35972493 35972493 A C SNP KIAA0319L ENST00000325722 human ensembl 69_37n -1 known missense c.386 p.V129G 1.000 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 141 1 0.70 89 19 17.59 - - - KIAA0368 0 genome.wustl.edu 37 9 114159317 114159317 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 114159317 114159317 T G SNP KIAA0368 ENST00000259335 human ensembl 69_37n -1 known silent c.3303 p.P1101 0.950 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 146 1 0.68 86 22 20.18 - - - KIAA0368 0 genome.wustl.edu 37 9 114173368 114173368 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 114173368 114173368 A C SNP KIAA0368 ENST00000259335 human ensembl 69_37n -1 known missense c.2803 p.Y935D 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 497 2 0.40 363 62 14.49 - - - KIAA0368 0 genome.wustl.edu 37 9 114173376 114173376 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 114173376 114173376 A C SNP KIAA0368 ENST00000259335 human ensembl 69_37n -1 known missense c.2795 p.V932G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 502 0 0.00 380 45 10.56 - - - KIAA0430 0 genome.wustl.edu 37 16 15729751 15729751 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 15729751 15729751 T G SNP KIAA0430 ENST00000396368 human ensembl 69_37n -1 known missense c.593 p.H198P 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 127 1 0.78 126 18 12.41 - - - KIAA0430 0 genome.wustl.edu 37 16 15729775 15729775 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 15729775 15729775 T G SNP KIAA0430 ENST00000396368 human ensembl 69_37n -1 known missense c.569 p.H190P 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 137 1 0.72 124 29 18.71 - - - KIAA0528 0 genome.wustl.edu 37 12 22670987 22670987 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 22670987 22670987 T G SNP KIAA0528 ENST00000542683 human ensembl 69_37n -1 known missense c.293 p.H98P 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIAA0528 HGNC ENSG00000111731 219 0 0.00 167 25 12.95 - - - KIAA0528 0 genome.wustl.edu 37 12 22697065 22697065 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 22697065 22697065 A C SNP KIAA0528 ENST00000333957 human ensembl 69_37n -1 known missense c.20 p.V7G 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors KIAA0528 HGNC ENSG00000111731 49 0 0.00 27 12 30.77 - - - KIAA0586 0 genome.wustl.edu 37 14 58965602 58965602 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 58965602 58965602 A C SNP KIAA0586 ENST00000556134 human ensembl 69_37n +1 known silent c.4047 p.P1349 0.297 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 59 0 0.00 35 14 28.57 - - - KIAA0586 0 genome.wustl.edu 37 14 59014500 59014500 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 59014500 59014500 T G SNP KIAA0586 ENST00000354386 human ensembl 69_37n +1 putative missense c.4741 p.W1581G 0.674 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 70 0 0.00 80 19 19.19 - - - KIAA0753 0 genome.wustl.edu 37 17 6483151 6483151 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 6483151 6483151 A C SNP KIAA0753 ENST00000361413 human ensembl 69_37n -1 known silent c.2820 p.G940 0.031 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 260 0 0.00 226 32 12.36 - - - KIAA0753 0 genome.wustl.edu 37 17 6511767 6511767 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 6511767 6511767 A C SNP KIAA0753 ENST00000361413 human ensembl 69_37n -1 known missense c.1730 p.V577G 0.231 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 282 1 0.35 201 46 18.55 - - - KIAA0753 0 genome.wustl.edu 37 17 6531850 6531850 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 6531850 6531850 T G SNP KIAA0753 ENST00000361413 human ensembl 69_37n -1 known missense c.305 p.H102P 1.000 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 177 0 0.00 117 18 13.14 - - - KIAA0895L 0 genome.wustl.edu 37 16 67210838 67210838 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 67210838 67210838 A C SNP KIAA0895L ENST00000290881 human ensembl 69_37n -1 known missense c.1292 p.V431G 0.992 pfam_DUF1704 pfam_DUF1704 - no_errors KIAA0895L HGNC ENSG00000196123 134 1 0.73 72 20 21.28 - - - KIAA0913 0 genome.wustl.edu 37 10 75557188 75557188 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 75557188 75557188 A C SNP KIAA0913 ENST00000398706 human ensembl 69_37n +1 known missense c.3487 p.T1163P 0.998 NULL pfscan_Znf_SWIM - no_errors KIAA0913 HGNC ENSG00000214655 65 0 0.00 67 17 20.24 - - - KIAA0947 0 genome.wustl.edu 37 5 5461350 5461350 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 5461350 5461350 A C SNP KIAA0947 ENST00000296564 human ensembl 69_37n +1 known missense c.1903 p.T635P 0.001 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 166 1 0.60 193 45 18.91 - - - KIAA1024 0 genome.wustl.edu 37 15 79750602 79750602 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 79750602 79750602 A C SNP KIAA1024 ENST00000305428 human ensembl 69_37n +1 known missense c.2113 p.T705P 0.001 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 191 1 0.52 182 26 12.50 - - - KIAA1109 0 genome.wustl.edu 37 4 123255664 123255664 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 123255664 123255664 A C SNP KIAA1109 ENST00000264501 human ensembl 69_37n +1 known missense c.11812 p.T3938P 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 156 0 0.00 107 25 18.94 - - - KIAA1210 0 genome.wustl.edu 37 X 118221102 118221102 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 118221102 118221102 T G SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.4091 p.H1364P 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 516 2 0.39 276 46 14.24 - - - KIAA1211L 0 genome.wustl.edu 37 2 99449368 99449368 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 99449368 99449368 A C SNP KIAA1211L ENST00000397899 human ensembl 69_37n -1 known missense c.332 p.V111G 0.998 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 231 0 0.00 174 52 23.01 - - - KIAA1211L 0 genome.wustl.edu 37 2 99463247 99463247 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 99463247 99463247 A C SNP KIAA1211L ENST00000397899 human ensembl 69_37n -1 known missense c.17 p.V6G 1.000 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 100 0 0.00 90 19 17.43 - - - KIAA1217 0 genome.wustl.edu 37 10 24834959 24834959 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 24834959 24834959 A C SNP KIAA1217 ENST00000376454 human ensembl 69_37n +1 known silent c.5538 p.P1846 0.012 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 335 3 0.89 310 80 20.51 - - - KIAA1324 0 genome.wustl.edu 37 1 109740604 109740604 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 109740604 109740604 T G SNP KIAA1324 ENST00000369939 human ensembl 69_37n +1 known missense c.2306 p.V769G 1.000 superfamily_Man6P_isomerase_rcpt-bd_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt - no_errors KIAA1324 HGNC ENSG00000116299 102 1 0.97 48 14 22.58 - - - KIAA1324L 0 genome.wustl.edu 37 7 86548595 86548595 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 86548595 86548595 A C SNP KIAA1324L ENST00000450689 human ensembl 69_37n -1 known missense c.1431 p.S477R 1.000 superfamily_Growth_fac_rcpt superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt - no_errors KIAA1324L HGNC ENSG00000164659 210 1 0.47 157 21 11.80 - - - KIAA1328 0 genome.wustl.edu 37 18 34753007 34753007 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 34753007 34753007 A C SNP KIAA1328 ENST00000280020 human ensembl 69_37n +1 known missense c.1486 p.T496P 0.000 NULL NULL - no_errors KIAA1328 HGNC ENSG00000150477 374 0 0.00 255 36 12.37 - - - KIAA1432 0 genome.wustl.edu 37 9 5757375 5757375 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 5757375 5757375 A C SNP KIAA1432 ENST00000418622 human ensembl 69_37n +1 known missense c.1679 p.H560P 1.000 NULL pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 317 3 0.93 253 45 15.05 - - - KIAA1462 0 genome.wustl.edu 37 10 30315897 30315897 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 30315897 30315897 A C SNP KIAA1462 ENST00000375377 human ensembl 69_37n -1 known silent c.3180 p.G1060 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 205 0 0.00 200 31 13.36 - - - KIAA1462 0 genome.wustl.edu 37 10 30318312 30318312 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 30318312 30318312 T G SNP KIAA1462 ENST00000375377 human ensembl 69_37n -1 known silent c.765 p.S255 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 166 0 0.00 110 21 16.03 - - - KIAA1549L 0 genome.wustl.edu 37 11 33564682 33564682 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 33564682 33564682 A C SNP KIAA1549L ENST00000389726 human ensembl 69_37n +1 known missense c.682 p.T228P 0.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 283 1 0.35 389 59 13.11 - - - KIAA1737 0 genome.wustl.edu 37 14 77579857 77579857 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 77579857 77579857 A C SNP KIAA1737 ENST00000361786 human ensembl 69_37n +1 known silent c.396 p.P132 0.524 NULL NULL - no_errors KIAA1737 HGNC ENSG00000198894 98 0 0.00 58 10 14.71 - - - KIAA1755 0 genome.wustl.edu 37 20 36869781 36869781 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 36869781 36869781 A C SNP KIAA1755 ENST00000279024 human ensembl 69_37n -1 known missense c.752 p.V251G 1.000 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 211 2 0.93 121 28 18.79 - - - KIAA2018 0 genome.wustl.edu 37 3 113378848 113378848 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 113378848 113378848 T G SNP KIAA2018 ENST00000316407 human ensembl 69_37n -1 known missense c.1681 p.T561P 0.946 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors KIAA2018 HGNC ENSG00000176542 238 0 0.00 222 34 13.28 - - - KIAA2026 0 genome.wustl.edu 37 9 5920350 5920350 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 5920350 5920350 T G SNP KIAA2026 ENST00000399933 human ensembl 69_37n -1 novel silent c.5646 p.T1882 0.982 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 461 3 0.65 310 42 11.86 - - - KIAA2026 0 genome.wustl.edu 37 9 5921650 5921650 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 5921650 5921650 T G SNP KIAA2026 ENST00000399933 human ensembl 69_37n -1 novel missense c.4346 p.Y1449S 0.686 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 223 0 0.00 157 19 10.73 - - - KIDINS220 0 genome.wustl.edu 37 2 8926448 8926448 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 8926448 8926448 A C SNP KIDINS220 ENST00000256707 human ensembl 69_37n -1 known silent c.1827 p.G609 0.601 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 786 2 0.25 506 65 11.38 - - - KIDINS220 0 genome.wustl.edu 37 2 8930118 8930118 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 8930118 8930118 T G SNP KIDINS220 ENST00000256707 human ensembl 69_37n -1 known missense c.1513 p.T505P 0.997 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 616 2 0.32 341 50 12.76 - - - KIDINS220 0 genome.wustl.edu 37 2 8940593 8940593 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 8940593 8940593 A C SNP KIDINS220 ENST00000256707 human ensembl 69_37n -1 known silent c.837 p.G279 0.996 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 375 0 0.00 252 54 17.65 - - - KIF13A 0 genome.wustl.edu 37 6 17800249 17800249 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 17800249 17800249 A C SNP KIF13A ENST00000259711 human ensembl 69_37n -1 known missense c.2550 p.S850R 0.994 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 185 1 0.54 205 31 13.08 - - - KIF14 0 genome.wustl.edu 37 1 200571175 200571175 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 200571175 200571175 A C SNP KIF14 ENST00000367350 human ensembl 69_37n -1 known silent c.2001 p.G667 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 71 0 0.00 78 17 17.71 - - - KIF16B 0 genome.wustl.edu 37 20 16407783 16407783 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 16407783 16407783 A C SNP KIF16B ENST00000408042 human ensembl 69_37n -1 known silent c.1578 p.G526 0.986 pfam_FHA_dom,superfamily_SMAD_FHA_domain pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 660 4 0.60 352 50 12.41 - - - KIF16B 0 genome.wustl.edu 37 20 16488620 16488620 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 16488620 16488620 T G SNP KIF16B ENST00000408042 human ensembl 69_37n -1 known missense c.682 p.T228P 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 210 0 0.00 155 22 12.43 - - - KIF19 0 genome.wustl.edu 37 17 72347013 72347013 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 72347013 72347013 T G SNP KIF19 ENST00000389916 human ensembl 69_37n +1 known missense c.1556 p.V519G 0.052 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 30 0 0.00 19 8 29.63 - - - KIF21A 0 genome.wustl.edu 37 12 39726826 39726826 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 39726826 39726826 T G SNP KIF21A ENST00000547108 human ensembl 69_37n -1 known missense c.344 p.H115P 0.000 NULL superfamily_Prefoldin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIF21A HGNC ENSG00000139116 146 0 0.00 105 18 14.63 - - - KIF21B 0 genome.wustl.edu 37 1 200972805 200972805 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 200972805 200972805 A C SNP KIF21B ENST00000422435 human ensembl 69_37n -1 known missense c.1121 p.V374G 1.000 smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 48 0 0.00 59 13 17.81 - - - KIF24 0 genome.wustl.edu 37 9 34257302 34257302 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 34257302 34257302 T G SNP KIF24 ENST00000379166 human ensembl 69_37n -1 known missense c.2303 p.H768P 1.000 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 143 0 0.00 106 18 14.52 - - - KIF24 0 genome.wustl.edu 37 9 34259647 34259647 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 34259647 34259647 T G SNP KIF24 ENST00000379166 human ensembl 69_37n -1 known silent c.1572 p.S524 0.995 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 95 0 0.00 93 22 19.13 - - - KIF3A 0 genome.wustl.edu 37 5 132052056 132052056 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 132052056 132052056 T G SNP KIF3A ENST00000378735 human ensembl 69_37n -1 known missense c.835 p.T279P 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3A HGNC ENSG00000131437 146 0 0.00 147 23 13.29 - - - KIF6 0 genome.wustl.edu 37 6 39313492 39313492 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 39313492 39313492 T G SNP KIF6 ENST00000287152 human ensembl 69_37n -1 known missense c.2305 p.T769P 0.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 20 0 0.00 10 9 47.37 - - - KIF6 0 genome.wustl.edu 37 6 39507921 39507921 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 39507921 39507921 A C SNP KIF6 ENST00000458470 human ensembl 69_37n -1 known missense c.1178 p.V393G 0.003 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIF6 HGNC ENSG00000164627 353 2 0.56 237 29 10.86 - - - KIF7 0 genome.wustl.edu 37 15 90189238 90189238 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 90189238 90189238 T C SNP KIF7 ENST00000394412 human ensembl 69_37n -1 known missense c.1808 p.E603G 0.917 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 152 0 0.00 83 16 16.16 - - - KLF11 0 genome.wustl.edu 37 2 10188218 10188218 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 10188218 10188218 T G SNP KLF11 ENST00000305883 human ensembl 69_37n +1 known missense c.754 p.W252G 0.114 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF11 HGNC ENSG00000172059 63 0 0.00 54 8 12.90 - - - KLHL1 0 genome.wustl.edu 37 13 70314611 70314611 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 70314611 70314611 A C SNP KLHL1 ENST00000377844 human ensembl 69_37n -1 known missense c.1717 p.W573G 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 115 1 0.86 82 23 21.90 - - - KLHL13 0 genome.wustl.edu 37 X 117033137 117033137 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 117033137 117033137 T G SNP KLHL13 ENST00000539496 human ensembl 69_37n -1 known missense c.1711 p.T571P 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC ENSG00000003096 407 2 0.49 329 48 12.66 - - - KLHL38 0 genome.wustl.edu 37 8 124664670 124664670 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 124664670 124664670 A C SNP KLHL38 ENST00000325995 human ensembl 69_37n -1 known missense c.497 p.V166G 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 165 0 0.00 82 21 20.19 - - - KLHL6 0 genome.wustl.edu 37 3 183226052 183226052 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 183226052 183226052 A C SNP KLHL6 ENST00000341319 human ensembl 69_37n -1 known missense c.704 p.V235G 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 137 0 0.00 146 26 15.03 - - - KLHL7 0 genome.wustl.edu 37 7 23213710 23213710 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 23213710 23213710 T G SNP KLHL7 ENST00000339077 human ensembl 69_37n +1 known silent c.1554 p.G518 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 183 1 0.54 145 23 13.61 - - - KLHL8 0 genome.wustl.edu 37 4 88085134 88085134 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 88085134 88085134 A C SNP KLHL8 ENST00000273963 human ensembl 69_37n -1 known silent c.1635 p.G545 0.437 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC ENSG00000145332 286 2 0.69 135 31 18.56 - - - KLKB1 0 genome.wustl.edu 37 4 187171492 187171492 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 187171492 187171492 A C SNP KLKB1 ENST00000264690 human ensembl 69_37n +1 known missense c.694 p.T232P 1.000 pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app,prints_Apple pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A - no_errors KLKB1 HGNC ENSG00000164344 308 2 0.65 244 33 11.87 - - - KRT10 0 genome.wustl.edu 37 17 38978706 38978706 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 38978706 38978706 A C SNP KRT10 ENST00000269576 human ensembl 69_37n -1 known silent c.132 p.G44 0.996 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 144 0 0.00 104 24 18.46 - - - KRT13 0 genome.wustl.edu 37 17 39661749 39661749 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 39661749 39661749 A C SNP KRT13 ENST00000246635 human ensembl 69_37n -1 known silent c.54 p.G18 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 56 0 0.00 42 22 34.38 - - - KRT16 0 genome.wustl.edu 37 17 39768585 39768585 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 39768585 39768585 A C SNP KRT16 ENST00000301653 human ensembl 69_37n -1 known missense c.356 p.V119G 0.044 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 215 2 0.92 144 21 12.73 - - - KRT24 0 genome.wustl.edu 37 17 38859682 38859682 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 38859682 38859682 A C SNP KRT24 ENST00000264651 human ensembl 69_37n -1 known silent c.264 p.G88 0.002 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 242 2 0.82 336 88 20.75 - - - KRT28 0 genome.wustl.edu 37 17 38955996 38955996 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 38955996 38955996 T C SNP KRT28 ENST00000306658 human ensembl 69_37n -1 known silent c.150 p.G50 0.991 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 99 1 1.00 163 29 15.10 - - - KRT28 0 genome.wustl.edu 37 17 38956017 38956017 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 38956017 38956017 A C SNP KRT28 ENST00000306658 human ensembl 69_37n -1 known missense c.129 p.S43R 0.998 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 101 0 0.00 161 23 12.50 - - - KRT3 0 genome.wustl.edu 37 12 53186544 53186544 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 53186544 53186544 A C SNP KRT3 ENST00000309505 human ensembl 69_37n -1 known missense c.974 p.V325G 0.839 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 244 1 0.41 148 20 11.90 - - - KRT3 0 genome.wustl.edu 37 12 53186562 53186562 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 53186562 53186562 A C SNP KRT3 ENST00000309505 human ensembl 69_37n -1 known missense c.956 p.V319G 1.000 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 233 0 0.00 142 24 14.29 - - - KRT3 0 genome.wustl.edu 37 12 53189593 53189593 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 53189593 53189593 T C SNP KRT3 ENST00000309505 human ensembl 69_37n -1 known silent c.234 p.G78 0.386 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 68 0 0.00 49 15 23.08 - - - KRT4 0 genome.wustl.edu 37 12 53203216 53203216 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 53203216 53203216 A C SNP KRT4 ENST00000293774 human ensembl 69_37n -1 known missense c.1007 p.V336G 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 90 0 0.00 84 21 20.00 - - - KRT6B 0 genome.wustl.edu 37 12 52841596 52841596 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 52841596 52841596 T G SNP KRT6B ENST00000252252 human ensembl 69_37n -1 known missense c.1390 p.T464P 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 289 2 0.69 206 40 16.19 - - - KRT72 0 genome.wustl.edu 37 12 52981449 52981449 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 52981449 52981449 T G SNP KRT72 ENST00000293745 human ensembl 69_37n -1 known missense c.1276 p.T426P 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 214 2 0.93 163 32 16.24 - - - KRT85 0 genome.wustl.edu 37 12 52756741 52756741 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 52756741 52756741 A C SNP KRT85 ENST00000257901 human ensembl 69_37n -1 known missense c.974 p.V325G 0.996 pfam_F,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 166 0 0.00 97 26 21.14 - - - KRTAP10-5 0 genome.wustl.edu 37 21 45999867 45999867 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 45999867 45999867 T G SNP KRTAP10-5 ENST00000400372 human ensembl 69_37n -1 known missense c.589 p.T197P 0.135 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 510 3 0.58 429 58 11.79 - - - KRTAP10-7 0 genome.wustl.edu 37 21 46021260 46021260 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 46021260 46021260 A C SNP KRTAP10-7 ENST00000380102 human ensembl 69_37n +1 known missense c.739 p.T247P 0.000 NULL NULL - no_errors KRTAP10-7 HGNC ENSG00000205441 252 0 0.00 207 26 11.06 - - - KRTAP10-8 0 genome.wustl.edu 37 21 46032120 46032120 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 46032120 46032120 A C SNP KRTAP10-8 ENST00000334662 human ensembl 69_37n +1 known missense c.103 p.T35P 0.000 pfam_PMG pfam_PMG - no_errors KRTAP10-8 HGNC ENSG00000187766 236 1 0.42 213 47 17.67 - - - KRTAP15-1 0 genome.wustl.edu 37 21 31812820 31812820 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 31812820 31812820 A C SNP KRTAP15-1 ENST00000334067 human ensembl 69_37n +1 known missense c.175 p.T59P 0.010 pfam_PMG pfam_PMG - no_errors KRTAP15-1 HGNC ENSG00000186970 265 1 0.38 236 37 13.55 - - - KRTAP15-1 0 genome.wustl.edu 37 21 31813013 31813013 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 31813013 31813013 A C SNP KRTAP15-1 ENST00000334067 human ensembl 69_37n +1 known missense c.368 p.H123P 0.000 pfam_PMG pfam_PMG - no_errors KRTAP15-1 HGNC ENSG00000186970 198 0 0.00 161 36 18.27 - - - KRTAP19-8 0 genome.wustl.edu 37 21 32410706 32410706 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 32410706 32410706 A C SNP KRTAP19-8 ENST00000382822 human ensembl 69_37n -1 known silent c.57 p.G19 0.002 pfam_KRTAP pfam_KRTAP - no_errors KRTAP19-8 HGNC ENSG00000206102 373 3 0.80 388 60 13.36 - - - KRTAP3-3 0 genome.wustl.edu 37 17 39150183 39150183 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 39150183 39150183 T G SNP KRTAP3-3 ENST00000391586 human ensembl 69_37n -1 known missense c.167 p.H56P 1.000 pfam_Keratin_matx pfam_Keratin_matx - no_errors KRTAP3-3 HGNC ENSG00000212899 113 0 0.00 182 21 10.34 - - - KRTAP5-1 0 genome.wustl.edu 37 11 1606198 1606198 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 1606198 1606198 T C SNP KRTAP5-1 ENST00000382171 human ensembl 69_37n -1 known silent c.282 p.G94 0.006 NULL NULL - no_errors KRTAP5-1 HGNC ENSG00000205869 97 1 0.99 129 25 15.92 - - - KRTAP9-4 0 genome.wustl.edu 37 17 39406399 39406399 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 39406399 39406399 A C SNP KRTAP9-4 ENST00000334109 human ensembl 69_37n +1 known missense c.427 p.T143P 0.001 NULL NULL - no_errors KRTAP9-4 HGNC ENSG00000241595 447 2 0.44 465 90 16.16 - - - KTN1 0 genome.wustl.edu 37 14 56146398 56146398 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 56146398 56146398 T G SNP KTN1 ENST00000395309 human ensembl 69_37n +1 known missense c.4064 p.V1355G 0.007 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 271 1 0.36 171 24 12.24 - - - L3MBTL3 0 genome.wustl.edu 37 6 130370959 130370959 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 130370959 130370959 A C SNP L3MBTL3 ENST00000361794 human ensembl 69_37n +1 known silent c.273 p.P91 1.000 NULL pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 161 0 0.00 170 23 11.92 - - - L3MBTL4 0 genome.wustl.edu 37 18 6263967 6263967 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 6263967 6263967 T G SNP L3MBTL4 ENST00000284898 human ensembl 69_37n -1 known silent c.198 p.A66 0.449 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 145 0 0.00 111 25 18.38 - - - LACTB 0 genome.wustl.edu 37 15 63433551 63433551 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 63433551 63433551 T G SNP LACTB ENST00000261893 human ensembl 69_37n +1 known silent c.1191 p.G397 0.990 pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like - no_errors LACTB HGNC ENSG00000103642 187 1 0.53 244 37 13.17 - - - LAMA2 0 genome.wustl.edu 37 6 129581940 129581940 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 129581940 129581940 A C SNP LAMA2 ENST00000421865 human ensembl 69_37n +1 known silent c.2181 p.P727 0.972 pfam_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 170 1 0.58 182 23 11.22 - - - LAMA3 0 genome.wustl.edu 37 18 21419829 21419829 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 21419829 21419829 A C SNP LAMA3 ENST00000313654 human ensembl 69_37n +1 known missense c.3272 p.H1091P 0.000 NULL pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 141 1 0.70 73 25 25.51 - - - LAMA4 0 genome.wustl.edu 37 6 112450275 112450275 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 112450275 112450275 A C SNP LAMA4 ENST00000230538 human ensembl 69_37n -1 known missense c.4136 p.V1379G 1.000 superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EGF-like,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 182 0 0.00 109 30 21.58 - - - LAMB3 0 genome.wustl.edu 37 1 209796405 209796405 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 209796405 209796405 A C SNP LAMB3 ENST00000356082 human ensembl 69_37n -1 known silent c.2478 p.G826 0.014 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 63 0 0.00 105 25 18.94 - - - LAMC1 0 genome.wustl.edu 37 1 183079679 183079679 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 183079679 183079679 T G SNP LAMC1 ENST00000258341 human ensembl 69_37n +1 known missense c.911 p.V304G 0.998 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 149 0 0.00 265 38 12.50 - - - LAMC2 0 genome.wustl.edu 37 1 183208514 183208514 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 183208514 183208514 T G SNP LAMC2 ENST00000264144 human ensembl 69_37n +1 known missense c.2885 p.V962G 0.971 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 203 0 0.00 233 51 17.89 - - - LARS 0 genome.wustl.edu 37 5 145562183 145562183 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 145562183 145562183 A C SNP LARS ENST00000505223 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors LARS HGNC ENSG00000133706 44 0 0.00 32 9 21.95 - - - LARS2 0 genome.wustl.edu 37 3 45518026 45518026 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 45518026 45518026 A C SNP LARS2 ENST00000265537 human ensembl 69_37n +1 known missense c.925 p.T309P 0.158 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_bac/mito pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-synth_Ia_bac/mito,tigrfam_Leu-tRNA-synth_Ia_bac/mito - no_errors LARS2 HGNC ENSG00000011376 154 1 0.64 92 23 20.00 - - - LCE3D 0 genome.wustl.edu 37 1 152552374 152552374 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 152552374 152552374 T G SNP LCE3D ENST00000368787 human ensembl 69_37n -1 known silent c.39 p.P13 0.996 NULL NULL - no_errors LCE3D HGNC ENSG00000163202 186 0 0.00 228 42 15.50 - - - LCLAT1 0 genome.wustl.edu 37 2 30863242 30863242 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 30863242 30863242 A C SNP LCLAT1 ENST00000309052 human ensembl 69_37n +1 known silent c.1002 p.P334 0.019 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors LCLAT1 HGNC ENSG00000172954 265 0 0.00 216 35 13.94 - - - LCP1 0 genome.wustl.edu 37 13 46722523 46722523 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 46722523 46722523 A C SNP LCP1 ENST00000323076 human ensembl 69_37n -1 known silent c.942 p.G314 0.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF-hand,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors LCP1 HGNC ENSG00000136167 651 5 0.76 498 65 11.52 - - - LELP1 0 genome.wustl.edu 37 1 153177406 153177406 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 153177406 153177406 A C SNP LELP1 ENST00000368747 human ensembl 69_37n +1 known missense c.223 p.T75P 0.000 NULL NULL - no_errors LELP1 HGNC ENSG00000203784 118 1 0.84 200 26 11.30 - - - LEP 0 genome.wustl.edu 37 7 127894539 127894539 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 127894539 127894539 A C SNP LEP ENST00000308868 human ensembl 69_37n +1 known missense c.227 p.D76A 1.000 pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin - no_errors LEP HGNC ENSG00000174697 161 1 0.62 151 26 14.53 - - - LGALS13 0 genome.wustl.edu 37 19 40095243 40095243 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 40095243 40095243 T G SNP LGALS13 ENST00000221797 human ensembl 69_37n +1 known missense c.17 p.V6G 0.038 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALS13 HGNC ENSG00000105198 122 1 0.81 108 35 24.48 - - - LGALS16 0 genome.wustl.edu 37 19 40148524 40148524 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 40148524 40148524 T G SNP LGALS16 ENST00000392051 human ensembl 69_37n +1 known missense c.17 p.V6G 0.018 superfamily_ConA-like_lec_gl,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALS16 HGNC ENSG00000249861 121 0 0.00 101 23 18.40 - - - LGR5 0 genome.wustl.edu 37 12 71978451 71978451 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 71978451 71978451 A C SNP LGR5 ENST00000266674 human ensembl 69_37n +1 known silent c.2661 p.S887 0.073 NULL pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LGR5 HGNC ENSG00000139292 244 0 0.00 217 42 16.15 - - - LHCGR 0 genome.wustl.edu 37 2 48914907 48914907 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 48914907 48914907 T G SNP LHCGR ENST00000294954 human ensembl 69_37n -1 known missense c.2029 p.T677P 0.000 prints_LSH_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_LSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors LHCGR HGNC ENSG00000138039 274 0 0.00 229 48 17.14 - - - LHX8 0 genome.wustl.edu 37 1 75622661 75622661 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 75622661 75622661 A C SNP LHX8 ENST00000294638 human ensembl 69_37n +1 known silent c.894 p.P298 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX8 HGNC ENSG00000162624 317 0 0.00 198 49 19.68 - - - LILRA2 0 genome.wustl.edu 37 19 55086285 55086285 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 55086285 55086285 T G SNP LILRA2 ENST00000251377 human ensembl 69_37n +1 known missense c.440 p.V147G 0.000 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA2 HGNC ENSG00000239998 191 0 0.00 85 21 19.63 - - - LILRB2 0 genome.wustl.edu 37 19 54782146 54782146 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 54782146 54782146 T G SNP LILRB2 ENST00000391749 human ensembl 69_37n -1 known missense c.1226 p.H409P 0.000 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB2 HGNC ENSG00000131042 75 0 0.00 67 23 25.56 - - - LIM2 0 genome.wustl.edu 37 19 51883785 51883785 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 51883785 51883785 A C SNP LIM2 ENST00000221973 human ensembl 69_37n -1 known missense c.560 p.V187G 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20 pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20 - no_errors LIM2 HGNC ENSG00000105370 93 0 0.00 139 27 16.17 - - - LINGO1 0 genome.wustl.edu 37 15 77907410 77907410 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 77907410 77907410 T G SNP LINGO1 ENST00000355300 human ensembl 69_37n -1 known missense c.839 p.Y280S 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO1 HGNC ENSG00000169783 48 0 0.00 12 11 45.83 - - - LINGO1 0 genome.wustl.edu 37 15 77907578 77907578 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 77907578 77907578 T G SNP LINGO1 ENST00000355300 human ensembl 69_37n -1 known missense c.671 p.H224P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO1 HGNC ENSG00000169783 85 0 0.00 50 11 18.03 - - - LINGO4 0 genome.wustl.edu 37 1 151773670 151773670 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 151773670 151773670 A C SNP LINGO4 ENST00000368820 human ensembl 69_37n -1 known missense c.1511 p.V504G 0.428 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,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,pfscan_Ig-like - no_errors LINGO4 HGNC ENSG00000213171 202 0 0.00 239 32 11.72 - - - LIPE 0 genome.wustl.edu 37 19 42912250 42912250 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 42912250 42912250 T G SNP LIPE ENST00000244289 human ensembl 69_37n -1 known missense c.1534 p.T512P 1.000 pfam_HSL_N pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 105 1 0.93 62 29 31.52 - - - LIPE 0 genome.wustl.edu 37 19 42931008 42931008 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 42931008 42931008 T G SNP LIPE ENST00000244289 human ensembl 69_37n -1 known silent c.294 p.S98 0.857 NULL pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 172 0 0.00 139 22 13.66 - - - LIPF 0 genome.wustl.edu 37 10 90431603 90431603 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 90431603 90431603 A C SNP LIPF ENST00000394375 human ensembl 69_37n +1 known missense c.580 p.T194P 0.873 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 1002 5 0.50 873 105 10.74 - - - LIPG 0 genome.wustl.edu 37 18 47107797 47107797 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 47107797 47107797 T G SNP LIPG ENST00000261292 human ensembl 69_37n +1 known missense c.806 p.V269G 0.095 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep,pfscan_LipOase_LH2 - no_errors LIPG HGNC ENSG00000101670 154 1 0.64 125 23 15.44 - - - LMO3 0 genome.wustl.edu 37 12 16753638 16753638 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 16753638 16753638 T G SNP LMO3 ENST00000541295 human ensembl 69_37n -1 known missense c.211 p.T71P 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO3 HGNC ENSG00000048540 140 0 0.00 124 24 16.00 - - - LMOD1 0 genome.wustl.edu 37 1 201915329 201915329 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 201915329 201915329 A C SNP LMOD1 ENST00000367288 human ensembl 69_37n -1 known missense c.140 p.V47G 0.997 pfam_Tropomodulin pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 73 0 0.00 137 16 10.26 - - - LMOD2 0 genome.wustl.edu 37 7 123302581 123302581 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 123302581 123302581 T G SNP LMOD2 ENST00000458573 human ensembl 69_37n +1 known missense c.941 p.V314G 1.000 NULL pfam_Tropomodulin,pfscan_WH2_dom - no_errors LMOD2 HGNC ENSG00000170807 254 2 0.78 279 47 14.29 - - - LMTK2 0 genome.wustl.edu 37 7 97822150 97822150 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 97822150 97822150 T G SNP LMTK2 ENST00000297293 human ensembl 69_37n +1 known silent c.2373 p.G791 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 157 0 0.00 103 15 12.71 - - - LPA 0 genome.wustl.edu 37 6 161006194 161006194 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 161006194 161006194 A C SNP LPA ENST00000316300 human ensembl 69_37n -1 known silent c.4173 p.G1391 0.003 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors LPA HGNC ENSG00000198670 367 1 0.27 275 37 11.78 - - - LPA 0 genome.wustl.edu 37 6 161026213 161026213 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 161026213 161026213 A C SNP LPA ENST00000316300 human ensembl 69_37n -1 known missense c.2810 p.V937G 0.979 superfamily_Kringle-like pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors LPA HGNC ENSG00000198670 499 3 0.60 530 66 11.04 - - - LPAR4 0 genome.wustl.edu 37 X 78010754 78010754 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 78010754 78010754 A C SNP LPAR4 ENST00000373301 human ensembl 69_37n +1 known missense c.388 p.T130P 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2Y5_purnocptor,prints_P2_purnocptor - no_errors LPAR4 HGNC ENSG00000147145 293 0 0.00 191 37 16.23 - - - LPCAT4 0 genome.wustl.edu 37 15 34652394 34652394 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 34652394 34652394 A C SNP LPCAT4 ENST00000314891 human ensembl 69_37n -1 known missense c.1160 p.V387G 1.000 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors LPCAT4 HGNC ENSG00000176454 160 0 0.00 168 24 12.50 - - - LPHN2 0 genome.wustl.edu 37 1 82432276 82432276 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 82432276 82432276 A C SNP LPHN2 ENST00000370717 human ensembl 69_37n +1 known missense c.2320 p.T774P 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 199 1 0.50 154 38 19.69 - - - LPP 0 genome.wustl.edu 37 3 188202462 188202462 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 188202462 188202462 A C SNP LPP ENST00000312675 human ensembl 69_37n +1 known silent c.276 p.P92 0.295 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 201 1 0.50 163 29 15.03 - - - LPPR4 0 genome.wustl.edu 37 1 99771737 99771737 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 99771737 99771737 T G SNP LPPR4 ENST00000370185 human ensembl 69_37n +1 known missense c.1463 p.V488G 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors RP4-788L13.1 Clone_based_vega_gene ENSG00000117600 300 0 0.00 133 27 16.88 - - - LPPR4 0 genome.wustl.edu 37 1 99771910 99771910 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 99771910 99771910 A C SNP LPPR4 ENST00000370185 human ensembl 69_37n +1 known missense c.1636 p.T546P 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors RP4-788L13.1 Clone_based_vega_gene ENSG00000117600 283 1 0.35 135 29 17.68 - - - LPXN 0 genome.wustl.edu 37 11 58317479 58317479 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 58317479 58317479 T G SNP LPXN ENST00000528954 human ensembl 69_37n -1 known silent c.642 p.P214 0.005 pirsf_Leupaxin,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors LPXN HGNC ENSG00000110031 239 0 0.00 213 35 14.11 - - - LRBA 0 genome.wustl.edu 37 4 151749400 151749400 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 151749400 151749400 T G SNP LRBA ENST00000509835 human ensembl 69_37n -1 novel missense c.1061 p.H354P 0.973 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LRBA HGNC ENSG00000198589 262 2 0.75 226 72 23.92 - - - LRCH1 0 genome.wustl.edu 37 13 47315872 47315872 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 47315872 47315872 A C SNP LRCH1 ENST00000389798 human ensembl 69_37n +1 known silent c.2076 p.P692 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 446 3 0.67 330 55 14.21 - - - LRCH1 0 genome.wustl.edu 37 13 47315875 47315875 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 47315875 47315875 A C SNP LRCH1 ENST00000389798 human ensembl 69_37n +1 known silent c.2079 p.P693 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 456 0 0.00 324 53 14.06 - - - LRCH4 0 genome.wustl.edu 37 7 100173335 100173335 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 100173335 100173335 A C SNP LRCH4 ENST00000310300 human ensembl 69_37n -1 known missense c.1847 p.V616G 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH4 HGNC ENSG00000077454 122 1 0.81 82 18 18.00 - - - LRFN5 0 genome.wustl.edu 37 14 42356629 42356629 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 42356629 42356629 A C SNP LRFN5 ENST00000298119 human ensembl 69_37n +1 known silent c.801 p.P267 0.999 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN5 HGNC ENSG00000165379 167 0 0.00 135 19 12.34 - - - LRIG3 0 genome.wustl.edu 37 12 59283813 59283813 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 59283813 59283813 T G SNP LRIG3 ENST00000320743 human ensembl 69_37n -1 known silent c.624 p.P208 0.111 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG3 HGNC ENSG00000139263 249 0 0.00 153 22 12.50 - - - LRP11 0 genome.wustl.edu 37 6 150164229 150164229 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 150164229 150164229 T G SNP LRP11 ENST00000239367 human ensembl 69_37n -1 known missense c.803 p.H268P 1.000 superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom - no_errors LRP11 HGNC ENSG00000120256 67 0 0.00 49 10 16.95 - - - LRP1B 0 genome.wustl.edu 37 2 141093364 141093364 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 141093364 141093364 A C SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known missense c.11936 p.V3979G 1.000 superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 166 1 0.60 149 17 10.18 - - - LRP1B 0 genome.wustl.edu 37 2 141259275 141259275 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 141259275 141259275 T G SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known missense c.8831 p.D2944A 1.000 superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 140 0 0.00 77 18 18.95 - - - LRP2 0 genome.wustl.edu 37 2 169989105 169989105 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 169989105 169989105 T G SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known silent c.13707 p.S4569 0.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 392 2 0.51 299 50 14.33 - - - LRP6 0 genome.wustl.edu 37 12 12312835 12312835 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 12312835 12312835 A C SNP LRP6 ENST00000261349 human ensembl 69_37n -1 known missense c.2343 p.S781R 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 198 0 0.00 158 32 16.84 - - - LRP8 0 genome.wustl.edu 37 1 53728124 53728124 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 53728124 53728124 T G SNP LRP8 ENST00000306052 human ensembl 69_37n -1 known missense c.1768 p.T590P 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,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP8 HGNC ENSG00000157193 196 2 0.99 149 41 21.35 - - - LRRC1 0 genome.wustl.edu 37 6 53787580 53787580 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 53787580 53787580 A C SNP LRRC1 ENST00000370888 human ensembl 69_37n +1 known missense c.1564 p.T522P 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 306 0 0.00 234 36 13.24 - - - LRRC15 0 genome.wustl.edu 37 3 194080541 194080541 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 194080541 194080541 T G SNP LRRC15 ENST00000439944 human ensembl 69_37n -1 known missense c.1250 p.H417P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 34 0 0.00 28 9 24.32 - - - LRRC16A 0 genome.wustl.edu 37 6 25479371 25479371 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 25479371 25479371 A C SNP LRRC16A ENST00000377969 human ensembl 69_37n +1 known missense c.427 p.T143P 0.000 NULL NULL - no_errors LRRC16A HGNC ENSG00000079691 691 0 0.00 519 64 10.98 - - - LRRC2 0 genome.wustl.edu 37 3 46592987 46592987 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 46592987 46592987 A C SNP LRRC2 ENST00000296144 human ensembl 69_37n -1 known missense c.95 p.V32G 0.131 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC2 HGNC ENSG00000163827 124 0 0.00 115 21 15.44 - - - LRRC28 0 genome.wustl.edu 37 15 99926272 99926272 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 99926272 99926272 A C SNP LRRC28 ENST00000301981 human ensembl 69_37n +1 known missense c.1069 p.T357P 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC28 HGNC ENSG00000168904 386 1 0.26 418 63 13.07 - - - LRRC37A3 0 genome.wustl.edu 37 17 62857046 62857046 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 62857046 62857046 A C SNP LRRC37A3 ENST00000319651 human ensembl 69_37n -1 known missense c.3218 p.V1073G 0.067 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 292 0 0.00 295 49 14.24 - - - LRRC37A6P 0 genome.wustl.edu 37 10 27538295 27538295 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 27538295 27538295 T G SNP LRRC37A6P ENST00000284414 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors LRRC37A6P HGNC ENSG00000230445 271 0 0.00 153 27 15.00 - - - LRRC55 0 genome.wustl.edu 37 11 56949383 56949383 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 56949383 56949383 A C SNP LRRC55 ENST00000497933 human ensembl 69_37n +1 known missense c.16 p.T6P 0.997 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC55 HGNC ENSG00000183908 51 0 0.00 65 15 18.29 - - - LRRC7 0 genome.wustl.edu 37 1 70300497 70300497 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 70300497 70300497 A C SNP LRRC7 ENST00000035383 human ensembl 69_37n +1 known missense c.421 p.T141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 205 1 0.49 134 23 14.56 - - - LRRC8A 0 genome.wustl.edu 37 9 131669696 131669696 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 131669696 131669696 A C SNP LRRC8A ENST00000259324 human ensembl 69_37n +1 known missense c.253 p.T85P 0.998 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 39 0 0.00 26 4 13.33 - - - LRRC8C 0 genome.wustl.edu 37 1 90178515 90178515 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 90178515 90178515 A C SNP LRRC8C ENST00000370454 human ensembl 69_37n +1 known missense c.386 p.Y129S 1.000 pfam_LRR_protein-8_N pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 265 0 0.00 133 24 15.19 - - - LRRIQ1 0 genome.wustl.edu 37 12 85450905 85450905 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 85450905 85450905 A C SNP LRRIQ1 ENST00000393217 human ensembl 69_37n +1 known silent c.2334 p.T778 0.993 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 484 0 0.00 409 70 14.58 - - - LRRK1 0 genome.wustl.edu 37 15 101605944 101605944 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 101605944 101605944 A C SNP LRRK1 ENST00000388948 human ensembl 69_37n +1 known missense c.5302 p.T1768P 0.994 superfamily_WD40_repeat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC ENSG00000154237 59 0 0.00 35 6 14.63 - - - LRTM1 0 genome.wustl.edu 37 3 54952523 54952523 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 54952523 54952523 A C SNP LRTM1 ENST00000273286 human ensembl 69_37n -1 known missense c.1001 p.V334G 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 273 2 0.72 166 26 13.54 - - - LTA 0 genome.wustl.edu 37 6 31541421 31541421 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 31541421 31541421 A C SNP LTA ENST00000418386 human ensembl 69_37n +1 known missense c.569 p.H190P 0.934 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c - no_errors LTA HGNC ENSG00000226979 147 1 0.68 99 33 24.81 - - - LTBP3 0 genome.wustl.edu 37 11 65310655 65310655 + Nonstop_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 65310655 65310655 A C SNP LTBP3 ENST00000526927 human ensembl 69_37n -1 novel nonstop c.1468 p.*490G 0.997 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LTBP3 HGNC ENSG00000168056 187 0 0.00 105 25 19.08 - - - LUZP1 0 genome.wustl.edu 37 1 23418054 23418054 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 23418054 23418054 A C SNP LUZP1 ENST00000302291 human ensembl 69_37n -1 known missense c.2701 p.W901G 1.000 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 210 0 0.00 206 26 11.06 - - - LUZP1 0 genome.wustl.edu 37 1 23418278 23418278 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 23418278 23418278 A C SNP LUZP1 ENST00000302291 human ensembl 69_37n -1 known missense c.2477 p.V826G 0.997 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 165 0 0.00 126 24 16.00 - - - LUZP1 0 genome.wustl.edu 37 1 23419215 23419215 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 23419215 23419215 T G SNP LUZP1 ENST00000302291 human ensembl 69_37n -1 known missense c.1540 p.T514P 0.000 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 315 0 0.00 265 37 12.13 - - - LUZP1 0 genome.wustl.edu 37 1 23419978 23419978 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 23419978 23419978 A C SNP LUZP1 ENST00000302291 human ensembl 69_37n -1 known silent c.777 p.G259 0.006 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 196 0 0.00 135 38 21.97 - - - LY6G6F 0 genome.wustl.edu 37 6 31678347 31678347 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 31678347 31678347 A C SNP LY6G6F ENST00000375832 human ensembl 69_37n +1 known silent c.873 p.P291 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors LY6G6F HGNC ENSG00000204424 140 0 0.00 101 16 13.68 - - - MAB21L1 0 genome.wustl.edu 37 13 36049385 36049385 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 36049385 36049385 A C SNP MAB21L1 ENST00000379919 human ensembl 69_37n -1 known silent c.891 p.G297 0.136 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 126 0 0.00 84 15 15.00 - - - MACC1 0 genome.wustl.edu 37 7 20198913 20198913 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 20198913 20198913 T G SNP MACC1 ENST00000332878 human ensembl 69_37n -1 known silent c.1071 p.S357 0.295 NULL pfam_SH3_2,superfamily_DEATH-like - no_errors MACC1 HGNC ENSG00000183742 123 0 0.00 68 20 22.47 - - - MACF1 0 genome.wustl.edu 37 1 39799604 39799604 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 39799604 39799604 T G SNP MACF1 ENST00000567887 human ensembl 69_37n +1 putative silent c.7455 p.G2485 0.990 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 175 0 0.00 100 20 16.53 - - - MAGEA10 0 genome.wustl.edu 37 X 151303738 151303738 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 151303738 151303738 T G SNP MAGEA10 ENST00000244096 human ensembl 69_37n -1 known missense c.355 p.T119P 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA10 HGNC ENSG00000124260 159 1 0.62 85 19 18.10 - - - MAGEA12 0 genome.wustl.edu 37 X 151899895 151899895 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 151899895 151899895 T G SNP MAGEA12 ENST00000357916 human ensembl 69_37n -1 known silent c.906 p.P302 0.005 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 310 3 0.95 270 37 11.90 - - - MAGEA12 0 genome.wustl.edu 37 X 151899938 151899938 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 151899938 151899938 T G SNP MAGEA12 ENST00000357916 human ensembl 69_37n -1 known missense c.863 p.H288P 0.001 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 348 1 0.29 295 34 10.30 - - - MAGEA12 0 genome.wustl.edu 37 X 151900304 151900304 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 151900304 151900304 A C SNP MAGEA12 ENST00000357916 human ensembl 69_37n -1 known missense c.497 p.V166G 0.324 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 294 0 0.00 253 39 13.31 - - - MAGEA3 0 genome.wustl.edu 37 X 151935261 151935261 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 151935261 151935261 T G SNP MAGEA3 ENST00000370278 human ensembl 69_37n -1 known silent c.906 p.P302 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 215 1 0.46 170 38 18.18 - - - MAGEA4 0 genome.wustl.edu 37 X 151092213 151092213 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 151092213 151092213 T G SNP MAGEA4 ENST00000276344 human ensembl 69_37n +1 known missense c.77 p.V26G 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA4 HGNC ENSG00000147381 32 0 0.00 48 10 16.95 - - - MAGEB1 0 genome.wustl.edu 37 X 30269359 30269359 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 30269359 30269359 T G SNP MAGEB1 ENST00000378981 human ensembl 69_37n +1 known missense c.749 p.V250G 0.118 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 140 0 0.00 131 16 10.81 - - - MAGEB1 0 genome.wustl.edu 37 X 30269644 30269644 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 30269644 30269644 A C SNP MAGEB1 ENST00000378981 human ensembl 69_37n +1 known missense c.1034 p.H345P 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 128 0 0.00 84 19 18.45 - - - MAGEC1 0 genome.wustl.edu 37 X 140995925 140995925 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 140995925 140995925 T G SNP MAGEC1 ENST00000285879 human ensembl 69_37n +1 known missense c.2735 p.V912G 0.002 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 350 0 0.00 216 34 13.44 - - - MAGEC2 0 genome.wustl.edu 37 X 141291001 141291001 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 141291001 141291001 A C SNP MAGEC2 ENST00000247452 human ensembl 69_37n -1 known missense c.773 p.V258G 0.018 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 538 1 0.19 483 68 12.32 - - - MAGEE2 0 genome.wustl.edu 37 X 75004014 75004014 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 75004014 75004014 A C SNP MAGEE2 ENST00000373359 human ensembl 69_37n -1 known silent c.873 p.G291 0.053 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 183 0 0.00 174 22 11.17 - - - MAGI1 0 genome.wustl.edu 37 3 65349154 65349154 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 65349154 65349154 A C SNP MAGI1 ENST00000402939 human ensembl 69_37n -1 known missense c.3481 p.C1161G 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_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 612 0 0.00 449 78 14.72 - - - MAGI1 0 genome.wustl.edu 37 3 65415333 65415333 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 65415333 65415333 A C SNP MAGI1 ENST00000402939 human ensembl 69_37n -1 known missense c.2029 p.C677G 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_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 170 1 0.58 131 34 20.48 - - - MAGI3 0 genome.wustl.edu 37 1 114196630 114196630 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 114196630 114196630 A C SNP MAGI3 ENST00000369611 human ensembl 69_37n +1 known silent c.2619 p.P873 0.321 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_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 MAGI3 HGNC ENSG00000081026 280 2 0.70 133 46 25.70 - - - MALAT1 0 genome.wustl.edu 37 11 65268712 65268712 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 65268712 65268712 T G SNP MALAT1 ENST00000534336 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 38 0 0.00 17 20 54.05 - - - MAML3 0 genome.wustl.edu 37 4 140810736 140810736 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 140810736 140810736 T G SNP MAML3 ENST00000509479 human ensembl 69_37n -1 known silent c.1854 p.P618 0.004 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 501 3 0.59 363 48 11.59 - - - MAN2A1 0 genome.wustl.edu 37 5 109091066 109091066 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 109091066 109091066 T G SNP MAN2A1 ENST00000261483 human ensembl 69_37n +1 known silent c.744 p.G248 1.000 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC ENSG00000112893 186 1 0.53 132 20 13.07 - - - MAN2B1 0 genome.wustl.edu 37 19 12757534 12757534 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 12757534 12757534 T G SNP MAN2B1 ENST00000456935 human ensembl 69_37n -1 known missense c.2936 p.H979P 0.000 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 44 0 0.00 21 5 19.23 - - - MAP1A 0 genome.wustl.edu 37 15 43821329 43821329 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 43821329 43821329 A C SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known missense c.7658 p.H2553P 0.971 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 46 0 0.00 31 13 29.55 - - - MAP1B 0 genome.wustl.edu 37 5 71490945 71490945 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 71490945 71490945 T G SNP MAP1B ENST00000296755 human ensembl 69_37n +1 known missense c.1763 p.V588G 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 246 2 0.80 198 34 14.17 - - - MAP1B 0 genome.wustl.edu 37 5 71495041 71495041 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 71495041 71495041 T G SNP MAP1B ENST00000296755 human ensembl 69_37n +1 known silent c.5859 p.G1953 0.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 409 2 0.49 410 49 10.68 - - - MAP2 0 genome.wustl.edu 37 2 210560850 210560850 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 210560850 210560850 T G SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known missense c.3956 p.V1319G 0.950 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 192 1 0.51 143 21 12.80 - - - MAP2 0 genome.wustl.edu 37 2 210565008 210565008 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 210565008 210565008 T G SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known silent c.4530 p.G1510 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 162 0 0.00 125 21 14.29 - - - MAP2 0 genome.wustl.edu 37 2 210569294 210569294 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 210569294 210569294 A C SNP MAP2 ENST00000199940 human ensembl 69_37n +1 known missense c.637 p.T213P 0.997 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 252 0 0.00 144 23 13.77 - - - MAP3K15 0 genome.wustl.edu 37 X 19392777 19392777 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 19392777 19392777 A C SNP MAP3K15 ENST00000338883 human ensembl 69_37n -1 known missense c.2591 p.V864G 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,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC ENSG00000180815 108 1 0.90 135 26 16.15 - - - MAP4 0 genome.wustl.edu 37 3 47957818 47957818 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 47957818 47957818 A C SNP MAP4 ENST00000360240 human ensembl 69_37n -1 known missense c.1499 p.V500G 0.012 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 250 0 0.00 264 37 12.17 - - - MAP4 0 genome.wustl.edu 37 3 47958502 47958502 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 47958502 47958502 A C SNP MAP4 ENST00000360240 human ensembl 69_37n -1 known missense c.815 p.V272G 0.000 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 388 2 0.51 405 77 15.91 - - - MAP4K4 0 genome.wustl.edu 37 2 102480377 102480377 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 102480377 102480377 A C SNP MAP4K4 ENST00000324219 human ensembl 69_37n +1 known missense c.1961 p.H654P 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K4 HGNC ENSG00000071054 371 1 0.27 285 34 10.66 - - - MAP4K4 0 genome.wustl.edu 37 2 102480405 102480405 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 102480405 102480405 A C SNP MAP4K4 ENST00000421882 human ensembl 69_37n +1 novel missense c.1207 p.T403P 1.000 superfamily_Kinase-like_dom pfam_Citron,superfamily_Kinase-like_dom,smart_Citron - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MAP4K4 HGNC ENSG00000071054 294 3 1.00 220 39 15.00 - - - MAP7D2 0 genome.wustl.edu 37 X 20060746 20060746 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 20060746 20060746 A C SNP MAP7D2 ENST00000379643 human ensembl 69_37n -1 known missense c.881 p.V294G 0.007 NULL pfam_E-MAP-115 - no_errors MAP7D2 HGNC ENSG00000184368 310 0 0.00 231 60 20.41 - - - MAPKAPK3 0 genome.wustl.edu 37 3 50677900 50677900 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 50677900 50677900 A C SNP MAPKAPK3 ENST00000357955 human ensembl 69_37n +1 known missense c.323 p.H108P 0.998 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPKAPK3 HGNC ENSG00000114738 155 1 0.64 133 19 12.34 - - - MAPKAPK3 0 genome.wustl.edu 37 3 50679147 50679147 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 50679147 50679147 T G SNP MAPKAPK3 ENST00000357955 human ensembl 69_37n +1 known silent c.369 p.G123 0.986 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPKAPK3 HGNC ENSG00000114738 49 0 0.00 38 16 29.63 - - - MAPT 0 genome.wustl.edu 37 17 44067366 44067366 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 44067366 44067366 A C SNP MAPT ENST00000344290 human ensembl 69_37n +1 known silent c.1305 p.P435 0.906 NULL pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein - no_errors MAPT HGNC ENSG00000186868 243 1 0.41 303 71 18.83 - - - MARCH7 0 genome.wustl.edu 37 2 160605208 160605208 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 160605208 160605208 T G SNP MARCH7 ENST00000259050 human ensembl 69_37n +1 known silent c.1407 p.G469 0.993 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 192 1 0.52 176 23 11.50 - - - MARK2 0 genome.wustl.edu 37 11 63667415 63667415 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 63667415 63667415 A C SNP MARK2 ENST00000402010 human ensembl 69_37n +1 known missense c.601 p.T201P 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,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 273 0 0.00 167 25 13.02 - - - MARK2 0 genome.wustl.edu 37 11 63667506 63667506 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 63667506 63667506 T G SNP MARK2 ENST00000402010 human ensembl 69_37n +1 known missense c.692 p.V231G 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 256 1 0.39 185 27 12.68 - - - MARS 0 genome.wustl.edu 37 12 57892008 57892008 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 57892008 57892008 A C SNP MARS ENST00000262027 human ensembl 69_37n +1 known missense c.839 p.H280P 1.000 pfam_Methionyl/Leucyl_tRNA_Synth,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 72 0 0.00 85 13 13.13 - - - MAST2 0 genome.wustl.edu 37 1 46463447 46463447 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 46463447 46463447 A C SNP MAST2 ENST00000361297 human ensembl 69_37n +1 known missense c.644 p.H215P 1.000 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST2 HGNC ENSG00000086015 156 0 0.00 172 23 11.73 - - - MAST2 0 genome.wustl.edu 37 1 46487647 46487647 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 46487647 46487647 A C SNP MAST2 ENST00000361297 human ensembl 69_37n +1 known missense c.1316 p.H439P 1.000 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST2 HGNC ENSG00000086015 205 0 0.00 232 66 21.85 - - - MAST2 0 genome.wustl.edu 37 1 46494512 46494512 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 46494512 46494512 T G SNP MAST2 ENST00000361297 human ensembl 69_37n +1 known missense c.2125 p.W709G 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,pfscan_Prot_kinase_cat_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST2 HGNC ENSG00000086015 101 0 0.00 76 13 14.61 - - - MATR3 0 genome.wustl.edu 37 5 138661011 138661011 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 138661011 138661011 T G SNP MATR3 ENST00000394800 human ensembl 69_37n +1 novel silent c.2175 p.G725 1.000 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors MATR3 HGNC ENSG00000015479 47 0 0.00 40 12 23.08 - - - MAVS 0 genome.wustl.edu 37 20 3844922 3844922 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 3844922 3844922 A C SNP MAVS ENST00000428216 human ensembl 69_37n +1 known silent c.645 p.T215 0.000 NULL NULL - no_errors MAVS HGNC ENSG00000088888 35 0 0.00 43 14 24.56 - - - MBIP 0 genome.wustl.edu 37 14 36768299 36768299 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 36768299 36768299 T G SNP MBIP ENST00000416007 human ensembl 69_37n -1 known missense c.1025 p.H342P 1.000 NULL NULL - no_errors MBIP HGNC ENSG00000151332 342 1 0.29 170 56 24.78 - - - MBIP 0 genome.wustl.edu 37 14 36768302 36768302 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 36768302 36768302 T G SNP MBIP ENST00000416007 human ensembl 69_37n -1 known missense c.1022 p.H341P 0.995 NULL NULL - no_errors MBIP HGNC ENSG00000151332 346 0 0.00 181 44 19.47 - - - MBL2 0 genome.wustl.edu 37 10 54527932 54527932 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 54527932 54527932 T G SNP MBL2 ENST00000373968 human ensembl 69_37n -1 known missense c.712 p.T238P 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors MBL2 HGNC ENSG00000165471 324 3 0.91 216 42 16.15 - - - MBOAT1 0 genome.wustl.edu 37 6 20124753 20124753 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 20124753 20124753 T G SNP MBOAT1 ENST00000324607 human ensembl 69_37n -1 known missense c.793 p.T265P 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 352 0 0.00 274 33 10.71 - - - MBOAT1 0 genome.wustl.edu 37 6 20126778 20126778 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 20126778 20126778 A C SNP MBOAT1 ENST00000324607 human ensembl 69_37n -1 known silent c.684 p.G228 0.099 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 548 0 0.00 362 41 10.17 - - - MC3R 0 genome.wustl.edu 37 20 54823961 54823961 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 54823961 54823961 T C SNP MC3R ENST00000243911 human ensembl 69_37n +1 known missense c.62 p.L21P 0.000 prints_Mcort_3_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 276 0 0.00 263 37 12.29 - - - MCC 0 genome.wustl.edu 37 5 112406842 112406842 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 112406842 112406842 A C SNP MCC ENST00000302475 human ensembl 69_37n -1 known missense c.1304 p.V435G 1.000 pfam_USH1C-bd_PDZ_domain pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 263 0 0.00 201 30 12.99 - - - MCC 0 genome.wustl.edu 37 5 112437573 112437573 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 112437573 112437573 A C SNP MCC ENST00000302475 human ensembl 69_37n -1 known missense c.691 p.W231G 0.996 superfamily_tRNA-bd_arm pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 202 1 0.49 139 21 13.12 - - - MCF2L2 0 genome.wustl.edu 37 3 183013094 183013094 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 183013094 183013094 T G SNP MCF2L2 ENST00000328913 human ensembl 69_37n -1 known missense c.1669 p.T557P 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 170 0 0.00 296 48 13.95 - - - MCHR1 0 genome.wustl.edu 37 22 41077396 41077396 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 41077396 41077396 A C SNP MCHR1 ENST00000249016 human ensembl 69_37n +1 known missense c.733 p.T245P 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_MCH1_rcpt,prints_MCH_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors MCHR1 HGNC ENSG00000128285 115 1 0.85 75 14 15.73 - - - MCM3AP 0 genome.wustl.edu 37 21 47665080 47665080 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 47665080 47665080 T G SNP MCM3AP ENST00000291688 human ensembl 69_37n -1 known missense c.4679 p.H1560P 0.296 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 53 0 0.00 68 11 13.92 - - - MCM7 0 genome.wustl.edu 37 7 99691849 99691849 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 99691849 99691849 T G SNP MCM7 ENST00000303887 human ensembl 69_37n -1 known missense c.1795 p.T599P 1.000 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 72 0 0.00 66 21 24.14 - - - MDC1 0 genome.wustl.edu 37 6 30672585 30672585 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 30672585 30672585 T G SNP MDC1 ENST00000376406 human ensembl 69_37n -1 known missense c.4375 p.T1459P 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 214 2 0.92 183 33 15.28 - - - MDC1 0 genome.wustl.edu 37 6 30672810 30672810 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 30672810 30672810 T G SNP MDC1 ENST00000376406 human ensembl 69_37n -1 known missense c.4150 p.T1384P 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 248 0 0.00 224 35 13.46 - - - MDC1 0 genome.wustl.edu 37 6 30672954 30672954 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 30672954 30672954 T G SNP MDC1 ENST00000376406 human ensembl 69_37n -1 known missense c.4006 p.T1336P 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 314 2 0.63 282 50 15.06 - - - MDC1 0 genome.wustl.edu 37 6 30673816 30673816 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 30673816 30673816 T G SNP MDC1 ENST00000417033 human ensembl 69_37n -1 known missense c.325 p.T109P 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MDC1 HGNC ENSG00000137337 193 1 0.52 186 21 10.10 - - - MDC1 0 genome.wustl.edu 37 6 30675209 30675209 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 30675209 30675209 T G SNP MDC1 ENST00000417033 human ensembl 69_37n -1 known missense c.217 p.T73P 0.001 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MDC1 HGNC ENSG00000137337 264 0 0.00 258 38 12.71 - - - MDC1 0 genome.wustl.edu 37 6 30675885 30675885 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 30675885 30675885 A C SNP MDC1 ENST00000376406 human ensembl 69_37n -1 known missense c.2471 p.V824G 0.059 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 660 4 0.60 576 107 15.67 - - - MDC1 0 genome.wustl.edu 37 6 30680193 30680193 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 30680193 30680193 T G SNP MDC1 ENST00000376406 human ensembl 69_37n -1 known missense c.1526 p.H509P 0.122 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 201 2 0.99 155 26 14.21 - - - MDC1 0 genome.wustl.edu 37 6 30680999 30680999 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 30680999 30680999 A C SNP MDC1 ENST00000376406 human ensembl 69_37n -1 known silent c.720 p.G240 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 197 0 0.00 146 22 12.94 - - - MDN1 0 genome.wustl.edu 37 6 90504309 90504309 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 90504309 90504309 T G SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known missense c.541 p.T181P 1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 106 0 0.00 90 19 17.43 - - - ME2 0 genome.wustl.edu 37 18 48473745 48473745 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 48473745 48473745 A C SNP ME2 ENST00000585680 human ensembl 69_37n +1 known rna NULL NULL 0.007 - - - no_errors ME2 HGNC ENSG00000082212 31 0 0.00 22 6 21.43 - - - MED12 0 genome.wustl.edu 37 X 70345253 70345253 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 70345253 70345253 T G SNP MED12 ENST00000333646 human ensembl 69_37n +1 known missense c.2279 p.V760G 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 116 1 0.85 100 27 21.26 - - - MED13 0 genome.wustl.edu 37 17 60088225 60088225 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 60088225 60088225 T G SNP MED13 ENST00000583958 human ensembl 69_37n -1 putative missense c.631 p.T211P 0.998 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MED13 HGNC ENSG00000108510 136 0 0.00 144 17 10.49 - - - MED13L 0 genome.wustl.edu 37 12 116403979 116403979 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 116403979 116403979 A C SNP MED13L ENST00000281928 human ensembl 69_37n -1 known missense c.6295 p.Y2099D 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 259 2 0.76 126 44 25.88 - - - MED17 0 genome.wustl.edu 37 11 93527179 93527179 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 93527179 93527179 A C SNP MED17 ENST00000251871 human ensembl 69_37n +1 known silent c.837 p.R279 0.754 pfam_Mediator_Med17 pfam_Mediator_Med17 - no_errors MED17 HGNC ENSG00000042429 106 0 0.00 96 15 13.39 - - - MED23 0 genome.wustl.edu 37 6 131948548 131948548 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 131948548 131948548 A C SNP MED23 ENST00000368058 human ensembl 69_37n -1 known silent c.147 p.G49 0.998 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 298 3 1.00 205 33 13.87 - - - MED8 0 genome.wustl.edu 37 1 43852650 43852650 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 43852650 43852650 A C SNP MED8 ENST00000290663 human ensembl 69_37n -1 known missense c.290 p.V97G 0.999 pfam_Mediatior_Med8_fun/met pfam_Mediatior_Med8_fun/met - no_errors MED8 HGNC ENSG00000159479 280 2 0.71 180 24 11.65 - - - MEGF8 0 genome.wustl.edu 37 19 42837885 42837885 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 42837885 42837885 A C SNP MEGF8 ENST00000251268 human ensembl 69_37n +1 known missense c.316 p.T106P 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 113 1 0.86 83 19 18.45 - - - MEI1 0 genome.wustl.edu 37 22 42177506 42177506 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 42177506 42177506 T G SNP MEI1 ENST00000476893 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MEI1 HGNC ENSG00000167077 18 0 0.00 16 5 23.81 - - - MEIS2 0 genome.wustl.edu 37 15 37184468 37184468 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 37184468 37184468 T G SNP MEIS2 ENST00000561208 human ensembl 69_37n -1 known missense c.1340 p.H447P 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS2 HGNC ENSG00000134138 299 1 0.33 232 37 13.65 - - - MEPE 0 genome.wustl.edu 37 4 88767250 88767250 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 88767250 88767250 T G SNP MEPE ENST00000361056 human ensembl 69_37n +1 known silent c.1230 p.G410 0.000 NULL pfam_Osteoregulin - no_errors MEPE HGNC ENSG00000152595 107 0 0.00 119 19 13.67 - - - MESDC2 0 genome.wustl.edu 37 15 81271727 81271727 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 81271727 81271727 A C SNP MESDC2 ENST00000261758 human ensembl 69_37n -1 known missense c.538 p.C180G 1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 138 0 0.00 128 20 13.42 - - - MET 0 genome.wustl.edu 37 7 116380977 116380977 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 116380977 116380977 A C SNP MET ENST00000318493 human ensembl 69_37n +1 known silent c.1599 p.P533 0.092 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom - no_errors MET HGNC ENSG00000105976 271 2 0.72 223 51 18.61 - - - METTL21B 0 genome.wustl.edu 37 12 58166858 58166858 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 58166858 58166858 T G SNP METTL21B ENST00000552307 human ensembl 69_37n +1 known splice_site c.NULL NULL 1.000 - - - no_errors METTL21B HGNC ENSG00000123427 114 0 0.00 69 18 20.69 - - - MFAP3 0 genome.wustl.edu 37 5 153432988 153432988 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 153432988 153432988 T G SNP MFAP3 ENST00000322602 human ensembl 69_37n +1 known silent c.804 p.G268 0.787 NULL pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MFAP3 HGNC ENSG00000037749 153 0 0.00 118 21 15.11 - - - MFSD2A 0 genome.wustl.edu 37 1 40424374 40424374 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 40424374 40424374 T G SNP MFSD2A ENST00000372809 human ensembl 69_37n +1 known missense c.269 p.V90G 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2A HGNC ENSG00000168389 329 0 0.00 272 34 11.07 - - - MGA 0 genome.wustl.edu 37 15 41961516 41961516 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 41961516 41961516 T G SNP MGA ENST00000219905 human ensembl 69_37n +1 known missense c.424 p.W142G 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 527 0 0.00 411 47 10.24 - - - MGA 0 genome.wustl.edu 37 15 41961559 41961559 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 41961559 41961559 T G SNP MGA ENST00000219905 human ensembl 69_37n +1 known missense c.467 p.V156G 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 502 5 0.99 417 56 11.84 - - - MGA 0 genome.wustl.edu 37 15 42035244 42035244 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 42035244 42035244 A C SNP MGA ENST00000219905 human ensembl 69_37n +1 known missense c.5086 p.T1696P 1.000 NULL pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 91 0 0.00 71 15 17.44 - - - MGAM 0 genome.wustl.edu 37 7 141708489 141708489 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 141708489 141708489 A C SNP MGAM ENST00000549489 human ensembl 69_37n +1 known missense c.311 p.D104A 1.000 pfam_P_trefoil,smart_P_trefoil pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 157 0 0.00 100 27 21.26 - - - MGAT5B 0 genome.wustl.edu 37 17 74943931 74943931 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 74943931 74943931 A C SNP MGAT5B ENST00000428789 human ensembl 69_37n +1 known missense c.1970 p.D657A 0.105 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MGAT5B HGNC ENSG00000167889 37 0 0.00 15 5 25.00 - - - MIB1 0 genome.wustl.edu 37 18 19371401 19371401 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 19371401 19371401 T G SNP MIB1 ENST00000261537 human ensembl 69_37n +1 known silent c.975 p.G325 1.000 NULL pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ - no_errors MIB1 HGNC ENSG00000101752 168 0 0.00 201 37 15.55 - - - MICALCL 0 genome.wustl.edu 37 11 12315232 12315232 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 12315232 12315232 A C SNP MICALCL ENST00000256186 human ensembl 69_37n +1 known missense c.254 p.H85P 0.000 NULL pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ - no_errors MICALCL HGNC ENSG00000133808 294 1 0.34 360 63 14.82 - - - MICALCL 0 genome.wustl.edu 37 11 12316064 12316064 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 12316064 12316064 A C SNP MICALCL ENST00000256186 human ensembl 69_37n +1 known silent c.1086 p.P362 0.000 NULL pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ - no_errors MICALCL HGNC ENSG00000133808 233 0 0.00 352 49 12.13 - - - MIR1289-1 0 genome.wustl.edu 37 20 34041796 34041796 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 34041796 34041796 A C SNP MIR1289-1 ENST00000408836 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MIR1289-1 HGNC ENSG00000221763 72 0 0.00 48 14 22.58 - - - MIR383 0 genome.wustl.edu 37 8 14710986 14710986 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 14710986 14710986 A C SNP MIR383 ENST00000362257 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors MIR383 HGNC ENSG00000199127 148 0 0.00 93 20 17.70 - - - MIR489 0 genome.wustl.edu 37 7 93113319 93113319 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 93113319 93113319 A C SNP MIR489 ENST00000384923 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors MIR489 HGNC ENSG00000207656 176 0 0.00 110 23 17.29 - - - MIR623 0 genome.wustl.edu 37 13 100008475 100008475 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 100008475 100008475 A C SNP MIR623 ENST00000384986 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MIR623 HGNC ENSG00000207719 305 0 0.00 311 45 12.53 - - - MIR7-3HG 0 genome.wustl.edu 37 19 4770609 4770609 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 4770609 4770609 T G SNP MIR7-3HG ENST00000588923 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors MIR7-3HG HGNC ENSG00000176840 110 1 0.89 101 41 28.47 - - - MKI67 0 genome.wustl.edu 37 10 129899721 129899721 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 129899721 129899721 A C SNP MKI67 ENST00000368654 human ensembl 69_37n -1 known missense c.9506 p.V3169G 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 145 0 0.00 148 18 10.78 - - - MKI67 0 genome.wustl.edu 37 10 129905185 129905185 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 129905185 129905185 A C SNP MKI67 ENST00000368654 human ensembl 69_37n -1 known missense c.4919 p.V1640G 0.021 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 370 0 0.00 609 71 10.36 - - - MKL2 0 genome.wustl.edu 37 16 14334207 14334207 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 14334207 14334207 T G SNP MKL2 ENST00000341243 human ensembl 69_37n +1 known silent c.912 p.G304 0.579 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC ENSG00000186260 264 0 0.00 235 48 16.90 - - - MKRN3 0 genome.wustl.edu 37 15 23811878 23811878 + Missense_Mutation SNP G G T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 23811878 23811878 G T SNP MKRN3 ENST00000314520 human ensembl 69_37n +1 known missense c.949 p.V317F 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 52 0 0.00 61 19 23.75 - - - MLH3 0 genome.wustl.edu 37 14 75489583 75489583 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 75489583 75489583 T G SNP MLH3 ENST00000355774 human ensembl 69_37n -1 known missense c.4024 p.T1342P 1.000 pfam_MutL_C,smart_MutL_C pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 224 0 0.00 221 25 10.08 - - - MLL 0 genome.wustl.edu 37 11 118343656 118343656 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 118343656 118343656 A C SNP MLL ENST00000389506 human ensembl 69_37n +1 known silent c.1782 p.S594 0.998 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 131 1 0.75 121 26 17.45 - - - MLL 0 genome.wustl.edu 37 11 118352528 118352528 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 118352528 118352528 A C SNP MLL ENST00000389506 human ensembl 69_37n +1 known missense c.3733 p.T1245P 0.001 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 192 1 0.52 153 18 10.53 - - - MLL 0 genome.wustl.edu 37 11 118372517 118372517 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 118372517 118372517 A C SNP MLL ENST00000389506 human ensembl 69_37n +1 known silent c.6441 p.T2147 0.997 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 254 1 0.39 163 24 12.83 - - - MLL 0 genome.wustl.edu 37 11 118376092 118376092 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 118376092 118376092 A C SNP MLL ENST00000389506 human ensembl 69_37n +1 known missense c.9476 p.H3159P 1.000 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 258 0 0.00 191 28 12.79 - - - MLL 0 genome.wustl.edu 37 11 118376138 118376138 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 118376138 118376138 A C SNP MLL ENST00000389506 human ensembl 69_37n +1 known silent c.9522 p.P3174 0.986 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 257 0 0.00 198 27 11.95 - - - MLL2 0 genome.wustl.edu 37 12 49416407 49416407 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 49416407 49416407 A C SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known missense c.16304 p.V5435G 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 166 1 0.60 171 35 16.83 - - - MLL2 0 genome.wustl.edu 37 12 49445582 49445582 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 49445582 49445582 T G SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known silent c.1884 p.P628 0.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 199 1 0.50 139 33 19.08 - - - MLL3 0 genome.wustl.edu 37 7 151860755 151860755 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 151860755 151860755 T G SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.9907 p.T3303P 0.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 132 1 0.75 100 27 21.09 - - - MLL3 0 genome.wustl.edu 37 7 151860831 151860831 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 151860831 151860831 T G SNP MLL3 ENST00000360104 human ensembl 69_37n -1 novel missense c.2347 p.T783P 0.025 NULL pfam_FYrich_C,pfam_SET_dom,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,pfscan_SET_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MLL3 HGNC ENSG00000055609 141 1 0.70 119 23 16.08 - - - MLL3 0 genome.wustl.edu 37 7 151879296 151879296 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 151879296 151879296 T G SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known silent c.5649 p.S1883 0.999 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 261 1 0.38 196 26 11.56 - - - MLL3 0 genome.wustl.edu 37 7 151879377 151879377 + Silent SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 151879377 151879377 A G SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known silent c.5568 p.P1856 0.995 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 302 0 0.00 242 38 13.48 - - - MLL3 0 genome.wustl.edu 37 7 151879436 151879436 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 151879436 151879436 T G SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.5509 p.T1837P 0.832 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 375 3 0.79 309 51 14.01 - - - MLL3 0 genome.wustl.edu 37 7 151879443 151879443 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 151879443 151879443 T G SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known silent c.5502 p.P1834 0.011 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 388 1 0.26 349 43 10.94 - - - MLL3 0 genome.wustl.edu 37 7 151879618 151879618 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 151879618 151879618 A C SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.5327 p.V1776G 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 356 0 0.00 351 40 10.20 - - - MLL3 0 genome.wustl.edu 37 7 151932929 151932929 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 151932929 151932929 A C SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.2742 p.S914R 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 476 4 0.83 391 62 13.66 - - - MLL5 0 genome.wustl.edu 37 7 104702667 104702667 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 104702667 104702667 A C SNP MLL5 ENST00000257745 human ensembl 69_37n +1 known missense c.128 p.H43P 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC ENSG00000005483 305 1 0.33 270 36 11.76 - - - MLLT4 0 genome.wustl.edu 37 6 168291664 168291664 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 168291664 168291664 A C SNP MLLT4 ENST00000366806 human ensembl 69_37n +1 known missense c.1132 p.T378P 0.312 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 167 0 0.00 119 32 21.19 - - - MLLT4 0 genome.wustl.edu 37 6 168347558 168347558 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 168347558 168347558 A C SNP MLLT4 ENST00000366806 human ensembl 69_37n +1 known missense c.3509 p.H1170P 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 251 1 0.40 125 25 16.56 - - - MLYCD 0 genome.wustl.edu 37 16 83948880 83948880 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 83948880 83948880 A C SNP MLYCD ENST00000262430 human ensembl 69_37n +1 known missense c.1268 p.H423P 1.000 pfam_Malonyl_CoA_deC pfam_Malonyl_CoA_deC - no_errors MLYCD HGNC ENSG00000103150 41 0 0.00 55 12 17.91 - - - MMACHC 0 genome.wustl.edu 37 1 45974866 45974866 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 45974866 45974866 A C SNP MMACHC ENST00000474382 human ensembl 69_37n +1 known missense c.62 p.H21P 0.941 NULL NULL - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region MMACHC HGNC ENSG00000132763 137 0 0.00 101 27 20.93 - - - MMP1 0 genome.wustl.edu 37 11 102667413 102667413 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 102667413 102667413 A C SNP MMP1 ENST00000315274 human ensembl 69_37n -1 known missense c.607 p.W203G 0.998 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP1 HGNC ENSG00000196611 160 0 0.00 66 13 16.46 - - - MMP1 0 genome.wustl.edu 37 11 102668080 102668080 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 102668080 102668080 A C SNP MMP1 ENST00000315274 human ensembl 69_37n -1 known missense c.257 p.V86G 0.997 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP1 HGNC ENSG00000196611 180 1 0.55 88 18 16.98 - - - MMP2 0 genome.wustl.edu 37 16 55519641 55519641 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 55519641 55519641 A C SNP MMP2 ENST00000219070 human ensembl 69_37n +1 known missense c.784 p.T262P 1.000 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd 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 247 1 0.40 214 24 10.04 - - - MMP9 0 genome.wustl.edu 37 20 44639824 44639824 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 44639824 44639824 A C SNP MMP9 ENST00000372330 human ensembl 69_37n +1 known missense c.692 p.H231P 1.000 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_PT,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 MMP9 HGNC ENSG00000100985 144 0 0.00 93 20 17.70 - - - MOBP 0 genome.wustl.edu 37 3 39543651 39543651 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 39543651 39543651 A C SNP MOBP ENST00000354668 human ensembl 69_37n +1 known missense c.91 p.T31P 1.000 NULL NULL - no_errors MOBP HGNC ENSG00000168314 104 0 0.00 92 15 13.89 - - - MON1B 0 genome.wustl.edu 37 16 77228819 77228819 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 77228819 77228819 A C SNP MON1B ENST00000248248 human ensembl 69_37n +1 known missense c.1063 p.T355P 1.000 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 93 0 0.00 51 16 23.88 - - - MORC1 0 genome.wustl.edu 37 3 108723681 108723681 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 108723681 108723681 A C SNP MORC1 ENST00000232603 human ensembl 69_37n -1 known missense c.2068 p.C690G 0.000 NULL pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 715 2 0.28 501 75 13.02 - - - MORF4L2 0 genome.wustl.edu 37 X 102931315 102931315 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 102931315 102931315 T G SNP MORF4L2 ENST00000360458 human ensembl 69_37n -1 known missense c.641 p.H214P 1.000 pfam_MRG pfam_MRG,superfamily_Chromodomain-like - no_errors MORF4L2 HGNC ENSG00000123562 212 0 0.00 192 23 10.70 - - - MOV10 0 genome.wustl.edu 37 1 113241338 113241338 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 113241338 113241338 T G SNP MOV10 ENST00000357443 human ensembl 69_37n +1 known missense c.2510 p.V837G 1.000 NULL NULL - no_errors MOV10 HGNC ENSG00000155363 328 3 0.90 291 36 10.91 - - - MPHOSPH8 0 genome.wustl.edu 37 13 20220998 20220998 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 20220998 20220998 T G SNP MPHOSPH8 ENST00000414242 human ensembl 69_37n +1 known missense c.785 p.V262G 0.071 NULL pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 189 1 0.52 225 27 10.67 - - - MPZ 0 genome.wustl.edu 37 1 161276671 161276671 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 161276671 161276671 A C SNP MPZ ENST00000360451 human ensembl 69_37n -1 known missense c.305 p.V102G 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0 pfam_Myelin-PO_C,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0 - no_errors MPZ HGNC ENSG00000158887 134 0 0.00 202 28 12.07 - - - MPZL3 0 genome.wustl.edu 37 11 118110950 118110950 + Silent SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 118110950 118110950 A G SNP MPZL3 ENST00000278949 human ensembl 69_37n -1 known silent c.216 p.P72 0.728 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0 - no_errors MPZL3 HGNC ENSG00000160588 376 2 0.53 325 38 10.47 - - - MRAS 0 genome.wustl.edu 37 3 138091775 138091775 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 138091775 138091775 T G SNP MRAS ENST00000289104 human ensembl 69_37n +1 known missense c.50 p.V17G 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_ProtSyn_GTP-bd,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors MRAS HGNC ENSG00000158186 91 0 0.00 68 18 20.69 - - - MRO 0 genome.wustl.edu 37 18 48327790 48327790 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 48327790 48327790 T G SNP MRO ENST00000436348 human ensembl 69_37n -1 known missense c.556 p.T186P 0.960 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MRO HGNC ENSG00000134042 343 3 0.87 332 40 10.75 - - - MRPL16 0 genome.wustl.edu 37 11 59574084 59574084 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 59574084 59574084 A C SNP MRPL16 ENST00000300151 human ensembl 69_37n -1 known silent c.492 p.G164 0.626 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16 - no_errors MRPL16 HGNC ENSG00000166902 117 1 0.84 89 17 16.04 - - - MRPL24 0 genome.wustl.edu 37 1 156708187 156708187 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 156708187 156708187 A C SNP MRPL24 ENST00000361531 human ensembl 69_37n -1 known missense c.227 p.V76G 1.000 pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L24 pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L24 - no_errors MRPL24 HGNC ENSG00000143314 276 1 0.36 416 65 13.46 - - - MS4A10 0 genome.wustl.edu 37 11 60557942 60557942 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 60557942 60557942 A C SNP MS4A10 ENST00000308287 human ensembl 69_37n +1 known missense c.134 p.H45P 0.000 NULL pfam_CD20-like - no_errors MS4A10 HGNC ENSG00000172689 57 0 0.00 39 7 15.22 - - - MS4A6E 0 genome.wustl.edu 37 11 60105378 60105378 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 60105378 60105378 A C SNP MS4A6E ENST00000300182 human ensembl 69_37n +1 known silent c.312 p.S104 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A6E HGNC ENSG00000166926 136 1 0.72 69 21 23.33 - - - MS4A6E 0 genome.wustl.edu 37 11 60105385 60105385 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 60105385 60105385 A C SNP MS4A6E ENST00000300182 human ensembl 69_37n +1 known missense c.319 p.T107P 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A6E HGNC ENSG00000166926 142 0 0.00 69 18 20.69 - - - MSANTD1 0 genome.wustl.edu 37 4 3255112 3255112 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 3255112 3255112 A C SNP MSANTD1 ENST00000438480 human ensembl 69_37n +1 known missense c.499 p.T167P 1.000 NULL NULL - no_errors MSANTD1 HGNC ENSG00000188981 41 0 0.00 24 9 27.27 - - - MSANTD4 0 genome.wustl.edu 37 11 105880617 105880617 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 105880617 105880617 A C SNP MSANTD4 ENST00000301919 human ensembl 69_37n -1 known missense c.683 p.V228G 0.998 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 356 1 0.28 205 32 13.50 - - - MSANTD4 0 genome.wustl.edu 37 11 105881240 105881240 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 105881240 105881240 A C SNP MSANTD4 ENST00000301919 human ensembl 69_37n -1 known silent c.405 p.G135 1.000 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 443 0 0.00 280 38 11.95 - - - MSANTD4 0 genome.wustl.edu 37 11 105881439 105881439 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 105881439 105881439 A C SNP MSANTD4 ENST00000301919 human ensembl 69_37n -1 known missense c.206 p.V69G 1.000 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 583 1 0.17 346 42 10.82 - - - MSH6 0 genome.wustl.edu 37 2 48026682 48026682 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 48026682 48026682 T G SNP MSH6 ENST00000234420 human ensembl 69_37n +1 known silent c.1560 p.G520 0.977 pfam_DNA_mismatch_repair_MutS-lik_N,superfamily_DNA_mismatch_repair_MutS_N,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP - no_errors MSH6 HGNC ENSG00000116062 220 2 0.89 199 25 11.16 - - - MSH6 0 genome.wustl.edu 37 2 48026709 48026709 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 48026709 48026709 T G SNP MSH6 ENST00000234420 human ensembl 69_37n +1 known silent c.1587 p.G529 0.999 superfamily_DNA_mismatch_repair_MutS_connt,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP - no_errors MSH6 HGNC ENSG00000116062 243 1 0.41 197 46 18.93 - - - MSS51 0 genome.wustl.edu 37 10 75184908 75184908 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 75184908 75184908 T G SNP MSS51 ENST00000299432 human ensembl 69_37n -1 known missense c.1111 p.T371P 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors MSS51 HGNC ENSG00000166343 74 0 0.00 149 31 17.13 - - - MSS51 0 genome.wustl.edu 37 10 75186428 75186428 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 75186428 75186428 T C SNP MSS51 ENST00000299432 human ensembl 69_37n -1 known missense c.439 p.R147G 0.995 pfam_Znf_MYND,pfscan_Znf_MYND pfam_Znf_MYND,pfscan_Znf_MYND - no_errors MSS51 HGNC ENSG00000166343 219 0 0.00 284 33 10.34 - - - MST1R 0 genome.wustl.edu 37 3 49933682 49933682 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 49933682 49933682 T G SNP MST1R ENST00000296474 human ensembl 69_37n -1 known silent c.2595 p.P865 0.001 pirsf_Tyr_kinase_HGF/MSP_rcpt,smart_IPT_TIG_rcpt pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom - no_errors MST1R HGNC ENSG00000164078 42 0 0.00 65 8 10.96 - - - MSTO1 0 genome.wustl.edu 37 1 155580926 155580926 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 155580926 155580926 T G SNP MSTO1 ENST00000482284 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MSTO1 HGNC ENSG00000125459 47 0 0.00 38 17 29.31 - - - MT1X 0 genome.wustl.edu 37 16 56717259 56717259 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 56717259 56717259 A C SNP MT1X ENST00000564974 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MT1X HGNC ENSG00000187193 22 0 0.00 10 5 33.33 - - - MTG1 0 genome.wustl.edu 37 10 135215538 135215538 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 135215538 135215538 T G SNP MTG1 ENST00000460848 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MTG1 Clone_based_vega_gene ENSG00000148824 41 0 0.00 24 7 21.88 - - - MTMR11 0 genome.wustl.edu 37 1 149906418 149906418 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 149906418 149906418 A C SNP MTMR11 ENST00000439741 human ensembl 69_37n -1 known missense c.470 p.V157G 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotub-related - no_errors MTMR11 HGNC ENSG00000014914 166 1 0.59 202 25 10.96 - - - MTMR12 0 genome.wustl.edu 37 5 32274159 32274159 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 32274159 32274159 A C SNP MTMR12 ENST00000382142 human ensembl 69_37n -1 known missense c.212 p.V71G 0.970 NULL pfam_Myotubularin_assoc - no_errors MTMR12 HGNC ENSG00000150712 186 0 0.00 221 25 10.16 - - - MTMR7 0 genome.wustl.edu 37 8 17169078 17169078 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 17169078 17169078 A C SNP MTMR7 ENST00000180173 human ensembl 69_37n -1 known missense c.1043 p.V348G 1.000 smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase pfam_Myotub-related,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR7 HGNC ENSG00000003987 413 2 0.48 351 45 11.34 - - - MTMR9 0 genome.wustl.edu 37 8 11162409 11162409 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 11162409 11162409 A C SNP MTMR9 ENST00000221086 human ensembl 69_37n +1 known silent c.477 p.P159 0.828 pfam_Myotub-related pfam_Myotub-related - no_errors MTMR9 HGNC ENSG00000104643 279 0 0.00 313 42 11.76 - - - MTRF1 0 genome.wustl.edu 37 13 41814470 41814470 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 41814470 41814470 A C SNP MTRF1 ENST00000430347 human ensembl 69_37n -1 known missense c.836 p.V279G 1.000 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC ENSG00000120662 239 1 0.42 201 32 13.73 - - - MTRF1 0 genome.wustl.edu 37 13 41814502 41814502 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 41814502 41814502 A C SNP MTRF1 ENST00000430347 human ensembl 69_37n -1 known silent c.804 p.G268 1.000 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC ENSG00000120662 225 1 0.44 192 32 14.29 - - - MTRR 0 genome.wustl.edu 37 5 7897315 7897315 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 7897315 7897315 T G SNP MTRR ENST00000264668 human ensembl 69_37n +1 known missense c.1988 p.V663G 0.996 pfam_OxRdtase_FAD/NAD-bd pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin,pfscan_Flavodoxin/NO_synth - no_errors MTRR HGNC ENSG00000124275 119 1 0.83 80 15 15.79 - - - MTTP 0 genome.wustl.edu 37 4 100521744 100521744 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 100521744 100521744 A C SNP MTTP ENST00000265517 human ensembl 69_37n +1 known missense c.1090 p.T364P 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 264 0 0.00 187 27 12.62 - - - MTUS2 0 genome.wustl.edu 37 13 29600551 29600551 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 29600551 29600551 A C SNP MTUS2 ENST00000431530 human ensembl 69_37n +1 known silent c.1746 p.P582 0.002 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 197 2 1.00 130 32 19.75 - - - MUC16 0 genome.wustl.edu 37 19 9010977 9010977 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9010977 9010977 T G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.38941 p.T12981P 0.004 smart_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 401 0 0.00 460 82 15.10 - - - MUC16 0 genome.wustl.edu 37 19 9045772 9045772 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9045772 9045772 T G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.35859 p.P11953 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 236 1 0.42 146 24 13.95 - - - MUC16 0 genome.wustl.edu 37 19 9048196 9048196 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9048196 9048196 T G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.33435 p.S11145 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 392 1 0.25 344 42 10.85 - - - MUC16 0 genome.wustl.edu 37 19 9050145 9050145 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9050145 9050145 T G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.31486 p.T10496P 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 1175 1 0.09 1260 176 12.21 - - - MUC16 0 genome.wustl.edu 37 19 9067940 9067940 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9067940 9067940 T G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.19506 p.P6502 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 148 0 0.00 207 44 17.46 - - - MUC16 0 genome.wustl.edu 37 19 9071743 9071743 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9071743 9071743 T G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.15703 p.T5235P 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 309 0 0.00 413 72 14.72 - - - MUC16 0 genome.wustl.edu 37 19 9075988 9075988 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9075988 9075988 T G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.11458 p.T3820P 0.061 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 440 1 0.22 443 50 10.14 - - - MUC16 0 genome.wustl.edu 37 19 9087146 9087146 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9087146 9087146 T G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.4669 p.T1557P 0.353 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 406 2 0.49 335 40 10.61 - - - MUC16 0 genome.wustl.edu 37 19 9087851 9087851 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9087851 9087851 T G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.3964 p.T1322P 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 304 0 0.00 216 48 18.18 - - - MUC16 0 genome.wustl.edu 37 19 9087903 9087903 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9087903 9087903 T G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.3912 p.S1304 0.003 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 379 1 0.26 288 35 10.74 - - - MUC16 0 genome.wustl.edu 37 19 9089350 9089350 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9089350 9089350 T G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.2465 p.H822P 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 392 2 0.51 305 57 15.75 - - - MUC16 0 genome.wustl.edu 37 19 9090455 9090455 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9090455 9090455 T G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.1360 p.T454P 0.005 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 417 1 0.24 376 49 11.50 - - - MUC17 0 genome.wustl.edu 37 7 100677347 100677347 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 100677347 100677347 A C SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.2650 p.T884P 0.001 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 489 1 0.20 339 56 14.07 - - - MUC17 0 genome.wustl.edu 37 7 100678409 100678409 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 100678409 100678409 A C SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.3712 p.T1238P 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 380 1 0.26 270 39 12.62 - - - MUC17 0 genome.wustl.edu 37 7 100678795 100678795 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 100678795 100678795 A C SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known silent c.4098 p.T1366 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 389 0 0.00 277 32 10.32 - - - MUC17 0 genome.wustl.edu 37 7 100679716 100679716 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 100679716 100679716 A C SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known silent c.5019 p.T1673 0.097 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 339 1 0.29 256 30 10.49 - - - MUC17 0 genome.wustl.edu 37 7 100681412 100681412 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 100681412 100681412 A C SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.6715 p.T2239P 0.034 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 330 3 0.90 272 37 11.94 - - - MUC17 0 genome.wustl.edu 37 7 100682693 100682693 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 100682693 100682693 A C SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.7996 p.T2666P 0.007 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 253 2 0.78 249 32 11.39 - - - MUC17 0 genome.wustl.edu 37 7 100683214 100683214 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 100683214 100683214 A C SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known silent c.8517 p.T2839 0.001 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 269 1 0.37 242 33 11.96 - - - MUC3A 0 genome.wustl.edu 37 7 100552306 100552306 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 100552306 100552306 A C SNP MUC3A ENST00000319509 human ensembl 69_37n +1 known missense c.1057 p.T353P 0.007 NULL pfam_SEA,smart_EGF-like,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_start_codon MUC3A HGNC ENSG00000169894 272 1 0.36 398 45 10.14 - - - MUC5B 0 genome.wustl.edu 37 11 1268931 1268931 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 1268931 1268931 A C SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known silent c.10830 p.A3610 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 12 0 0.00 11 5 27.78 - - - MUC7 0 genome.wustl.edu 37 4 71346686 71346686 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 71346686 71346686 A C SNP MUC7 ENST00000304887 human ensembl 69_37n +1 known silent c.225 p.P75 0.001 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 469 1 0.21 412 57 12.10 - - - MUSK 0 genome.wustl.edu 37 9 113509990 113509990 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 113509990 113509990 A C SNP MUSK ENST00000189978 human ensembl 69_37n +1 known missense c.823 p.T275P 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 349 2 0.57 280 43 13.27 - - - MUSK 0 genome.wustl.edu 37 9 113530150 113530150 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 113530150 113530150 T G SNP MUSK ENST00000189978 human ensembl 69_37n +1 known missense c.989 p.V330G 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 244 0 0.00 191 32 14.35 - - - MUSK 0 genome.wustl.edu 37 9 113538211 113538211 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 113538211 113538211 A C SNP MUSK ENST00000189978 human ensembl 69_37n +1 known missense c.1346 p.D449A 1.000 pfam_Frizzled_dom,pfscan_Frizzled_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 262 2 0.76 153 24 13.56 - - - MUSK 0 genome.wustl.edu 37 9 113562968 113562968 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 113562968 113562968 A C SNP MUSK ENST00000189978 human ensembl 69_37n +1 known silent c.2328 p.P776 0.059 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 256 0 0.00 156 28 15.22 - - - MX1 0 genome.wustl.edu 37 21 42811671 42811671 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 42811671 42811671 A C SNP MX1 ENST00000398598 human ensembl 69_37n +1 known missense c.487 p.T163P 0.048 pfam_Dynamin_GTPase,smart_Dynamin_GTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors MX1 HGNC ENSG00000157601 117 0 0.00 122 28 18.67 - - - MXRA5 0 genome.wustl.edu 37 X 3238469 3238469 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 3238469 3238469 T G SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known missense c.5257 p.T1753P 0.066 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 91 0 0.00 87 16 15.53 - - - MYBPHL 0 genome.wustl.edu 37 1 109840084 109840084 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 109840084 109840084 A C SNP MYBPHL ENST00000357155 human ensembl 69_37n -1 known silent c.390 p.G130 0.001 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPHL HGNC ENSG00000221986 69 0 0.00 38 10 19.61 - - - MYCL1 0 genome.wustl.edu 37 1 40363333 40363333 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 40363333 40363333 T G SNP MYCL1 ENST00000372816 human ensembl 69_37n -1 known missense c.806 p.H269P 0.994 NULL pfam_Tscrpt_reg_Myc_N,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd,prints_Tscrpt_reg_Myc - no_errors MYCL1 HGNC ENSG00000116990 129 0 0.00 145 22 13.10 - - - MYF5 0 genome.wustl.edu 37 12 81111320 81111320 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 81111320 81111320 A C SNP MYF5 ENST00000228644 human ensembl 69_37n +1 known missense c.478 p.T160P 1.000 pfam_Myf5,superfamily_HLH_DNA-bd pfam_Basic,pfam_Myf5,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_Basic,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors MYF5 HGNC ENSG00000111049 154 1 0.65 165 28 14.43 - - - MYH1 0 genome.wustl.edu 37 17 10398333 10398333 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 10398333 10398333 A C SNP MYH1 ENST00000226207 human ensembl 69_37n -1 known missense c.5381 p.V1794G 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 294 2 0.68 157 18 10.29 - - - MYH11 0 genome.wustl.edu 37 16 15931904 15931904 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 15931904 15931904 A C SNP MYH11 ENST00000396324 human ensembl 69_37n -1 known missense c.206 p.V69G 0.995 pfam_Myosin_N pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 151 0 0.00 149 27 15.34 - - - MYH13 0 genome.wustl.edu 37 17 10248920 10248920 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 10248920 10248920 A C SNP MYH13 ENST00000252172 human ensembl 69_37n -1 known missense c.1277 p.V426G 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH13 HGNC ENSG00000006788 207 0 0.00 202 30 12.82 - - - MYH15 0 genome.wustl.edu 37 3 108117629 108117629 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 108117629 108117629 A C SNP MYH15 ENST00000273353 human ensembl 69_37n -1 known missense c.5048 p.V1683G 0.819 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 293 0 0.00 225 38 14.34 - - - MYH4 0 genome.wustl.edu 37 17 10368808 10368808 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 10368808 10368808 T G SNP MYH4 ENST00000255381 human ensembl 69_37n -1 known silent c.456 p.P152 0.738 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 203 0 0.00 206 32 13.39 - - - MYH7 0 genome.wustl.edu 37 14 23901706 23901706 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 23901706 23901706 T G SNP MYH7 ENST00000355349 human ensembl 69_37n -1 known missense c.512 p.N171T 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 124 0 0.00 138 23 14.02 - - - MYL6 0 genome.wustl.edu 37 12 56553408 56553408 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 56553408 56553408 T G SNP MYL6 ENST00000552297 human ensembl 69_37n +1 known splice_site c.NULL NULL 0.080 - - - no_errors MYL6 HGNC ENSG00000092841 160 1 0.62 169 21 10.99 - - - MYL6B 0 genome.wustl.edu 37 12 56548626 56548626 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 56548626 56548626 T G SNP MYL6B ENST00000207437 human ensembl 69_37n +1 known splice_site c.202+2 e2+2 1.000 - - - no_errors MYL6B HGNC ENSG00000196465 205 1 0.48 201 38 15.90 - - - MYLK 0 genome.wustl.edu 37 3 123419403 123419403 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 123419403 123419403 A C SNP MYLK ENST00000360304 human ensembl 69_37n -1 known missense c.2912 p.V971G 0.005 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 69 0 0.00 54 7 11.48 - - - MYLK3 0 genome.wustl.edu 37 16 46744613 46744613 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 46744613 46744613 T G SNP MYLK3 ENST00000394809 human ensembl 69_37n -1 known missense c.2203 p.T735P 0.429 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 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 MYLK3 HGNC ENSG00000140795 246 1 0.40 200 24 10.67 - - - MYLK3 0 genome.wustl.edu 37 16 46774003 46774003 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 46774003 46774003 A C SNP MYLK3 ENST00000394809 human ensembl 69_37n -1 known missense c.534 p.S178R 0.066 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 MYLK3 HGNC ENSG00000140795 76 0 0.00 97 20 17.09 - - - MYNN 0 genome.wustl.edu 37 3 169500290 169500290 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 169500290 169500290 T G SNP MYNN ENST00000349841 human ensembl 69_37n +1 known missense c.1258 p.C420G 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors MYNN HGNC ENSG00000085274 143 0 0.00 169 35 17.16 - - - MYO18A 0 genome.wustl.edu 37 17 27401710 27401710 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 27401710 27401710 T G SNP MYO18A ENST00000529578 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors MYO18A HGNC ENSG00000196535 28 0 0.00 34 14 28.57 - - - MYO19 0 genome.wustl.edu 37 17 34883918 34883918 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 34883918 34883918 A C SNP MYO19 ENST00000431794 human ensembl 69_37n -1 known missense c.128 p.V43G 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO19 HGNC ENSG00000141140 23 0 0.00 27 8 22.86 - - - MYO1A 0 genome.wustl.edu 37 12 57431419 57431419 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 57431419 57431419 A C SNP MYO1A ENST00000300119 human ensembl 69_37n -1 known silent c.1968 p.G656 0.806 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1A HGNC ENSG00000166866 297 0 0.00 247 57 18.63 - - - MYO1D 0 genome.wustl.edu 37 17 31039078 31039078 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 31039078 31039078 T G SNP MYO1D ENST00000318217 human ensembl 69_37n -1 known silent c.2049 p.T683 0.996 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 486 1 0.20 397 58 12.66 - - - MYO1E 0 genome.wustl.edu 37 15 59500992 59500992 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 59500992 59500992 A C SNP MYO1E ENST00000288235 human ensembl 69_37n -1 known missense c.1418 p.V473G 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 99 1 1.00 90 18 16.67 - - - MYO3A 0 genome.wustl.edu 37 10 26312957 26312957 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 26312957 26312957 A C SNP MYO3A ENST00000265944 human ensembl 69_37n +1 known silent c.738 p.P246 0.998 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 pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 260 0 0.00 199 34 14.53 - - - MYO3A 0 genome.wustl.edu 37 10 26455048 26455048 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 26455048 26455048 A C SNP MYO3A ENST00000265944 human ensembl 69_37n +1 known missense c.3052 p.T1018P 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 485 2 0.41 477 70 12.75 - - - MYO5B 0 genome.wustl.edu 37 18 47438542 47438542 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 47438542 47438542 A C SNP MYO5B ENST00000285039 human ensembl 69_37n -1 known missense c.2092 p.W698G 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 163 1 0.61 138 22 13.58 - - - MYO5B 0 genome.wustl.edu 37 18 47479712 47479712 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 47479712 47479712 A C SNP MYO5B ENST00000285039 human ensembl 69_37n -1 known missense c.1670 p.V557G 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 137 0 0.00 62 14 18.42 - - - MYO6 0 genome.wustl.edu 37 6 76623917 76623917 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 76623917 76623917 T G SNP MYO6 ENST00000369981 human ensembl 69_37n +1 known missense c.3580 p.W1194G 1.000 NULL pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 230 1 0.43 204 31 13.14 - - - MYO6 0 genome.wustl.edu 37 6 76624691 76624691 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 76624691 76624691 A C SNP MYO6 ENST00000369981 human ensembl 69_37n +1 known missense c.3823 p.T1275P 1.000 NULL pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 46 0 0.00 30 15 33.33 - - - MYO7B 0 genome.wustl.edu 37 2 128378020 128378020 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 128378020 128378020 A C SNP MYO7B ENST00000389524 human ensembl 69_37n +1 known silent c.3426 p.P1142 0.929 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 34 0 0.00 63 17 21.25 - - - MYOCD 0 genome.wustl.edu 37 17 12666869 12666869 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 12666869 12666869 A C SNP MYOCD ENST00000425538 human ensembl 69_37n +1 known missense c.2869 p.T957P 0.446 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MYOCD HGNC ENSG00000141052 119 0 0.00 128 16 11.11 - - - MYOF 0 genome.wustl.edu 37 10 95115412 95115412 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 95115412 95115412 T G SNP MYOF ENST00000359263 human ensembl 69_37n -1 known missense c.3376 p.T1126P 1.000 pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors MYOF HGNC ENSG00000138119 321 0 0.00 189 28 12.84 - - - MYOZ2 0 genome.wustl.edu 37 4 120079261 120079261 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 120079261 120079261 A C SNP MYOZ2 ENST00000307128 human ensembl 69_37n +1 known missense c.331 p.T111P 1.000 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ2 HGNC ENSG00000172399 327 2 0.61 310 53 14.60 - - - MYPN 0 genome.wustl.edu 37 10 69934372 69934372 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 69934372 69934372 A C SNP MYPN ENST00000358913 human ensembl 69_37n +1 known silent c.2523 p.P841 0.979 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYPN HGNC ENSG00000138347 95 0 0.00 63 21 25.00 - - - MYRIP 0 genome.wustl.edu 37 3 40223805 40223805 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 40223805 40223805 A C SNP MYRIP ENST00000302541 human ensembl 69_37n +1 known missense c.968 p.H323P 0.007 pfam_Myelin-assoc_OBP pfam_Myelin-assoc_OBP,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MYRIP HGNC ENSG00000170011 105 0 0.00 63 25 28.41 - - - N6AMT1 0 genome.wustl.edu 37 21 30255357 30255357 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 30255357 30255357 A C SNP N6AMT1 ENST00000303775 human ensembl 69_37n -1 known silent c.171 p.G57 0.434 pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_HemK-rel_arch pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_HemK-rel_arch - no_errors N6AMT1 HGNC ENSG00000156239 207 0 0.00 166 26 13.47 - - - NAB2 0 genome.wustl.edu 37 12 57485520 57485520 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 57485520 57485520 T G SNP NAB2 ENST00000300131 human ensembl 69_37n +1 known silent c.696 p.G232 1.000 pfam_NAB_co-repressor_dom pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 40 0 0.00 20 14 41.18 - - - NABP2 0 genome.wustl.edu 37 12 56619453 56619453 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 56619453 56619453 T G SNP NABP2 ENST00000267023 human ensembl 69_37n +1 known silent c.264 p.R88 1.000 superfamily_NA-bd_OB-fold-like pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like - no_errors NABP2 HGNC ENSG00000139579 114 1 0.87 133 20 13.07 - - - NALCN 0 genome.wustl.edu 37 13 101742234 101742234 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 101742234 101742234 A C SNP NALCN ENST00000251127 human ensembl 69_37n -1 known missense c.3353 p.V1118G 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 611 1 0.16 485 58 10.66 - - - NALCN 0 genome.wustl.edu 37 13 102051449 102051449 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 102051449 102051449 A C SNP NALCN ENST00000251127 human ensembl 69_37n -1 known missense c.29 p.V10G 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 161 0 0.00 127 21 14.19 - - - NANOS3 0 genome.wustl.edu 37 19 13991312 13991312 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 13991312 13991312 A C SNP NANOS3 ENST00000339133 human ensembl 69_37n +1 known missense c.574 p.T192P 0.056 NULL pfam_Znf_nanos-typ - no_errors NANOS3 HGNC ENSG00000187556 21 0 0.00 17 8 32.00 - - - NANP 0 genome.wustl.edu 37 20 25597053 25597053 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 25597053 25597053 A C SNP NANP ENST00000304788 human ensembl 69_37n -1 known silent c.255 p.G85 0.760 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_CTE7 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_hydro_IA_CTE7,tigrfam_HAD-SF_hydro_IA_v1 - no_errors NANP HGNC ENSG00000170191 59 0 0.00 53 12 18.46 - - - NAP1L2 0 genome.wustl.edu 37 X 72434143 72434143 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 72434143 72434143 A C SNP NAP1L2 ENST00000373517 human ensembl 69_37n -1 known silent c.186 p.G62 0.405 NULL pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 205 2 0.97 159 31 16.32 - - - NAP1L3 0 genome.wustl.edu 37 X 92927657 92927657 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 92927657 92927657 A C SNP NAP1L3 ENST00000373079 human ensembl 69_37n -1 known missense c.647 p.V216G 0.003 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 269 0 0.00 186 28 13.08 - - - NAP1L5 0 genome.wustl.edu 37 4 89618518 89618518 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 89618518 89618518 A C SNP NAP1L5 ENST00000323061 human ensembl 69_37n -1 known missense c.388 p.C130G 0.631 pfam_NAP_family pfam_NAP_family - no_errors NAP1L5 HGNC ENSG00000177432 121 1 0.82 110 28 20.29 - - - NAV1 0 genome.wustl.edu 37 1 201789054 201789054 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 201789054 201789054 A C SNP NAV1 ENST00000367296 human ensembl 69_37n +1 known silent c.5628 p.T1876 0.154 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 141 0 0.00 197 22 10.05 - - - NAV2 0 genome.wustl.edu 37 11 20089927 20089927 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 20089927 20089927 A C SNP NAV2 ENST00000396087 human ensembl 69_37n +1 known missense c.5134 p.T1712P 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 245 1 0.41 270 74 21.45 - - - NAV3 0 genome.wustl.edu 37 12 78401189 78401189 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 78401189 78401189 A C SNP NAV3 ENST00000397909 human ensembl 69_37n +1 known missense c.1871 p.H624P 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 231 0 0.00 168 37 17.96 - - - NBAS 0 genome.wustl.edu 37 2 15506743 15506743 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 15506743 15506743 T G SNP NBAS ENST00000281513 human ensembl 69_37n -1 known missense c.3778 p.T1260P 0.827 pfam_Sec39 pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 151 0 0.00 155 25 13.89 - - - NBEAL2 0 genome.wustl.edu 37 3 47045770 47045770 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 47045770 47045770 A C SNP NBEAL2 ENST00000450053 human ensembl 69_37n +1 known missense c.6085 p.T2029P 0.992 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 37 0 0.00 24 6 20.00 - - - NBPF1 0 genome.wustl.edu 37 1 16918512 16918512 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 16918512 16918512 A C SNP NBPF1 ENST00000392963 human ensembl 69_37n -1 known rna NULL NULL 0.012 - - - no_errors NBPF1 HGNC ENSG00000219481 661 2 0.30 538 62 10.26 - - - NCAM1 0 genome.wustl.edu 37 11 113078048 113078048 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 113078048 113078048 A C SNP NCAM1 ENST00000316851 human ensembl 69_37n +1 known missense c.664 p.T222P 0.997 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-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,prints_Neural_cell_adh,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NCAM1 HGNC ENSG00000149294 158 0 0.00 79 15 15.62 - - - NCK1 0 genome.wustl.edu 37 3 136664596 136664596 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 136664596 136664596 T G SNP NCK1 ENST00000467911 human ensembl 69_37n +1 putative splice_site c.204+2 e2+2 1.000 - - - no_stop_codon NCK1 HGNC ENSG00000158092 279 2 0.71 213 30 12.30 - - - NCK1 0 genome.wustl.edu 37 3 136664690 136664690 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 136664690 136664690 T G SNP NCK1 ENST00000288986 human ensembl 69_37n +1 known silent c.492 p.G164 0.996 superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK1 HGNC ENSG00000158092 301 1 0.33 272 36 11.69 - - - NCKIPSD 0 genome.wustl.edu 37 3 48718693 48718693 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 48718693 48718693 T G SNP NCKIPSD ENST00000439518 human ensembl 69_37n -1 putative silent c.1119 p.P373 0.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_stop_codon:bad_bp_length_for_coding_region NCKIPSD HGNC ENSG00000213672 24 0 0.00 18 10 35.71 - - - NCOA3 0 genome.wustl.edu 37 20 46268322 46268322 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 46268322 46268322 T G SNP NCOA3 ENST00000371998 human ensembl 69_37n +1 known silent c.2709 p.G903 0.999 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NCOA3 HGNC ENSG00000124151 322 3 0.92 247 61 19.81 - - - NCOR1 0 genome.wustl.edu 37 17 15964978 15964978 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 15964978 15964978 A C SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known missense c.5618 p.V1873G 0.995 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 330 0 0.00 378 74 16.34 - - - NCSTN 0 genome.wustl.edu 37 1 160323997 160323997 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 160323997 160323997 A C SNP NCSTN ENST00000424645 human ensembl 69_37n +1 known missense c.776 p.H259P 0.930 pfam_Nicastrin,pfam_Peptidase_M28 pfam_Nicastrin,pfam_Peptidase_M28 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region NCSTN HGNC ENSG00000162736 118 0 0.00 192 27 12.27 - - - NDST3 0 genome.wustl.edu 37 4 118975235 118975235 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 118975235 118975235 A C SNP NDST3 ENST00000296499 human ensembl 69_37n +1 known missense c.170 p.H57P 0.043 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST3 HGNC ENSG00000164100 200 0 0.00 110 34 23.45 - - - NDUFA3 0 genome.wustl.edu 37 19 54610301 54610301 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 54610301 54610301 T G SNP NDUFA3 ENST00000484360 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors NDUFA3 HGNC ENSG00000170906 128 1 0.77 111 26 18.98 - - - NDUFS1 0 genome.wustl.edu 37 2 207003270 207003270 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 207003270 207003270 T G SNP NDUFS1 ENST00000455934 human ensembl 69_37n -1 known missense c.1373 p.H458P 1.000 pfam_Mopterin_OxRdtase,tigrfam_NADH_UbQ_OxRdtase_Gsu pfam_Mopterin_OxRdtase,pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfam_NuoG_C,pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu - no_errors NDUFS1 HGNC ENSG00000023228 132 1 0.75 94 17 15.32 - - - NDUFV3 0 genome.wustl.edu 37 21 44323553 44323553 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 44323553 44323553 T G SNP NDUFV3 ENST00000354250 human ensembl 69_37n +1 known missense c.431 p.V144G 0.000 NULL NULL - no_errors NDUFV3 HGNC ENSG00000160194 146 1 0.68 231 40 14.76 - - - NEB 0 genome.wustl.edu 37 2 152390790 152390790 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 152390790 152390790 T G SNP NEB ENST00000427231 human ensembl 69_37n -1 known missense c.21356 p.H7119P 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 209 1 0.48 152 21 12.07 - - - NEB 0 genome.wustl.edu 37 2 152500596 152500596 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 152500596 152500596 A C SNP NEB ENST00000397345 human ensembl 69_37n -1 known silent c.7692 p.G2564 0.687 pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 275 2 0.72 170 32 15.84 - - - NEB 0 genome.wustl.edu 37 2 152550949 152550949 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 152550949 152550949 A C SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.1784 p.V595G 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 188 0 0.00 114 23 16.67 - - - NECAP2 0 genome.wustl.edu 37 1 16774759 16774759 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 16774759 16774759 A C SNP NECAP2 ENST00000508680 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors NECAP2 HGNC ENSG00000157191 44 0 0.00 31 8 20.51 - - - NEFH 0 genome.wustl.edu 37 22 29886250 29886250 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 29886250 29886250 T G SNP NEFH ENST00000310624 human ensembl 69_37n +1 known missense c.2621 p.V874G 0.000 NULL pfam_F,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 77 0 0.00 79 18 18.37 - - - NEFH 0 genome.wustl.edu 37 22 29886370 29886370 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 29886370 29886370 T G SNP NEFH ENST00000310624 human ensembl 69_37n +1 known missense c.2741 p.V914G 0.495 NULL pfam_F,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 92 0 0.00 88 24 21.43 - - - NEFM 0 genome.wustl.edu 37 8 24775741 24775741 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 24775741 24775741 T G SNP NEFM ENST00000221166 human ensembl 69_37n +1 known silent c.2373 p.G791 0.000 NULL pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 76 0 0.00 55 25 31.25 - - - NEGR1 0 genome.wustl.edu 37 1 72748151 72748151 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 72748151 72748151 A C SNP NEGR1 ENST00000357731 human ensembl 69_37n -1 known silent c.27 p.G9 0.988 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors NEGR1 HGNC ENSG00000172260 58 0 0.00 28 10 26.32 - - - NEK4 0 genome.wustl.edu 37 3 52794854 52794854 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 52794854 52794854 T G SNP NEK4 ENST00000233027 human ensembl 69_37n -1 known missense c.920 p.H307P 0.000 superfamily_Kinase-like_dom 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 NEK4 HGNC ENSG00000114904 167 1 0.60 110 25 18.25 - - - NELL1 0 genome.wustl.edu 37 11 20968884 20968884 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 20968884 20968884 T G SNP NELL1 ENST00000357134 human ensembl 69_37n +1 known silent c.1074 p.G358 1.000 smart_VWF_C pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 243 1 0.41 199 36 15.25 - - - NEO1 0 genome.wustl.edu 37 15 73575388 73575388 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 73575388 73575388 A C SNP NEO1 ENST00000261908 human ensembl 69_37n +1 known missense c.3346 p.T1116P 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NEO1 HGNC ENSG00000067141 425 3 0.70 323 44 11.92 - - - NES 0 genome.wustl.edu 37 1 156639352 156639352 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 156639352 156639352 T C SNP NES ENST00000368223 human ensembl 69_37n -1 known missense c.4628 p.E1543G 0.000 NULL pfam_F - no_errors NES HGNC ENSG00000132688 136 1 0.72 201 32 13.73 - - - NEUROD4 0 genome.wustl.edu 37 12 55421170 55421170 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 55421170 55421170 A C SNP NEUROD4 ENST00000242994 human ensembl 69_37n +1 known missense c.947 p.Y316S 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD,pfscan_HLH_DNA-bd - no_errors NEUROD4 HGNC ENSG00000123307 872 0 0.00 638 84 11.60 - - - NFASC 0 genome.wustl.edu 37 1 204978714 204978714 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 204978714 204978714 A C SNP NFASC ENST00000367172 human ensembl 69_37n +1 known missense c.3640 p.T1214P 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NFASC HGNC ENSG00000163531 150 1 0.65 212 32 12.85 - - - NFAT5 0 genome.wustl.edu 37 16 69681172 69681172 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 69681172 69681172 A C SNP NFAT5 ENST00000432919 human ensembl 69_37n +1 known silent c.495 p.P165 0.997 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 120 0 0.00 77 17 18.09 - - - NFAT5 0 genome.wustl.edu 37 16 69727439 69727439 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 69727439 69727439 A C SNP NFAT5 ENST00000432919 human ensembl 69_37n +1 known silent c.3711 p.P1237 0.992 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 246 1 0.40 160 22 12.02 - - - NFATC2 0 genome.wustl.edu 37 20 50048651 50048651 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 50048651 50048651 A C SNP NFATC2 ENST00000396009 human ensembl 69_37n -1 known missense c.2675 p.V892G 1.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT,pfscan_RHD - no_errors NFATC2 HGNC ENSG00000101096 105 0 0.00 69 19 21.35 - - - NFATC3 0 genome.wustl.edu 37 16 68156494 68156494 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 68156494 68156494 A C SNP NFATC3 ENST00000570212 human ensembl 69_37n +1 putative missense c.661 p.T221P 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 126 0 0.00 84 19 18.27 - - - NFE2 0 genome.wustl.edu 37 12 54686447 54686447 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 54686447 54686447 A C SNP NFE2 ENST00000312156 human ensembl 69_37n -1 known missense c.833 p.V278G 1.000 pfam_bZIP_1,pfam_bZIP_2,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_bZIP_1,pfam_bZIP_2,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2 HGNC ENSG00000123405 72 0 0.00 84 24 22.22 - - - NFE2L2 0 genome.wustl.edu 37 2 178096428 178096428 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 178096428 178096428 T G SNP NFE2L2 ENST00000397062 human ensembl 69_37n -1 known silent c.903 p.S301 0.383 superfamily_Sepin_dom pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,superfamily_Sepin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 167 0 0.00 130 20 13.25 - - - NFIL3 0 genome.wustl.edu 37 9 94172891 94172891 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 94172891 94172891 A C SNP NFIL3 ENST00000297689 human ensembl 69_37n -1 known silent c.126 p.G42 0.000 pirsf_TF_bZIP_E4BP4 pfam_Vert_IL3-reg_TF,pfam_bZIP_2,pfam_bZIP_1,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP - no_errors NFIL3 HGNC ENSG00000165030 168 0 0.00 130 35 21.21 - - - NFKB2 0 genome.wustl.edu 37 10 104160250 104160250 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 104160250 104160250 T G SNP NFKB2 ENST00000189444 human ensembl 69_37n +1 known splice_site c.1798+2 e15+2 1.000 - - - no_errors NFKB2 HGNC ENSG00000077150 42 0 0.00 21 5 19.23 - - - NHEJ1 0 genome.wustl.edu 37 2 220022939 220022939 + Splice_Site SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 220022939 220022939 A C SNP NHEJ1 ENST00000450447 human ensembl 69_37n -1 known splice_site c.144+2 e1+2 1.000 - - - no_errors NHEJ1 HGNC ENSG00000187736 222 1 0.45 147 22 13.02 - - - NHS 0 genome.wustl.edu 37 X 17743896 17743896 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 17743896 17743896 A C SNP NHS ENST00000380060 human ensembl 69_37n +1 known missense c.1607 p.H536P 0.993 NULL NULL - no_errors NHS HGNC ENSG00000188158 467 2 0.43 403 72 15.03 - - - NHS 0 genome.wustl.edu 37 X 17744668 17744668 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 17744668 17744668 T G SNP NHS ENST00000380060 human ensembl 69_37n +1 known silent c.2379 p.G793 0.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 482 4 0.82 371 84 18.46 - - - NHS 0 genome.wustl.edu 37 X 17750086 17750086 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 17750086 17750086 A C SNP NHS ENST00000380060 human ensembl 69_37n +1 known silent c.4395 p.S1465 0.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 266 1 0.37 197 31 13.60 - - - NID2 0 genome.wustl.edu 37 14 52478355 52478355 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 52478355 52478355 A C SNP NID2 ENST00000216286 human ensembl 69_37n -1 known missense c.3467 p.V1156G 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 260 2 0.76 169 32 15.92 - - - NIN 0 genome.wustl.edu 37 14 51259540 51259540 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 51259540 51259540 A C SNP NIN ENST00000245441 human ensembl 69_37n -1 known missense c.325 p.S109A 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC ENSG00000100503 91 0 0.00 104 24 18.60 - - - NIPAL4 0 genome.wustl.edu 37 5 156895773 156895773 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 156895773 156895773 A C SNP NIPAL4 ENST00000311946 human ensembl 69_37n +1 known silent c.564 p.A188 0.881 pfam_Mg_trans_NIPA,pfam_DMT pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL4 HGNC ENSG00000172548 251 2 0.78 139 30 17.75 - - - NIPAL4 0 genome.wustl.edu 37 5 156899735 156899735 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 156899735 156899735 A C SNP NIPAL4 ENST00000311946 human ensembl 69_37n +1 known missense c.1168 p.T390P 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL4 HGNC ENSG00000172548 153 1 0.65 115 22 16.06 - - - NIPBL 0 genome.wustl.edu 37 5 36984830 36984830 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 36984830 36984830 T G SNP NIPBL ENST00000282516 human ensembl 69_37n +1 known silent c.1548 p.G516 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 353 1 0.28 261 63 19.33 - - - NIPBL 0 genome.wustl.edu 37 5 36984842 36984842 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 36984842 36984842 T G SNP NIPBL ENST00000282516 human ensembl 69_37n +1 known silent c.1560 p.G520 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 373 2 0.53 286 53 15.45 - - - NIPBL 0 genome.wustl.edu 37 5 36985403 36985403 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 36985403 36985403 T G SNP NIPBL ENST00000282516 human ensembl 69_37n +1 known silent c.2121 p.G707 0.994 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 277 2 0.72 239 47 16.21 - - - NKTR 0 genome.wustl.edu 37 3 42680768 42680768 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 42680768 42680768 T G SNP NKTR ENST00000232978 human ensembl 69_37n +1 known missense c.3572 p.V1191G 0.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 145 1 0.68 151 22 12.64 - - - NLGN1 0 genome.wustl.edu 37 3 173322453 173322453 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 173322453 173322453 A C SNP NLGN1 ENST00000401917 human ensembl 69_37n +1 known missense c.65 p.H22P 0.618 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 196 0 0.00 187 25 11.79 - - - NLGN3 0 genome.wustl.edu 37 X 70389987 70389987 + RNA SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 70389987 70389987 T C SNP NLGN3 ENST00000476589 human ensembl 69_37n +1 known rna NULL NULL 0.942 - - - no_errors NLGN3 HGNC ENSG00000196338 27 0 0.00 47 12 20.34 - - - NLGN4X 0 genome.wustl.edu 37 X 5811277 5811277 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 5811277 5811277 T G SNP NLGN4X ENST00000381093 human ensembl 69_37n -1 known missense c.2092 p.T698P 1.000 prints_Neuroligin pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 229 1 0.43 132 18 11.84 - - - NLRC5 0 genome.wustl.edu 37 16 57059457 57059457 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 57059457 57059457 T G SNP NLRC5 ENST00000262510 human ensembl 69_37n +1 known missense c.602 p.V201G 0.083 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 117 0 0.00 127 18 12.41 - - - NLRC5 0 genome.wustl.edu 37 16 57088712 57088712 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 57088712 57088712 A C SNP NLRC5 ENST00000262510 human ensembl 69_37n +1 known missense c.3556 p.T1186P 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 247 1 0.40 202 30 12.93 - - - NLRP10 0 genome.wustl.edu 37 11 7984900 7984900 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 7984900 7984900 T C SNP NLRP10 ENST00000328600 human ensembl 69_37n -1 known missense c.143 p.E48G 1.000 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 87 0 0.00 111 24 17.78 - - - NLRP13 0 genome.wustl.edu 37 19 56407313 56407313 + Nonstop_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 56407313 56407313 A C SNP NLRP13 ENST00000342929 human ensembl 69_37n -1 known nonstop c.3130 p.*1044E 0.026 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 382 3 0.78 381 50 11.55 - - - NLRP7 0 genome.wustl.edu 37 19 55450430 55450430 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 55450430 55450430 A C SNP NLRP7 ENST00000446217 human ensembl 69_37n -1 known missense c.1841 p.V614G 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 123 1 0.81 71 16 18.39 - - - NLRP7 0 genome.wustl.edu 37 19 55452361 55452361 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 55452361 55452361 A C SNP NLRP7 ENST00000446217 human ensembl 69_37n -1 known missense c.374 p.V125G 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 99 1 1.00 75 15 16.67 - - - NNT 0 genome.wustl.edu 37 5 43644382 43644382 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 43644382 43644382 T G SNP NNT ENST00000264663 human ensembl 69_37n +1 known silent c.1053 p.G351 0.243 pfam_AlaDH/PNT_NAD(H)-bd,tigrfam_NADP_transhyd_a pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 140 1 0.71 107 23 17.56 - - - NOP14 0 genome.wustl.edu 37 4 2951857 2951857 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 2951857 2951857 A C SNP NOP14 ENST00000416614 human ensembl 69_37n -1 known silent c.1086 p.G362 0.000 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 134 0 0.00 133 30 18.40 - - - NOP2 0 genome.wustl.edu 37 12 6666517 6666517 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 6666517 6666517 A C SNP NOP2 ENST00000322166 human ensembl 69_37n -1 known missense c.2081 p.V694G 0.000 pfam_P120R pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 189 1 0.52 67 17 20.24 - - - NOP9 0 genome.wustl.edu 37 14 24771255 24771255 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 24771255 24771255 A C SNP NOP9 ENST00000267425 human ensembl 69_37n +1 known missense c.893 p.H298P 0.997 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt - no_errors NOP9 HGNC ENSG00000196943 180 0 0.00 208 38 15.45 - - - NOS1 0 genome.wustl.edu 37 12 117693788 117693788 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 117693788 117693788 A C SNP NOS1 ENST00000338101 human ensembl 69_37n -1 novel silent c.2586 p.G862 0.000 pfam_Flavodoxin/NO_synth,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 59 0 0.00 54 11 16.92 - - - NOS2 0 genome.wustl.edu 37 17 26106011 26106011 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 26106011 26106011 A C SNP NOS2 ENST00000313735 human ensembl 69_37n -1 known missense c.1076 p.V359G 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 109 1 0.90 114 27 19.15 - - - NOS2 0 genome.wustl.edu 37 17 26110032 26110032 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 26110032 26110032 T G SNP NOS2 ENST00000313735 human ensembl 69_37n -1 known missense c.568 p.T190P 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 84 0 0.00 78 18 18.56 - - - NOS2 0 genome.wustl.edu 37 17 26110103 26110103 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 26110103 26110103 A C SNP NOS2 ENST00000313735 human ensembl 69_37n -1 known missense c.497 p.V166G 0.999 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 131 1 0.75 109 25 18.66 - - - NOTCH2 0 genome.wustl.edu 37 1 120458282 120458282 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 120458282 120458282 T G SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known missense c.7063 p.T2355P 0.002 pirsf_Notch pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 137 1 0.72 331 48 12.60 - - - NOTCH4 0 genome.wustl.edu 37 6 32163332 32163335 + Frame_Shift_Del DEL ATGT ATGT - TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 ATGT ATGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 32163332 32163335 ATGT - DEL NOTCH4 ENST00000375023 human ensembl 69_37n -1 known frame_shift_del c.5894_5891 p.N1964fs 0.001:0.001:0.002:0.001 pirsf_Notch,prints_Notch_4 pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 75 0 0.00 64 8 10.96 - - - NOTCH4 0 genome.wustl.edu 37 6 32181908 32181908 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 32181908 32181908 T G SNP NOTCH4 ENST00000375023 human ensembl 69_37n -1 known missense c.2146 p.T716P 1.000 smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Notch,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 227 2 0.86 203 31 13.19 - - - NOTCH4 0 genome.wustl.edu 37 6 32188812 32188812 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 32188812 32188812 T G SNP NOTCH4 ENST00000375023 human ensembl 69_37n -1 known missense c.742 p.T248P 1.000 pfam_EGF-like_dom,smart_EGF-like,pirsf_Notch,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 135 1 0.74 133 20 12.99 - - - NOX1 0 genome.wustl.edu 37 X 100103625 100103625 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 100103625 100103625 T G SNP NOX1 ENST00000372966 human ensembl 69_37n -1 known missense c.1562 p.H521P 0.671 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX1 HGNC ENSG00000007952 92 0 0.00 157 35 18.23 - - - NOX5 0 genome.wustl.edu 37 15 69331272 69331272 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 69331272 69331272 A C SNP NOX5 ENST00000388866 human ensembl 69_37n +1 known missense c.1447 p.T483P 0.845 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NOX5 HGNC ENSG00000255346 276 0 0.00 224 33 12.84 - - - NOX5 0 genome.wustl.edu 37 15 69331302 69331302 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 69331302 69331302 A C SNP NOX5 ENST00000388866 human ensembl 69_37n +1 known missense c.1477 p.T493P 1.000 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NOX5 HGNC ENSG00000255346 234 1 0.43 202 32 13.62 - - - NPAP1 0 genome.wustl.edu 37 15 24922626 24922626 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 24922626 24922626 A C SNP NPAP1 ENST00000329468 human ensembl 69_37n +1 known missense c.1612 p.T538P 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 297 2 0.67 204 42 16.87 - - - NPAP1 0 genome.wustl.edu 37 15 24922852 24922852 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 24922852 24922852 A C SNP NPAP1 ENST00000329468 human ensembl 69_37n +1 known missense c.1838 p.H613P 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 212 2 0.93 102 15 12.82 - - - NPAP1 0 genome.wustl.edu 37 15 24923496 24923496 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 24923496 24923496 A C SNP NPAP1 ENST00000329468 human ensembl 69_37n +1 known missense c.2482 p.T828P 0.001 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 148 0 0.00 100 26 20.47 - - - NPEPPS 0 genome.wustl.edu 37 17 45699243 45699243 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 45699243 45699243 A C SNP NPEPPS ENST00000322157 human ensembl 69_37n +1 known missense c.2717 p.H906P 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 65 0 0.00 49 15 23.44 - - - NPHP3 0 genome.wustl.edu 37 3 132410049 132410049 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 132410049 132410049 T G SNP NPHP3 ENST00000337331 human ensembl 69_37n -1 known missense c.2557 p.T853P 1.000 NULL pfam_TPR-1,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 224 0 0.00 236 40 14.49 - - - NPHS1 0 genome.wustl.edu 37 19 36334456 36334456 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 36334456 36334456 A C SNP NPHS1 ENST00000378910 human ensembl 69_37n -1 known missense c.2252 p.V751G 1.000 smart_Ig_sub,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_I-set,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 NPHS1 HGNC ENSG00000161270 104 0 0.00 61 17 21.79 - - - NPIPL2 0 genome.wustl.edu 37 16 74425471 74425471 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 74425471 74425471 A C SNP NPIPL2 ENST00000429990 human ensembl 69_37n +1 known silent c.825 p.P275 0.000 pfam_NPIP pfam_NPIP - no_errors NPIPL2 HGNC ENSG00000196436 385 2 0.52 311 48 13.37 - - - NPIPP1 0 genome.wustl.edu 37 16 15198433 15198433 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 15198433 15198433 T G SNP NPIPP1 ENST00000534799 human ensembl 69_37n -1 putative missense c.950 p.H317P 0.066 pfam_NPIP pfam_NPIP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NPIPP1 HGNC ENSG00000188599 198 0 0.00 170 39 18.66 - - - NPR2 0 genome.wustl.edu 37 9 35800770 35800770 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 35800770 35800770 T G SNP NPR2 ENST00000342694 human ensembl 69_37n +1 known missense c.1283 p.V428G 1.000 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 140 1 0.70 173 26 13.07 - - - NPVF 0 genome.wustl.edu 37 7 25266291 25266291 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 25266291 25266291 T G SNP NPVF ENST00000222674 human ensembl 69_37n -1 known missense c.493 p.T165P 0.072 NULL NULL - no_errors NPVF HGNC ENSG00000105954 312 1 0.32 267 49 15.46 - - - NPVF 0 genome.wustl.edu 37 7 25266322 25266322 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 25266322 25266322 T G SNP NPVF ENST00000222674 human ensembl 69_37n -1 known silent c.462 p.S154 0.002 NULL NULL - no_errors NPVF HGNC ENSG00000105954 326 0 0.00 285 32 10.06 - - - NR1H3 0 genome.wustl.edu 37 11 47283156 47283156 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 47283156 47283156 A C SNP NR1H3 ENST00000441012 human ensembl 69_37n +1 known missense c.767 p.H256P 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Ecdystd_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_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt - no_errors NR1H3 HGNC ENSG00000025434 62 0 0.00 111 15 11.90 - - - NR4A3 0 genome.wustl.edu 37 9 102589061 102589061 + Missense_Mutation SNP C C G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 102589061 102589061 C G SNP NR4A3 ENST00000330847 human ensembl 69_37n +1 known missense c.9 p.D3E 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 66 0 0.00 36 5 12.20 - - - NRBP1 0 genome.wustl.edu 37 2 27663995 27663995 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 27663995 27663995 T G SNP NRBP1 ENST00000233557 human ensembl 69_37n +1 known missense c.1331 p.V444G 1.000 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 - no_errors NRBP1 HGNC ENSG00000115216 347 2 0.57 243 28 10.33 - - - NRF1 0 genome.wustl.edu 37 7 129330345 129330345 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 129330345 129330345 A C SNP NRF1 ENST00000393231 human ensembl 69_37n +1 known missense c.565 p.T189P 1.000 pfam_Nrf1_NLS/DNA-bd_dimer pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd - no_errors NRF1 HGNC ENSG00000106459 184 1 0.54 193 41 17.52 - - - NRIP1 0 genome.wustl.edu 37 21 16337417 16337417 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 16337417 16337417 A C SNP NRIP1 ENST00000318948 human ensembl 69_37n -1 known missense c.3097 p.C1033G 0.972 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 153 0 0.00 109 21 16.15 - - - NRK 0 genome.wustl.edu 37 X 105167111 105167111 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 105167111 105167111 T G SNP NRK ENST00000428173 human ensembl 69_37n +1 known missense c.2615 p.V872G 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 417 1 0.24 294 41 12.17 - - - NRK 0 genome.wustl.edu 37 X 105167223 105167223 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 105167223 105167223 A C SNP NRK ENST00000428173 human ensembl 69_37n +1 known silent c.2727 p.A909 0.891 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 275 1 0.36 178 39 17.89 - - - NRP1 0 genome.wustl.edu 37 10 33502422 33502422 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 33502422 33502422 A C SNP NRP1 ENST00000265371 human ensembl 69_37n -1 known silent c.1506 p.G502 0.300 pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 319 1 0.31 286 45 13.55 - - - NRXN1 0 genome.wustl.edu 37 2 50318496 50318496 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 50318496 50318496 A C SNP NRXN1 ENST00000402717 human ensembl 69_37n -1 known missense c.3659 p.V1220G 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 199 0 0.00 148 23 13.45 - - - NRXN3 0 genome.wustl.edu 37 14 80164019 80164019 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 80164019 80164019 T G SNP NRXN3 ENST00000554738 human ensembl 69_37n +1 known silent c.3720 p.G1240 0.662 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 189 0 0.00 90 15 14.15 - - - NSRP1 0 genome.wustl.edu 37 17 28512344 28512344 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 28512344 28512344 T G SNP NSRP1 ENST00000247026 human ensembl 69_37n +1 known silent c.1329 p.G443 0.000 NULL pfam_DUF2040 - no_errors NSRP1 HGNC ENSG00000126653 258 2 0.77 207 61 22.76 - - - NT5DC3 0 genome.wustl.edu 37 12 104179221 104179221 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 104179221 104179221 A C SNP NT5DC3 ENST00000392876 human ensembl 69_37n -1 known silent c.1221 p.G407 0.044 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC3 HGNC ENSG00000111696 119 1 0.83 112 29 20.57 - - - NTRK3 0 genome.wustl.edu 37 15 88522401 88522401 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 88522401 88522401 T G SNP NTRK3 ENST00000558306 human ensembl 69_37n -1 putative rna NULL NULL 0.006 - - - no_errors NTRK3 HGNC ENSG00000140538 36 0 0.00 34 12 25.53 - - - NTRK3 0 genome.wustl.edu 37 15 88522426 88522426 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 88522426 88522426 T G SNP NTRK3 ENST00000558306 human ensembl 69_37n -1 putative rna NULL NULL 0.012 - - - no_errors NTRK3 HGNC ENSG00000140538 42 0 0.00 45 12 21.05 - - - NUP214 0 genome.wustl.edu 37 9 134019777 134019777 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 134019777 134019777 A C SNP NUP214 ENST00000451030 human ensembl 69_37n +1 known missense c.1405 p.T469P 0.477 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 810 6 0.73 656 132 16.60 - - - NUP214 0 genome.wustl.edu 37 9 134021645 134021645 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 134021645 134021645 A C SNP NUP214 ENST00000451030 human ensembl 69_37n +1 known silent c.1899 p.P633 0.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 559 2 0.36 412 69 14.26 - - - NUP88 0 genome.wustl.edu 37 17 5291156 5291156 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 5291156 5291156 A C SNP NUP88 ENST00000573584 human ensembl 69_37n -1 known missense c.1712 p.V571G 1.000 pfam_Nucleoporin_Nup88 pfam_Nucleoporin_Nup88 - no_errors NUP88 HGNC ENSG00000108559 107 0 0.00 81 19 18.81 - - - NUPL1 0 genome.wustl.edu 37 13 25912953 25912953 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 25912953 25912953 A C SNP NUPL1 ENST00000466694 human ensembl 69_37n +1 putative rna NULL NULL 0.001 - - - no_errors NUPL1 HGNC ENSG00000139496 47 0 0.00 33 5 13.16 - - - NWD1 0 genome.wustl.edu 37 19 16870217 16870217 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 16870217 16870217 A C SNP NWD1 ENST00000379808 human ensembl 69_37n +1 known missense c.1951 p.T651P 0.293 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 19 0 0.00 9 7 43.75 - - - NXF1 0 genome.wustl.edu 37 11 62571388 62571388 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62571388 62571388 A C SNP NXF1 ENST00000294172 human ensembl 69_37n -1 known missense c.91 p.W31G 1.000 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC ENSG00000162231 227 2 0.87 140 22 13.58 - - - NXF2 0 genome.wustl.edu 37 X 101571969 101571969 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 101571969 101571969 T G SNP NXF2 ENST00000330252 human ensembl 69_37n +1 known silent c.93 p.G31 0.000 NULL pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF2 HGNC ENSG00000185554 62 0 0.00 50 17 25.00 - - - NXF5 0 genome.wustl.edu 37 X 101095499 101095499 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 101095499 101095499 T G SNP NXF5 ENST00000263032 human ensembl 69_37n -1 known missense c.670 p.T224P 0.095 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC ENSG00000126952 209 0 0.00 199 29 12.72 - - - NXPE1 0 genome.wustl.edu 37 11 114393025 114393025 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 114393025 114393025 T G SNP NXPE1 ENST00000424269 human ensembl 69_37n -1 known missense c.1309 p.T437P 0.014 NULL superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 285 1 0.35 191 23 10.70 - - - NXPE1 0 genome.wustl.edu 37 11 114400952 114400952 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 114400952 114400952 T G SNP NXPE1 ENST00000424269 human ensembl 69_37n -1 known missense c.778 p.T260P 0.000 NULL superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 202 1 0.49 157 19 10.80 - - - NXPE4 0 genome.wustl.edu 37 11 114442046 114442046 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 114442046 114442046 T G SNP NXPE4 ENST00000375478 human ensembl 69_37n -1 known missense c.1249 p.T417P 0.001 NULL superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 390 1 0.26 278 64 18.55 - - - NXPE4 0 genome.wustl.edu 37 11 114453533 114453533 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 114453533 114453533 T G SNP NXPE4 ENST00000375478 human ensembl 69_37n -1 known missense c.307 p.T103P 0.752 superfamily_Ig_E-set superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 300 2 0.66 209 33 13.64 - - - NYAP2 0 genome.wustl.edu 37 2 226516194 226516194 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 226516194 226516194 T G SNP NYAP2 ENST00000272907 human ensembl 69_37n +1 known silent c.1875 p.G625 0.966 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 577 3 0.52 481 73 13.08 - - - NYNRIN 0 genome.wustl.edu 37 14 24877202 24877202 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 24877202 24877202 A C SNP NYNRIN ENST00000382554 human ensembl 69_37n +1 known missense c.326 p.Y109S 0.951 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 55 0 0.00 55 11 16.67 - - - NYNRIN 0 genome.wustl.edu 37 14 24886336 24886336 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 24886336 24886336 T G SNP NYNRIN ENST00000382554 human ensembl 69_37n +1 known missense c.5381 p.V1794G 0.000 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 41 0 0.00 26 7 21.21 - - - OAS2 0 genome.wustl.edu 37 12 113446925 113446925 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 113446925 113446925 T G SNP OAS2 ENST00000342315 human ensembl 69_37n +1 known silent c.1929 p.G643 0.010 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 266 1 0.37 291 61 17.28 - - - OAS3 0 genome.wustl.edu 37 12 113400596 113400596 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 113400596 113400596 T G SNP OAS3 ENST00000228928 human ensembl 69_37n +1 known missense c.1973 p.V658G 0.001 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 229 2 0.85 190 27 12.39 - - - OBSCN 0 genome.wustl.edu 37 1 228412169 228412169 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 228412169 228412169 T G SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known missense c.2663 p.V888G 0.000 pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 72 0 0.00 68 30 30.00 - - - OBSCN 0 genome.wustl.edu 37 1 228452078 228452078 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 228452078 228452078 A C SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known missense c.4847 p.H1616P 0.007 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 24 0 0.00 29 13 29.55 - - - ODAM 0 genome.wustl.edu 37 4 71063772 71063772 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 71063772 71063772 A C SNP ODAM ENST00000396094 human ensembl 69_37n +1 known silent c.273 p.I91 0.042 NULL NULL - no_errors ODAM HGNC ENSG00000109205 385 3 0.77 297 43 12.61 - - - ODF3L1 0 genome.wustl.edu 37 15 76019411 76019411 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 76019411 76019411 A C SNP ODF3L1 ENST00000332145 human ensembl 69_37n +1 known missense c.355 p.T119P 0.067 NULL pfam_SHIPPO-rpt - no_errors ODF3L1 HGNC ENSG00000182950 116 1 0.85 76 24 23.76 - - - ODF4 0 genome.wustl.edu 37 17 8248663 8248663 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 8248663 8248663 A C SNP ODF4 ENST00000328248 human ensembl 69_37n +1 known missense c.457 p.T153P 0.000 NULL NULL - no_errors ODF4 HGNC ENSG00000184650 168 1 0.59 106 20 15.87 - - - ODZ1 0 genome.wustl.edu 37 X 123695592 123695592 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 123695592 123695592 A C SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known missense c.2363 p.V788G 1.000 smart_EGF-like,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 294 2 0.68 286 70 19.50 - - - ODZ1 0 genome.wustl.edu 37 X 123779165 123779165 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 123779165 123779165 A C SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known silent c.1704 p.G568 1.000 smart_EGF-like pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 394 0 0.00 377 44 10.43 - - - ODZ1 0 genome.wustl.edu 37 X 123787528 123787528 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 123787528 123787528 T G SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known missense c.1274 p.H425P 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 285 0 0.00 263 62 19.08 - - - ODZ4 0 genome.wustl.edu 37 11 78399221 78399221 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 78399221 78399221 A C SNP ODZ4 ENST00000278550 human ensembl 69_37n -1 known missense c.5138 p.V1713G 1.000 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ4 HGNC ENSG00000149256 254 2 0.78 138 32 18.82 - - - ODZ4 0 genome.wustl.edu 37 11 78443546 78443546 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 78443546 78443546 T G SNP ODZ4 ENST00000278550 human ensembl 69_37n -1 known missense c.2953 p.T985P 1.000 superfamily_CarboxyPept-like_regulatory pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ4 HGNC ENSG00000149256 66 0 0.00 58 11 15.94 - - - OIT3 0 genome.wustl.edu 37 10 74666391 74666391 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 74666391 74666391 T G SNP OIT3 ENST00000334011 human ensembl 69_37n +1 known missense c.582 p.S194R 1.000 smart_EGF-like_Ca-bd,smart_EGF-like pfam_Zona_pellucida_Endoglin/CD105,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors OIT3 HGNC ENSG00000138315 232 0 0.00 200 34 14.41 - - - OLFM2 0 genome.wustl.edu 37 19 9968061 9968061 + Splice_Site SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9968061 9968061 A C SNP OLFM2 ENST00000592448 human ensembl 69_37n -1 known splice_site c.222+2 e2+2 1.000 - - - no_errors OLFM2 HGNC ENSG00000105088 110 0 0.00 99 19 16.10 - - - OLFM3 0 genome.wustl.edu 37 1 102270205 102270205 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 102270205 102270205 A C SNP OLFM3 ENST00000338858 human ensembl 69_37n -1 known silent c.1026 p.G342 0.996 pfam_Olfac-like,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 166 0 0.00 115 24 17.27 - - - OPHN1 0 genome.wustl.edu 37 X 67412614 67412614 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 67412614 67412614 T G SNP OPHN1 ENST00000467444 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors OPHN1 HGNC ENSG00000079482 35 0 0.00 28 12 30.00 - - - OPN1LW 0 genome.wustl.edu 37 X 153421833 153421833 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 153421833 153421833 T G SNP OPN1LW ENST00000369951 human ensembl 69_37n +1 known missense c.809 p.V270G 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_red/grn,prints_7TM_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 612 1 0.16 507 92 15.31 - - - OR10C1 0 genome.wustl.edu 37 6 29408253 29408253 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 29408253 29408253 T G SNP OR10C1 ENST00000444197 human ensembl 69_37n +1 known missense c.461 p.V154G 0.699 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10C1 HGNC ENSG00000206474 274 2 0.72 285 36 11.21 - - - OR10G4 0 genome.wustl.edu 37 11 123886699 123886699 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 123886699 123886699 T G SNP OR10G4 ENST00000320891 human ensembl 69_37n +1 known missense c.418 p.C140G 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 370 0 0.00 253 35 12.11 - - - OR10G7 0 genome.wustl.edu 37 11 123909465 123909465 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 123909465 123909465 T G SNP OR10G7 ENST00000330487 human ensembl 69_37n -1 known missense c.244 p.T82P 0.123 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 OR10G7 HGNC ENSG00000182634 339 2 0.59 229 30 11.41 - - - OR10G9 0 genome.wustl.edu 37 11 123894290 123894290 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 123894290 123894290 A C SNP OR10G9 ENST00000375024 human ensembl 69_37n +1 known missense c.571 p.T191P 0.195 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 296 1 0.34 210 36 14.46 - - - OR10H3 0 genome.wustl.edu 37 19 15852482 15852482 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 15852482 15852482 A C SNP OR10H3 ENST00000305892 human ensembl 69_37n +1 known missense c.280 p.T94P 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10H3 HGNC ENSG00000171936 685 0 0.00 826 97 10.44 - - - OR10H3 0 genome.wustl.edu 37 19 15853052 15853052 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 15853052 15853052 A C SNP OR10H3 ENST00000305892 human ensembl 69_37n +1 known missense c.850 p.T284P 0.092 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10H3 HGNC ENSG00000171936 458 1 0.22 500 75 13.00 - - - OR10H4 0 genome.wustl.edu 37 19 16060554 16060554 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 16060554 16060554 A C SNP OR10H4 ENST00000322107 human ensembl 69_37n +1 known missense c.737 p.H246P 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10H4 HGNC ENSG00000176231 231 1 0.43 277 46 14.20 - - - OR10T2 0 genome.wustl.edu 37 1 158368584 158368584 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 158368584 158368584 T G SNP OR10T2 ENST00000334438 human ensembl 69_37n -1 known missense c.673 p.T225P 0.942 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 OR10T2 HGNC ENSG00000186306 103 0 0.00 125 16 11.35 - - - OR11L1 0 genome.wustl.edu 37 1 248004405 248004405 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 248004405 248004405 T G SNP OR11L1 ENST00000355784 human ensembl 69_37n -1 known missense c.794 p.H265P 0.000 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 OR11L1 HGNC ENSG00000197591 120 1 0.82 193 26 11.82 - - - OR11L1 0 genome.wustl.edu 37 1 248004508 248004508 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 248004508 248004508 T G SNP OR11L1 ENST00000355784 human ensembl 69_37n -1 known missense c.691 p.T231P 0.000 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 OR11L1 HGNC ENSG00000197591 131 1 0.75 212 41 16.14 - - - OR13C8 0 genome.wustl.edu 37 9 107331609 107331609 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 107331609 107331609 A C SNP OR13C8 ENST00000335040 human ensembl 69_37n +1 known missense c.161 p.H54P 0.977 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 OR13C8 HGNC ENSG00000186943 406 1 0.25 298 51 14.49 - - - OR13C8 0 genome.wustl.edu 37 9 107331617 107331617 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 107331617 107331617 A C SNP OR13C8 ENST00000335040 human ensembl 69_37n +1 known missense c.169 p.T57P 0.978 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 OR13C8 HGNC ENSG00000186943 405 1 0.25 302 58 16.07 - - - OR14C36 0 genome.wustl.edu 37 1 248512218 248512218 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 248512218 248512218 A C SNP OR14C36 ENST00000317861 human ensembl 69_37n +1 known missense c.142 p.T48P 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR14C36 HGNC ENSG00000177174 251 0 0.00 279 35 11.11 - - - OR14C36 0 genome.wustl.edu 37 1 248512856 248512856 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 248512856 248512856 A C SNP OR14C36 ENST00000317861 human ensembl 69_37n +1 known silent c.780 p.P260 0.749 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR14C36 HGNC ENSG00000177174 183 0 0.00 183 30 14.02 - - - OR1A1 0 genome.wustl.edu 37 17 3119602 3119602 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 3119602 3119602 A C SNP OR1A1 ENST00000304094 human ensembl 69_37n +1 known missense c.688 p.T230P 0.002 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR1A1 HGNC ENSG00000172146 344 2 0.57 395 55 12.11 - - - OR1A1 0 genome.wustl.edu 37 17 3119642 3119642 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 3119642 3119642 A C SNP OR1A1 ENST00000304094 human ensembl 69_37n +1 known missense c.728 p.H243P 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR1A1 HGNC ENSG00000172146 313 1 0.32 337 47 12.18 - - - OR1B1 0 genome.wustl.edu 37 9 125391705 125391705 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 125391705 125391705 T G SNP OR1B1 ENST00000304833 human ensembl 69_37n -1 novel missense c.110 p.Y37S 0.996 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR1B1 HGNC ENSG00000171484 181 0 0.00 204 30 12.82 - - - OR1D2 0 genome.wustl.edu 37 17 2995891 2995891 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 2995891 2995891 T G SNP OR1D2 ENST00000331459 human ensembl 69_37n -1 known missense c.400 p.T134P 0.040 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1D2 HGNC ENSG00000184166 258 2 0.77 267 38 12.46 - - - OR1J4 0 genome.wustl.edu 37 9 125281936 125281936 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 125281936 125281936 A C SNP OR1J4 ENST00000340750 human ensembl 69_37n +1 known missense c.517 p.T173P 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1J4 HGNC ENSG00000239590 207 1 0.48 178 30 14.35 - - - OR1L3 0 genome.wustl.edu 37 9 125437907 125437907 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 125437907 125437907 A C SNP OR1L3 ENST00000304820 human ensembl 69_37n +1 known missense c.499 p.T167P 0.035 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1L3 HGNC ENSG00000171481 710 1 0.14 498 60 10.71 - - - OR1L6 0 genome.wustl.edu 37 9 125512860 125512860 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 125512860 125512860 A C SNP OR1L6 ENST00000373684 human ensembl 69_37n +1 known missense c.842 p.H281P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1L6 HGNC ENSG00000171459 243 1 0.41 231 55 19.16 - - - OR2A4 0 genome.wustl.edu 37 6 132022351 132022351 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 132022351 132022351 T G SNP OR2A4 ENST00000315453 human ensembl 69_37n -1 known missense c.191 p.H64P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors OR2A4 HGNC ENSG00000180658 55 0 0.00 33 9 21.43 - - - OR2AK2 0 genome.wustl.edu 37 1 248128775 248128775 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 248128775 248128775 A C SNP OR2AK2 ENST00000366480 human ensembl 69_37n +1 known missense c.142 p.T48P 0.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2AK2 HGNC ENSG00000187080 518 2 0.38 583 65 10.00 - - - OR2C1 0 genome.wustl.edu 37 16 3406268 3406268 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 3406268 3406268 A C SNP OR2C1 ENST00000304936 human ensembl 69_37n +1 known missense c.328 p.T110P 0.070 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2C1 HGNC ENSG00000168158 83 0 0.00 107 22 16.79 - - - OR2F1 0 genome.wustl.edu 37 7 143657253 143657253 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 143657253 143657253 A C SNP OR2F1 ENST00000392899 human ensembl 69_37n +1 known missense c.190 p.T64P 0.947 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2F1 HGNC ENSG00000213215 646 3 0.46 449 68 13.13 - - - OR2H2 0 genome.wustl.edu 37 6 29556202 29556202 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 29556202 29556202 A C SNP OR2H2 ENST00000383640 human ensembl 69_37n +1 known missense c.481 p.T161P 0.059 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2H2 HGNC ENSG00000204657 308 3 0.95 255 60 18.99 - - - OR2H2 0 genome.wustl.edu 37 6 29556460 29556460 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 29556460 29556460 A C SNP OR2H2 ENST00000383640 human ensembl 69_37n +1 known missense c.739 p.T247P 0.148 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2H2 HGNC ENSG00000204657 276 2 0.72 241 37 13.26 - - - OR2J1 0 genome.wustl.edu 37 6 29069072 29069072 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 29069072 29069072 T G SNP OR2J1 ENST00000377171 human ensembl 69_37n +1 known missense c.353 p.V118G 0.997 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2J1 HGNC ENSG00000204702 393 1 0.25 317 46 12.67 - - - OR2J1 0 genome.wustl.edu 37 6 29069220 29069220 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 29069220 29069220 A C SNP OR2J1 ENST00000377171 human ensembl 69_37n +1 known silent c.501 p.I167 0.028 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2J1 HGNC ENSG00000204702 338 0 0.00 229 29 11.24 - - - OR2J2 0 genome.wustl.edu 37 6 29141989 29141989 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 29141989 29141989 A C SNP OR2J2 ENST00000377167 human ensembl 69_37n +1 known missense c.577 p.T193P 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2J2 HGNC ENSG00000204700 363 0 0.00 296 33 10.00 - - - OR2J3 0 genome.wustl.edu 37 6 29080101 29080101 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 29080101 29080101 A C SNP OR2J3 ENST00000377169 human ensembl 69_37n +1 known missense c.434 p.H145P 0.727 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2J3 HGNC ENSG00000204701 322 0 0.00 306 57 15.66 - - - OR2J3 0 genome.wustl.edu 37 6 29080163 29080163 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 29080163 29080163 A C SNP OR2J3 ENST00000377169 human ensembl 69_37n +1 known missense c.496 p.T166P 0.007 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2J3 HGNC ENSG00000204701 263 2 0.74 182 56 23.53 - - - OR2M5 0 genome.wustl.edu 37 1 248309180 248309180 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 248309180 248309180 A C SNP OR2M5 ENST00000366476 human ensembl 69_37n +1 known missense c.731 p.H244P 0.996 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 428 0 0.00 560 79 12.36 - - - OR2T1 0 genome.wustl.edu 37 1 248569616 248569616 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 248569616 248569616 A C SNP OR2T1 ENST00000366474 human ensembl 69_37n +1 known silent c.321 p.T107 0.007 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 OR2T1 HGNC ENSG00000175143 219 0 0.00 294 37 11.14 - - - OR2Z1 0 genome.wustl.edu 37 19 8841619 8841619 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 8841619 8841619 A C SNP OR2Z1 ENST00000324060 human ensembl 69_37n +1 known missense c.229 p.T77P 0.646 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 120 1 0.83 135 19 12.26 - - - OR4A15 0 genome.wustl.edu 37 11 55135846 55135846 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55135846 55135846 A C SNP OR4A15 ENST00000314706 human ensembl 69_37n +1 known missense c.487 p.T163P 0.163 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4A15 HGNC ENSG00000181958 368 0 0.00 261 33 11.19 - - - OR4A16 0 genome.wustl.edu 37 11 55111279 55111279 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55111279 55111279 T G SNP OR4A16 ENST00000314721 human ensembl 69_37n +1 known silent c.603 p.G201 0.108 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 OR4A16 HGNC ENSG00000181961 316 0 0.00 180 20 10.00 - - - OR4B1 0 genome.wustl.edu 37 11 48238444 48238444 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 48238444 48238444 T G SNP OR4B1 ENST00000309562 human ensembl 69_37n +1 known missense c.83 p.V28G 0.184 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4B1 HGNC ENSG00000175619 214 0 0.00 318 36 10.17 - - - OR4C46 0 genome.wustl.edu 37 11 51515990 51515990 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 51515990 51515990 A C SNP OR4C46 ENST00000328188 human ensembl 69_37n +1 known missense c.709 p.T237P 1.000 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4C46 HGNC ENSG00000185926 158 1 0.63 98 23 18.55 - - - OR4C6 0 genome.wustl.edu 37 11 55433074 55433074 + Silent SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55433074 55433074 A G SNP OR4C6 ENST00000314259 human ensembl 69_37n +1 known silent c.432 p.G144 0.000 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 OR4C6 HGNC ENSG00000181903 301 1 0.33 237 31 11.57 - - - OR4C6 0 genome.wustl.edu 37 11 55433430 55433430 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55433430 55433430 A C SNP OR4C6 ENST00000314259 human ensembl 69_37n +1 known missense c.788 p.H263P 0.000 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 OR4C6 HGNC ENSG00000181903 300 1 0.33 206 30 12.71 - - - OR4D10 0 genome.wustl.edu 37 11 59245689 59245689 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 59245689 59245689 A C SNP OR4D10 ENST00000530162 human ensembl 69_37n +1 known missense c.787 p.T263P 0.716 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 OR4D10 HGNC ENSG00000254466 247 0 0.00 237 31 11.57 - - - OR4D11 0 genome.wustl.edu 37 11 59271868 59271868 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 59271868 59271868 A C SNP OR4D11 ENST00000313253 human ensembl 69_37n +1 known missense c.820 p.T274P 0.941 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4D11 HGNC ENSG00000176200 233 1 0.43 191 38 16.45 - - - OR4D5 0 genome.wustl.edu 37 11 123811038 123811038 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 123811038 123811038 A C SNP OR4D5 ENST00000307033 human ensembl 69_37n +1 known missense c.715 p.T239P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 269 1 0.37 215 27 11.11 - - - OR4K1 0 genome.wustl.edu 37 14 20403851 20403851 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 20403851 20403851 T G SNP OR4K1 ENST00000285600 human ensembl 69_37n +1 known missense c.26 p.V9G 0.235 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 648 2 0.31 450 59 11.59 - - - OR4K1 0 genome.wustl.edu 37 14 20404057 20404057 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 20404057 20404057 A C SNP OR4K1 ENST00000285600 human ensembl 69_37n +1 known missense c.232 p.T78P 0.034 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 509 3 0.58 374 59 13.56 - - - OR4K2 0 genome.wustl.edu 37 14 20344658 20344658 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 20344658 20344658 A C SNP OR4K2 ENST00000298642 human ensembl 69_37n +1 known missense c.232 p.T78P 0.997 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4K2 HGNC ENSG00000165762 595 3 0.50 552 63 10.23 - - - OR4K2 0 genome.wustl.edu 37 14 20344740 20344740 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 20344740 20344740 A C SNP OR4K2 ENST00000298642 human ensembl 69_37n +1 known missense c.314 p.H105P 0.688 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4K2 HGNC ENSG00000165762 585 2 0.34 474 70 12.84 - - - OR4L1 0 genome.wustl.edu 37 14 20528783 20528783 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 20528783 20528783 A C SNP OR4L1 ENST00000315683 human ensembl 69_37n +1 known missense c.580 p.T194P 0.002 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4L1 HGNC ENSG00000176246 212 1 0.47 165 34 17.09 - - - OR4M1 0 genome.wustl.edu 37 14 20249202 20249202 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 20249202 20249202 A C SNP OR4M1 ENST00000315957 human ensembl 69_37n +1 known missense c.721 p.T241P 1.000 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4M1 HGNC ENSG00000176299 490 3 0.61 364 56 13.30 - - - OR4M2 0 genome.wustl.edu 37 15 22369149 22369149 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 22369149 22369149 A C SNP OR4M2 ENST00000332663 human ensembl 69_37n +1 known missense c.574 p.T192P 0.075 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 1084 5 0.46 925 105 10.13 - - - OR4M2 0 genome.wustl.edu 37 15 22369296 22369296 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 22369296 22369296 A C SNP OR4M2 ENST00000332663 human ensembl 69_37n +1 known missense c.721 p.T241P 0.990 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 705 1 0.14 561 88 13.56 - - - OR4N2 0 genome.wustl.edu 37 14 20296469 20296469 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 20296469 20296469 A C SNP OR4N2 ENST00000315947 human ensembl 69_37n +1 known missense c.862 p.T288P 0.995 prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 346 1 0.29 237 53 18.28 - - - OR4S2 0 genome.wustl.edu 37 11 55418918 55418918 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55418918 55418918 A C SNP OR4S2 ENST00000312422 human ensembl 69_37n +1 known missense c.539 p.H180P 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 448 0 0.00 265 36 11.96 - - - OR4S2 0 genome.wustl.edu 37 11 55419088 55419088 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55419088 55419088 A C SNP OR4S2 ENST00000312422 human ensembl 69_37n +1 known missense c.709 p.T237P 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 349 0 0.00 203 27 11.74 - - - OR51B4 0 genome.wustl.edu 37 11 5322888 5322888 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 5322888 5322888 T G SNP OR51B4 ENST00000380224 human ensembl 69_37n -1 known missense c.289 p.T97P 0.014 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51B4 HGNC ENSG00000183251 185 0 0.00 275 31 10.10 - - - OR51Q1 0 genome.wustl.edu 37 11 5444285 5444285 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 5444285 5444285 A C SNP OR51Q1 ENST00000300778 human ensembl 69_37n +1 known silent c.855 p.A285 0.387 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51Q1 HGNC ENSG00000167360 130 1 0.76 144 32 18.18 - - - OR51V1 0 genome.wustl.edu 37 11 5221377 5221377 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 5221377 5221377 T G SNP OR51V1 ENST00000321255 human ensembl 69_37n -1 known missense c.554 p.H185P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51V1 HGNC ENSG00000176742 177 1 0.56 164 25 13.23 - - - OR52K2 0 genome.wustl.edu 37 11 4471427 4471427 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 4471427 4471427 A C SNP OR52K2 ENST00000325719 human ensembl 69_37n +1 known silent c.858 p.P286 0.999 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR52K2 HGNC ENSG00000181963 828 8 0.95 744 145 16.22 - - - OR52M1 0 genome.wustl.edu 37 11 4566807 4566807 + Silent SNP C C T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 4566807 4566807 C T SNP OR52M1 ENST00000360213 human ensembl 69_37n +1 known silent c.387 p.C129 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR52M1 HGNC ENSG00000197790 212 0 0.00 144 89 38.20 - - - OR52W1 0 genome.wustl.edu 37 11 6220481 6220481 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 6220481 6220481 A C SNP OR52W1 ENST00000311352 human ensembl 69_37n +1 known missense c.28 p.T10P 0.970 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt - no_errors OR52W1 HGNC ENSG00000175485 270 2 0.74 201 52 20.55 - - - OR52W1 0 genome.wustl.edu 37 11 6221334 6221334 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 6221334 6221334 A C SNP OR52W1 ENST00000311352 human ensembl 69_37n +1 known missense c.881 p.N294T 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt - no_errors OR52W1 HGNC ENSG00000175485 554 3 0.54 446 82 15.44 - - - OR5AN1 0 genome.wustl.edu 37 11 59132345 59132345 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 59132345 59132345 A C SNP OR5AN1 ENST00000313940 human ensembl 69_37n +1 known silent c.414 p.S138 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5AN1 HGNC ENSG00000176495 270 2 0.73 199 31 13.36 - - - OR5AR1 0 genome.wustl.edu 37 11 56431561 56431561 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 56431561 56431561 A C SNP OR5AR1 ENST00000302969 human ensembl 69_37n +1 known missense c.400 p.T134P 0.005 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 359 3 0.82 241 41 14.49 - - - OR5AR1 0 genome.wustl.edu 37 11 56431789 56431789 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 56431789 56431789 A C SNP OR5AR1 ENST00000302969 human ensembl 69_37n +1 known missense c.628 p.T210P 1.000 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 OR5AR1 HGNC ENSG00000172459 274 0 0.00 163 39 19.21 - - - OR5AR1 0 genome.wustl.edu 37 11 56431879 56431879 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 56431879 56431879 A C SNP OR5AR1 ENST00000302969 human ensembl 69_37n +1 known missense c.718 p.T240P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 204 1 0.49 117 28 19.31 - - - OR5AS1 0 genome.wustl.edu 37 11 55798440 55798440 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55798440 55798440 A C SNP OR5AS1 ENST00000313555 human ensembl 69_37n +1 known silent c.546 p.P182 0.008 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5AS1 HGNC ENSG00000181785 405 2 0.49 212 38 15.20 - - - OR5AS1 0 genome.wustl.edu 37 11 55798639 55798639 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55798639 55798639 A C SNP OR5AS1 ENST00000313555 human ensembl 69_37n +1 known missense c.745 p.T249P 0.049 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 OR5AS1 HGNC ENSG00000181785 272 1 0.36 129 23 15.03 - - - OR5C1 0 genome.wustl.edu 37 9 125551610 125551610 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 125551610 125551610 A C SNP OR5C1 ENST00000373680 human ensembl 69_37n +1 known silent c.399 p.P133 0.315 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5C1 HGNC ENSG00000148215 161 0 0.00 167 23 11.98 - - - OR5D16 0 genome.wustl.edu 37 11 55606427 55606427 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55606427 55606427 A C SNP OR5D16 ENST00000378396 human ensembl 69_37n +1 known missense c.200 p.H67P 0.971 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5D16 HGNC ENSG00000205029 526 2 0.38 325 58 15.10 - - - OR5D16 0 genome.wustl.edu 37 11 55606978 55606978 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55606978 55606978 A C SNP OR5D16 ENST00000378396 human ensembl 69_37n +1 known missense c.751 p.T251P 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5D16 HGNC ENSG00000205029 249 1 0.40 168 33 16.26 - - - OR5D16 0 genome.wustl.edu 37 11 55606993 55606993 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55606993 55606993 A C SNP OR5D16 ENST00000378396 human ensembl 69_37n +1 known missense c.766 p.T256P 0.283 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5D16 HGNC ENSG00000205029 232 0 0.00 151 30 16.39 - - - OR5D18 0 genome.wustl.edu 37 11 55587718 55587718 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55587718 55587718 A C SNP OR5D18 ENST00000333976 human ensembl 69_37n +1 known missense c.613 p.T205P 0.002 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5D18 HGNC ENSG00000186119 308 1 0.32 173 20 10.26 - - - OR5J2 0 genome.wustl.edu 37 11 55944811 55944811 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55944811 55944811 A C SNP OR5J2 ENST00000312298 human ensembl 69_37n +1 known missense c.718 p.T240P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 161 0 0.00 98 21 17.65 - - - OR5K3 0 genome.wustl.edu 37 3 98109909 98109909 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 98109909 98109909 A C SNP OR5K3 ENST00000383695 human ensembl 69_37n +1 known missense c.400 p.T134P 0.076 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5K3 HGNC ENSG00000206536 424 2 0.47 305 54 15.04 - - - OR5K4 0 genome.wustl.edu 37 3 98073080 98073080 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 98073080 98073080 A C SNP OR5K4 ENST00000354924 human ensembl 69_37n +1 known missense c.383 p.H128P 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5K4 HGNC ENSG00000196098 500 2 0.40 339 57 14.39 - - - OR5L1 0 genome.wustl.edu 37 11 55579660 55579660 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55579660 55579660 A C SNP OR5L1 ENST00000333973 human ensembl 69_37n +1 known missense c.718 p.T240P 0.999 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5L1 HGNC ENSG00000186117 182 1 0.54 108 28 20.44 - - - OR5L1 0 genome.wustl.edu 37 11 55579673 55579673 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55579673 55579673 A C SNP OR5L1 ENST00000333973 human ensembl 69_37n +1 known missense c.731 p.H244P 0.999 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5L1 HGNC ENSG00000186117 177 0 0.00 99 30 23.26 - - - OR5L2 0 genome.wustl.edu 37 11 55594863 55594863 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55594863 55594863 A C SNP OR5L2 ENST00000378397 human ensembl 69_37n +1 known missense c.169 p.T57P 0.018 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 OR5L2 HGNC ENSG00000205030 597 2 0.33 365 100 21.51 - - - OR5L2 0 genome.wustl.edu 37 11 55595347 55595347 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55595347 55595347 A C SNP OR5L2 ENST00000378397 human ensembl 69_37n +1 known missense c.653 p.Y218S 0.993 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 293 3 1.00 227 30 11.63 - - - OR5L2 0 genome.wustl.edu 37 11 55595412 55595412 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55595412 55595412 A C SNP OR5L2 ENST00000378397 human ensembl 69_37n +1 known missense c.718 p.T240P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 277 0 0.00 175 60 25.42 - - - OR5L2 0 genome.wustl.edu 37 11 55595425 55595425 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55595425 55595425 A C SNP OR5L2 ENST00000378397 human ensembl 69_37n +1 known missense c.731 p.H244P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 275 1 0.36 183 52 21.94 - - - OR5M1 0 genome.wustl.edu 37 11 56380818 56380818 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 56380818 56380818 T G SNP OR5M1 ENST00000526538 human ensembl 69_37n -1 known missense c.161 p.H54P 0.025 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5M1 HGNC ENSG00000255012 229 0 0.00 219 31 12.40 - - - OR5M11 0 genome.wustl.edu 37 11 56309992 56309992 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 56309992 56309992 T G SNP OR5M11 ENST00000528616 human ensembl 69_37n -1 known missense c.742 p.T248P 0.023 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 OR5M11 HGNC ENSG00000255223 220 1 0.45 136 24 15.00 - - - OR5P2 0 genome.wustl.edu 37 11 7817784 7817784 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 7817784 7817784 T G SNP OR5P2 ENST00000329434 human ensembl 69_37n -1 known missense c.706 p.T236P 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5P2 HGNC ENSG00000183303 197 0 0.00 201 29 12.50 - - - OR5R1 0 genome.wustl.edu 37 11 56184991 56184991 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 56184991 56184991 T G SNP OR5R1 ENST00000312253 human ensembl 69_37n -1 known missense c.718 p.T240P 0.997 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 234 0 0.00 111 19 14.50 - - - OR5T1 0 genome.wustl.edu 37 11 56043561 56043561 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 56043561 56043561 A C SNP OR5T1 ENST00000313033 human ensembl 69_37n +1 known silent c.447 p.S149 0.101 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 373 0 0.00 307 37 10.69 - - - OR6C2 0 genome.wustl.edu 37 12 55846619 55846619 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 55846619 55846619 A C SNP OR6C2 ENST00000322678 human ensembl 69_37n +1 known missense c.622 p.T208P 0.191 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6C2 HGNC ENSG00000179695 254 0 0.00 229 36 13.48 - - - OR6C75 0 genome.wustl.edu 37 12 55759033 55759033 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 55759033 55759033 A C SNP OR6C75 ENST00000343399 human ensembl 69_37n +1 known missense c.139 p.T47P 0.907 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6C75 HGNC ENSG00000187857 376 0 0.00 310 65 17.11 - - - OR6K6 0 genome.wustl.edu 37 1 158725182 158725182 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 158725182 158725182 A C SNP OR6K6 ENST00000368144 human ensembl 69_37n +1 known missense c.577 p.T193P 0.005 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 OR6K6 HGNC ENSG00000180433 120 0 0.00 187 42 18.26 - - - OR6M1 0 genome.wustl.edu 37 11 123676376 123676376 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 123676376 123676376 T G SNP OR6M1 ENST00000309154 human ensembl 69_37n -1 known missense c.682 p.T228P 0.001 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 OR6M1 HGNC ENSG00000196099 207 0 0.00 93 15 13.89 - - - OR6M1 0 genome.wustl.edu 37 11 123676832 123676832 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 123676832 123676832 T G SNP OR6M1 ENST00000309154 human ensembl 69_37n -1 known missense c.226 p.T76P 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6M1 HGNC ENSG00000196099 352 0 0.00 226 32 12.31 - - - OR6Q1 0 genome.wustl.edu 37 11 57798542 57798542 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 57798542 57798542 A C SNP OR6Q1 ENST00000302622 human ensembl 69_37n +1 known missense c.118 p.T40P 0.327 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6Q1 HGNC ENSG00000172381 341 2 0.58 264 32 10.81 - - - OR6Q1 0 genome.wustl.edu 37 11 57798588 57798588 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 57798588 57798588 A C SNP OR6Q1 ENST00000302622 human ensembl 69_37n +1 known missense c.164 p.H55P 0.519 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 OR6Q1 HGNC ENSG00000172381 321 1 0.31 231 31 11.83 - - - OR6V1 0 genome.wustl.edu 37 7 142749602 142749602 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 142749602 142749602 A C SNP OR6V1 ENST00000418316 human ensembl 69_37n +1 known silent c.165 p.T55 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6V1 HGNC ENSG00000225781 371 0 0.00 354 41 10.35 - - - OR6V1 0 genome.wustl.edu 37 7 142749759 142749759 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 142749759 142749759 A C SNP OR6V1 ENST00000418316 human ensembl 69_37n +1 known missense c.322 p.T108P 0.049 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6V1 HGNC ENSG00000225781 271 1 0.36 234 51 17.71 - - - OR6V1 0 genome.wustl.edu 37 7 142750149 142750149 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 142750149 142750149 A C SNP OR6V1 ENST00000418316 human ensembl 69_37n +1 known missense c.712 p.T238P 0.995 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6V1 HGNC ENSG00000225781 222 1 0.45 183 25 12.02 - - - OR6X1 0 genome.wustl.edu 37 11 123624773 123624773 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 123624773 123624773 T G SNP OR6X1 ENST00000327930 human ensembl 69_37n -1 known missense c.454 p.T152P 0.000 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 OR6X1 HGNC ENSG00000221931 130 1 0.76 95 17 15.18 - - - OR6X1 0 genome.wustl.edu 37 11 123624922 123624922 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 123624922 123624922 T G SNP OR6X1 ENST00000327930 human ensembl 69_37n -1 known missense c.305 p.H102P 0.966 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6X1 HGNC ENSG00000221931 139 0 0.00 84 18 17.65 - - - OR7D2 0 genome.wustl.edu 37 19 9296873 9296873 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9296873 9296873 A C SNP OR7D2 ENST00000344248 human ensembl 69_37n +1 known missense c.416 p.H139P 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR7D2 HGNC ENSG00000188000 353 2 0.56 353 72 16.78 - - - OR8A1 0 genome.wustl.edu 37 11 124440743 124440743 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 124440743 124440743 A C SNP OR8A1 ENST00000284287 human ensembl 69_37n +1 known missense c.779 p.H260P 1.000 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR8A1 HGNC ENSG00000196119 189 1 0.53 142 42 22.58 - - - OR8B3 0 genome.wustl.edu 37 11 124266658 124266658 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 124266658 124266658 A C SNP OR8B3 ENST00000354597 human ensembl 69_37n -1 known missense c.590 p.V197G 0.005 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 OR8B3 HGNC ENSG00000196661 246 0 0.00 142 25 14.79 - - - OR8H2 0 genome.wustl.edu 37 11 55872856 55872856 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55872856 55872856 A C SNP OR8H2 ENST00000313503 human ensembl 69_37n +1 known missense c.338 p.Y113S 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 530 2 0.38 368 51 12.14 - - - OR8H2 0 genome.wustl.edu 37 11 55873134 55873134 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55873134 55873134 A C SNP OR8H2 ENST00000313503 human ensembl 69_37n +1 known missense c.616 p.T206P 0.000 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 OR8H2 HGNC ENSG00000181767 372 1 0.27 209 39 15.73 - - - OR8H3 0 genome.wustl.edu 37 11 55890464 55890464 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 55890464 55890464 A C SNP OR8H3 ENST00000313472 human ensembl 69_37n +1 known missense c.616 p.T206P 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR8H3 HGNC ENSG00000181761 312 0 0.00 200 48 19.28 - - - OR8J1 0 genome.wustl.edu 37 11 56127867 56127867 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 56127867 56127867 A C SNP OR8J1 ENST00000303039 human ensembl 69_37n +1 known missense c.145 p.T49P 0.738 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR8J1 HGNC ENSG00000172487 298 0 0.00 229 28 10.89 - - - OR9A4 0 genome.wustl.edu 37 7 141618866 141618866 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 141618866 141618866 A C SNP OR9A4 ENST00000548136 human ensembl 69_37n +1 known missense c.191 p.H64P 0.999 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR9A4 HGNC ENSG00000258083 562 4 0.70 438 71 13.92 - - - OR9A4 0 genome.wustl.edu 37 7 141619345 141619345 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 141619345 141619345 A C SNP OR9A4 ENST00000548136 human ensembl 69_37n +1 known missense c.670 p.T224P 0.996 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR9A4 HGNC ENSG00000258083 384 1 0.26 301 61 16.80 - - - OR9A4 0 genome.wustl.edu 37 7 141619411 141619411 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 141619411 141619411 A C SNP OR9A4 ENST00000548136 human ensembl 69_37n +1 known missense c.736 p.T246P 0.953 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR9A4 HGNC ENSG00000258083 300 1 0.33 230 48 17.14 - - - OR9G1 0 genome.wustl.edu 37 11 56468591 56468591 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 56468591 56468591 A C SNP OR9G1 ENST00000312153 human ensembl 69_37n +1 known missense c.728 p.H243P 1.000 pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR9G1 HGNC ENSG00000174914 566 2 0.35 380 71 15.57 - - - OR9I1 0 genome.wustl.edu 37 11 57886805 57886805 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 57886805 57886805 T G SNP OR9I1 ENST00000302610 human ensembl 69_37n -1 known missense c.112 p.T38P 0.978 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR9I1 HGNC ENSG00000172377 212 1 0.47 146 19 11.52 - - - OR9Q2 0 genome.wustl.edu 37 11 57958362 57958362 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 57958362 57958362 A C SNP OR9Q2 ENST00000311591 human ensembl 69_37n +1 known missense c.400 p.T134P 0.005 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR9Q2 HGNC ENSG00000186513 193 1 0.51 134 24 15.19 - - - OSBPL6 0 genome.wustl.edu 37 2 179214042 179214042 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179214042 179214042 A C SNP OSBPL6 ENST00000315022 human ensembl 69_37n +1 known missense c.1091 p.H364P 1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 342 0 0.00 283 35 10.97 - - - OSGEP 0 genome.wustl.edu 37 14 20915635 20915635 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 20915635 20915635 T C SNP OSGEP ENST00000206542 human ensembl 69_37n -1 known missense c.914 p.E305G 1.000 NULL pfam_Peptidase_M22,prints_Peptidase_M22_subgr,tigrfam_Peptidase_M22_subgr - no_errors OSGEP HGNC ENSG00000092094 252 2 0.79 261 55 17.30 - - - OTUD7B 0 genome.wustl.edu 37 1 149939361 149939361 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 149939361 149939361 A C SNP OTUD7B ENST00000369135 human ensembl 69_37n -1 known silent c.360 p.G120 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 89 0 0.00 124 26 17.33 - - - OXSR1 0 genome.wustl.edu 37 3 38263143 38263143 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 38263143 38263143 A C SNP OXSR1 ENST00000311806 human ensembl 69_37n +1 known missense c.565 p.T189P 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,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,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 OXSR1 HGNC ENSG00000172939 280 1 0.36 257 41 13.71 - - - P2RX4 0 genome.wustl.edu 37 12 121666904 121666904 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 121666904 121666904 T G SNP P2RX4 ENST00000337233 human ensembl 69_37n +1 known splice_site c.884+2 e8+2 1.000 - - - no_errors P2RX4 HGNC ENSG00000135124 60 0 0.00 66 8 10.67 - - - P2RX7 0 genome.wustl.edu 37 12 121622339 121622339 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 121622339 121622339 A C SNP P2RX7 ENST00000546057 human ensembl 69_37n +1 known missense c.1522 p.T508P 1.000 prints_P2X7_purnocptor pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX7 HGNC ENSG00000089041 61 0 0.00 51 16 23.53 - - - P2RY10 0 genome.wustl.edu 37 X 78216877 78216877 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 78216877 78216877 A C SNP P2RY10 ENST00000171757 human ensembl 69_37n +1 known missense c.860 p.H287P 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors P2RY10 HGNC ENSG00000078589 662 1 0.15 486 75 13.37 - - - P2RY13 0 genome.wustl.edu 37 3 151046707 151046707 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 151046707 151046707 A C SNP P2RY13 ENST00000325602 human ensembl 69_37n -1 known missense c.137 p.V46G 0.999 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y13_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt - no_errors P2RY13 HGNC ENSG00000181631 217 0 0.00 209 26 11.02 - - - P4HA3 0 genome.wustl.edu 37 11 73996936 73996936 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 73996936 73996936 T G SNP P4HA3 ENST00000331597 human ensembl 69_37n -1 known missense c.1028 p.H343P 1.000 NULL pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HA3 HGNC ENSG00000149380 197 1 0.50 116 18 13.43 - - - P4HTM 0 genome.wustl.edu 37 3 49042366 49042366 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 49042366 49042366 T G SNP P4HTM ENST00000343546 human ensembl 69_37n +1 known silent c.960 p.G320 0.962 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 23 0 0.00 24 5 17.24 - - - P4HTM 0 genome.wustl.edu 37 3 49042459 49042459 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 49042459 49042459 A C SNP P4HTM ENST00000343546 human ensembl 69_37n +1 known silent c.1053 p.V351 0.746 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 30 0 0.00 22 9 28.12 - - - PABPC1L 0 genome.wustl.edu 37 20 43559102 43559102 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 43559102 43559102 T G SNP PABPC1L ENST00000217073 human ensembl 69_37n +1 known missense c.974 p.V325G 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1L HGNC ENSG00000101104 227 0 0.00 353 45 11.28 - - - PADI1 0 genome.wustl.edu 37 1 17570781 17570781 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 17570781 17570781 A C SNP PADI1 ENST00000460293 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PADI1 HGNC ENSG00000142623 27 0 0.00 13 9 40.91 - - - PADI6 0 genome.wustl.edu 37 1 17698787 17698787 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 17698787 17698787 A C SNP PADI6 ENST00000358481 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PADI6 HGNC ENSG00000256049 85 0 0.00 44 13 22.81 - - - PAFAH1B2 0 genome.wustl.edu 37 11 117034545 117034545 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 117034545 117034545 T G SNP PAFAH1B2 ENST00000527958 human ensembl 69_37n +1 known silent c.348 p.G116 0.999 pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type - no_errors PAFAH1B2 HGNC ENSG00000168092 163 1 0.61 115 24 17.02 - - - PAK7 0 genome.wustl.edu 37 20 9561403 9561403 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 9561403 9561403 T G SNP PAK7 ENST00000353224 human ensembl 69_37n -1 known missense c.379 p.T127P 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK7 HGNC ENSG00000101349 328 0 0.00 260 36 12.16 - - - PALM2-AKAP2 0 genome.wustl.edu 37 9 112694277 112694277 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 112694277 112694277 A C SNP PALM2-AKAP2 ENST00000374530 human ensembl 69_37n +1 known silent c.465 p.S155 0.978 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 151 0 0.00 109 26 18.71 - - - PALM2-AKAP2 0 genome.wustl.edu 37 9 112898610 112898610 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 112898610 112898610 A C SNP PALM2-AKAP2 ENST00000374530 human ensembl 69_37n +1 known silent c.786 p.S262 0.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 233 1 0.43 230 51 18.09 - - - PAMR1 0 genome.wustl.edu 37 11 35457467 35457467 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 35457467 35457467 T G SNP PAMR1 ENST00000278360 human ensembl 69_37n -1 known silent c.1368 p.A456 0.441 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EGF-like,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PAMR1 HGNC ENSG00000149090 188 0 0.00 196 45 18.60 - - - PAPPA 0 genome.wustl.edu 37 9 118974154 118974154 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 118974154 118974154 A C SNP PAPPA ENST00000328252 human ensembl 69_37n +1 known missense c.1861 p.T621P 1.000 pfam_Peptidase_M43 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 462 2 0.43 317 49 13.24 - - - PAQR9 0 genome.wustl.edu 37 3 142681109 142681109 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 142681109 142681109 A C SNP PAQR9 ENST00000340634 human ensembl 69_37n -1 known missense c.1070 p.V357G 0.957 NULL pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 62 0 0.00 45 10 17.86 - - - PARD3 0 genome.wustl.edu 37 10 34558596 34558596 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 34558596 34558596 T G SNP PARD3 ENST00000374789 human ensembl 69_37n -1 known silent c.3417 p.S1139 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 142 0 0.00 108 17 13.49 - - - PARD3 0 genome.wustl.edu 37 10 34739273 34739273 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 34739273 34739273 A C SNP PARD3 ENST00000374789 human ensembl 69_37n -1 known missense c.686 p.V229G 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 148 1 0.67 104 20 16.13 - - - PARD3 0 genome.wustl.edu 37 10 34985325 34985325 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 34985325 34985325 A C SNP PARD3 ENST00000374789 human ensembl 69_37n -1 known missense c.143 p.V48G 1.000 pfam_DUF3534 pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 545 0 0.00 592 91 13.30 - - - PARD3B 0 genome.wustl.edu 37 2 206480219 206480219 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 206480219 206480219 A C SNP PARD3B ENST00000406610 human ensembl 69_37n +1 known silent c.3300 p.A1100 0.775 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 184 0 0.00 148 23 13.45 - - - PARD3B 0 genome.wustl.edu 37 2 206480320 206480320 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 206480320 206480320 T G SNP PARD3B ENST00000406610 human ensembl 69_37n +1 known missense c.3401 p.V1134G 0.053 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 182 1 0.55 129 24 15.48 - - - PARM1 0 genome.wustl.edu 37 4 75938141 75938141 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 75938141 75938141 A C SNP PARM1 ENST00000307428 human ensembl 69_37n +1 known missense c.550 p.T184P 0.031 NULL NULL - no_errors PARM1 HGNC ENSG00000169116 961 5 0.52 724 88 10.84 - - - PARM1 0 genome.wustl.edu 37 4 75938167 75938167 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 75938167 75938167 A C SNP PARM1 ENST00000307428 human ensembl 69_37n +1 known silent c.576 p.A192 0.032 NULL NULL - no_errors PARM1 HGNC ENSG00000169116 875 6 0.68 664 77 10.32 - - - PARM1 0 genome.wustl.edu 37 4 75938251 75938251 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 75938251 75938251 A C SNP PARM1 ENST00000307428 human ensembl 69_37n +1 known silent c.660 p.T220 0.000 NULL NULL - no_errors PARM1 HGNC ENSG00000169116 596 6 1.00 395 83 17.26 - - - PARM1 0 genome.wustl.edu 37 4 75938312 75938312 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 75938312 75938312 A C SNP PARM1 ENST00000307428 human ensembl 69_37n +1 known missense c.721 p.T241P 0.000 NULL NULL - no_errors PARM1 HGNC ENSG00000169116 451 1 0.22 298 63 17.40 - - - PARP1 0 genome.wustl.edu 37 1 226549089 226549089 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 226549089 226549089 T G SNP PARP1 ENST00000463968 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PARP1 HGNC ENSG00000143799 22 0 0.00 27 16 36.36 - - - PARP14 0 genome.wustl.edu 37 3 122418545 122418545 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 122418545 122418545 A C SNP PARP14 ENST00000474629 human ensembl 69_37n +1 known missense c.1144 p.T382P 0.986 NULL pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 302 0 0.00 241 27 10.07 - - - PARP3 0 genome.wustl.edu 37 3 51981810 51981810 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 51981810 51981810 T G SNP PARP3 ENST00000398755 human ensembl 69_37n +1 known missense c.1352 p.V451G 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 103 1 0.95 206 33 13.75 - - - PARP6 0 genome.wustl.edu 37 15 72548915 72548915 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 72548915 72548915 A C SNP PARP6 ENST00000287196 human ensembl 69_37n -1 known missense c.1016 p.V339G 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP6 HGNC ENSG00000137817 89 0 0.00 89 16 15.09 - - - PARP6 0 genome.wustl.edu 37 15 72559863 72559863 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 72559863 72559863 A C SNP PARP6 ENST00000413097 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors PARP6 HGNC ENSG00000137817 45 0 0.00 47 21 30.88 - - - PARP9 0 genome.wustl.edu 37 3 122255022 122255022 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 122255022 122255022 T G SNP PARP9 ENST00000360356 human ensembl 69_37n -1 known silent c.2178 p.T726 0.058 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 740 2 0.27 665 86 11.41 - - - PARVA 0 genome.wustl.edu 37 11 12534909 12534909 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 12534909 12534909 T G SNP PARVA ENST00000334956 human ensembl 69_37n +1 known splice_site c.918+2 e9+2 1.000 - - - no_errors PARVA HGNC ENSG00000197702 217 2 0.91 359 57 13.60 - - - PARVB 0 genome.wustl.edu 37 22 44395435 44395435 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 44395435 44395435 T G SNP PARVB ENST00000406477 human ensembl 69_37n +1 known silent c.93 p.R31 0.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC ENSG00000188677 111 0 0.00 71 15 17.44 - - - PASD1 0 genome.wustl.edu 37 X 150839661 150839661 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 150839661 150839661 A C SNP PASD1 ENST00000370357 human ensembl 69_37n +1 known missense c.1223 p.H408P 0.032 NULL smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 236 2 0.84 179 26 12.62 - - - PATL1 0 genome.wustl.edu 37 11 59423499 59423499 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 59423499 59423499 T G SNP PATL1 ENST00000300146 human ensembl 69_37n -1 known missense c.743 p.H248P 1.000 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 33 0 0.00 19 9 32.14 - - - PAX4 0 genome.wustl.edu 37 7 127255099 127255099 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 127255099 127255099 A C SNP PAX4 ENST00000341640 human ensembl 69_37n -1 known silent c.171 p.G57 0.844 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 119 0 0.00 76 17 18.09 - - - PAX5 0 genome.wustl.edu 37 9 37006507 37006507 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 37006507 37006507 T G SNP PAX5 ENST00000358127 human ensembl 69_37n -1 known silent c.438 p.P146 0.732 NULL pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX5 HGNC ENSG00000196092 117 0 0.00 67 19 22.09 - - - PAX8 0 genome.wustl.edu 37 2 114002140 114002140 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 114002140 114002140 T G SNP PAX8 ENST00000429538 human ensembl 69_37n -1 known missense c.253 p.T85P 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom - no_errors PAX8 HGNC ENSG00000125618 190 0 0.00 206 37 15.10 - - - PBXIP1 0 genome.wustl.edu 37 1 154918515 154918515 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 154918515 154918515 A C SNP PBXIP1 ENST00000368463 human ensembl 69_37n -1 known missense c.1635 p.S545R 0.844 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 221 1 0.45 399 54 11.87 - - - PCDH1 0 genome.wustl.edu 37 5 141243817 141243817 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 141243817 141243817 T G SNP PCDH1 ENST00000287008 human ensembl 69_37n -1 known silent c.2079 p.P693 0.849 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 112 1 0.88 122 28 18.67 - - - PCDH1 0 genome.wustl.edu 37 5 141244740 141244740 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 141244740 141244740 T G SNP PCDH1 ENST00000287008 human ensembl 69_37n -1 known missense c.1156 p.T386P 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 202 2 0.98 209 30 12.55 - - - PCDH10 0 genome.wustl.edu 37 4 134084338 134084338 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 134084338 134084338 A C SNP PCDH10 ENST00000264360 human ensembl 69_37n +1 known missense c.3004 p.T1002P 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 218 0 0.00 154 25 13.97 - - - PCDH11X 0 genome.wustl.edu 37 X 91873600 91873600 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 91873600 91873600 A C SNP PCDH11X ENST00000373094 human ensembl 69_37n +1 known silent c.3705 p.P1235 0.026 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 376 2 0.53 263 43 13.96 - - - PCDH15 0 genome.wustl.edu 37 10 55582766 55582766 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 55582766 55582766 A C SNP PCDH15 ENST00000320301 human ensembl 69_37n -1 known missense c.4720 p.W1574G 0.995 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 201 2 0.98 115 19 14.18 - - - PCDH18 0 genome.wustl.edu 37 4 138451006 138451006 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 138451006 138451006 T G SNP PCDH18 ENST00000344876 human ensembl 69_37n -1 known missense c.2237 p.H746P 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 145 0 0.00 104 18 14.75 - - - PCDH18 0 genome.wustl.edu 37 4 138451790 138451790 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 138451790 138451790 T G SNP PCDH18 ENST00000344876 human ensembl 69_37n -1 known missense c.1453 p.T485P 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 316 1 0.31 229 37 13.86 - - - PCDH18 0 genome.wustl.edu 37 4 138451806 138451806 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 138451806 138451806 T G SNP PCDH18 ENST00000344876 human ensembl 69_37n -1 known silent c.1437 p.S479 0.010 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 323 1 0.31 235 29 10.98 - - - PCDH20 0 genome.wustl.edu 37 13 61986585 61986585 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 61986585 61986585 T G SNP PCDH20 ENST00000409186 human ensembl 69_37n -1 known silent c.1647 p.S549 0.558 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 343 1 0.29 182 30 14.08 - - - PCDH20 0 genome.wustl.edu 37 13 61987043 61987043 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 61987043 61987043 T G SNP PCDH20 ENST00000409186 human ensembl 69_37n -1 known missense c.1189 p.T397P 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 317 0 0.00 213 32 13.06 - - - PCDH20 0 genome.wustl.edu 37 13 61987648 61987648 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 61987648 61987648 A C SNP PCDH20 ENST00000409186 human ensembl 69_37n -1 known missense c.584 p.V195G 1.000 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 161 0 0.00 126 20 13.70 - - - PCDH7 0 genome.wustl.edu 37 4 30725306 30725306 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 30725306 30725306 A C SNP PCDH7 ENST00000511884 human ensembl 69_37n +1 putative missense c.1330 p.T444P 0.997 superfamily_Cadherin-like,pfscan_Cadherin pfam_Protocadherin,pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PCDH7 HGNC ENSG00000169851 105 0 0.00 36 13 26.53 - - - PCDH9 0 genome.wustl.edu 37 13 67802048 67802048 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 67802048 67802048 A C SNP PCDH9 ENST00000377865 human ensembl 69_37n -1 known silent c.525 p.G175 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 200 0 0.00 140 17 10.83 - - - PCDHB1 0 genome.wustl.edu 37 5 140432342 140432342 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140432342 140432342 A C SNP PCDHB1 ENST00000306549 human ensembl 69_37n +1 known silent c.1287 p.P429 0.986 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 PCDHB1 HGNC ENSG00000171815 136 0 0.00 118 22 15.71 - - - PCDHB11 0 genome.wustl.edu 37 5 140579544 140579544 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140579544 140579544 T G SNP PCDHB11 ENST00000354757 human ensembl 69_37n +1 known missense c.197 p.V66G 0.021 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 128 1 0.78 96 24 20.00 - - - PCDHB11 0 genome.wustl.edu 37 5 140580036 140580036 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140580036 140580036 T G SNP PCDHB11 ENST00000354757 human ensembl 69_37n +1 known missense c.689 p.V230G 0.033 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 PCDHB11 HGNC ENSG00000197479 163 1 0.60 103 27 20.61 - - - PCDHB5 0 genome.wustl.edu 37 5 140516055 140516055 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140516055 140516055 A C SNP PCDHB5 ENST00000231134 human ensembl 69_37n +1 known missense c.1039 p.T347P 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 275 1 0.36 212 27 11.25 - - - PCDHB6 0 genome.wustl.edu 37 5 140530343 140530343 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140530343 140530343 T G SNP PCDHB6 ENST00000231136 human ensembl 69_37n +1 known missense c.505 p.Y169D 0.998 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 PCDHB6 HGNC ENSG00000113211 325 2 0.61 229 48 17.08 - - - PCDHB6 0 genome.wustl.edu 37 5 140531367 140531367 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140531367 140531367 A C SNP PCDHB6 ENST00000231136 human ensembl 69_37n +1 known missense c.1529 p.H510P 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 248 2 0.80 157 31 16.49 - - - PCDHGA11 0 genome.wustl.edu 37 5 140801420 140801420 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140801420 140801420 A C SNP PCDHGA11 ENST00000398587 human ensembl 69_37n +1 known missense c.626 p.H209P 0.138 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 71 0 0.00 37 5 11.90 - - - PCDHGA12 0 genome.wustl.edu 37 5 140810460 140810460 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140810460 140810460 T G SNP PCDHGA12 ENST00000252085 human ensembl 69_37n +1 known missense c.134 p.V45G 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 66 0 0.00 48 13 21.31 - - - PCDHGA2 0 genome.wustl.edu 37 5 140720358 140720358 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140720358 140720358 A C SNP PCDHGA2 ENST00000394576 human ensembl 69_37n +1 known missense c.1820 p.H607P 0.492 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 137 1 0.71 123 23 15.75 - - - PCDHGA5 0 genome.wustl.edu 37 5 140745244 140745244 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140745244 140745244 A C SNP PCDHGA5 ENST00000518069 human ensembl 69_37n +1 known silent c.1347 p.P449 0.008 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 175 1 0.57 150 26 14.77 - - - PCDHGA6 0 genome.wustl.edu 37 5 140755001 140755001 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140755001 140755001 A C SNP PCDHGA6 ENST00000517434 human ensembl 69_37n +1 known missense c.1351 p.T451P 0.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 170 0 0.00 136 20 12.74 - - - PCDHGB6 0 genome.wustl.edu 37 5 140789084 140789084 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140789084 140789084 A C SNP PCDHGB6 ENST00000520790 human ensembl 69_37n +1 known missense c.1315 p.T439P 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 61 0 0.00 40 12 22.64 - - - PCDHGC3 0 genome.wustl.edu 37 5 140856514 140856514 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140856514 140856514 T G SNP PCDHGC3 ENST00000308177 human ensembl 69_37n +1 known silent c.831 p.G277 0.367 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 PCDHGC3 HGNC ENSG00000240184 66 0 0.00 85 20 18.87 - - - PCDHGC4 0 genome.wustl.edu 37 5 140866369 140866369 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140866369 140866369 A C SNP PCDHGC4 ENST00000306593 human ensembl 69_37n +1 known silent c.1629 p.P543 0.899 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 PCDHGC4 HGNC ENSG00000242419 210 2 0.94 126 29 18.71 - - - PCDHGC5 0 genome.wustl.edu 37 5 140870230 140870230 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140870230 140870230 A C SNP PCDHGC5 ENST00000252087 human ensembl 69_37n +1 known missense c.1423 p.T475P 0.955 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 384 2 0.52 172 22 11.34 - - - PCDHGC5 0 genome.wustl.edu 37 5 140870878 140870878 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 140870878 140870878 A C SNP PCDHGC5 ENST00000252087 human ensembl 69_37n +1 known missense c.2071 p.T691P 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 235 2 0.84 106 14 11.57 - - - PCED1A 0 genome.wustl.edu 37 20 2816743 2816743 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 2816743 2816743 T G SNP PCED1A ENST00000360652 human ensembl 69_37n -1 known silent c.1059 p.P353 1.000 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1A HGNC ENSG00000132635 28 0 0.00 34 11 23.91 - - - PCGF5 0 genome.wustl.edu 37 10 93011092 93011092 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 93011092 93011092 T G SNP PCGF5 ENST00000336126 human ensembl 69_37n +1 known silent c.369 p.G123 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF5 HGNC ENSG00000180628 247 1 0.40 140 26 15.66 - - - PCID2 0 genome.wustl.edu 37 13 113845123 113845123 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 113845123 113845123 T G SNP PCID2 ENST00000491548 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PCID2 HGNC ENSG00000126226 27 0 0.00 34 13 27.66 - - - PCLO 0 genome.wustl.edu 37 7 82580307 82580307 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 82580307 82580307 A C SNP PCLO ENST00000333891 human ensembl 69_37n -1 known missense c.9597 p.S3199R 0.004 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 114 0 0.00 66 16 19.28 - - - PCLO 0 genome.wustl.edu 37 7 82582445 82582445 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 82582445 82582445 T G SNP PCLO ENST00000333891 human ensembl 69_37n -1 known silent c.7824 p.S2608 0.980 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 247 0 0.00 175 34 16.19 - - - PCLO 0 genome.wustl.edu 37 7 82764193 82764193 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 82764193 82764193 T G SNP PCLO ENST00000333891 human ensembl 69_37n -1 known silent c.2673 p.T891 0.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 327 1 0.30 242 39 13.88 - - - PCNT 0 genome.wustl.edu 37 21 47746323 47746323 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 47746323 47746323 T G SNP PCNT ENST00000359568 human ensembl 69_37n +1 known silent c.87 p.G29 1.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 57 0 0.00 49 11 18.03 - - - PCNT 0 genome.wustl.edu 37 21 47860954 47860954 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 47860954 47860954 A C SNP PCNT ENST00000359568 human ensembl 69_37n +1 known missense c.9580 p.T3194P 0.068 pfam_PACT_domain pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 48 0 0.00 45 7 13.46 - - - PCNX 0 genome.wustl.edu 37 14 71572125 71572125 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 71572125 71572125 A C SNP PCNX ENST00000304743 human ensembl 69_37n +1 known missense c.6269 p.H2090P 0.998 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 61 0 0.00 42 20 32.26 - - - PCNXL2 0 genome.wustl.edu 37 1 233394091 233394091 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 233394091 233394091 A C SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known missense c.1517 p.V506G 0.000 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 71 0 0.00 100 31 23.31 - - - PCNXL4 0 genome.wustl.edu 37 14 60585251 60585251 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 60585251 60585251 A C SNP PCNXL4 ENST00000404681 human ensembl 69_37n +1 known missense c.1783 p.T595P 1.000 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 56 0 0.00 59 14 19.18 - - - PCSK5 0 genome.wustl.edu 37 9 78686782 78686782 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 78686782 78686782 A C SNP PCSK5 ENST00000545128 human ensembl 69_37n +1 known missense c.862 p.T288P 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 218 1 0.45 245 45 15.41 - - - PCSK5 0 genome.wustl.edu 37 9 78774015 78774015 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 78774015 78774015 A C SNP PCSK5 ENST00000545128 human ensembl 69_37n +1 known missense c.1547 p.H516P 1.000 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 223 2 0.88 178 44 19.64 - - - PCSK9 0 genome.wustl.edu 37 1 55512285 55512285 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 55512285 55512285 T C SNP PCSK9 ENST00000302118 human ensembl 69_37n +1 known silent c.489 p.P163 0.000 superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK9 HGNC ENSG00000169174 39 0 0.00 36 6 14.29 - - - PDE4C 0 genome.wustl.edu 37 19 18331221 18331221 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 18331221 18331221 A G SNP PDE4C ENST00000355502 human ensembl 69_37n -1 known missense c.700 p.S234P 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC ENSG00000105650 60 0 0.00 26 4 12.90 - - - PDE4D 0 genome.wustl.edu 37 5 58270654 58270654 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 58270654 58270654 A C SNP PDE4D ENST00000340635 human ensembl 69_37n -1 known missense c.2267 p.V756G 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 403 1 0.25 285 54 15.93 - - - PDE4DIP 0 genome.wustl.edu 37 1 144952330 144952330 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 144952330 144952330 A C SNP PDE4DIP ENST00000369356 human ensembl 69_37n -1 known missense c.389 p.V130G 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 118 0 0.00 227 76 25.00 - - - PDE6A 0 genome.wustl.edu 37 5 149276326 149276326 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 149276326 149276326 A C SNP PDE6A ENST00000255266 human ensembl 69_37n -1 known missense c.1421 p.V474G 0.344 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 262 0 0.00 173 29 14.36 - - - PDIA4 0 genome.wustl.edu 37 7 148702370 148702370 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 148702370 148702370 A C SNP PDIA4 ENST00000286091 human ensembl 69_37n -1 known missense c.1385 p.V462G 1.000 pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 93 0 0.00 53 17 24.29 - - - PDP2 0 genome.wustl.edu 37 16 66919467 66919467 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 66919467 66919467 T G SNP PDP2 ENST00000311765 human ensembl 69_37n +1 known missense c.1280 p.V427G 0.999 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PDP2 HGNC ENSG00000172840 66 0 0.00 49 11 18.33 - - - PDS5A 0 genome.wustl.edu 37 4 39871074 39871074 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 39871074 39871074 A C SNP PDS5A ENST00000303538 human ensembl 69_37n -1 known silent c.2445 p.G815 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 216 0 0.00 203 39 16.12 - - - PDZD2 0 genome.wustl.edu 37 5 31983723 31983723 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 31983723 31983723 T G SNP PDZD2 ENST00000282493 human ensembl 69_37n +1 known silent c.939 p.G313 0.997 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 153 0 0.00 202 30 12.66 - - - PDZK1 0 genome.wustl.edu 37 1 145748518 145748518 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 145748518 145748518 A C SNP PDZK1 ENST00000344770 human ensembl 69_37n +1 known missense c.391 p.T131P 0.002 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZK1 HGNC ENSG00000174827 54 0 0.00 130 22 14.38 - - - PEG3 0 genome.wustl.edu 37 19 57327918 57327918 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 57327918 57327918 A C SNP PEG3 ENST00000326441 human ensembl 69_37n -1 known missense c.1892 p.V631G 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 172 0 0.00 137 24 14.72 - - - PELP1 0 genome.wustl.edu 37 17 4578144 4578144 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 4578144 4578144 T G SNP PELP1 ENST00000301396 human ensembl 69_37n -1 known missense c.1814 p.H605P 1.000 pfam_Uncharacterised_NUC202 pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 97 0 0.00 92 22 19.30 - - - PENK 0 genome.wustl.edu 37 8 57353947 57353947 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 57353947 57353947 A C SNP PENK ENST00000314922 human ensembl 69_37n -1 known missense c.688 p.Y230D 0.955 NULL pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 141 0 0.00 113 14 11.02 - - - PER3 0 genome.wustl.edu 37 1 7886709 7886709 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 7886709 7886709 A C SNP PER3 ENST00000361923 human ensembl 69_37n +1 known silent c.2103 p.S701 0.025 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 108 0 0.00 60 17 22.08 - - - PER3 0 genome.wustl.edu 37 1 7887705 7887705 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 7887705 7887705 A C SNP PER3 ENST00000361923 human ensembl 69_37n +1 known missense c.2692 p.T898P 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 172 0 0.00 121 29 19.21 - - - PET112 0 genome.wustl.edu 37 4 152637189 152637189 + Silent SNP G G A TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 152637189 152637189 G A SNP PET112 ENST00000263985 human ensembl 69_37n -1 known silent c.735 p.A245 0.987 pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Gln-tRNA_amidoTrfase_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Gln-tRNA_amidoTrfase_bsu - no_errors PET112 HGNC ENSG00000059691 45 0 0.00 87 16 15.53 - - - PEX1 0 genome.wustl.edu 37 7 92123668 92123668 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 92123668 92123668 T G SNP PEX1 ENST00000248633 human ensembl 69_37n -1 known missense c.2969 p.D990A 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 130 0 0.00 86 14 14.00 - - - PEX5L 0 genome.wustl.edu 37 3 179526208 179526208 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 179526208 179526208 A C SNP PEX5L ENST00000467460 human ensembl 69_37n -1 known missense c.1370 p.V457G 1.000 pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 107 1 0.93 67 15 18.29 - - - PEX5L 0 genome.wustl.edu 37 3 179754421 179754421 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 179754421 179754421 A C SNP PEX5L ENST00000474909 human ensembl 69_37n -1 known rna NULL NULL 0.098 - - - no_errors PEX5L HGNC ENSG00000114757 134 0 0.00 70 12 14.46 - - - PEX6 0 genome.wustl.edu 37 6 42933445 42933445 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 42933445 42933445 A C SNP PEX6 ENST00000304611 human ensembl 69_37n -1 known missense c.2445 p.S815R 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors PEX6 HGNC ENSG00000124587 218 0 0.00 155 32 17.11 - - - PFAS 0 genome.wustl.edu 37 17 8158845 8158845 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 8158845 8158845 T G SNP PFAS ENST00000314666 human ensembl 69_37n +1 known missense c.410 p.V137G 0.613 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C,pfam_AIR_synth,superfamily_PurM_N-like,superfamily_AIR_synth_C,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 36 0 0.00 32 7 17.95 - - - PFKM 0 genome.wustl.edu 37 12 48524190 48524190 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 48524190 48524190 A C SNP PFKM ENST00000312352 human ensembl 69_37n +1 known missense c.130 p.T44P 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKM HGNC ENSG00000152556 270 0 0.00 154 23 12.99 - - - PFKM 0 genome.wustl.edu 37 12 48525122 48525122 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 48525122 48525122 T G SNP PFKM ENST00000312352 human ensembl 69_37n +1 known silent c.183 p.G61 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKM HGNC ENSG00000152556 120 0 0.00 70 17 19.54 - - - PGD 0 genome.wustl.edu 37 1 10479823 10479823 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 10479823 10479823 A C SNP PGD ENST00000498356 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PGD HGNC ENSG00000142657 104 1 0.95 81 23 21.90 - - - PGK1 0 genome.wustl.edu 37 X 77380825 77380825 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 77380825 77380825 T G SNP PGK1 ENST00000373316 human ensembl 69_37n +1 known silent c.1116 p.G372 0.999 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK1 HGNC ENSG00000102144 154 0 0.00 177 23 11.44 - - - PGM1 0 genome.wustl.edu 37 1 64100599 64100599 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 64100599 64100599 A C SNP PGM1 ENST00000371083 human ensembl 69_37n +1 known missense c.836 p.H279P 1.000 pfam_A-D-PHexomutase_a/b/a-II,prints_Alpha-D-phosphohexomutase_SF pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM1 HGNC ENSG00000079739 220 1 0.45 187 42 18.34 - - - PGM1 0 genome.wustl.edu 37 1 64125258 64125258 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 64125258 64125258 T G SNP PGM1 ENST00000371083 human ensembl 69_37n +1 known missense c.1655 p.V552G 1.000 pfam_A-D-PHexomutase_C pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM1 HGNC ENSG00000079739 113 0 0.00 90 19 17.43 - - - PGM2 0 genome.wustl.edu 37 4 37846008 37846008 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 37846008 37846008 T G SNP PGM2 ENST00000381967 human ensembl 69_37n +1 known missense c.743 p.V248G 0.991 pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM2 HGNC ENSG00000169299 133 0 0.00 109 27 19.57 - - - PHACTR2 0 genome.wustl.edu 37 6 144081677 144081677 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 144081677 144081677 T G SNP PHACTR2 ENST00000440869 human ensembl 69_37n +1 known silent c.594 p.G198 0.998 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 121 0 0.00 82 17 17.00 - - - PHACTR2 0 genome.wustl.edu 37 6 144086569 144086569 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 144086569 144086569 A C SNP PHACTR2 ENST00000440869 human ensembl 69_37n +1 known missense c.866 p.H289P 0.085 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 142 1 0.69 138 27 16.36 - - - PHACTR4 0 genome.wustl.edu 37 1 28792954 28792954 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 28792954 28792954 A C SNP PHACTR4 ENST00000373836 human ensembl 69_37n +1 known silent c.528 p.P176 0.971 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 166 0 0.00 159 31 16.23 - - - PHB 0 genome.wustl.edu 37 17 47484119 47484119 + Splice_Site SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 47484119 47484119 A C SNP PHB ENST00000300408 human ensembl 69_37n -1 known splice_site c.606+2 e5+2 1.000 - - - no_errors PHB HGNC ENSG00000167085 41 0 0.00 21 5 19.23 - - - PHF19 0 genome.wustl.edu 37 9 123624964 123624964 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 123624964 123624964 T G SNP PHF19 ENST00000373896 human ensembl 69_37n -1 known silent c.1032 p.P344 0.635 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD - no_errors PHF19 HGNC ENSG00000119403 129 0 0.00 94 19 16.81 - - - PHF19 0 genome.wustl.edu 37 9 123628106 123628106 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 123628106 123628106 A C SNP PHF19 ENST00000373896 human ensembl 69_37n -1 known missense c.782 p.V261G 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD - no_errors PHF19 HGNC ENSG00000119403 86 0 0.00 52 20 27.78 - - - PHF3 0 genome.wustl.edu 37 6 64422920 64422920 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 64422920 64422920 A C SNP PHF3 ENST00000262043 human ensembl 69_37n +1 known silent c.5436 p.P1812 0.563 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 354 2 0.56 259 36 12.12 - - - PHF3 0 genome.wustl.edu 37 6 64423052 64423052 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 64423052 64423052 A C SNP PHF3 ENST00000262043 human ensembl 69_37n +1 known silent c.5568 p.P1856 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 360 3 0.82 217 38 14.84 - - - PHF7 0 genome.wustl.edu 37 3 52456899 52456899 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 52456899 52456899 T G SNP PHF7 ENST00000327906 human ensembl 69_37n +1 known splice_site c.919+2 e9+2 0.990 - - - no_errors PHF7 HGNC ENSG00000010318 129 0 0.00 139 26 15.76 - - - PHGDH 0 genome.wustl.edu 37 1 120286656 120286656 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 120286656 120286656 A C SNP PHGDH ENST00000369409 human ensembl 69_37n +1 known missense c.1595 p.H532P 0.012 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH - no_errors PHGDH HGNC ENSG00000092621 182 0 0.00 216 32 12.90 - - - PHKA1 0 genome.wustl.edu 37 X 71800899 71800899 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 71800899 71800899 T G SNP PHKA1 ENST00000373539 human ensembl 69_37n -1 known missense c.3676 p.T1226P 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 64 0 0.00 47 22 31.88 - - - PHKA2 0 genome.wustl.edu 37 X 18942526 18942526 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 18942526 18942526 T G SNP PHKA2 ENST00000379942 human ensembl 69_37n -1 known missense c.1687 p.T563P 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 85 0 0.00 86 20 18.87 - - - PHKA2 0 genome.wustl.edu 37 X 18944651 18944651 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 18944651 18944651 A C SNP PHKA2 ENST00000379942 human ensembl 69_37n -1 known missense c.1379 p.V460G 0.159 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 171 0 0.00 209 30 12.50 - - - PHLDB2 0 genome.wustl.edu 37 3 111632499 111632499 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 111632499 111632499 A C SNP PHLDB2 ENST00000393925 human ensembl 69_37n +1 known missense c.1669 p.T557P 0.699 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 536 4 0.73 453 100 18.05 - - - PI16 0 genome.wustl.edu 37 6 36930961 36930961 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 36930961 36930961 A C SNP PI16 ENST00000373674 human ensembl 69_37n +1 known silent c.843 p.P281 0.005 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI16 HGNC ENSG00000164530 132 1 0.75 87 22 20.00 - - - PIGG 0 genome.wustl.edu 37 4 517272 517272 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 517272 517272 T G SNP PIGG ENST00000453061 human ensembl 69_37n +1 known missense c.1639 p.W547G 0.977 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 184 0 0.00 183 27 12.86 - - - PIGV 0 genome.wustl.edu 37 1 27121571 27121571 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 27121571 27121571 A C SNP PIGV ENST00000078527 human ensembl 69_37n +1 known missense c.1046 p.H349P 1.000 pfam_GPI_Mannosyltransferase_2-like pfam_GPI_Mannosyltransferase_2-like - no_errors PIGV HGNC ENSG00000060642 76 0 0.00 50 15 22.73 - - - PIK3C2B 0 genome.wustl.edu 37 1 204438609 204438609 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 204438609 204438609 A G SNP PIK3C2B ENST00000367187 human ensembl 69_37n -1 known missense c.322 p.S108P 0.970 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 164 0 0.00 182 23 11.11 - - - PIK3CA 0 genome.wustl.edu 37 3 178917478 178917478 + Missense_Mutation SNP G G A TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 178917478 178917478 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.353 p.G118D 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 103 1 0.96 84 30 26.32 - - - PILRA 0 genome.wustl.edu 37 7 99987655 99987655 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 99987655 99987655 T G SNP PILRA ENST00000198536 human ensembl 69_37n +1 known missense c.599 p.V200G 0.011 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors PILRA HGNC ENSG00000085514 143 0 0.00 94 15 13.76 - - - PIP4K2A 0 genome.wustl.edu 37 10 22830840 22830840 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 22830840 22830840 A C SNP PIP4K2A ENST00000376573 human ensembl 69_37n -1 known missense c.929 p.V310G 0.130 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2A HGNC ENSG00000150867 121 1 0.81 95 21 18.10 - - - PIP5KL1 0 genome.wustl.edu 37 9 130687562 130687562 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 130687562 130687562 A C SNP PIP5KL1 ENST00000497234 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PIP5KL1 HGNC ENSG00000167103 22 0 0.00 10 13 56.52 - - - PIPSL 0 genome.wustl.edu 37 10 95720884 95720884 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 95720884 95720884 T G SNP PIPSL ENST00000480546 human ensembl 69_37n -1 putative rna NULL NULL 0.998 - - - no_errors PIPSL HGNC ENSG00000180764 125 1 0.79 100 28 21.71 - - - PIR 0 genome.wustl.edu 37 X 15425670 15425670 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 15425670 15425670 A C SNP PIR ENST00000380420 human ensembl 69_37n -1 known missense c.568 p.W190G 0.999 pfam_Pirin_C_dom,superfamily_RmlC_Cupin,pirsf_Pirin pfam_Pirin_C_dom,pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin - no_errors PIR HGNC ENSG00000087842 382 0 0.00 340 38 10.00 - - - PIR 0 genome.wustl.edu 37 X 15477804 15477804 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 15477804 15477804 A C SNP PIR ENST00000380420 human ensembl 69_37n -1 known silent c.249 p.G83 0.052 pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin pfam_Pirin_C_dom,pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin - no_errors PIR HGNC ENSG00000087842 534 0 0.00 490 55 10.05 - - - PIWIL4 0 genome.wustl.edu 37 11 94322375 94322375 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 94322375 94322375 A C SNP PIWIL4 ENST00000299001 human ensembl 69_37n +1 known missense c.1003 p.T335P 1.000 pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL4 HGNC ENSG00000134627 190 0 0.00 141 25 15.06 - - - PKHD1 0 genome.wustl.edu 37 6 51613181 51613181 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 51613181 51613181 A C SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known missense c.9233 p.V3078G 1.000 superfamily_Pectin_lyase_fold/virulence pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 392 0 0.00 282 37 11.46 - - - PKHD1 0 genome.wustl.edu 37 6 51934269 51934269 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 51934269 51934269 T G SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known missense c.764 p.Y255S 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 263 1 0.38 151 24 13.71 - - - PLA2G2A 0 genome.wustl.edu 37 1 20302208 20302208 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 20302208 20302208 T G SNP PLA2G2A ENST00000375111 human ensembl 69_37n -1 known missense c.421 p.T141P 0.000 superfamily_PLipase_A2 pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk - no_errors PLA2G2A HGNC ENSG00000188257 304 1 0.33 236 43 15.36 - - - PLA2G4A 0 genome.wustl.edu 37 1 186901924 186901924 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 186901924 186901924 T G SNP PLA2G4A ENST00000367466 human ensembl 69_37n +1 known silent c.588 p.G196 0.957 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 108 0 0.00 237 53 18.28 - - - PLA2G4F 0 genome.wustl.edu 37 15 42434401 42434401 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 42434401 42434401 A C SNP PLA2G4F ENST00000397272 human ensembl 69_37n -1 known silent c.2337 p.G779 0.997 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 54 0 0.00 36 10 21.74 - - - PLA2R1 0 genome.wustl.edu 37 2 160901383 160901383 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 160901383 160901383 A C SNP PLA2R1 ENST00000283243 human ensembl 69_37n -1 known missense c.395 p.V132G 0.904 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 213 1 0.47 191 25 11.57 - - - PLAGL2 0 genome.wustl.edu 37 20 30784392 30784392 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 30784392 30784392 T G SNP PLAGL2 ENST00000246229 human ensembl 69_37n -1 known missense c.1354 p.T452P 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL2 HGNC ENSG00000126003 62 0 0.00 39 5 11.36 - - - PLAT 0 genome.wustl.edu 37 8 42046508 42046508 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 42046508 42046508 A C SNP PLAT ENST00000220809 human ensembl 69_37n -1 known missense c.197 p.V66G 0.448 pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1 pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLAT HGNC ENSG00000104368 230 1 0.43 190 53 21.72 - - - PLAU 0 genome.wustl.edu 37 10 75675063 75675063 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 75675063 75675063 A C SNP PLAU ENST00000372764 human ensembl 69_37n +1 known missense c.1025 p.H342P 0.095 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLAU HGNC ENSG00000122861 66 0 0.00 77 13 14.44 - - - PLB1 0 genome.wustl.edu 37 2 28828763 28828763 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 28828763 28828763 A C SNP PLB1 ENST00000422425 human ensembl 69_37n +1 known missense c.2972 p.H991P 0.997 pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type - no_errors PLB1 HGNC ENSG00000163803 235 0 0.00 209 24 10.30 - - - PLCB1 0 genome.wustl.edu 37 20 8862276 8862276 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 8862276 8862276 T G SNP PLCB1 ENST00000338037 human ensembl 69_37n +1 known missense c.3431 p.V1144G 0.631 pirsf_PLC-beta,pfam_PLC-beta_C pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 316 0 0.00 252 40 13.65 - - - PLCD4 0 genome.wustl.edu 37 2 219500656 219500656 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 219500656 219500656 T G SNP PLCD4 ENST00000417849 human ensembl 69_37n +1 known splice_site c.2032+2 e13+2 1.000 - - - no_errors PLCD4 HGNC ENSG00000115556 50 0 0.00 44 9 16.98 - - - PLCL1 0 genome.wustl.edu 37 2 198953724 198953724 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 198953724 198953724 A C SNP PLCL1 ENST00000428675 human ensembl 69_37n +1 known missense c.2858 p.Y953S 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCL1 HGNC ENSG00000115896 598 0 0.00 426 54 11.18 - - - PLEK 0 genome.wustl.edu 37 2 68607934 68607934 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 68607934 68607934 T G SNP PLEK ENST00000234313 human ensembl 69_37n +1 known missense c.278 p.V93G 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology - no_errors PLEK HGNC ENSG00000115956 319 1 0.31 218 25 10.20 - - - PLEK 0 genome.wustl.edu 37 2 68620343 68620343 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 68620343 68620343 A C SNP PLEK ENST00000234313 human ensembl 69_37n +1 known missense c.812 p.D271A 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology - no_errors PLEK HGNC ENSG00000115956 433 2 0.46 395 64 13.91 - - - PLEKHA2 0 genome.wustl.edu 37 8 38808379 38808379 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 38808379 38808379 T G SNP PLEKHA2 ENST00000420274 human ensembl 69_37n +1 known silent c.357 p.G119 0.149 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA2 HGNC ENSG00000169499 40 0 0.00 41 9 17.65 - - - PLEKHA3 0 genome.wustl.edu 37 2 179360369 179360369 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179360369 179360369 A C SNP PLEKHA3 ENST00000234453 human ensembl 69_37n +1 known silent c.597 p.S199 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA3 HGNC ENSG00000116095 274 0 0.00 202 25 11.01 - - - PLEKHA7 0 genome.wustl.edu 37 11 16816095 16816095 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 16816095 16816095 T G SNP PLEKHA7 ENST00000530489 human ensembl 69_37n -1 known missense c.1577 p.H526P 0.004 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PLEKHA7 HGNC ENSG00000166689 26 0 0.00 28 10 26.32 - - - PLOD3 0 genome.wustl.edu 37 7 100852180 100852180 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 100852180 100852180 A C SNP PLOD3 ENST00000223127 human ensembl 69_37n -1 known missense c.1742 p.V581G 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 69 0 0.00 46 8 14.81 - - - PLXDC2 0 genome.wustl.edu 37 10 20506433 20506433 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 20506433 20506433 A C SNP PLXDC2 ENST00000377252 human ensembl 69_37n +1 known missense c.1201 p.T401P 0.702 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like - no_errors PLXDC2 HGNC ENSG00000120594 214 1 0.46 211 37 14.92 - - - PMFBP1 0 genome.wustl.edu 37 16 72188315 72188315 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 72188315 72188315 A C SNP PMFBP1 ENST00000537465 human ensembl 69_37n -1 known missense c.209 p.V70G 0.000 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 177 1 0.56 162 33 16.92 - - - PML 0 genome.wustl.edu 37 15 74327676 74327676 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 74327676 74327676 A C SNP PML ENST00000268059 human ensembl 69_37n +1 known missense c.1874 p.H625P 0.000 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 111 1 0.88 117 26 18.18 - - - PMM1 0 genome.wustl.edu 37 22 41982380 41982380 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 41982380 41982380 A C SNP PMM1 ENST00000466645 human ensembl 69_37n -1 known rna NULL NULL 0.013 - - - no_errors PMM1 HGNC ENSG00000100417 17 0 0.00 17 5 22.73 - - - PMS2CL 0 genome.wustl.edu 37 7 6791145 6791145 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 6791145 6791145 A C SNP PMS2CL ENST00000486256 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors PMS2CL HGNC ENSG00000187953 38 0 0.00 38 8 17.02 - - - PMVK 0 genome.wustl.edu 37 1 154897738 154897738 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 154897738 154897738 A C SNP PMVK ENST00000368467 human ensembl 69_37n -1 known missense c.446 p.V149G 1.000 pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim pfam_Pmev_kin_anim,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim - no_errors PMVK HGNC ENSG00000163344 428 2 0.46 545 65 10.60 - - - PNLDC1 0 genome.wustl.edu 37 6 160234652 160234652 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 160234652 160234652 T G SNP PNLDC1 ENST00000275275 human ensembl 69_37n +1 known missense c.926 p.V309G 0.930 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 124 0 0.00 171 24 12.24 - - - PNMA3 0 genome.wustl.edu 37 X 152225996 152225997 + Frame_Shift_Ins INS - - G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 152225996 152225997 - G INS PNMA3 ENST00000370264 human ensembl 69_37n +1 known frame_shift_ins c.584_585 p.V196fs 0.534:0.465 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 46 0 0.00 49 7 12.50 - - - PNMAL1 0 genome.wustl.edu 37 19 46973466 46973466 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 46973466 46973466 A C SNP PNMAL1 ENST00000313683 human ensembl 69_37n -1 known missense c.827 p.V276G 0.000 NULL NULL - no_errors PNMAL1 HGNC ENSG00000182013 150 1 0.66 106 28 20.74 - - - PNMAL1 0 genome.wustl.edu 37 19 46974253 46974253 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 46974253 46974253 A C SNP PNMAL1 ENST00000313683 human ensembl 69_37n -1 known missense c.40 p.C14G 1.000 NULL NULL - no_errors PNMAL1 HGNC ENSG00000182013 73 0 0.00 49 9 15.52 - - - POC1B 0 genome.wustl.edu 37 12 89819118 89819118 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 89819118 89819118 A C SNP POC1B ENST00000313546 human ensembl 69_37n -1 known silent c.1152 p.G384 0.999 NULL pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors POC1B HGNC ENSG00000139323 221 1 0.45 151 54 26.34 - - - POFUT2 0 genome.wustl.edu 37 21 46697041 46697041 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 46697041 46697041 A C SNP POFUT2 ENST00000349485 human ensembl 69_37n -1 known missense c.722 p.V241G 1.000 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 - no_errors POFUT2 HGNC ENSG00000186866 26 0 0.00 27 5 15.62 - - - POLA1 0 genome.wustl.edu 37 X 24906169 24906169 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 24906169 24906169 A C SNP POLA1 ENST00000379068 human ensembl 69_37n +1 known missense c.4094 p.H1365P 0.994 pfam_Znf_DNA-dir_DNA_pol_B_alpha pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 148 1 0.67 120 24 16.44 - - - POLA2 0 genome.wustl.edu 37 11 65061668 65061668 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 65061668 65061668 A C SNP POLA2 ENST00000265465 human ensembl 69_37n +1 known missense c.1289 p.H430P 1.000 pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu - no_errors POLA2 HGNC ENSG00000014138 302 3 0.98 184 45 19.57 - - - POLR2A 0 genome.wustl.edu 37 17 7416965 7416965 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7416965 7416965 A C SNP POLR2A ENST00000322644 human ensembl 69_37n +1 known silent c.5382 p.S1794 0.511 pfam_RNA_pol_II_repeat_euk pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 939 7 0.74 547 91 14.15 - - - POLR2A 0 genome.wustl.edu 37 17 7416986 7416986 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7416986 7416986 A C SNP POLR2A ENST00000322644 human ensembl 69_37n +1 known silent c.5403 p.S1801 0.981 pfam_RNA_pol_II_repeat_euk pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 886 5 0.56 522 67 11.34 - - - POLR2A 0 genome.wustl.edu 37 17 7417038 7417038 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7417038 7417038 A C SNP POLR2A ENST00000322644 human ensembl 69_37n +1 known missense c.5455 p.T1819P 1.000 NULL pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 680 5 0.72 370 67 15.23 - - - POLR2A 0 genome.wustl.edu 37 17 7417049 7417049 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7417049 7417049 A C SNP POLR2A ENST00000322644 human ensembl 69_37n +1 known silent c.5466 p.S1822 0.053 NULL pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 622 6 0.95 325 93 22.20 - - - POLR2A 0 genome.wustl.edu 37 17 7417091 7417091 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7417091 7417091 A C SNP POLR2A ENST00000322644 human ensembl 69_37n +1 known silent c.5508 p.S1836 0.439 pfam_RNA_pol_II_repeat_euk pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 529 3 0.56 277 56 16.72 - - - POLR2A 0 genome.wustl.edu 37 17 7417101 7417101 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7417101 7417101 A C SNP POLR2A ENST00000322644 human ensembl 69_37n +1 known missense c.5518 p.T1840P 0.998 pfam_RNA_pol_II_repeat_euk pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 501 4 0.79 260 54 17.03 - - - POLR2B 0 genome.wustl.edu 37 4 57891078 57891078 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 57891078 57891078 T G SNP POLR2B ENST00000314595 human ensembl 69_37n +1 known silent c.2991 p.G997 1.000 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 221 0 0.00 141 35 19.89 - - - POLR2G 0 genome.wustl.edu 37 11 62530364 62530364 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62530364 62530364 A C SNP POLR2G ENST00000301788 human ensembl 69_37n +1 known missense c.148 p.T50P 1.000 pfam_RNA_pol_Rpb7_N,superfamily_RNA_pol_Rpb7_N pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_RNA_pol_Rpb7_N,pfam_RNA_pol_III_Rbc25,superfamily_NA-bd_OB-fold-like,superfamily_RNA_pol_Rpb7_N,smart_RNA-binding_domain_S1 - no_errors POLR2G HGNC ENSG00000168002 27 0 0.00 61 12 16.44 - - - POLR3A 0 genome.wustl.edu 37 10 79745707 79745707 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 79745707 79745707 T G SNP POLR3A ENST00000372371 human ensembl 69_37n -1 known missense c.3025 p.T1009P 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 112 0 0.00 89 11 11.00 - - - POMT1 0 genome.wustl.edu 37 9 134386764 134386764 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 134386764 134386764 T G SNP POMT1 ENST00000372228 human ensembl 69_37n +1 known missense c.962 p.V321G 1.000 superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif pfam_Glyco_trans_39,pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 112 1 0.88 110 23 17.29 - - - PON3 0 genome.wustl.edu 37 7 94989403 94989403 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 94989403 94989403 A C SNP PON3 ENST00000265627 human ensembl 69_37n -1 known missense c.947 p.V316G 1.000 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON3 HGNC ENSG00000105852 116 0 0.00 100 23 18.70 - - - POP4 0 genome.wustl.edu 37 19 30106350 30106350 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 30106350 30106350 A C SNP POP4 ENST00000591824 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors POP4 HGNC ENSG00000105171 19 0 0.00 17 8 32.00 - - - POPDC2 0 genome.wustl.edu 37 3 119378821 119378821 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 119378821 119378821 A C SNP POPDC2 ENST00000341124 human ensembl 69_37n -1 known silent c.450 p.G150 0.789 pfam_Popeye_prot,superfamily_cNMP-bd-like pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC2 HGNC ENSG00000121577 127 0 0.00 129 24 15.69 - - - PORCN 0 genome.wustl.edu 37 X 48374291 48374291 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 48374291 48374291 A C SNP PORCN ENST00000326194 human ensembl 69_37n +1 known missense c.1037 p.H346P 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 31 0 0.00 40 11 21.15 - - - POTEH 0 genome.wustl.edu 37 22 16267012 16267012 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 16267012 16267012 A C SNP POTEH ENST00000343518 human ensembl 69_37n -1 known silent c.1437 p.G479 0.000 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 POTEH HGNC ENSG00000198062 1643 0 0.00 1220 181 12.86 - - - POU2F1 0 genome.wustl.edu 37 1 167381312 167381312 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 167381312 167381312 T C SNP POU2F1 ENST00000367866 human ensembl 69_37n +1 known missense c.1672 p.S558P 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC ENSG00000143190 99 0 0.00 145 39 21.08 - - - POU6F2 0 genome.wustl.edu 37 7 39504101 39504101 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 39504101 39504101 A C SNP POU6F2 ENST00000403058 human ensembl 69_37n +1 known missense c.1892 p.H631P 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 111 0 0.00 95 20 17.39 - - - PPARD 0 genome.wustl.edu 37 6 35392415 35392415 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 35392415 35392415 A C SNP PPARD ENST00000311565 human ensembl 69_37n +1 known missense c.937 p.T313P 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A - no_errors PPARD HGNC ENSG00000112033 32 0 0.00 20 10 33.33 - - - PPARGC1A 0 genome.wustl.edu 37 4 23833215 23833215 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 23833215 23833215 T G SNP PPARGC1A ENST00000264867 human ensembl 69_37n -1 known missense c.394 p.T132P 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 349 3 0.85 309 65 17.24 - - - PPFIA2 0 genome.wustl.edu 37 12 81762580 81762580 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 81762580 81762580 A C SNP PPFIA2 ENST00000549396 human ensembl 69_37n -1 known missense c.1406 p.V469G 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 234 2 0.85 163 40 19.70 - - - PPFIBP1 0 genome.wustl.edu 37 12 27830023 27830023 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 27830023 27830023 A C SNP PPFIBP1 ENST00000228425 human ensembl 69_37n +1 known missense c.1609 p.T537P 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 94 0 0.00 81 18 18.18 - - - PPFIBP2 0 genome.wustl.edu 37 11 7660996 7660996 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 7660996 7660996 A C SNP PPFIBP2 ENST00000299492 human ensembl 69_37n +1 known missense c.1270 p.T424P 0.994 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 218 1 0.45 331 42 11.20 - - - PPIB 0 genome.wustl.edu 37 15 64454310 64454310 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 64454310 64454310 A C SNP PPIB ENST00000300026 human ensembl 69_37n -1 known missense c.179 p.V60G 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIB HGNC ENSG00000166794 216 1 0.46 131 35 20.96 - - - PPIB 0 genome.wustl.edu 37 15 64454352 64454352 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 64454352 64454352 A C SNP PPIB ENST00000300026 human ensembl 69_37n -1 known missense c.137 p.V46G 1.000 superfamily_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIB HGNC ENSG00000166794 196 0 0.00 115 20 14.81 - - - PPL 0 genome.wustl.edu 37 16 4934979 4934979 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 4934979 4934979 A C SNP PPL ENST00000345988 human ensembl 69_37n -1 known missense c.3677 p.V1226G 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 142 0 0.00 91 19 16.81 - - - PPM1J 0 genome.wustl.edu 37 1 113253404 113253404 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 113253404 113253404 T G SNP PPM1J ENST00000309276 human ensembl 69_37n -1 known missense c.1180 p.T394P 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1J HGNC ENSG00000155367 102 1 0.97 57 17 22.97 - - - PPP1R3C 0 genome.wustl.edu 37 10 93389995 93389995 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 93389995 93389995 T G SNP PPP1R3C ENST00000238994 human ensembl 69_37n -1 known missense c.643 p.T215P 1.000 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3C HGNC ENSG00000119938 243 1 0.41 165 23 12.23 - - - PPP1R9A 0 genome.wustl.edu 37 7 94750034 94750034 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 94750034 94750034 T G SNP PPP1R9A ENST00000289495 human ensembl 69_37n +1 known silent c.1539 p.G513 0.992 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 259 0 0.00 222 31 12.25 - - - PPP2R3A 0 genome.wustl.edu 37 3 135721942 135721942 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 135721942 135721942 T G SNP PPP2R3A ENST00000264977 human ensembl 69_37n +1 known silent c.1602 p.G534 0.839 NULL pfscan_EF_HAND_2 - no_errors PPP2R3A HGNC ENSG00000073711 262 0 0.00 177 34 16.04 - - - PPRC1 0 genome.wustl.edu 37 10 103906456 103906456 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 103906456 103906456 A C SNP PPRC1 ENST00000278070 human ensembl 69_37n +1 known missense c.3707 p.H1236P 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 164 1 0.60 293 45 13.24 - - - PRAMEF1 0 genome.wustl.edu 37 1 12853537 12853537 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 12853537 12853537 T G SNP PRAMEF1 ENST00000332296 human ensembl 69_37n +1 known missense c.161 p.V54G 0.001 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 378 1 0.26 236 33 12.27 - - - PRAMEF1 0 genome.wustl.edu 37 1 12853560 12853560 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 12853560 12853560 A C SNP PRAMEF1 ENST00000332296 human ensembl 69_37n +1 known missense c.184 p.T62P 0.000 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 376 3 0.79 222 47 17.28 - - - PRAMEF1 0 genome.wustl.edu 37 1 12854222 12854222 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 12854222 12854222 T G SNP PRAMEF1 ENST00000332296 human ensembl 69_37n +1 known missense c.446 p.V149G 0.003 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 586 2 0.34 472 63 11.71 - - - PRAMEF18 0 genome.wustl.edu 37 1 13474849 13474849 + Missense_Mutation SNP G G A TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 13474849 13474849 G A SNP PRAMEF18 ENST00000376126 human ensembl 69_37n -1 known missense c.1280 p.S427L 0.000 NULL NULL - no_errors PRAMEF18 HGNC ENSG00000204491 48 0 0.00 64 9 12.33 - - - PRAMEF2 0 genome.wustl.edu 37 1 12919706 12919706 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 12919706 12919706 T G SNP PRAMEF2 ENST00000240189 human ensembl 69_37n +1 known missense c.446 p.V149G 0.131 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 481 1 0.21 398 49 10.86 - - - PRAMEF6 0 genome.wustl.edu 37 1 13111522 13111522 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 13111522 13111522 T G SNP PRAMEF6 ENST00000376182 human ensembl 69_37n -1 known missense c.493 p.T165P 0.007 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 115 0 0.00 78 24 22.86 - - - PRB2 0 genome.wustl.edu 37 12 11546154 11546154 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 11546154 11546154 T G SNP PRB2 ENST00000389362 human ensembl 69_37n -1 known silent c.858 p.P286 0.001 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 426 4 0.93 333 66 16.50 - - - PRB2 0 genome.wustl.edu 37 12 11546340 11546340 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 11546340 11546340 T G SNP PRB2 ENST00000389362 human ensembl 69_37n -1 known silent c.672 p.P224 0.008 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 611 6 0.97 407 78 15.98 - - - PRB2 0 genome.wustl.edu 37 12 11546526 11546526 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 11546526 11546526 T G SNP PRB2 ENST00000389362 human ensembl 69_37n -1 known silent c.486 p.P162 0.012 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 1007 7 0.69 697 100 12.55 - - - PRB3 0 genome.wustl.edu 37 12 11420309 11420309 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 11420309 11420309 T G SNP PRB3 ENST00000279573 human ensembl 69_37n -1 known missense c.748 p.T250P 0.560 NULL NULL - pseudogene PRB3 HGNC ENSG00000197870 735 7 0.94 609 70 10.31 - - - PRB4 0 genome.wustl.edu 37 12 11461449 11461449 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 11461449 11461449 T G SNP PRB4 ENST00000279575 human ensembl 69_37n -1 known silent c.468 p.P156 0.001 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 862 5 0.58 799 93 10.36 - - - PRB4 0 genome.wustl.edu 37 12 11461638 11461638 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 11461638 11461638 T G SNP PRB4 ENST00000279575 human ensembl 69_37n -1 known silent c.279 p.P93 0.000 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 1142 8 0.69 1047 126 10.67 - - - PRB4 0 genome.wustl.edu 37 12 11461737 11461737 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 11461737 11461737 T G SNP PRB4 ENST00000279575 human ensembl 69_37n -1 known silent c.180 p.P60 0.484 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 832 3 0.36 783 92 10.50 - - - PRDM11 0 genome.wustl.edu 37 11 45245978 45245978 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 45245978 45245978 T G SNP PRDM11 ENST00000263765 human ensembl 69_37n +1 known missense c.1055 p.V352G 0.200 NULL pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 232 1 0.43 245 29 10.47 - - - PREB 0 genome.wustl.edu 37 2 27356109 27356109 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 27356109 27356109 A C SNP PREB ENST00000260643 human ensembl 69_37n -1 known missense c.422 p.V141G 0.044 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PREB HGNC ENSG00000138073 119 1 0.82 71 15 17.05 - - - PRIM2 0 genome.wustl.edu 37 6 57190952 57190952 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 57190952 57190952 A C SNP PRIM2 ENST00000274891 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PRIM2 HGNC ENSG00000146143 55 0 0.00 32 12 27.27 - - - PRKAA2 0 genome.wustl.edu 37 1 57169877 57169877 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 57169877 57169877 A C SNP PRKAA2 ENST00000371244 human ensembl 69_37n +1 known missense c.1022 p.Y341S 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKAA2 HGNC ENSG00000162409 234 1 0.42 162 21 11.41 - - - PRKAG1 0 genome.wustl.edu 37 12 49398325 49398325 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 49398325 49398325 T G SNP PRKAG1 ENST00000548065 human ensembl 69_37n -1 known missense c.502 p.T168P 1.000 pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core - no_errors PRKAG1 HGNC ENSG00000181929 268 0 0.00 300 41 11.99 - - - PRKCD 0 genome.wustl.edu 37 3 53223999 53223999 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 53223999 53223999 A C SNP PRKCD ENST00000330452 human ensembl 69_37n +1 known silent c.1854 p.P618 0.288 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCD HGNC ENSG00000163932 229 0 0.00 164 32 16.24 - - - PRKCH 0 genome.wustl.edu 37 14 62014479 62014479 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 62014479 62014479 A C SNP PRKCH ENST00000332981 human ensembl 69_37n +1 known missense c.1780 p.T594P 0.908 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_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCH HGNC ENSG00000027075 212 0 0.00 171 27 13.64 - - - PRKD1 0 genome.wustl.edu 37 14 30046578 30046578 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 30046578 30046578 A C SNP PRKD1 ENST00000331968 human ensembl 69_37n -1 known missense c.2605 p.W869G 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 198 2 1.00 114 28 19.72 - - - PRKD1 0 genome.wustl.edu 37 14 30046591 30046591 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 30046591 30046591 A C SNP PRKD1 ENST00000331968 human ensembl 69_37n -1 known missense c.2592 p.S864R 0.442 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 196 0 0.00 129 18 12.16 - - - PRKDC 0 genome.wustl.edu 37 8 48746906 48746906 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 48746906 48746906 A C SNP PRKDC ENST00000314191 human ensembl 69_37n -1 known missense c.8000 p.V2667G 0.025 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 130 1 0.76 60 22 26.83 - - - PRMT10 0 genome.wustl.edu 37 4 148594997 148594997 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 148594997 148594997 A C SNP PRMT10 ENST00000322396 human ensembl 69_37n -1 known missense c.367 p.Y123D 0.979 pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC ENSG00000164169 108 1 0.92 103 30 22.56 - - - PRMT2 0 genome.wustl.edu 37 21 48071811 48071811 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 48071811 48071811 A C SNP PRMT2 ENST00000334494 human ensembl 69_37n +1 novel missense c.748 p.T250P 0.003 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 76 0 0.00 82 19 18.81 - - - PROCR 0 genome.wustl.edu 37 20 33764138 33764138 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 33764138 33764138 A C SNP PROCR ENST00000216968 human ensembl 69_37n +1 known missense c.490 p.T164P 0.016 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 78 0 0.00 85 20 19.05 - - - PROSER1 0 genome.wustl.edu 37 13 39587343 39587343 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 39587343 39587343 T G SNP PROSER1 ENST00000350125 human ensembl 69_37n -1 known silent c.1980 p.P660 0.000 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 289 0 0.00 249 47 15.88 - - - PRPF38B 0 genome.wustl.edu 37 1 109242444 109242444 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 109242444 109242444 T G SNP PRPF38B ENST00000370025 human ensembl 69_37n +1 known missense c.1443 p.S481R 1.000 NULL pfam_PRP38 - no_errors PRPF38B HGNC ENSG00000134186 695 0 0.00 427 62 12.60 - - - PRPF40B 0 genome.wustl.edu 37 12 50025192 50025192 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 50025192 50025192 T C SNP PRPF40B ENST00000380281 human ensembl 69_37n +1 known silent c.27 p.P9 1.000 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors PRPF40B HGNC ENSG00000110844 287 2 0.69 268 59 18.04 - - - PRPF40B 0 genome.wustl.edu 37 12 50025228 50025228 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 50025228 50025228 A C SNP PRPF40B ENST00000380281 human ensembl 69_37n +1 known silent c.63 p.L21 1.000 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors PRPF40B HGNC ENSG00000110844 208 2 0.94 187 32 14.55 - - - PRPF4B 0 genome.wustl.edu 37 6 4032363 4032363 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 4032363 4032363 T G SNP PRPF4B ENST00000337659 human ensembl 69_37n +1 known silent c.612 p.G204 0.012 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 PRPF4B HGNC ENSG00000112739 392 0 0.00 433 52 10.66 - - - PRPF8 0 genome.wustl.edu 37 17 1579939 1579939 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 1579939 1579939 A C SNP PRPF8 ENST00000304992 human ensembl 69_37n -1 known missense c.2248 p.W750G 1.000 pfam_PROCN pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 208 2 0.95 257 40 13.38 - - - PRR4 0 genome.wustl.edu 37 12 10999887 10999887 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 10999887 10999887 A C SNP PRR4 ENST00000228811 human ensembl 69_37n -1 known silent c.180 p.G60 0.003 NULL NULL - no_errors PRR4 HGNC ENSG00000111215 210 0 0.00 212 26 10.88 - - - PRRC1 0 genome.wustl.edu 37 5 126860371 126860371 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 126860371 126860371 A C SNP PRRC1 ENST00000512635 human ensembl 69_37n +1 known silent c.252 p.P84 0.005 NULL pfam_DUF84 - no_errors PRRC1 HGNC ENSG00000164244 382 1 0.26 368 42 10.22 - - - PRRC2A 0 genome.wustl.edu 37 6 31602024 31602024 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 31602024 31602024 A C SNP PRRC2A ENST00000376007 human ensembl 69_37n +1 known silent c.4731 p.P1577 0.531 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 522 3 0.57 447 66 12.82 - - - PRRC2A 0 genome.wustl.edu 37 6 31602251 31602251 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 31602251 31602251 A C SNP PRRC2A ENST00000376007 human ensembl 69_37n +1 known missense c.4852 p.T1618P 0.998 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 134 1 0.74 93 15 13.89 - - - PRRC2A 0 genome.wustl.edu 37 6 31605054 31605054 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 31605054 31605054 A C SNP PRRC2A ENST00000376007 human ensembl 69_37n +1 known missense c.6286 p.T2096P 0.998 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 141 1 0.70 107 18 14.40 - - - PRRC2C 0 genome.wustl.edu 37 1 171557638 171557638 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 171557638 171557638 A C SNP PRRC2C ENST00000495585 human ensembl 69_37n +1 novel missense c.3635 p.H1212P 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PRRC2C HGNC ENSG00000117523 135 0 0.00 209 73 25.80 - - - PRRC2C 0 genome.wustl.edu 37 1 171561015 171561015 + RNA SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 171561015 171561015 A G SNP PRRC2C ENST00000498596 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PRRC2C HGNC ENSG00000117523 132 1 0.75 210 29 12.13 - - - PRRG3 0 genome.wustl.edu 37 X 150868638 150868638 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 150868638 150868638 A C SNP PRRG3 ENST00000370354 human ensembl 69_37n +1 known missense c.202 p.T68P 0.000 pfscan_GLA_domain pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 47 0 0.00 41 10 19.23 - - - PRSS12 0 genome.wustl.edu 37 4 119229661 119229661 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 119229661 119229661 A C SNP PRSS12 ENST00000296498 human ensembl 69_37n -1 known missense c.1561 p.W521G 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Srcr_rcpt,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 203 2 0.98 196 28 12.50 - - - PRSS3 0 genome.wustl.edu 37 9 33796685 33796685 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 33796685 33796685 A C SNP PRSS3 ENST00000361005 human ensembl 69_37n +1 known missense c.256 p.T86P 0.999 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 151 0 0.00 132 21 13.64 - - - PRSS35 0 genome.wustl.edu 37 6 84233531 84233531 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 84233531 84233531 T G SNP PRSS35 ENST00000369700 human ensembl 69_37n +1 known missense c.371 p.V124G 1.000 superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors PRSS35 HGNC ENSG00000146250 197 0 0.00 118 18 13.14 - - - PRUNE2 0 genome.wustl.edu 37 9 79324285 79324285 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 79324285 79324285 T G SNP PRUNE2 ENST00000428286 human ensembl 69_37n -1 known missense c.1828 p.T610P 1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 165 1 0.60 102 21 16.94 - - - PRX 0 genome.wustl.edu 37 19 40902817 40902817 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 40902817 40902817 A C SNP PRX ENST00000324001 human ensembl 69_37n -1 known missense c.1442 p.V481G 0.015 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 185 0 0.00 103 13 11.11 - - - PRX 0 genome.wustl.edu 37 19 40902952 40902952 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 40902952 40902952 A C SNP PRX ENST00000324001 human ensembl 69_37n -1 known missense c.1307 p.V436G 0.604 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 118 1 0.84 49 10 16.95 - - - PSD3 0 genome.wustl.edu 37 8 18541399 18541399 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 18541399 18541399 A C SNP PSD3 ENST00000428502 human ensembl 69_37n -1 novel missense c.44 p.V15G 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology - no_errors PSD3 HGNC ENSG00000156011 347 0 0.00 312 65 17.20 - - - PSD3 0 genome.wustl.edu 37 8 18729487 18729487 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 18729487 18729487 A C SNP PSD3 ENST00000440756 human ensembl 69_37n -1 known missense c.887 p.V296G 0.100 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors PSD3 HGNC ENSG00000156011 243 1 0.41 193 37 16.02 - - - PSD3 0 genome.wustl.edu 37 8 18730167 18730167 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 18730167 18730167 A C SNP PSD3 ENST00000440756 human ensembl 69_37n -1 known silent c.207 p.G69 0.903 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors PSD3 HGNC ENSG00000156011 123 0 0.00 79 17 17.71 - - - PSEN1 0 genome.wustl.edu 37 14 73637554 73637554 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 73637554 73637554 A C SNP PSEN1 ENST00000324501 human ensembl 69_37n +1 known missense c.137 p.H46P 0.928 prints_Pept_A22A_PS1 pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC ENSG00000080815 53 0 0.00 46 12 20.34 - - - PSG11 0 genome.wustl.edu 37 19 43523090 43523090 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 43523090 43523090 A C SNP PSG11 ENST00000320078 human ensembl 69_37n -1 known missense c.541 p.W181G 0.115 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG11 HGNC ENSG00000243130 626 2 0.32 487 70 12.57 - - - PSG2 0 genome.wustl.edu 37 19 43579521 43579521 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 43579521 43579521 T G SNP PSG2 ENST00000329509 human ensembl 69_37n -1 known missense c.694 p.T232P 0.003 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG2 HGNC ENSG00000242221 552 3 0.54 382 59 13.35 - - - PSG3 0 genome.wustl.edu 37 19 43233945 43233945 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 43233945 43233945 T G SNP PSG3 ENST00000327495 human ensembl 69_37n -1 known missense c.973 p.T325P 0.283 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG3 HGNC ENSG00000221826 306 0 0.00 232 43 15.64 - - - PSG4 0 genome.wustl.edu 37 19 43708053 43708053 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 43708053 43708053 T G SNP PSG4 ENST00000405312 human ensembl 69_37n -1 known missense c.415 p.T139P 0.000 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG4 HGNC ENSG00000243137 608 1 0.16 596 82 12.09 - - - PSG5 0 genome.wustl.edu 37 19 43688949 43688949 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 43688949 43688949 T G SNP PSG5 ENST00000342951 human ensembl 69_37n -1 known missense c.415 p.T139P 0.021 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG5 HGNC ENSG00000204941 584 1 0.17 554 73 11.62 - - - PSG5 0 genome.wustl.edu 37 19 43689027 43689027 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 43689027 43689027 T G SNP PSG5 ENST00000342951 human ensembl 69_37n -1 known missense c.337 p.T113P 0.476 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG5 HGNC ENSG00000204941 804 3 0.37 739 96 11.48 - - - PSG6 0 genome.wustl.edu 37 19 43420346 43420346 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 43420346 43420346 T G SNP PSG6 ENST00000292125 human ensembl 69_37n -1 known missense c.358 p.T120P 0.008 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG6 HGNC ENSG00000170848 546 0 0.00 532 74 12.21 - - - PSG7 0 genome.wustl.edu 37 19 43439571 43439571 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 43439571 43439571 T G SNP PSG7 ENST00000406070 human ensembl 69_37n -1 known missense c.415 p.T139P 0.001 NULL NULL - pseudogene PSG7 HGNC ENSG00000221878 626 1 0.16 609 77 11.21 - - - PSG8 0 genome.wustl.edu 37 19 43259155 43259155 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 43259155 43259155 T G SNP PSG8 ENST00000306511 human ensembl 69_37n -1 known missense c.973 p.T325P 0.317 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG8 HGNC ENSG00000124467 348 2 0.57 224 55 19.57 - - - PSG8 0 genome.wustl.edu 37 19 43262169 43262169 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 43262169 43262169 T G SNP PSG8 ENST00000306511 human ensembl 69_37n -1 known missense c.694 p.T232P 0.419 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG8 HGNC ENSG00000124467 691 4 0.57 454 71 13.52 - - - PSMB5 0 genome.wustl.edu 37 14 23495423 23495423 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 23495423 23495423 T G SNP PSMB5 ENST00000361611 human ensembl 69_37n -1 known missense c.667 p.T223P 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB5 HGNC ENSG00000100804 196 1 0.50 267 40 12.99 - - - PSMC3 0 genome.wustl.edu 37 11 47444520 47444520 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 47444520 47444520 A C SNP PSMC3 ENST00000298852 human ensembl 69_37n -1 known missense c.596 p.V199G 1.000 tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC3 HGNC ENSG00000165916 137 1 0.72 186 34 15.32 - - - PSMC5 0 genome.wustl.edu 37 17 61908408 61908408 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 61908408 61908408 T G SNP PSMC5 ENST00000310144 human ensembl 69_37n +1 known missense c.692 p.V231G 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC5 HGNC ENSG00000087191 97 0 0.00 92 19 17.12 - - - PSMC5 0 genome.wustl.edu 37 17 61908770 61908770 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 61908770 61908770 A C SNP PSMC5 ENST00000310144 human ensembl 69_37n +1 known silent c.954 p.P318 0.989 pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC5 HGNC ENSG00000087191 166 1 0.59 166 39 18.93 - - - PTBP2 0 genome.wustl.edu 37 1 97272423 97272423 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 97272423 97272423 T G SNP PTBP2 ENST00000541987 human ensembl 69_37n +1 known missense c.953 p.V318G 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP2 HGNC ENSG00000117569 135 0 0.00 104 22 17.46 - - - PTCH2 0 genome.wustl.edu 37 1 45293789 45293789 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 45293789 45293789 T G SNP PTCH2 ENST00000372192 human ensembl 69_37n -1 known missense c.1784 p.H595P 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 33 0 0.00 28 5 15.15 - - - PTENP1 0 genome.wustl.edu 37 9 33675410 33675410 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 33675410 33675410 T G SNP PTENP1 ENST00000532280 human ensembl 69_37n -1 known rna NULL NULL 0.410 - - - no_errors PTENP1 HGNC ENSG00000237984 61 0 0.00 42 11 20.75 - - - PTGR1 0 genome.wustl.edu 37 9 114345824 114345824 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 114345824 114345824 A C SNP PTGR1 ENST00000309195 human ensembl 69_37n -1 known silent c.423 p.G141 0.940 superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH - no_errors PTGR1 HGNC ENSG00000106853 351 1 0.28 282 54 16.07 - - - PTGS1 0 genome.wustl.edu 37 9 125140813 125140813 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 125140813 125140813 A C SNP PTGS1 ENST00000362012 human ensembl 69_37n +1 known missense c.313 p.T105P 1.000 superfamily_Haem_peroxidase pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 131 1 0.76 91 21 18.58 - - - PTHLH 0 genome.wustl.edu 37 12 28116533 28116533 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 28116533 28116533 T G SNP PTHLH ENST00000354417 human ensembl 69_37n -1 known missense c.272 p.H91P 1.000 pfam_PTH/PTH-rel pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 204 2 0.97 187 51 21.34 - - - PTPN14 0 genome.wustl.edu 37 1 214557526 214557526 + Frame_Shift_Del DEL T T - TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 214557526 214557526 T - DEL PTPN14 ENST00000366956 human ensembl 69_37n -1 known frame_shift_del c.1672 p.M558fs 0.995 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 80 0 0.00 94 31 24.41 - - - PTPN2 0 genome.wustl.edu 37 18 12817187 12817187 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 12817187 12817187 T G SNP PTPN2 ENST00000309660 human ensembl 69_37n -1 known missense c.673 p.T225P 1.000 pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN2 HGNC ENSG00000175354 292 1 0.34 276 41 12.85 - - - PTPN3 0 genome.wustl.edu 37 9 112185103 112185103 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 112185103 112185103 A C SNP PTPN3 ENST00000374541 human ensembl 69_37n -1 known missense c.1031 p.V344G 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors PTPN3 HGNC ENSG00000070159 198 0 0.00 201 27 11.79 - - - PTPRA 0 genome.wustl.edu 37 20 3002776 3002776 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 3002776 3002776 T G SNP PTPRA ENST00000425918 human ensembl 69_37n +1 known missense c.1271 p.V424G 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 120 0 0.00 54 12 18.18 - - - PTPRD 0 genome.wustl.edu 37 9 8528725 8528725 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 8528725 8528725 A C SNP PTPRD ENST00000356435 human ensembl 69_37n -1 known missense c.407 p.V136G 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 198 2 1.00 121 30 19.74 - - - PTPRE 0 genome.wustl.edu 37 10 129864432 129864432 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 129864432 129864432 A C SNP PTPRE ENST00000254667 human ensembl 69_37n +1 known missense c.817 p.T273P 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 211 0 0.00 189 32 14.41 - - - PTPRF 0 genome.wustl.edu 37 1 44064415 44064415 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 44064415 44064415 T G SNP PTPRF ENST00000359947 human ensembl 69_37n +1 known missense c.2144 p.V715G 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 112 0 0.00 64 19 22.89 - - - PTPRG 0 genome.wustl.edu 37 3 62278136 62278136 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 62278136 62278136 A C SNP PTPRG ENST00000474889 human ensembl 69_37n +1 known missense c.4096 p.T1366P 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 291 0 0.00 277 58 17.26 - - - PTPRJ 0 genome.wustl.edu 37 11 48146675 48146675 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 48146675 48146675 A C SNP PTPRJ ENST00000418331 human ensembl 69_37n +1 known missense c.1030 p.T344P 0.447 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 98 0 0.00 132 22 14.19 - - - PTPRK 0 genome.wustl.edu 37 6 128718727 128718727 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 128718727 128718727 T G SNP PTPRK ENST00000368227 human ensembl 69_37n -1 known silent c.207 p.P69 0.570 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 264 1 0.38 193 43 18.14 - - - PTPRN 0 genome.wustl.edu 37 2 220166326 220166326 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 220166326 220166326 A C SNP PTPRN ENST00000295718 human ensembl 69_37n -1 known silent c.1110 p.G370 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 100 1 0.98 59 14 19.18 - - - PTPRR 0 genome.wustl.edu 37 12 71050575 71050575 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 71050575 71050575 A C SNP PTPRR ENST00000283228 human ensembl 69_37n -1 known missense c.1789 p.C597G 1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 191 0 0.00 165 37 18.14 - - - PTPRZ1 0 genome.wustl.edu 37 7 121650607 121650607 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 121650607 121650607 A C SNP PTPRZ1 ENST00000393386 human ensembl 69_37n +1 known missense c.1507 p.T503P 0.991 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a - no_errors PTPRZ1 HGNC ENSG00000106278 309 1 0.32 265 44 14.19 - - - PTPRZ1 0 genome.wustl.edu 37 7 121652121 121652121 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 121652121 121652121 A C SNP PTPRZ1 ENST00000393386 human ensembl 69_37n +1 known missense c.3021 p.L1007F 0.883 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a - no_errors PTPRZ1 HGNC ENSG00000106278 199 2 1.00 107 33 23.57 - - - PTTG1 0 genome.wustl.edu 37 5 159854867 159854867 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 159854867 159854867 A C SNP PTTG1 ENST00000352433 human ensembl 69_37n +1 known silent c.516 p.P172 0.000 pfam_Securin_separation_inhibitor pfam_Securin_separation_inhibitor - no_errors PTTG1 HGNC ENSG00000164611 114 0 0.00 119 20 14.39 - - - PTTG2 0 genome.wustl.edu 37 4 37962571 37962571 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 37962571 37962571 A C SNP PTTG2 ENST00000504686 human ensembl 69_37n +1 known silent c.516 p.P172 0.000 pfam_Securin_separation_inhibitor pfam_Securin_separation_inhibitor - no_errors PTTG2 HGNC ENSG00000250254 328 1 0.30 354 41 10.35 - - - PVR 0 genome.wustl.edu 37 19 45157231 45157231 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 45157231 45157231 A C SNP PVR ENST00000425690 human ensembl 69_37n +1 known missense c.787 p.T263P 0.000 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVR HGNC ENSG00000073008 89 0 0.00 59 22 26.83 - - - PVR 0 genome.wustl.edu 37 19 45161048 45161048 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 45161048 45161048 A C SNP PVR ENST00000425690 human ensembl 69_37n +1 known silent c.861 p.P287 0.006 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVR HGNC ENSG00000073008 52 0 0.00 36 8 17.78 - - - PVRL2 0 genome.wustl.edu 37 19 45377235 45377235 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 45377235 45377235 A C SNP PVRL2 ENST00000252483 human ensembl 69_37n +1 known missense c.838 p.T280P 0.994 smart_Ig_sub,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL2 HGNC ENSG00000130202 110 1 0.89 90 24 20.87 - - - PVRL3 0 genome.wustl.edu 37 3 110837624 110837624 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 110837624 110837624 T G SNP PVRL3 ENST00000485303 human ensembl 69_37n +1 known silent c.624 p.G208 0.918 pfam_CD80_C2-set,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors PVRL3 HGNC ENSG00000177707 157 0 0.00 88 21 19.27 - - - PYGO1 0 genome.wustl.edu 37 15 55838498 55838498 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 55838498 55838498 T G SNP PYGO1 ENST00000302000 human ensembl 69_37n -1 known missense c.983 p.H328P 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO1 HGNC ENSG00000171016 260 1 0.38 291 51 14.87 - - - QPCT 0 genome.wustl.edu 37 2 37594515 37594515 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 37594515 37594515 A C SNP QPCT ENST00000338415 human ensembl 69_37n +1 known silent c.687 p.P229 0.884 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCT HGNC ENSG00000115828 152 1 0.65 129 42 24.14 - - - QSER1 0 genome.wustl.edu 37 11 32953656 32953656 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 32953656 32953656 A C SNP QSER1 ENST00000399302 human ensembl 69_37n +1 known silent c.465 p.A155 0.988 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 251 0 0.00 265 31 10.47 - - - QSOX1 0 genome.wustl.edu 37 1 180153135 180153135 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 180153135 180153135 A C SNP QSOX1 ENST00000367602 human ensembl 69_37n +1 known silent c.837 p.A279 0.000 NULL pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 220 0 0.00 226 41 15.19 - - - QTRTD1 0 genome.wustl.edu 37 3 113804546 113804546 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 113804546 113804546 T G SNP QTRTD1 ENST00000281273 human ensembl 69_37n +1 known missense c.1043 p.V348G 1.000 pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans - no_errors QTRTD1 HGNC ENSG00000151576 194 0 0.00 142 28 16.47 - - - RAB11FIP5 0 genome.wustl.edu 37 2 73316382 73316382 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 73316382 73316382 T G SNP RAB11FIP5 ENST00000258098 human ensembl 69_37n -1 known missense c.493 p.T165P 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP5 HGNC ENSG00000135631 147 0 0.00 100 17 14.53 - - - RAB11FIP5 0 genome.wustl.edu 37 2 73316524 73316524 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 73316524 73316524 A C SNP RAB11FIP5 ENST00000493523 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RAB11FIP5 HGNC ENSG00000135631 72 0 0.00 40 15 27.27 - - - RAB11FIP5 0 genome.wustl.edu 37 2 73316579 73316579 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 73316579 73316579 A C SNP RAB11FIP5 ENST00000493523 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors RAB11FIP5 HGNC ENSG00000135631 46 0 0.00 34 8 19.05 - - - RAB1B 0 genome.wustl.edu 37 11 66039668 66039668 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 66039668 66039668 T G SNP RAB1B ENST00000311481 human ensembl 69_37n +1 known missense c.128 p.V43G 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB1B HGNC ENSG00000174903 268 1 0.37 154 20 11.49 - - - RAB38 0 genome.wustl.edu 37 11 87883071 87883071 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 87883071 87883071 A C SNP RAB38 ENST00000526372 human ensembl 69_37n -1 putative missense c.250 p.C84G 0.624 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RAB38 HGNC ENSG00000123892 655 1 0.15 424 51 10.69 - - - RAB39B 0 genome.wustl.edu 37 X 154490157 154490157 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 154490157 154490157 A C SNP RAB39B ENST00000369454 human ensembl 69_37n -1 known missense c.573 p.S191R 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB39B HGNC ENSG00000155961 413 1 0.24 312 45 12.57 - - - RAB39B 0 genome.wustl.edu 37 X 154490164 154490164 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 154490164 154490164 A C SNP RAB39B ENST00000369454 human ensembl 69_37n -1 known missense c.566 p.V189G 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB39B HGNC ENSG00000155961 419 3 0.71 287 78 21.31 - - - RAB3GAP2 0 genome.wustl.edu 37 1 220325057 220325057 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 220325057 220325057 A C SNP RAB3GAP2 ENST00000358951 human ensembl 69_37n -1 known missense c.3917 p.V1306G 1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 182 0 0.00 225 29 11.33 - - - RAB9A 0 genome.wustl.edu 37 X 13727289 13727289 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 13727289 13727289 T G SNP RAB9A ENST00000464506 human ensembl 69_37n +1 known missense c.424 p.C142G 1.000 pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB9A HGNC ENSG00000123595 221 2 0.90 218 27 11.02 - - - RABGAP1 0 genome.wustl.edu 37 9 125752412 125752412 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 125752412 125752412 A C SNP RABGAP1 ENST00000373647 human ensembl 69_37n +1 known silent c.843 p.A281 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 135 0 0.00 76 23 23.23 - - - RABGGTA 0 genome.wustl.edu 37 14 24736020 24736020 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 24736020 24736020 T G SNP RABGGTA ENST00000216840 human ensembl 69_37n -1 known missense c.1429 p.T477P 0.017 pfam_Leu-rich_rpt pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a - no_errors RABGGTA HGNC ENSG00000100949 26 0 0.00 4 6 60.00 - - - RAD23B 0 genome.wustl.edu 37 9 110068789 110068789 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 110068789 110068789 A C SNP RAD23B ENST00000358015 human ensembl 69_37n +1 known missense c.358 p.T120P 0.011 tigrfam_Rad23 pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23 - no_errors RAD23B HGNC ENSG00000119318 281 2 0.71 189 43 18.45 - - - RAD52 0 genome.wustl.edu 37 12 1038983 1038983 + Splice_Site SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 1038983 1038983 A C SNP RAD52 ENST00000358495 human ensembl 69_37n -1 known splice_site c.348+2 e4+2 1.000 - - - no_errors RAD52 HGNC ENSG00000002016 495 5 0.99 392 70 15.09 - - - RAD54L2 0 genome.wustl.edu 37 3 51664815 51664815 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 51664815 51664815 T G SNP RAD54L2 ENST00000432863 human ensembl 69_37n +1 novel missense c.178 p.W60G 0.997 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RAD54L2 HGNC ENSG00000164080 93 0 0.00 73 23 23.96 - - - RAG1 0 genome.wustl.edu 37 11 36597190 36597190 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 36597190 36597190 T G SNP RAG1 ENST00000299440 human ensembl 69_37n +1 known missense c.2336 p.V779G 1.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 161 1 0.62 193 25 11.47 - - - RALBP1 0 genome.wustl.edu 37 18 9525756 9525756 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 9525756 9525756 T G SNP RALBP1 ENST00000019317 human ensembl 69_37n +1 known silent c.1254 p.G418 0.016 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 134 0 0.00 157 23 12.78 - - - RALGAPA2 0 genome.wustl.edu 37 20 20493865 20493865 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 20493865 20493865 A C SNP RALGAPA2 ENST00000202677 human ensembl 69_37n -1 known missense c.4148 p.V1383G 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC ENSG00000188559 46 0 0.00 38 6 13.64 - - - RANGAP1 0 genome.wustl.edu 37 22 41657473 41657473 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 41657473 41657473 T G SNP RANGAP1 ENST00000356244 human ensembl 69_37n -1 known missense c.592 p.T198P 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 41 0 0.00 38 10 20.41 - - - RAPGEF2 0 genome.wustl.edu 37 4 160235763 160235763 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 160235763 160235763 T G SNP RAPGEF2 ENST00000264431 human ensembl 69_37n +1 known silent c.213 p.G71 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 122 0 0.00 55 18 24.66 - - - RARRES3 0 genome.wustl.edu 37 11 63313622 63313622 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 63313622 63313622 T G SNP RARRES3 ENST00000255688 human ensembl 69_37n +1 known missense c.389 p.V130G 0.020 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 137 1 0.72 120 17 12.32 - - - RASAL2 0 genome.wustl.edu 37 1 178421769 178421769 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 178421769 178421769 A C SNP RASAL2 ENST00000367649 human ensembl 69_37n +1 known missense c.1991 p.N664T 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 196 1 0.51 249 30 10.75 - - - RASAL2 0 genome.wustl.edu 37 1 178427487 178427487 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 178427487 178427487 T G SNP RASAL2 ENST00000433130 human ensembl 69_37n +1 putative missense c.1288 p.C430G 0.984 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_PP1_inhibitor,smart_RasGAP,pfscan_RasGAP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RASAL2 HGNC ENSG00000075391 122 0 0.00 137 20 12.74 - - - RASEF 0 genome.wustl.edu 37 9 85615090 85615090 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 85615090 85615090 T G SNP RASEF ENST00000376447 human ensembl 69_37n -1 known missense c.1717 p.T573P 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_Vinculin/catenin,smart_EF_hand_Ca-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 256 0 0.00 125 18 12.59 - - - RASGRF1 0 genome.wustl.edu 37 15 79277491 79277491 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 79277491 79277491 A C SNP RASGRF1 ENST00000419573 human ensembl 69_37n -1 known missense c.3320 p.V1107G 0.996 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 49 0 0.00 61 12 16.44 - - - RASL11A 0 genome.wustl.edu 37 13 27847306 27847306 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 27847306 27847306 A C SNP RASL11A ENST00000241463 human ensembl 69_37n +1 known missense c.404 p.H135P 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASL11A HGNC ENSG00000122035 80 0 0.00 46 15 24.59 - - - RBBP6 0 genome.wustl.edu 37 16 24578776 24578776 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 24578776 24578776 A C SNP RBBP6 ENST00000319715 human ensembl 69_37n +1 known silent c.1902 p.P634 0.998 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 276 1 0.36 262 63 19.21 - - - RBFOX1 0 genome.wustl.edu 37 16 7383056 7383056 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 7383056 7383056 A C SNP RBFOX1 ENST00000311745 human ensembl 69_37n +1 known silent c.54 p.V18 0.030 NULL pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 282 2 0.70 220 30 12.00 - - - RBFOX1 0 genome.wustl.edu 37 16 7383070 7383070 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 7383070 7383070 A C SNP RBFOX1 ENST00000311745 human ensembl 69_37n +1 known missense c.68 p.Y23S 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 241 1 0.41 184 32 14.61 - - - RBM12 0 genome.wustl.edu 37 20 34242528 34242528 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 34242528 34242528 T G SNP RBM12 ENST00000359646 human ensembl 69_37n -1 known silent c.717 p.P239 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 83 0 0.00 75 24 24.24 - - - RBM12B 0 genome.wustl.edu 37 8 94746032 94746032 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 94746032 94746032 A C SNP RBM12B ENST00000399300 human ensembl 69_37n -1 known silent c.2607 p.G869 0.999 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 293 0 0.00 226 30 11.67 - - - RBM12B 0 genome.wustl.edu 37 8 94746437 94746437 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 94746437 94746437 T G SNP RBM12B ENST00000399300 human ensembl 69_37n -1 known silent c.2202 p.P734 0.009 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 129 0 0.00 117 22 15.60 - - - RBM12B 0 genome.wustl.edu 37 8 94746461 94746461 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 94746461 94746461 T G SNP RBM12B ENST00000399300 human ensembl 69_37n -1 known silent c.2178 p.P726 0.868 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 155 0 0.00 132 29 17.90 - - - RBM28 0 genome.wustl.edu 37 7 127954895 127954895 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 127954895 127954895 A C SNP RBM28 ENST00000223073 human ensembl 69_37n -1 known missense c.1967 p.V656G 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM28 HGNC ENSG00000106344 342 1 0.29 305 34 10.00 - - - RBM28 0 genome.wustl.edu 37 7 127964642 127964642 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 127964642 127964642 T G SNP RBM28 ENST00000223073 human ensembl 69_37n -1 known missense c.1309 p.T437P 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM28 HGNC ENSG00000106344 363 0 0.00 291 39 11.71 - - - RBM41 0 genome.wustl.edu 37 X 106312494 106312494 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 106312494 106312494 T G SNP RBM41 ENST00000372479 human ensembl 69_37n -1 known missense c.1066 p.T356P 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM41 HGNC ENSG00000089682 217 1 0.46 248 55 18.09 - - - RBM6 0 genome.wustl.edu 37 3 50004934 50004934 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 50004934 50004934 T G SNP RBM6 ENST00000266022 human ensembl 69_37n +1 known missense c.76 p.W26G 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 139 0 0.00 134 25 15.72 - - - RBMS1 0 genome.wustl.edu 37 2 161141319 161141319 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 161141319 161141319 T G SNP RBMS1 ENST00000392753 human ensembl 69_37n -1 known silent c.858 p.T286 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC ENSG00000153250 146 0 0.00 83 18 17.82 - - - RBMXL1 0 genome.wustl.edu 37 1 89449114 89449114 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 89449114 89449114 A C SNP RBMXL1 ENST00000321792 human ensembl 69_37n -1 known silent c.396 p.G132 0.500 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 163 1 0.61 117 20 14.60 - - - RCN3 0 genome.wustl.edu 37 19 50031833 50031833 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 50031833 50031833 A C SNP RCN3 ENST00000270645 human ensembl 69_37n +1 known missense c.104 p.H35P 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors RCN3 HGNC ENSG00000142552 129 1 0.76 72 23 23.71 - - - RDX 0 genome.wustl.edu 37 11 110128533 110128533 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 110128533 110128533 A C SNP RDX ENST00000530749 human ensembl 69_37n -1 known silent c.657 p.G219 0.104 pirsf_ERM,pfam_FERM_PH-like_C,prints_Ez/rad/moesin,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 120 0 0.00 93 38 29.01 - - - REG1P 0 genome.wustl.edu 37 2 79363855 79363855 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 79363855 79363855 T G SNP REG1P ENST00000377435 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors REG1P HGNC ENSG00000204787 39 0 0.00 39 5 11.11 - - - REL 0 genome.wustl.edu 37 2 61149060 61149060 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 61149060 61149060 A C SNP REL ENST00000295025 human ensembl 69_37n +1 known missense c.1250 p.H417P 0.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors REL HGNC ENSG00000162924 215 1 0.46 168 26 13.40 - - - RELN 0 genome.wustl.edu 37 7 103557593 103557593 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 103557593 103557593 A C SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.266 p.V89G 1.000 pfam_Reeler_dom,pfscan_Reeler_dom pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 205 0 0.00 150 19 11.18 - - - RERE 0 genome.wustl.edu 37 1 8421932 8421932 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 8421932 8421932 A C SNP RERE ENST00000337907 human ensembl 69_37n -1 known missense c.1907 p.V636G 0.997 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 37 0 0.00 23 9 28.12 - - - RERE 0 genome.wustl.edu 37 1 8716261 8716261 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 8716261 8716261 A C SNP RERE ENST00000337907 human ensembl 69_37n -1 known missense c.96 p.S32R 0.872 NULL pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 610 1 0.16 402 74 15.55 - - - REST 0 genome.wustl.edu 37 4 57797237 57797237 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 57797237 57797237 A G SNP REST ENST00000309042 human ensembl 69_37n +1 known missense c.2213 p.E738G 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 311 1 0.32 410 52 11.23 - - - RETSAT 0 genome.wustl.edu 37 2 85573318 85573318 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 85573318 85573318 A C SNP RETSAT ENST00000475624 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors RETSAT HGNC ENSG00000042445 43 0 0.00 33 12 26.67 - - - RFTN1 0 genome.wustl.edu 37 3 16419313 16419313 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 16419313 16419313 A C SNP RFTN1 ENST00000334133 human ensembl 69_37n -1 known silent c.738 p.G246 0.000 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 173 1 0.57 91 23 20.18 - - - RFTN1 0 genome.wustl.edu 37 3 16419359 16419359 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 16419359 16419359 A C SNP RFTN1 ENST00000334133 human ensembl 69_37n -1 known missense c.692 p.V231G 0.000 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 168 0 0.00 83 21 20.19 - - - RFWD3 0 genome.wustl.edu 37 16 74662504 74662504 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 74662504 74662504 A C SNP RFWD3 ENST00000361070 human ensembl 69_37n -1 known silent c.1815 p.G605 1.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING - no_errors RFWD3 HGNC ENSG00000168411 243 0 0.00 221 28 11.24 - - - RFX4 0 genome.wustl.edu 37 12 107080791 107080791 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 107080791 107080791 A C SNP RFX4 ENST00000357881 human ensembl 69_37n +1 known silent c.534 p.S178 0.998 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 478 1 0.21 400 50 11.06 - - - RGAG1 0 genome.wustl.edu 37 X 109694112 109694112 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 109694112 109694112 A C SNP RGAG1 ENST00000465301 human ensembl 69_37n +1 known silent c.267 p.P89 0.215 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 788 5 0.63 486 86 15.01 - - - RGAG1 0 genome.wustl.edu 37 X 109694926 109694926 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 109694926 109694926 A C SNP RGAG1 ENST00000465301 human ensembl 69_37n +1 known missense c.1081 p.T361P 0.002 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 779 6 0.76 409 84 16.94 - - - RGAG1 0 genome.wustl.edu 37 X 109695035 109695035 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 109695035 109695035 T G SNP RGAG1 ENST00000465301 human ensembl 69_37n +1 known missense c.1190 p.V397G 0.000 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 791 6 0.75 405 62 13.25 - - - RGAG1 0 genome.wustl.edu 37 X 109695160 109695160 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 109695160 109695160 A C SNP RGAG1 ENST00000465301 human ensembl 69_37n +1 known missense c.1315 p.T439P 0.001 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 656 4 0.61 324 48 12.80 - - - RGMA 0 genome.wustl.edu 37 15 93588831 93588831 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 93588831 93588831 A C SNP RGMA ENST00000329082 human ensembl 69_37n -1 known silent c.750 p.G250 0.008 pfam_RGM_C pfam_RGM_N,pfam_RGM_C - no_errors RGMA HGNC ENSG00000182175 21 0 0.00 15 6 27.27 - - - RGMB 0 genome.wustl.edu 37 5 98115353 98115353 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 98115353 98115353 A C SNP RGMB ENST00000308234 human ensembl 69_37n +1 known missense c.329 p.H110P 1.000 pfam_RGM_N pfam_RGM_C,pfam_RGM_N - no_errors RGMB HGNC ENSG00000174136 242 0 0.00 176 27 13.30 - - - RGPD3 0 genome.wustl.edu 37 2 107040733 107040733 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 107040733 107040733 A C SNP RGPD3 ENST00000304514 human ensembl 69_37n -1 known silent c.3690 p.G1230 0.002 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 532 1 0.19 361 58 13.78 - - - RGR 0 genome.wustl.edu 37 10 86008622 86008622 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 86008622 86008622 T G SNP RGR ENST00000483744 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors RGR HGNC ENSG00000148604 84 0 0.00 38 15 27.78 - - - RGS14 0 genome.wustl.edu 37 5 176798517 176798517 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 176798517 176798517 T C SNP RGS14 ENST00000511890 human ensembl 69_37n +1 known missense c.1037 p.L346P 0.000 NULL pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RGS14 HGNC ENSG00000169220 103 1 0.96 35 13 27.08 - - - RHOBTB2 0 genome.wustl.edu 37 8 22863544 22863544 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 22863544 22863544 A C SNP RHOBTB2 ENST00000251822 human ensembl 69_37n +1 known missense c.368 p.Y123S 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 298 3 0.99 216 26 10.74 - - - RHOBTB2 0 genome.wustl.edu 37 8 22868052 22868052 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 22868052 22868052 T G SNP RHOBTB2 ENST00000251822 human ensembl 69_37n +1 known missense c.1622 p.V541G 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 160 0 0.00 143 28 16.09 - - - RHOXF2 0 genome.wustl.edu 37 X 119297567 119297567 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 119297567 119297567 A C SNP RHOXF2 ENST00000371388 human ensembl 69_37n +1 known silent c.741 p.P247 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors RHOXF2 HGNC ENSG00000131721 20 0 0.00 13 6 31.58 - - - RIBC1 0 genome.wustl.edu 37 X 53454979 53454979 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 53454979 53454979 T G SNP RIBC1 ENST00000375327 human ensembl 69_37n +1 known missense c.146 p.V49G 0.980 pfam_RIB43A pfam_RIB43A - no_errors RIBC1 HGNC ENSG00000158423 115 1 0.86 83 17 16.35 - - - RICTOR 0 genome.wustl.edu 37 5 38947476 38947476 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 38947476 38947476 T G SNP RICTOR ENST00000296782 human ensembl 69_37n -1 known missense c.4276 p.T1426P 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 190 1 0.52 105 20 16.00 - - - RIF1 0 genome.wustl.edu 37 2 152322145 152322145 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 152322145 152322145 T G SNP RIF1 ENST00000454583 human ensembl 69_37n +1 known missense c.932 p.V311G 0.001 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RIF1 HGNC ENSG00000080345 99 0 0.00 94 17 15.32 - - - RIMS2 0 genome.wustl.edu 37 8 104709398 104709398 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 104709398 104709398 T G SNP RIMS2 ENST00000406091 human ensembl 69_37n +1 known silent c.261 p.G87 0.938 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 276 0 0.00 214 73 25.35 - - - RIMS2 0 genome.wustl.edu 37 8 105025835 105025835 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 105025835 105025835 A C SNP RIMS2 ENST00000406091 human ensembl 69_37n +1 known silent c.3210 p.S1070 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 152 1 0.65 73 23 23.71 - - - RIMS2 0 genome.wustl.edu 37 8 105263949 105263949 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 105263949 105263949 A C SNP RIMS2 ENST00000406091 human ensembl 69_37n +1 known silent c.3951 p.P1317 0.998 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 377 2 0.53 292 49 14.33 - - - RIPPLY1 0 genome.wustl.edu 37 X 106144713 106144713 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 106144713 106144713 T G SNP RIPPLY1 ENST00000276173 human ensembl 69_37n -1 known missense c.287 p.H96P 1.000 NULL NULL - no_errors RIPPLY1 HGNC ENSG00000147223 202 1 0.49 120 22 15.49 - - - RNASE4 0 genome.wustl.edu 37 14 21167836 21167836 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 21167836 21167836 T G SNP RNASE4 ENST00000304704 human ensembl 69_37n +1 known silent c.306 p.G102 0.983 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE4 HGNC ENSG00000181784 345 0 0.00 261 41 13.53 - - - RNF103 0 genome.wustl.edu 37 2 86832518 86832518 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 86832518 86832518 A C SNP RNF103 ENST00000237455 human ensembl 69_37n -1 known missense c.506 p.V169G 0.987 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 178 1 0.56 92 20 17.70 - - - RNF111 0 genome.wustl.edu 37 15 59350671 59350671 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 59350671 59350671 A C SNP RNF111 ENST00000434298 human ensembl 69_37n +1 known missense c.1288 p.T430P 0.994 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 616 0 0.00 390 50 11.36 - - - RNF122 0 genome.wustl.edu 37 8 33408602 33408602 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 33408602 33408602 A C SNP RNF122 ENST00000256257 human ensembl 69_37n -1 known missense c.230 p.V77G 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF122 HGNC ENSG00000133874 201 0 0.00 207 30 12.55 - - - RNF123 0 genome.wustl.edu 37 3 49735342 49735342 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 49735342 49735342 A C SNP RNF123 ENST00000327697 human ensembl 69_37n +1 known missense c.367 p.T123P 0.999 superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 147 1 0.67 74 16 17.39 - - - RNF128 0 genome.wustl.edu 37 X 106034297 106034297 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 106034297 106034297 T G SNP RNF128 ENST00000255499 human ensembl 69_37n +1 known missense c.986 p.V329G 0.997 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 352 2 0.56 230 33 12.55 - - - RNF14 0 genome.wustl.edu 37 5 141354478 141354478 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 141354478 141354478 A C SNP RNF14 ENST00000347642 human ensembl 69_37n +1 known silent c.264 p.P88 0.993 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF14 HGNC ENSG00000013561 187 0 0.00 178 40 18.18 - - - RNF144B 0 genome.wustl.edu 37 6 18457500 18457500 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 18457500 18457500 A C SNP RNF144B ENST00000259939 human ensembl 69_37n +1 known missense c.446 p.H149P 0.997 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC - no_errors RNF144B HGNC ENSG00000137393 419 0 0.00 315 38 10.70 - - - RNF148 0 genome.wustl.edu 37 7 122342347 122342347 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 122342347 122342347 A C SNP RNF148 ENST00000434824 human ensembl 69_37n -1 known missense c.458 p.V153G 0.998 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 419 0 0.00 311 56 15.26 - - - RNF182 0 genome.wustl.edu 37 6 13977941 13977941 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 13977941 13977941 A C SNP RNF182 ENST00000488300 human ensembl 69_37n +1 known missense c.591 p.L197F 0.984 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF182 HGNC ENSG00000180537 384 3 0.77 210 28 11.67 - - - RNF19A 0 genome.wustl.edu 37 8 101273925 101273925 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 101273925 101273925 A C SNP RNF19A ENST00000341084 human ensembl 69_37n -1 known silent c.1527 p.G509 0.988 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 148 0 0.00 123 17 12.14 - - - RNF213 0 genome.wustl.edu 37 17 78321542 78321542 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 78321542 78321542 A C SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known missense c.9407 p.H3136P 1.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 43 0 0.00 21 13 38.24 - - - RNF220 0 genome.wustl.edu 37 1 44878056 44878056 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 44878056 44878056 A C SNP RNF220 ENST00000355387 human ensembl 69_37n +1 known missense c.287 p.H96P 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 301 3 0.98 320 61 15.84 - - - RNF34 0 genome.wustl.edu 37 12 121854108 121854108 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 121854108 121854108 A C SNP RNF34 ENST00000392465 human ensembl 69_37n +1 known silent c.156 p.P52 0.998 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF34 HGNC ENSG00000170633 182 0 0.00 199 39 16.32 - - - RNF8 0 genome.wustl.edu 37 6 37336598 37336598 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 37336598 37336598 T G SNP RNF8 ENST00000373479 human ensembl 69_37n +1 known silent c.579 p.G193 0.000 pirsf_E3_Ub_ligase_RNF8 pfam_FHA_dom,pfam_Znf_C3HC4_RING-type,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pirsf_E3_Ub_ligase_RNF8,pfscan_FHA_dom,pfscan_Znf_RING - no_errors RNF8 HGNC ENSG00000112130 125 1 0.79 75 29 27.88 - - - RNLS 0 genome.wustl.edu 37 10 90332663 90332663 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 90332663 90332663 T G SNP RNLS ENST00000331772 human ensembl 69_37n -1 known missense c.523 p.T175P 0.285 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 163 0 0.00 125 33 20.89 - - - RNLS 0 genome.wustl.edu 37 10 90332666 90332666 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 90332666 90332666 T G SNP RNLS ENST00000331772 human ensembl 69_37n -1 known missense c.520 p.T174P 0.000 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 161 1 0.62 116 43 27.04 - - - ROBO1 0 genome.wustl.edu 37 3 79639000 79639000 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 79639000 79639000 T G SNP ROBO1 ENST00000464233 human ensembl 69_37n -1 known missense c.62 p.H21P 0.002 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 243 0 0.00 181 33 15.42 - - - ROBO4 0 genome.wustl.edu 37 11 124756675 124756675 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 124756675 124756675 T G SNP ROBO4 ENST00000306534 human ensembl 69_37n -1 known missense c.2479 p.T827P 1.000 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 ROBO4 HGNC ENSG00000154133 71 0 0.00 35 13 27.08 - - - ROBO4 0 genome.wustl.edu 37 11 124756685 124756685 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 124756685 124756685 T G SNP ROBO4 ENST00000306534 human ensembl 69_37n -1 known silent c.2469 p.S823 0.670 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 ROBO4 HGNC ENSG00000154133 66 0 0.00 36 12 25.00 - - - RORC 0 genome.wustl.edu 37 1 151785948 151785948 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 151785948 151785948 A C SNP RORC ENST00000480719 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RORC HGNC ENSG00000143365 111 1 0.89 129 20 13.42 - - - ROS1 0 genome.wustl.edu 37 6 117642512 117642512 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 117642512 117642512 A C SNP ROS1 ENST00000368508 human ensembl 69_37n -1 known missense c.5687 p.V1896G 0.003 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 251 0 0.00 176 33 15.79 - - - ROS1 0 genome.wustl.edu 37 6 117711008 117711008 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 117711008 117711008 A C SNP ROS1 ENST00000368508 human ensembl 69_37n -1 known missense c.1264 p.Y422D 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 120 0 0.00 73 17 18.89 - - - RP1L1 0 genome.wustl.edu 37 8 10465893 10465893 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 10465893 10465893 A C SNP RP1L1 ENST00000382483 human ensembl 69_37n -1 known silent c.5715 p.G1905 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 425 4 0.92 283 59 17.10 - - - RP1L1 0 genome.wustl.edu 37 8 10466145 10466145 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 10466145 10466145 T C SNP RP1L1 ENST00000382483 human ensembl 69_37n -1 known silent c.5463 p.G1821 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 370 2 0.54 260 50 16.13 - - - RP1L1 0 genome.wustl.edu 37 8 10466253 10466253 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 10466253 10466253 A C SNP RP1L1 ENST00000382483 human ensembl 69_37n -1 known missense c.5355 p.S1785R 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 299 1 0.33 190 28 12.79 - - - RPAP1 0 genome.wustl.edu 37 15 41827724 41827724 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 41827724 41827724 A C SNP RPAP1 ENST00000304330 human ensembl 69_37n -1 known missense c.527 p.V176G 0.007 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 109 1 0.90 153 18 10.53 - - - RPH3A 0 genome.wustl.edu 37 12 113285524 113285524 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 113285524 113285524 A C SNP RPH3A ENST00000389385 human ensembl 69_37n +1 known missense c.107 p.H36P 0.958 pfam_Rabphilin3A_effector_Zn-bd pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RPH3A HGNC ENSG00000089169 72 0 0.00 85 21 19.63 - - - RPL12 0 genome.wustl.edu 37 9 130210055 130210055 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 130210055 130210055 A C SNP RPL12 ENST00000497322 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RPL12 HGNC ENSG00000197958 344 2 0.58 224 62 21.68 - - - RPL12 0 genome.wustl.edu 37 9 130210060 130210060 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 130210060 130210060 A C SNP RPL12 ENST00000497322 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RPL12 HGNC ENSG00000197958 344 2 0.58 237 51 17.71 - - - RPL12 0 genome.wustl.edu 37 9 130210124 130210124 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 130210124 130210124 A C SNP RPL12 ENST00000497322 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RPL12 HGNC ENSG00000197958 222 0 0.00 161 20 11.05 - - - RPL3 0 genome.wustl.edu 37 22 39709673 39709673 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 39709673 39709673 A C SNP RPL3 ENST00000216146 human ensembl 69_37n -1 known missense c.1013 p.V338G 1.000 pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel - no_errors RPL3 HGNC ENSG00000100316 189 0 0.00 119 20 14.39 - - - RPL3 0 genome.wustl.edu 37 22 39713577 39713577 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 39713577 39713577 A C SNP RPL3 ENST00000216146 human ensembl 69_37n -1 known missense c.254 p.V85G 1.000 pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel - no_errors RPL3 HGNC ENSG00000100316 104 1 0.95 94 20 17.54 - - - RPL7L1 0 genome.wustl.edu 37 6 42854090 42854090 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 42854090 42854090 A C SNP RPL7L1 ENST00000304734 human ensembl 69_37n +1 known missense c.629 p.H210P 0.031 superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk pfam_Ribosomal_L30_ferredoxin-like,pfam_Ribosomal_L30_N,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk - no_errors RPL7L1 HGNC ENSG00000146223 55 0 0.00 48 16 24.62 - - - RPN2 0 genome.wustl.edu 37 20 35856996 35856996 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 35856996 35856996 T G SNP RPN2 ENST00000237530 human ensembl 69_37n +1 known missense c.1343 p.V448G 1.000 pfam_Ribophorin_II pfam_Ribophorin_II - no_errors RPN2 HGNC ENSG00000118705 58 0 0.00 58 14 19.44 - - - RPRD2 0 genome.wustl.edu 37 1 150443734 150443734 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 150443734 150443734 A C SNP RPRD2 ENST00000369068 human ensembl 69_37n +1 known silent c.2310 p.P770 0.995 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC ENSG00000163125 109 0 0.00 205 44 17.67 - - - RPS14 0 genome.wustl.edu 37 5 149826502 149826502 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 149826502 149826502 A C SNP RPS14 ENST00000312037 human ensembl 69_37n -1 known silent c.174 p.G58 1.000 pfam_Ribosomal_S11,pirsf_Ribosomal_S11 pfam_Ribosomal_S11,pirsf_Ribosomal_S11 - no_errors RPS14 HGNC ENSG00000164587 108 1 0.92 137 28 16.97 - - - RREB1 0 genome.wustl.edu 37 6 7211829 7211829 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 7211829 7211829 T G SNP RREB1 ENST00000379938 human ensembl 69_37n +1 known silent c.594 p.G198 0.262 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 67 0 0.00 56 14 20.00 - - - RREB1 0 genome.wustl.edu 37 6 7229820 7229820 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 7229820 7229820 A C SNP RREB1 ENST00000379938 human ensembl 69_37n +1 known silent c.1488 p.P496 0.046 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 171 1 0.58 89 19 17.59 - - - RSC1A1 0 genome.wustl.edu 37 1 15988079 15988079 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 15988079 15988079 T C SNP RSC1A1 ENST00000345034 human ensembl 69_37n +1 known silent c.1716 p.F572 1.000 superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors RSC1A1 HGNC ENSG00000215695 171 1 0.58 144 28 16.28 - - - RSPH1 0 genome.wustl.edu 37 21 43896156 43896156 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 43896156 43896156 A C SNP RSPH1 ENST00000291536 human ensembl 69_37n -1 known missense c.729 p.S243R 0.000 NULL pfam_MORN,smart_MORN - no_errors RSPH1 HGNC ENSG00000160188 36 0 0.00 34 6 15.00 - - - RSPH4A 0 genome.wustl.edu 37 6 116949424 116949424 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 116949424 116949424 T G SNP RSPH4A ENST00000229554 human ensembl 69_37n +1 known silent c.1554 p.G518 0.001 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 267 0 0.00 194 44 18.49 - - - RSPH9 0 genome.wustl.edu 37 6 43623404 43623404 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 43623404 43623404 A C SNP RSPH9 ENST00000372165 human ensembl 69_37n +1 known missense c.454 p.T152P 0.004 NULL NULL - no_errors RSPH9 HGNC ENSG00000172426 257 2 0.77 306 53 14.64 - - - RSRC1 0 genome.wustl.edu 37 3 157920910 157920910 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 157920910 157920910 T G SNP RSRC1 ENST00000295930 human ensembl 69_37n +1 known missense c.370 p.S124A 0.997 NULL NULL - no_errors RSRC1 HGNC ENSG00000174891 81 0 0.00 55 17 23.61 - - - RTN1 0 genome.wustl.edu 37 14 60212606 60212606 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 60212606 60212606 T G SNP RTN1 ENST00000267484 human ensembl 69_37n -1 known missense c.835 p.T279P 0.850 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 306 1 0.33 231 42 15.27 - - - RUFY2 0 genome.wustl.edu 37 10 70139109 70139110 + RNA INS - - G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 70139109 70139110 - G INS RUFY2 ENST00000491118 human ensembl 69_37n -1 known rna NULL NULL 1.000:0.997 - - - no_errors RUFY2 HGNC ENSG00000204130 41 0 0.00 51 6 10.53 - - - RUSC2 0 genome.wustl.edu 37 9 35558518 35558518 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 35558518 35558518 A C SNP RUSC2 ENST00000361226 human ensembl 69_37n +1 known missense c.3295 p.T1099P 1.000 pfam_Run,pfscan_Run pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 273 2 0.73 191 33 14.67 - - - RYR1 0 genome.wustl.edu 37 19 38948813 38948813 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 38948813 38948813 T G SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.2048 p.V683G 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 209 2 0.95 137 36 20.57 - - - RYR2 0 genome.wustl.edu 37 1 237617789 237617789 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 237617789 237617789 A C SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.1385 p.H462P 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 122 1 0.81 170 26 13.27 - - - RYR2 0 genome.wustl.edu 37 1 237756828 237756828 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 237756828 237756828 T G SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.4322 p.V1441G 1.000 pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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 141 0 0.00 150 32 17.49 - - - RYR3 0 genome.wustl.edu 37 15 33928600 33928600 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 33928600 33928600 T G SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.3405 p.S1135R 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 317 1 0.31 218 27 10.89 - - - RYR3 0 genome.wustl.edu 37 15 33941337 33941337 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 33941337 33941337 T G SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.4043 p.V1348G 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 109 0 0.00 69 22 24.18 - - - RYR3 0 genome.wustl.edu 37 15 34147040 34147040 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 34147040 34147040 A C SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.13934 p.H4645P 1.000 pfam_Ion_trans_dom pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 263 1 0.38 212 34 13.71 - - - S100A1 0 genome.wustl.edu 37 1 153604391 153604391 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 153604391 153604391 A C SNP S100A1 ENST00000469893 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors S100A1 HGNC ENSG00000160678 57 0 0.00 69 24 25.53 - - - SAAL1 0 genome.wustl.edu 37 11 18112035 18112035 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 18112035 18112035 A C SNP SAAL1 ENST00000524803 human ensembl 69_37n -1 known missense c.419 p.V140G 0.986 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors SAAL1 HGNC ENSG00000166788 68 0 0.00 46 15 24.59 - - - SACS 0 genome.wustl.edu 37 13 23927962 23927962 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 23927962 23927962 T G SNP SACS ENST00000382292 human ensembl 69_37n -1 known missense c.2147 p.H716P 1.000 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 119 0 0.00 90 16 15.09 - - - SACS 0 genome.wustl.edu 37 13 23929123 23929123 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 23929123 23929123 A C SNP SACS ENST00000382292 human ensembl 69_37n -1 known missense c.1628 p.V543G 0.000 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 167 1 0.59 178 21 10.40 - - - SAGE1 0 genome.wustl.edu 37 X 134978440 134978440 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 134978440 134978440 A C SNP SAGE1 ENST00000324447 human ensembl 69_37n +1 known silent c.39 p.P13 0.000 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 179 1 0.56 130 23 15.03 - - - SALL1 0 genome.wustl.edu 37 16 51171317 51171317 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 51171317 51171317 A C SNP SALL1 ENST00000251020 human ensembl 69_37n -1 known missense c.3681 p.S1227R 0.831 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 79 0 0.00 34 5 12.82 - - - SAMD3 0 genome.wustl.edu 37 6 130465948 130465948 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 130465948 130465948 A C SNP SAMD3 ENST00000368134 human ensembl 69_37n -1 known missense c.1280 p.V427G 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 126 0 0.00 101 12 10.62 - - - SAMD9L 0 genome.wustl.edu 37 7 92760726 92760726 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 92760726 92760726 T G SNP SAMD9L ENST00000318238 human ensembl 69_37n -1 known missense c.4559 p.D1520A 0.002 NULL superfamily_SAM/pointed,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 570 3 0.52 403 59 12.74 - - - SASH1 0 genome.wustl.edu 37 6 148865694 148865694 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 148865694 148865694 A C SNP SASH1 ENST00000367467 human ensembl 69_37n +1 known missense c.3088 p.T1030P 0.007 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 52 0 0.00 33 15 31.25 - - - SASS6 0 genome.wustl.edu 37 1 100568530 100568530 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 100568530 100568530 T G SNP SASS6 ENST00000287482 human ensembl 69_37n -1 known missense c.1655 p.H552P 0.721 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 137 1 0.72 78 25 24.27 - - - SBF2 0 genome.wustl.edu 37 11 10052691 10052691 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 10052691 10052691 A C SNP SBF2 ENST00000256190 human ensembl 69_37n -1 known silent c.306 p.G102 0.998 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 309 0 0.00 329 42 11.32 - - - SCAF8 0 genome.wustl.edu 37 6 155126571 155126571 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 155126571 155126571 A C SNP SCAF8 ENST00000367186 human ensembl 69_37n +1 known missense c.1130 p.N377T 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 163 1 0.61 113 24 17.52 - - - SCAF8 0 genome.wustl.edu 37 6 155145466 155145466 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 155145466 155145466 A C SNP SCAF8 ENST00000367186 human ensembl 69_37n +1 known silent c.2223 p.P741 0.978 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 479 1 0.21 459 80 14.76 - - - SCAF8 0 genome.wustl.edu 37 6 155148331 155148331 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 155148331 155148331 A C SNP SCAF8 ENST00000367186 human ensembl 69_37n +1 known silent c.2295 p.P765 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 361 1 0.28 233 37 13.60 - - - SCAF8 0 genome.wustl.edu 37 6 155153554 155153554 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 155153554 155153554 A C SNP SCAF8 ENST00000367186 human ensembl 69_37n +1 known silent c.3039 p.P1013 0.987 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 454 0 0.00 249 32 11.35 - - - SCAF8 0 genome.wustl.edu 37 6 155153572 155153572 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 155153572 155153572 A C SNP SCAF8 ENST00000367186 human ensembl 69_37n +1 known silent c.3057 p.P1019 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 442 1 0.23 233 57 19.66 - - - SCAF8 0 genome.wustl.edu 37 6 155153608 155153608 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 155153608 155153608 A C SNP SCAF8 ENST00000367186 human ensembl 69_37n +1 known silent c.3093 p.P1031 0.997 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 433 4 0.91 266 39 12.75 - - - SCAND3 0 genome.wustl.edu 37 6 28554127 28554127 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 28554127 28554127 A C SNP SCAND3 ENST00000452236 human ensembl 69_37n -1 known missense c.368 p.V123G 0.512 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 259 2 0.77 230 38 14.13 - - - SCARA5 0 genome.wustl.edu 37 8 27737282 27737282 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 27737282 27737282 A C SNP SCARA5 ENST00000354914 human ensembl 69_37n -1 known missense c.1155 p.S385R 0.992 NULL pfam_Srcr_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors SCARA5 HGNC ENSG00000168079 38 0 0.00 47 21 30.43 - - - SCARB1 0 genome.wustl.edu 37 12 125292371 125292371 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 125292371 125292371 T G SNP SCARB1 ENST00000415380 human ensembl 69_37n -1 known silent c.945 p.P315 0.329 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 109 1 0.91 83 15 15.15 - - - SCD5 0 genome.wustl.edu 37 4 83626523 83626523 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 83626523 83626523 A C SNP SCD5 ENST00000319540 human ensembl 69_37n -1 known silent c.276 p.G92 0.863 pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD5 HGNC ENSG00000145284 46 0 0.00 43 9 16.67 - - - SCEL 0 genome.wustl.edu 37 13 78133959 78133959 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 78133959 78133959 T G SNP SCEL ENST00000349847 human ensembl 69_37n +1 known missense c.182 p.V61G 1.000 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 274 1 0.36 237 44 15.66 - - - SCEL 0 genome.wustl.edu 37 13 78184243 78184243 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 78184243 78184243 T G SNP SCEL ENST00000349847 human ensembl 69_37n +1 known splice_site c.1337+2 e21+2 1.000 - - - no_errors SCEL HGNC ENSG00000136155 145 0 0.00 105 17 13.82 - - - SCG2 0 genome.wustl.edu 37 2 224462307 224462307 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 224462307 224462307 A C SNP SCG2 ENST00000305409 human ensembl 69_37n -1 known missense c.1694 p.V565G 0.003 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 286 0 0.00 152 30 16.30 - - - SCG2 0 genome.wustl.edu 37 2 224462747 224462747 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 224462747 224462747 T G SNP SCG2 ENST00000305409 human ensembl 69_37n -1 known silent c.1254 p.T418 0.000 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 322 1 0.31 163 22 11.76 - - - SCML2 0 genome.wustl.edu 37 X 18323137 18323137 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 18323137 18323137 A C SNP SCML2 ENST00000251900 human ensembl 69_37n -1 known missense c.685 p.W229G 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SCML2 HGNC ENSG00000102098 442 1 0.23 534 74 12.13 - - - SCN10A 0 genome.wustl.edu 37 3 38783874 38783874 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 38783874 38783874 T G SNP SCN10A ENST00000449082 human ensembl 69_37n -1 known missense c.2014 p.T672P 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 148 1 0.67 118 24 16.78 - - - SCN10A 0 genome.wustl.edu 37 3 38783992 38783992 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 38783992 38783992 T G SNP SCN10A ENST00000449082 human ensembl 69_37n -1 known silent c.1896 p.P632 0.981 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 226 1 0.44 187 35 15.77 - - - SCN2A 0 genome.wustl.edu 37 2 166245526 166245526 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 166245526 166245526 A C SNP SCN2A ENST00000283256 human ensembl 69_37n +1 known missense c.5210 p.H1737P 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 773 3 0.38 396 45 10.20 - - - SCN3A 0 genome.wustl.edu 37 2 165947468 165947468 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 165947468 165947468 T G SNP SCN3A ENST00000283254 human ensembl 69_37n -1 known missense c.5195 p.H1732P 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN3A HGNC ENSG00000153253 422 0 0.00 340 49 12.56 - - - SCN3B 0 genome.wustl.edu 37 11 123508970 123508970 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 123508970 123508970 T G SNP SCN3B ENST00000299333 human ensembl 69_37n -1 known missense c.508 p.T170P 1.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors SCN3B HGNC ENSG00000166257 75 0 0.00 69 15 17.86 - - - SCN5A 0 genome.wustl.edu 37 3 38592335 38592335 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 38592335 38592335 A C SNP SCN5A ENST00000333535 human ensembl 69_37n -1 known missense c.5528 p.V1843G 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 160 0 0.00 131 24 15.29 - - - SCN7A 0 genome.wustl.edu 37 2 167262332 167262332 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 167262332 167262332 A C SNP SCN7A ENST00000409855 human ensembl 69_37n -1 known missense c.4807 p.F1603V 0.914 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 408 0 0.00 286 32 10.06 - - - SCN9A 0 genome.wustl.edu 37 2 167141110 167141110 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 167141110 167141110 T G SNP SCN9A ENST00000303354 human ensembl 69_37n -1 known silent c.1830 p.P610 0.109 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 131 0 0.00 95 24 20.17 - - - SCRN1 0 genome.wustl.edu 37 7 29983717 29983717 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 29983717 29983717 A C SNP SCRN1 ENST00000434476 human ensembl 69_37n -1 known silent c.480 p.G160 0.965 pfam_Peptidase_C69 pfam_Peptidase_C69 - no_errors SCRN1 HGNC ENSG00000136193 80 0 0.00 107 29 21.17 - - - SDK1 0 genome.wustl.edu 37 7 4051820 4051820 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 4051820 4051820 A C SNP SDK1 ENST00000404826 human ensembl 69_37n +1 known silent c.2373 p.P791 0.016 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 152 0 0.00 162 44 21.15 - - - SDK1 0 genome.wustl.edu 37 7 4119151 4119151 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 4119151 4119151 A C SNP SDK1 ENST00000404826 human ensembl 69_37n +1 known missense c.3259 p.T1087P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 103 1 0.94 117 31 20.67 - - - SEC61A2 0 genome.wustl.edu 37 10 12197867 12197867 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 12197867 12197867 A C SNP SEC61A2 ENST00000298428 human ensembl 69_37n +1 known missense c.553 p.T185P 1.000 pfam_SecY,superfamily_SecY_su_dom,pirsf_SecY,tigrfam_SecY pfam_SecY,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY,tigrfam_SecY - no_errors SEC61A2 HGNC ENSG00000065665 324 2 0.61 361 66 15.46 - - - SEC62 0 genome.wustl.edu 37 3 169700701 169700701 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 169700701 169700701 T G SNP SEC62 ENST00000337002 human ensembl 69_37n +1 known splice_site c.456+2 e4+2 1.000 - - - no_errors SEC62 HGNC ENSG00000008952 98 0 0.00 61 18 22.22 - - - SECISBP2L 0 genome.wustl.edu 37 15 49325254 49325254 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 49325254 49325254 A C SNP SECISBP2L ENST00000559471 human ensembl 69_37n -1 known missense c.572 p.V191G 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 124 0 0.00 111 33 22.76 - - - SEMA6A 0 genome.wustl.edu 37 5 115782889 115782889 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 115782889 115782889 A C SNP SEMA6A ENST00000257414 human ensembl 69_37n -1 known missense c.2564 p.V855G 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6A HGNC ENSG00000092421 190 0 0.00 193 37 16.02 - - - SEMA6A 0 genome.wustl.edu 37 5 115813553 115813553 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 115813553 115813553 T G SNP SEMA6A ENST00000515129 human ensembl 69_37n -1 putative missense c.347 p.H116P 0.505 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SEMA6A HGNC ENSG00000092421 166 1 0.60 160 26 13.98 - - - SEPHS2 0 genome.wustl.edu 37 16 30455971 30455971 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 30455971 30455971 A C SNP SEPHS2 ENST00000542752 human ensembl 69_37n -1 known missense c.907 p.F303V 0.999 pfam_AIR_synth_C,superfamily_AIR_synth_C,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C,pfam_AIR_synth,superfamily_AIR_synth_C,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC ENSG00000179918 106 0 0.00 66 18 21.43 - - - SEPT10 0 genome.wustl.edu 37 2 110303611 110303611 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 110303611 110303611 T G SNP SEPT10 ENST00000468616 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SEPT10 HGNC ENSG00000186522 94 0 0.00 67 22 24.44 - - - SEPT3 0 genome.wustl.edu 37 22 42392935 42392935 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 42392935 42392935 A C SNP SEPT3 ENST00000396426 human ensembl 69_37n +1 known silent c.1041 p.P347 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3 - no_errors SEPT3 HGNC ENSG00000100167 150 0 0.00 76 23 23.00 - - - SEPT8 0 genome.wustl.edu 37 5 132097264 132097264 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 132097264 132097264 A C SNP SEPT8 ENST00000378719 human ensembl 69_37n -1 known missense c.848 p.V283G 1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin - no_errors SEPT8 HGNC ENSG00000164402 64 0 0.00 45 13 22.41 - - - SEPW1 0 genome.wustl.edu 37 19 48284389 48284389 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 48284389 48284389 A C SNP SEPW1 ENST00000509570 human ensembl 69_37n +1 known missense c.136 p.T46P 0.998 pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors SEPW1 HGNC ENSG00000178980 222 0 0.00 209 31 12.92 - - - SERINC5 0 genome.wustl.edu 37 5 79465268 79465268 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 79465268 79465268 A C SNP SERINC5 ENST00000509193 human ensembl 69_37n -1 known missense c.653 p.V218G 0.390 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC5 HGNC ENSG00000164300 78 0 0.00 96 17 14.91 - - - SERPINA11 0 genome.wustl.edu 37 14 94914955 94914955 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 94914955 94914955 T G SNP SERPINA11 ENST00000334708 human ensembl 69_37n -1 known missense c.157 p.T53P 0.891 superfamily_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINA11 HGNC ENSG00000186910 262 2 0.75 235 29 10.86 - - - SERPINA12 0 genome.wustl.edu 37 14 94956064 94956064 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 94956064 94956064 T G SNP SERPINA12 ENST00000341228 human ensembl 69_37n -1 known missense c.946 p.T316P 0.058 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINA12 HGNC ENSG00000165953 75 0 0.00 83 15 15.31 - - - SERPINA7 0 genome.wustl.edu 37 X 105279125 105279125 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 105279125 105279125 A C SNP SERPINA7 ENST00000327674 human ensembl 69_37n -1 known missense c.874 p.W292G 1.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA7 HGNC ENSG00000123561 451 0 0.00 335 38 10.13 - - - SERPINA9 0 genome.wustl.edu 37 14 94942557 94942557 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 94942557 94942557 A C SNP SERPINA9 ENST00000546329 human ensembl 69_37n -1 known missense c.35 p.V12G 0.149 NULL pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINA9 HGNC ENSG00000170054 272 1 0.37 197 36 15.38 - - - SERPINB12 0 genome.wustl.edu 37 18 61232745 61232745 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 61232745 61232745 T G SNP SERPINB12 ENST00000269491 human ensembl 69_37n +1 known missense c.713 p.V238G 0.954 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB12 HGNC ENSG00000166634 207 2 0.95 194 36 15.58 - - - SERPINB13 0 genome.wustl.edu 37 18 61256948 61256948 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 61256948 61256948 T G SNP SERPINB13 ENST00000438844 human ensembl 69_37n +1 known splice_site c.222+2 e2+2 0.855 - - - no_errors SERPINB13 HGNC ENSG00000197641 213 0 0.00 150 29 16.11 - - - SERPINB13 0 genome.wustl.edu 37 18 61264263 61264263 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 61264263 61264263 T G SNP SERPINB13 ENST00000344731 human ensembl 69_37n +1 known missense c.842 p.V281G 0.981 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB13 HGNC ENSG00000197641 204 1 0.48 149 28 15.64 - - - SERPINB6 0 genome.wustl.edu 37 6 2948932 2948932 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 2948932 2948932 A C SNP SERPINB6 ENST00000335686 human ensembl 69_37n -1 known missense c.731 p.V244G 1.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB6 HGNC ENSG00000124570 183 1 0.54 154 29 15.85 - - - SERPINB9 0 genome.wustl.edu 37 6 2890549 2890549 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 2890549 2890549 T G SNP SERPINB9 ENST00000380698 human ensembl 69_37n -1 known missense c.979 p.T327P 1.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB9 HGNC ENSG00000170542 187 1 0.53 180 29 13.74 - - - SERPINI2 0 genome.wustl.edu 37 3 167183401 167183401 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 167183401 167183401 A C SNP SERPINI2 ENST00000264677 human ensembl 69_37n -1 known missense c.539 p.V180G 1.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINI2 HGNC ENSG00000114204 138 0 0.00 89 27 23.28 - - - SETBP1 0 genome.wustl.edu 37 18 42530953 42530953 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 42530953 42530953 A C SNP SETBP1 ENST00000282030 human ensembl 69_37n +1 known missense c.1648 p.T550P 0.998 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 355 0 0.00 393 46 10.48 - - - SETD5 0 genome.wustl.edu 37 3 9506511 9506511 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 9506511 9506511 A C SNP SETD5 ENST00000488236 human ensembl 69_37n +1 known rna NULL NULL 0.150 - - - no_errors SETD5 HGNC ENSG00000168137 73 0 0.00 77 18 18.56 - - - SETDB1 0 genome.wustl.edu 37 1 150935494 150935494 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 150935494 150935494 T G SNP SETDB1 ENST00000271640 human ensembl 69_37n +1 known missense c.3336 p.S1112R 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 95 0 0.00 192 31 13.90 - - - SFMBT1 0 genome.wustl.edu 37 3 52941319 52941319 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 52941319 52941319 A C SNP SFMBT1 ENST00000358080 human ensembl 69_37n -1 known silent c.2097 p.G699 0.955 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 200 0 0.00 247 36 12.72 - - - SFMBT2 0 genome.wustl.edu 37 10 7325873 7325873 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 7325873 7325873 T G SNP SFMBT2 ENST00000361972 human ensembl 69_37n -1 known silent c.765 p.P255 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 211 0 0.00 203 37 15.29 - - - SFPQ 0 genome.wustl.edu 37 1 35650153 35650153 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 35650153 35650153 A C SNP SFPQ ENST00000357214 human ensembl 69_37n -1 known silent c.2028 p.G676 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors SFPQ HGNC ENSG00000116560 132 0 0.00 125 29 18.83 - - - SGCA 0 genome.wustl.edu 37 17 48245341 48245341 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 48245341 48245341 A C SNP SGCA ENST00000262018 human ensembl 69_37n +1 known missense c.346 p.T116P 0.983 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCA HGNC ENSG00000108823 125 0 0.00 112 19 14.50 - - - SGIP1 0 genome.wustl.edu 37 1 67101647 67101647 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 67101647 67101647 A C SNP SGIP1 ENST00000371037 human ensembl 69_37n +1 known silent c.120 p.P40 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 218 0 0.00 169 32 15.92 - - - SGK1 0 genome.wustl.edu 37 6 134492862 134492862 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 134492862 134492862 T G SNP SGK1 ENST00000367858 human ensembl 69_37n -1 known silent c.1080 p.A360 0.428 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors SGK1 HGNC ENSG00000118515 50 0 0.00 35 4 10.26 - - - SH2D4A 0 genome.wustl.edu 37 8 19221743 19221743 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 19221743 19221743 A C SNP SH2D4A ENST00000265807 human ensembl 69_37n +1 known silent c.867 p.P289 0.827 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D4A HGNC ENSG00000104611 101 1 0.98 85 22 20.37 - - - SH3BGR 0 genome.wustl.edu 37 21 40834397 40834397 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 40834397 40834397 T G SNP SH3BGR ENST00000333634 human ensembl 69_37n +1 known missense c.331 p.W111G 1.000 pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold - no_errors SH3BGR HGNC ENSG00000185437 127 1 0.78 56 15 21.13 - - - SH3BGR 0 genome.wustl.edu 37 21 40871772 40871772 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 40871772 40871772 T G SNP SH3BGR ENST00000333634 human ensembl 69_37n +1 known silent c.525 p.G175 0.472 NULL pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold - no_errors SH3BGR HGNC ENSG00000185437 99 0 0.00 102 22 17.74 - - - SH3BGRL 0 genome.wustl.edu 37 X 80553021 80553021 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 80553021 80553021 A C SNP SH3BGRL ENST00000463546 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SH3BGRL HGNC ENSG00000131171 9 0 0.00 2 5 71.43 - - - SH3KBP1 0 genome.wustl.edu 37 X 19702029 19702029 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 19702029 19702029 A C SNP SH3KBP1 ENST00000397821 human ensembl 69_37n -1 known missense c.638 p.V213G 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 301 2 0.66 350 53 13.12 - - - SH3KBP1 0 genome.wustl.edu 37 X 19713836 19713836 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 19713836 19713836 A C SNP SH3KBP1 ENST00000397821 human ensembl 69_37n -1 known silent c.414 p.G138 0.725 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 192 1 0.52 108 39 26.17 - - - SH3RF2 0 genome.wustl.edu 37 5 145393577 145393577 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 145393577 145393577 A C SNP SH3RF2 ENST00000359120 human ensembl 69_37n +1 known missense c.1012 p.T338P 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING - no_errors SH3RF2 HGNC ENSG00000156463 486 2 0.41 434 70 13.86 - - - SH3TC2 0 genome.wustl.edu 37 5 148406644 148406644 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 148406644 148406644 T G SNP SH3TC2 ENST00000515425 human ensembl 69_37n -1 known missense c.2651 p.H884P 0.608 NULL pfam_SH3_domain,pfam_TPR-1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 172 0 0.00 100 20 16.53 - - - SHCBP1 0 genome.wustl.edu 37 16 46615912 46615912 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 46615912 46615912 A C SNP SHCBP1 ENST00000303383 human ensembl 69_37n -1 known missense c.1748 p.V583G 0.005 NULL superfamily_Pectin_lyase_fold/virulence,smart_PbH1 - no_errors SHCBP1 HGNC ENSG00000171241 328 0 0.00 215 32 12.96 - - - SHISA2 0 genome.wustl.edu 37 13 26620750 26620750 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 26620750 26620750 T G SNP SHISA2 ENST00000319420 human ensembl 69_37n -1 known silent c.789 p.P263 0.023 NULL NULL - no_errors SHISA2 HGNC ENSG00000180730 53 0 0.00 39 11 22.00 - - - SHISA4 0 genome.wustl.edu 37 1 201860688 201860688 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 201860688 201860688 A C SNP SHISA4 ENST00000362011 human ensembl 69_37n +1 known missense c.539 p.N180T 1.000 NULL NULL - no_errors SHISA4 HGNC ENSG00000198892 141 1 0.69 177 31 14.83 - - - SHOC2 0 genome.wustl.edu 37 10 112771491 112771491 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 112771491 112771491 A C SNP SHOC2 ENST00000369452 human ensembl 69_37n +1 known missense c.1664 p.H555P 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC ENSG00000108061 152 0 0.00 89 21 19.09 - - - SI 0 genome.wustl.edu 37 3 164758799 164758799 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 164758799 164758799 T G SNP SI ENST00000264382 human ensembl 69_37n -1 known missense c.2088 p.L696F 0.567 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 283 0 0.00 197 37 15.81 - - - SIAE 0 genome.wustl.edu 37 11 124530604 124530604 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 124530604 124530604 T G SNP SIAE ENST00000263593 human ensembl 69_37n -1 known missense c.325 p.T109P 0.002 NULL pfam_DUF303_acetylest,superfamily_Esterase_SGNH_hydro-type - no_errors SIAE HGNC ENSG00000110013 636 3 0.47 465 55 10.56 - - - SIGLEC14 0 genome.wustl.edu 37 19 52149091 52149091 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 52149091 52149091 A C SNP SIGLEC14 ENST00000360844 human ensembl 69_37n -1 known missense c.644 p.V215G 0.630 pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC14 HGNC ENSG00000254415 96 0 0.00 119 19 13.67 - - - SIGLEC7 0 genome.wustl.edu 37 19 51645822 51645822 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 51645822 51645822 T G SNP SIGLEC7 ENST00000317643 human ensembl 69_37n +1 known missense c.196 p.F66V 0.023 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC7 HGNC ENSG00000168995 146 1 0.68 107 20 15.50 - - - SIGLEC9 0 genome.wustl.edu 37 19 51628889 51628889 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 51628889 51628889 A C SNP SIGLEC9 ENST00000440804 human ensembl 69_37n +1 known missense c.457 p.T153P 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors SIGLEC9 HGNC ENSG00000129450 124 0 0.00 111 19 14.39 - - - SIK2 0 genome.wustl.edu 37 11 111591480 111591480 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 111591480 111591480 A C SNP SIK2 ENST00000304987 human ensembl 69_37n +1 known missense c.1774 p.T592P 1.000 pirsf_Ser/Thr_kinase_SIK1/2 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_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 114 0 0.00 73 19 20.43 - - - SIM2 0 genome.wustl.edu 37 21 38098508 38098508 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 38098508 38098508 T G SNP SIM2 ENST00000290399 human ensembl 69_37n +1 known missense c.632 p.V211G 1.000 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors SIM2 HGNC ENSG00000159263 54 0 0.00 55 10 15.15 - - - SIN3A 0 genome.wustl.edu 37 15 75705178 75705178 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 75705178 75705178 A G SNP SIN3A ENST00000360439 human ensembl 69_37n -1 known missense c.682 p.S228P 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 102 0 0.00 138 17 10.97 - - - SIPA1L1 0 genome.wustl.edu 37 14 72139090 72139090 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 72139090 72139090 T G SNP SIPA1L1 ENST00000555818 human ensembl 69_37n +1 known missense c.2855 p.V952G 0.998 superfamily_PDZ pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 163 0 0.00 147 18 10.84 - - - SIPA1L1 0 genome.wustl.edu 37 14 72152208 72152208 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 72152208 72152208 A C SNP SIPA1L1 ENST00000555818 human ensembl 69_37n +1 known silent c.3234 p.S1078 0.001 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 250 2 0.79 169 27 13.78 - - - SIRPB1 0 genome.wustl.edu 37 20 1551540 1551540 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 1551540 1551540 A C SNP SIRPB1 ENST00000381605 human ensembl 69_37n -1 known missense c.995 p.V332G 0.998 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPB1 HGNC ENSG00000101307 180 1 0.55 114 19 14.29 - - - SIRPB1 0 genome.wustl.edu 37 20 1552420 1552420 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 1552420 1552420 T G SNP SIRPB1 ENST00000381605 human ensembl 69_37n -1 known missense c.697 p.T233P 0.016 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPB1 HGNC ENSG00000101307 133 1 0.73 114 20 14.81 - - - SIRPB1 0 genome.wustl.edu 37 20 1600565 1600565 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 1600565 1600565 T G SNP SIRPB1 ENST00000279477 human ensembl 69_37n -1 known missense c.26 p.H9P 0.000 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPB1 HGNC ENSG00000101307 58 0 0.00 89 19 17.43 - - - SLAIN2 0 genome.wustl.edu 37 4 48384856 48384856 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 48384856 48384856 A C SNP SLAIN2 ENST00000264313 human ensembl 69_37n +1 known silent c.1134 p.P378 0.992 NULL NULL - no_errors SLAIN2 HGNC ENSG00000109171 77 0 0.00 116 17 12.78 - - - SLC12A2 0 genome.wustl.edu 37 5 127522269 127522269 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 127522269 127522269 A C SNP SLC12A2 ENST00000262461 human ensembl 69_37n +1 known silent c.3585 p.P1195 0.902 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 259 0 0.00 215 30 12.24 - - - SLC12A6 0 genome.wustl.edu 37 15 34531306 34531306 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 34531306 34531306 A C SNP SLC12A6 ENST00000558589 human ensembl 69_37n -1 known missense c.2465 p.V822G 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 236 2 0.84 250 54 17.65 - - - SLC13A2 0 genome.wustl.edu 37 17 26817463 26817463 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 26817463 26817463 A C SNP SLC13A2 ENST00000444914 human ensembl 69_37n +1 known missense c.370 p.T124P 0.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 101 0 0.00 52 16 23.53 - - - SLC13A3 0 genome.wustl.edu 37 20 45188747 45188747 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 45188747 45188747 T G SNP SLC13A3 ENST00000279027 human ensembl 69_37n -1 known missense c.1723 p.T575P 0.998 NULL pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A3 HGNC ENSG00000158296 149 1 0.66 157 21 11.73 - - - SLC13A4 0 genome.wustl.edu 37 7 135375976 135375976 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 135375976 135375976 T C SNP SLC13A4 ENST00000354042 human ensembl 69_37n -1 known silent c.1416 p.G472 0.997 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 96 0 0.00 98 12 10.91 - - - SLC14A2 0 genome.wustl.edu 37 18 43247956 43247956 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 43247956 43247956 A C SNP SLC14A2 ENST00000255226 human ensembl 69_37n +1 known missense c.1876 p.T626P 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 158 1 0.63 103 32 23.70 - - - SLC16A10 0 genome.wustl.edu 37 6 111498533 111498533 + Frame_Shift_Del DEL A A - TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 111498533 111498533 A - DEL SLC16A10 ENST00000368851 human ensembl 69_37n +1 known frame_shift_del c.607 p.N203fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A10 HGNC ENSG00000112394 103 0 0.00 70 8 10.00 - - - SLC16A13 0 genome.wustl.edu 37 17 6941834 6941834 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 6941834 6941834 A C SNP SLC16A13 ENST00000308027 human ensembl 69_37n +1 known missense c.707 p.H236P 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A13 HGNC ENSG00000174327 88 0 0.00 50 16 24.24 - - - SLC16A9 0 genome.wustl.edu 37 10 61414049 61414049 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 61414049 61414049 A C SNP SLC16A9 ENST00000395347 human ensembl 69_37n -1 known silent c.735 p.G245 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A9 HGNC ENSG00000165449 470 1 0.21 272 39 12.50 - - - SLC17A3 0 genome.wustl.edu 37 6 25845729 25845729 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 25845729 25845729 A C SNP SLC17A3 ENST00000397060 human ensembl 69_37n -1 known missense c.1378 p.W460G 0.975 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 328 0 0.00 209 29 12.08 - - - SLC17A4 0 genome.wustl.edu 37 6 25776981 25776981 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 25776981 25776981 T G SNP SLC17A4 ENST00000397076 human ensembl 69_37n +1 known silent c.456 p.G152 0.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors SLC17A4 HGNC ENSG00000146039 178 1 0.56 141 26 15.48 - - - SLC18A1 0 genome.wustl.edu 37 8 20036882 20036882 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 20036882 20036882 T G SNP SLC18A1 ENST00000276373 human ensembl 69_37n -1 known missense c.238 p.T80P 0.112 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 145 0 0.00 122 19 13.48 - - - SLC18B1 0 genome.wustl.edu 37 6 133118222 133118222 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 133118222 133118222 A C SNP SLC18B1 ENST00000275227 human ensembl 69_37n -1 known missense c.82 p.W28G 0.076 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18B1 HGNC ENSG00000146409 148 0 0.00 100 23 18.55 - - - SLC1A1 0 genome.wustl.edu 37 9 4583144 4583144 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 4583144 4583144 A C SNP SLC1A1 ENST00000262352 human ensembl 69_37n +1 known missense c.1300 p.T434P 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A1 HGNC ENSG00000106688 151 1 0.66 115 19 14.18 - - - SLC20A1 0 genome.wustl.edu 37 2 113417046 113417046 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 113417046 113417046 T G SNP SLC20A1 ENST00000272542 human ensembl 69_37n +1 known silent c.1314 p.G438 0.278 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A1 HGNC ENSG00000144136 188 0 0.00 158 28 15.05 - - - SLC22A16 0 genome.wustl.edu 37 6 110768179 110768179 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 110768179 110768179 A C SNP SLC22A16 ENST00000368919 human ensembl 69_37n -1 known missense c.548 p.V183G 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 158 1 0.62 127 23 15.33 - - - SLC22A25 0 genome.wustl.edu 37 11 62951267 62951267 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62951267 62951267 A C SNP SLC22A25 ENST00000306494 human ensembl 69_37n -1 known missense c.853 p.W285G 0.994 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A25 HGNC ENSG00000196600 258 0 0.00 170 33 16.18 - - - SLC22A4 0 genome.wustl.edu 37 5 131647885 131647885 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 131647885 131647885 T G SNP SLC22A4 ENST00000200652 human ensembl 69_37n +1 known missense c.425 p.V142G 0.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A4 HGNC ENSG00000197208 90 0 0.00 75 19 20.00 - - - SLC22A6 0 genome.wustl.edu 37 11 62749365 62749365 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62749365 62749365 T G SNP SLC22A6 ENST00000377871 human ensembl 69_37n -1 known missense c.746 p.H249P 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 32 0 0.00 27 10 27.03 - - - SLC22A9 0 genome.wustl.edu 37 11 63137916 63137916 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 63137916 63137916 A C SNP SLC22A9 ENST00000279178 human ensembl 69_37n +1 known missense c.388 p.T130P 0.979 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC ENSG00000149742 182 1 0.54 155 19 10.92 - - - SLC24A2 0 genome.wustl.edu 37 9 19619603 19619603 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 19619603 19619603 T G SNP SLC24A2 ENST00000341998 human ensembl 69_37n -1 known missense c.1057 p.T353P 1.000 tigrfam_K-dep_Na/Ca-exchanger-like pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like - no_errors SLC24A2 HGNC ENSG00000155886 232 2 0.85 167 27 13.85 - - - SLC24A2 0 genome.wustl.edu 37 9 19786333 19786333 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 19786333 19786333 T G SNP SLC24A2 ENST00000341998 human ensembl 69_37n -1 known missense c.532 p.T178P 1.000 pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like - no_errors SLC24A2 HGNC ENSG00000155886 96 0 0.00 44 10 18.52 - - - SLC25A13 0 genome.wustl.edu 37 7 95820548 95820548 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 95820548 95820548 A C SNP SLC25A13 ENST00000416240 human ensembl 69_37n -1 known silent c.627 p.G209 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A13 HGNC ENSG00000004864 173 1 0.57 148 29 16.38 - - - SLC25A27 0 genome.wustl.edu 37 6 46630143 46630143 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 46630143 46630143 T G SNP SLC25A27 ENST00000371347 human ensembl 69_37n +1 known silent c.414 p.G138 1.000 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 - no_errors SLC25A27 HGNC ENSG00000153291 157 0 0.00 119 28 19.05 - - - SLC25A28 0 genome.wustl.edu 37 10 101370744 101370744 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 101370744 101370744 A C SNP SLC25A28 ENST00000370495 human ensembl 69_37n -1 known silent c.957 p.G319 0.999 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 - no_errors SLC25A28 HGNC ENSG00000155287 105 1 0.94 58 16 21.33 - - - SLC25A35 0 genome.wustl.edu 37 17 8194260 8194260 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 8194260 8194260 A C SNP SLC25A35 ENST00000577745 human ensembl 69_37n -1 known missense c.629 p.V210G 0.001 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 - no_errors SLC25A35 HGNC ENSG00000125434 112 0 0.00 63 23 26.44 - - - SLC25A36 0 genome.wustl.edu 37 3 140692582 140692582 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 140692582 140692582 T G SNP SLC25A36 ENST00000324194 human ensembl 69_37n +1 known silent c.477 p.G159 0.920 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_carrier,prints_Mit_uncoupling - no_errors SLC25A36 HGNC ENSG00000114120 84 0 0.00 67 20 22.99 - - - SLC25A5 0 genome.wustl.edu 37 X 118603762 118603762 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 118603762 118603762 A C SNP SLC25A5 ENST00000317881 human ensembl 69_37n +1 known missense c.250 p.T84P 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A5 HGNC ENSG00000005022 250 1 0.40 157 18 10.17 - - - SLC27A3 0 genome.wustl.edu 37 1 153751181 153751181 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 153751181 153751181 T G SNP SLC27A3 ENST00000368661 human ensembl 69_37n +1 known missense c.1607 p.V536G 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 40 0 0.00 58 10 14.71 - - - SLC27A3 0 genome.wustl.edu 37 1 153751591 153751591 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 153751591 153751591 T G SNP SLC27A3 ENST00000368661 human ensembl 69_37n +1 known missense c.1789 p.W597G 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 148 0 0.00 226 40 14.98 - - - SLC2A4 0 genome.wustl.edu 37 17 7189808 7189808 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7189808 7189808 A C SNP SLC2A4 ENST00000317370 human ensembl 69_37n +1 known missense c.1390 p.T464P 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_4,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A4 HGNC ENSG00000181856 384 3 0.77 140 21 12.88 - - - SLC35B2 0 genome.wustl.edu 37 6 44222399 44222399 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 44222399 44222399 T G SNP SLC35B2 ENST00000495706 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors SLC35B2 HGNC ENSG00000157593 120 1 0.81 55 17 23.29 - - - SLC35C2 0 genome.wustl.edu 37 20 44983861 44983861 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 44983861 44983861 A C SNP SLC35C2 ENST00000543605 human ensembl 69_37n -1 known missense c.515 p.V172G 1.000 pfam_UAA pfam_DUF250,pfam_UAA - no_errors SLC35C2 HGNC ENSG00000080189 51 0 0.00 40 9 17.31 - - - SLC35F1 0 genome.wustl.edu 37 6 118635359 118635359 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 118635359 118635359 A C SNP SLC35F1 ENST00000360388 human ensembl 69_37n +1 known missense c.1171 p.T391P 1.000 NULL pfam_DUF914_euk,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 148 1 0.67 131 34 20.36 - - - SLC35F3 0 genome.wustl.edu 37 1 234454587 234454587 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 234454587 234454587 A C SNP SLC35F3 ENST00000366618 human ensembl 69_37n +1 known missense c.1045 p.T349P 1.000 pfam_DUF914_euk pfam_DMT,pfam_DUF250,pfam_DUF914_euk - no_errors SLC35F3 HGNC ENSG00000183780 175 0 0.00 345 42 10.80 - - - SLC36A1 0 genome.wustl.edu 37 5 150856195 150856195 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 150856195 150856195 A C SNP SLC36A1 ENST00000522185 human ensembl 69_37n +1 known missense c.46 p.T16P 0.001 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SLC36A1 HGNC ENSG00000123643 192 1 0.52 171 22 11.40 - - - SLC36A1 0 genome.wustl.edu 37 5 150867632 150867632 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 150867632 150867632 A C SNP SLC36A1 ENST00000243389 human ensembl 69_37n +1 known silent c.1248 p.P416 0.232 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A1 HGNC ENSG00000123643 106 0 0.00 62 14 18.42 - - - SLC36A1 0 genome.wustl.edu 37 5 150867651 150867651 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 150867651 150867651 A C SNP SLC36A1 ENST00000243389 human ensembl 69_37n +1 known missense c.1267 p.T423P 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A1 HGNC ENSG00000123643 101 0 0.00 56 14 20.00 - - - SLC36A3 0 genome.wustl.edu 37 5 150656999 150656999 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 150656999 150656999 T G SNP SLC36A3 ENST00000377713 human ensembl 69_37n -1 known missense c.1491 p.Q497H 0.001 NULL pfam_AA_transpt_TM - no_errors SLC36A3 HGNC ENSG00000186334 233 2 0.85 244 42 14.69 - - - SLC38A1 0 genome.wustl.edu 37 12 46596829 46596829 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 46596829 46596829 T G SNP SLC38A1 ENST00000398637 human ensembl 69_37n -1 known missense c.866 p.H289P 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 184 1 0.54 109 35 24.31 - - - SLC38A1 0 genome.wustl.edu 37 12 46599916 46599916 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 46599916 46599916 A C SNP SLC38A1 ENST00000398637 human ensembl 69_37n -1 known missense c.593 p.V198G 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 142 0 0.00 89 17 16.04 - - - SLC38A7 0 genome.wustl.edu 37 16 58712654 58712654 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 58712654 58712654 T G SNP SLC38A7 ENST00000219320 human ensembl 69_37n -1 known missense c.415 p.T139P 1.000 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A7 HGNC ENSG00000103042 21 0 0.00 15 6 28.57 - - - SLC39A10 0 genome.wustl.edu 37 2 196578278 196578278 + Splice_Site SNP G G T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 196578278 196578278 G T SNP SLC39A10 ENST00000359634 human ensembl 69_37n +1 known splice_site c.1696+1 e5+1 1.000 - - - no_errors SLC39A10 HGNC ENSG00000196950 127 0 0.00 70 17 19.54 - - - SLC40A1 0 genome.wustl.edu 37 2 190439955 190439955 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 190439955 190439955 A C SNP SLC40A1 ENST00000261024 human ensembl 69_37n -1 known missense c.203 p.V68G 1.000 pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt - no_errors SLC40A1 HGNC ENSG00000138449 288 2 0.68 183 44 19.38 - - - SLC40A1 0 genome.wustl.edu 37 2 190439958 190439958 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 190439958 190439958 A C SNP SLC40A1 ENST00000261024 human ensembl 69_37n -1 known missense c.200 p.V67G 1.000 pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt - no_errors SLC40A1 HGNC ENSG00000138449 293 1 0.34 189 38 16.59 - - - SLC41A1 0 genome.wustl.edu 37 1 205760583 205760583 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 205760583 205760583 T G SNP SLC41A1 ENST00000468057 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SLC41A1 HGNC ENSG00000133065 31 0 0.00 33 24 42.11 - - - SLC4A7 0 genome.wustl.edu 37 3 27463212 27463212 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 27463212 27463212 A C SNP SLC4A7 ENST00000454389 human ensembl 69_37n -1 known missense c.1325 p.V442G 1.000 pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 177 0 0.00 125 19 13.19 - - - SLC4A8 0 genome.wustl.edu 37 12 51865301 51865301 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 51865301 51865301 A C SNP SLC4A8 ENST00000453097 human ensembl 69_37n +1 known missense c.1889 p.H630P 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 240 0 0.00 188 30 13.76 - - - SLC5A1 0 genome.wustl.edu 37 22 32480937 32480937 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 32480937 32480937 T G SNP SLC5A1 ENST00000266088 human ensembl 69_37n +1 known silent c.936 p.G312 0.114 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A1 HGNC ENSG00000100170 225 0 0.00 200 30 12.88 - - - SLC5A11 0 genome.wustl.edu 37 16 24920379 24920379 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 24920379 24920379 A C SNP SLC5A11 ENST00000347898 human ensembl 69_37n +1 known missense c.1612 p.T538P 0.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 45 0 0.00 48 11 18.64 - - - SLC5A12 0 genome.wustl.edu 37 11 26743254 26743254 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 26743254 26743254 A C SNP SLC5A12 ENST00000396005 human ensembl 69_37n -1 known missense c.8 p.V3G 1.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A12 HGNC ENSG00000148942 218 2 0.91 387 45 10.39 - - - SLC5A3 0 genome.wustl.edu 37 21 35467906 35467906 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 35467906 35467906 A C SNP SLC5A3 ENST00000381151 human ensembl 69_37n +1 known missense c.409 p.T137P 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A3 HGNC ENSG00000198743 267 0 0.00 170 24 12.37 - - - SLC5A8 0 genome.wustl.edu 37 12 101587555 101587555 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 101587555 101587555 A C SNP SLC5A8 ENST00000536262 human ensembl 69_37n -1 known silent c.540 p.G180 0.952 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC ENSG00000256870 162 1 0.61 148 27 15.43 - - - SLC5A9 0 genome.wustl.edu 37 1 48703472 48703472 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 48703472 48703472 A C SNP SLC5A9 ENST00000236495 human ensembl 69_37n +1 known missense c.1489 p.T497P 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 166 1 0.60 119 23 16.08 - - - SLC6A11 0 genome.wustl.edu 37 3 10861418 10861418 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 10861418 10861418 T G SNP SLC6A11 ENST00000254488 human ensembl 69_37n +1 known missense c.413 p.V138G 1.000 pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,prints_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3,pfscan_Na/ntran_symport - no_errors SLC6A11 HGNC ENSG00000132164 222 0 0.00 163 22 11.83 - - - SLC6A16 0 genome.wustl.edu 37 19 49797123 49797123 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 49797123 49797123 T G SNP SLC6A16 ENST00000335875 human ensembl 69_37n -1 known missense c.1579 p.T527P 0.851 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A16 HGNC ENSG00000063127 221 0 0.00 231 33 12.50 - - - SLC6A7 0 genome.wustl.edu 37 5 149580719 149580719 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 149580719 149580719 T C SNP SLC6A7 ENST00000230671 human ensembl 69_37n +1 known missense c.791 p.L264P 0.998 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 54 0 0.00 100 20 16.67 - - - SLC6A9 0 genome.wustl.edu 37 1 44468025 44468025 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 44468025 44468025 T G SNP SLC6A9 ENST00000360584 human ensembl 69_37n -1 known missense c.1141 p.T381P 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 56 0 0.00 31 8 20.00 - - - SLC7A1 0 genome.wustl.edu 37 13 30096464 30096464 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 30096464 30096464 A C SNP SLC7A1 ENST00000380752 human ensembl 69_37n -1 known silent c.1179 p.G393 0.818 pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 133 1 0.75 100 18 15.25 - - - SLC7A6 0 genome.wustl.edu 37 16 68308700 68308700 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 68308700 68308700 T G SNP SLC7A6 ENST00000219343 human ensembl 69_37n +1 known missense c.71 p.V24G 0.009 NULL pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A6 HGNC ENSG00000103064 87 0 0.00 43 12 21.43 - - - SLC7A6 0 genome.wustl.edu 37 16 68328637 68328637 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 68328637 68328637 A C SNP SLC7A6 ENST00000219343 human ensembl 69_37n +1 known missense c.1052 p.H351P 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A6 HGNC ENSG00000103064 188 1 0.53 148 23 13.37 - - - SLC8A3 0 genome.wustl.edu 37 14 70633782 70633782 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 70633782 70633782 A C SNP SLC8A3 ENST00000381269 human ensembl 69_37n -1 known missense c.1358 p.V453G 1.000 pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 306 2 0.65 219 39 15.06 - - - SLC9A2 0 genome.wustl.edu 37 2 103324778 103324778 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 103324778 103324778 A C SNP SLC9A2 ENST00000233969 human ensembl 69_37n +1 known missense c.2269 p.T757P 0.997 prints_Na/H_exchanger_2 pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 328 3 0.90 193 39 16.74 - - - SLC9A6 0 genome.wustl.edu 37 X 135098870 135098870 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135098870 135098870 A C SNP SLC9A6 ENST00000370695 human ensembl 69_37n +1 known missense c.1303 p.T435P 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 152 0 0.00 147 30 16.95 - - - SLCO1A2 0 genome.wustl.edu 37 12 21445269 21445269 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 21445269 21445269 A C SNP SLCO1A2 ENST00000307378 human ensembl 69_37n -1 known missense c.1439 p.V480G 0.996 pfam_OA_transporter,pfam_Kazal-type_dom,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 SLCO1A2 HGNC ENSG00000084453 157 0 0.00 97 22 18.49 - - - SLCO1B1 0 genome.wustl.edu 37 12 21358919 21358919 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 21358919 21358919 A C SNP SLCO1B1 ENST00000256958 human ensembl 69_37n +1 known silent c.1449 p.S483 0.986 pfam_OA_transporter,pfam_Kazal-type_dom,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 SLCO1B1 HGNC ENSG00000134538 278 2 0.71 215 63 22.66 - - - SLCO6A1 0 genome.wustl.edu 37 5 101795438 101795438 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 101795438 101795438 A C SNP SLCO6A1 ENST00000379807 human ensembl 69_37n -1 known missense c.943 p.W315G 0.997 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 198 2 1.00 179 36 16.74 - - - SLFN11 0 genome.wustl.edu 37 17 33679577 33679577 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 33679577 33679577 A C SNP SLFN11 ENST00000308377 human ensembl 69_37n -1 known missense c.2504 p.V835G 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN11 HGNC ENSG00000172716 238 1 0.42 211 48 18.46 - - - SLFN13 0 genome.wustl.edu 37 17 33767804 33767804 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 33767804 33767804 A C SNP SLFN13 ENST00000285013 human ensembl 69_37n -1 known missense c.2504 p.V835G 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN13 HGNC ENSG00000154760 257 0 0.00 232 30 11.41 - - - SLFNL1 0 genome.wustl.edu 37 1 41481890 41481890 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 41481890 41481890 A C SNP SLFNL1 ENST00000302946 human ensembl 69_37n -1 known missense c.1112 p.V371G 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFNL1 HGNC ENSG00000171790 103 1 0.96 66 15 18.52 - - - SLIT1 0 genome.wustl.edu 37 10 98923169 98923169 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 98923169 98923169 A C SNP SLIT1 ENST00000266058 human ensembl 69_37n -1 known silent c.309 p.G103 0.984 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EGF-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 329 1 0.30 251 38 13.15 - - - SLIT2 0 genome.wustl.edu 37 4 20598062 20598062 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 20598062 20598062 A C SNP SLIT2 ENST00000504154 human ensembl 69_37n +1 known silent c.3345 p.P1115 0.002 NULL pfam_EGF-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 159 0 0.00 156 36 18.65 - - - SLITRK2 0 genome.wustl.edu 37 X 144904958 144904958 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 144904958 144904958 A C SNP SLITRK2 ENST00000370490 human ensembl 69_37n +1 known missense c.1015 p.T339P 1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 119 0 0.00 66 16 19.28 - - - SLITRK5 0 genome.wustl.edu 37 13 88329391 88329391 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 88329391 88329391 T G SNP SLITRK5 ENST00000325089 human ensembl 69_37n +1 known missense c.1748 p.V583G 0.998 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 188 0 0.00 132 21 13.64 - - - SLK 0 genome.wustl.edu 37 10 105762853 105762853 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 105762853 105762853 T G SNP SLK ENST00000369755 human ensembl 69_37n +1 known silent c.1917 p.G639 0.016 superfamily_Kinase-like_dom pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_cat_dom - no_errors SLK HGNC ENSG00000065613 139 0 0.00 122 18 12.86 - - - SLPI 0 genome.wustl.edu 37 20 43881772 43881772 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 43881772 43881772 A C SNP SLPI ENST00000338380 human ensembl 69_37n -1 known missense c.265 p.C89G 0.532 pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core - no_errors SLPI HGNC ENSG00000124107 96 0 0.00 123 15 10.87 - - - SLTM 0 genome.wustl.edu 37 15 59175919 59175919 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 59175919 59175919 A C SNP SLTM ENST00000380516 human ensembl 69_37n -1 known missense c.2902 p.W968G 1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 161 1 0.61 131 24 15.29 - - - SMAD2 0 genome.wustl.edu 37 18 45423010 45423010 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 45423010 45423010 A C SNP SMAD2 ENST00000262160 human ensembl 69_37n -1 known missense c.118 p.W40G 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 107 1 0.93 92 20 17.86 - - - SMAD5 0 genome.wustl.edu 37 5 135496674 135496674 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 135496674 135496674 A C SNP SMAD5 ENST00000545279 human ensembl 69_37n +1 known missense c.533 p.H178P 1.000 NULL pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD5 HGNC ENSG00000113658 701 0 0.00 534 87 13.99 - - - SMAP1 0 genome.wustl.edu 37 6 71562340 71562340 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 71562340 71562340 A C SNP SMAP1 ENST00000370455 human ensembl 69_37n +1 known missense c.762 p.L254F 0.998 NULL pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,prints_ArfGAP,pfscan_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 282 1 0.35 177 37 17.29 - - - SMARCA5 0 genome.wustl.edu 37 4 144464812 144464812 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 144464812 144464812 T G SNP SMARCA5 ENST00000283131 human ensembl 69_37n +1 known splice_site c.2052+2 e15+2 1.000 - - - no_errors SMARCA5 HGNC ENSG00000153147 258 0 0.00 179 23 11.39 - - - SMARCC2 0 genome.wustl.edu 37 12 56565153 56565153 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 56565153 56565153 A C SNP SMARCC2 ENST00000267064 human ensembl 69_37n -1 known missense c.2156 p.V719G 1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 79 0 0.00 45 13 22.41 - - - SMC1B 0 genome.wustl.edu 37 22 45785696 45785696 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 45785696 45785696 T G SNP SMC1B ENST00000357450 human ensembl 69_37n -1 known missense c.1627 p.T543P 0.991 pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 158 0 0.00 137 17 11.04 - - - SMG1 0 genome.wustl.edu 37 16 18826947 18826947 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 18826947 18826947 A C SNP SMG1 ENST00000389467 human ensembl 69_37n -1 known silent c.10332 p.G3444 0.998 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 134 0 0.00 93 17 15.45 - - - SMG1 0 genome.wustl.edu 37 16 18844387 18844387 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 18844387 18844387 A C SNP SMG1 ENST00000389467 human ensembl 69_37n -1 known silent c.8667 p.G2889 0.563 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 274 0 0.00 200 37 15.55 - - - SMG6 0 genome.wustl.edu 37 17 1989103 1989103 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 1989103 1989103 A C SNP SMG6 ENST00000263073 human ensembl 69_37n -1 known silent c.3450 p.G1150 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC ENSG00000070366 200 2 0.99 192 42 17.87 - - - SMO 0 genome.wustl.edu 37 7 128846152 128846152 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 128846152 128846152 A C SNP SMO ENST00000249373 human ensembl 69_37n +1 known missense c.1082 p.H361P 1.000 pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 123 0 0.00 85 15 15.00 - - - SMOX 0 genome.wustl.edu 37 20 4162972 4162972 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 4162972 4162972 T G SNP SMOX ENST00000278795 human ensembl 69_37n +1 known splice_site c.844+2 e4+2 0.034 - - - no_errors SMOX HGNC ENSG00000088826 41 0 0.00 27 8 22.22 - - - SMR3A 0 genome.wustl.edu 37 4 71232636 71232636 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 71232636 71232636 A C SNP SMR3A ENST00000226460 human ensembl 69_37n +1 known missense c.330 p.R110S 0.000 NULL NULL - no_errors SMR3A HGNC ENSG00000109208 360 1 0.28 330 49 12.93 - - - SMR3A 0 genome.wustl.edu 37 4 71232645 71232645 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 71232645 71232645 A C SNP SMR3A ENST00000226460 human ensembl 69_37n +1 known silent c.339 p.P113 0.001 NULL NULL - no_errors SMR3A HGNC ENSG00000109208 337 2 0.58 282 64 18.39 - - - SMR3A 0 genome.wustl.edu 37 4 71232705 71232705 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 71232705 71232705 A C SNP SMR3A ENST00000226460 human ensembl 69_37n +1 known silent c.399 p.A133 0.014 NULL NULL - no_errors SMR3A HGNC ENSG00000109208 230 1 0.43 198 35 14.96 - - - SMYD2 0 genome.wustl.edu 37 1 214507378 214507378 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 214507378 214507378 T G SNP SMYD2 ENST00000491455 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SMYD2 HGNC ENSG00000143499 36 0 0.00 41 21 33.87 - - - SNCAIP 0 genome.wustl.edu 37 5 121787259 121787259 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 121787259 121787259 A C SNP SNCAIP ENST00000379533 human ensembl 69_37n +1 known missense c.2858 p.N953T 0.615 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 229 1 0.43 119 38 24.20 - - - SND1 0 genome.wustl.edu 37 7 127637937 127637937 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 127637937 127637937 A C SNP SND1 ENST00000467238 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SND1 HGNC ENSG00000197157 250 1 0.40 236 34 12.50 - - - SNHG14 0 genome.wustl.edu 37 15 25330338 25330338 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 25330338 25330338 T G SNP SNHG14 ENST00000383025 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors SNHG14 HGNC ENSG00000224078 51 0 0.00 38 9 19.15 - - - SNHG14 0 genome.wustl.edu 37 15 25432561 25432561 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 25432561 25432561 T G SNP SNHG14 ENST00000424208 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 25 0 0.00 35 13 27.08 - - - SNHG14 0 genome.wustl.edu 37 15 25434416 25434416 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 25434416 25434416 T G SNP SNHG14 ENST00000424208 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 33 0 0.00 37 8 17.78 - - - SNORA11 0 genome.wustl.edu 37 X 54840930 54840930 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 54840930 54840930 A C SNP SNORA11 ENST00000408789 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SNORA11 HGNC ENSG00000221716 232 2 0.85 243 32 11.64 - - - SNORD46 0 genome.wustl.edu 37 1 45242213 45242213 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 45242213 45242213 A C SNP SNORD46 ENST00000364043 human ensembl 69_37n +1 known rna NULL NULL 0.613 - - - no_errors SNORD46 HGNC ENSG00000200913 83 0 0.00 55 15 21.43 - - - SNRNP200 0 genome.wustl.edu 37 2 96968985 96968985 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 96968985 96968985 A C SNP SNRNP200 ENST00000323853 human ensembl 69_37n -1 known missense c.293 p.V98G 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 271 0 0.00 318 52 14.02 - - - SNTB2 0 genome.wustl.edu 37 16 69304156 69304156 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 69304156 69304156 A C SNP SNTB2 ENST00000336278 human ensembl 69_37n +1 known silent c.1116 p.S372 0.262 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB2 HGNC ENSG00000168807 133 0 0.00 102 25 19.69 - - - SNW1 0 genome.wustl.edu 37 14 78184742 78184742 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 78184742 78184742 A C SNP SNW1 ENST00000261531 human ensembl 69_37n -1 known silent c.1380 p.G460 0.905 NULL pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 323 0 0.00 181 25 12.08 - - - SNW1 0 genome.wustl.edu 37 14 78184850 78184850 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 78184850 78184850 A C SNP SNW1 ENST00000261531 human ensembl 69_37n -1 known silent c.1272 p.G424 0.844 NULL pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 214 2 0.93 100 28 21.88 - - - SNX19 0 genome.wustl.edu 37 11 130750654 130750654 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 130750654 130750654 A C SNP SNX19 ENST00000265909 human ensembl 69_37n -1 known missense c.2621 p.V874G 1.000 pfam_Sorting_nexin_C pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 279 1 0.35 168 38 18.45 - - - SNX19 0 genome.wustl.edu 37 11 130750684 130750684 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 130750684 130750684 A C SNP SNX19 ENST00000265909 human ensembl 69_37n -1 known missense c.2591 p.V864G 0.994 pfam_Sorting_nexin_C pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 287 0 0.00 164 29 14.87 - - - SNX19 0 genome.wustl.edu 37 11 130750690 130750690 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 130750690 130750690 A C SNP SNX19 ENST00000265909 human ensembl 69_37n -1 known missense c.2585 p.V862G 0.998 pfam_Sorting_nexin_C pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 282 0 0.00 157 29 15.34 - - - SNX19 0 genome.wustl.edu 37 11 130784186 130784186 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 130784186 130784186 T G SNP SNX19 ENST00000265909 human ensembl 69_37n -1 known missense c.1649 p.H550P 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 55 0 0.00 33 8 19.05 - - - SNX22 0 genome.wustl.edu 37 15 64446679 64446679 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 64446679 64446679 A C SNP SNX22 ENST00000325881 human ensembl 69_37n +1 known missense c.554 p.H185P 0.006 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX22 HGNC ENSG00000157734 123 0 0.00 52 14 21.21 - - - SOAT2 0 genome.wustl.edu 37 12 53499767 53499767 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 53499767 53499767 A C SNP SOAT2 ENST00000301466 human ensembl 69_37n +1 known missense c.412 p.T138P 1.000 NULL pfam_MBOAT_fam - no_errors SOAT2 HGNC ENSG00000167780 52 0 0.00 25 15 37.50 - - - SOHLH2 0 genome.wustl.edu 37 13 36744811 36744811 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 36744811 36744811 T G SNP SOHLH2 ENST00000554962 human ensembl 69_37n -1 known missense c.1345 p.T449P 0.001 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors SOHLH2 HGNC ENSG00000120669 197 1 0.51 142 25 14.97 - - - SORL1 0 genome.wustl.edu 37 11 121477606 121477606 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 121477606 121477606 T G SNP SORL1 ENST00000260197 human ensembl 69_37n +1 known silent c.5001 p.G1667 0.705 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC ENSG00000137642 216 2 0.92 124 27 17.76 - - - SORL1 0 genome.wustl.edu 37 11 121477640 121477640 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 121477640 121477640 A C SNP SORL1 ENST00000260197 human ensembl 69_37n +1 known missense c.5035 p.T1679P 0.508 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC ENSG00000137642 180 0 0.00 83 17 17.00 - - - SORT1 0 genome.wustl.edu 37 1 109878924 109878924 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 109878924 109878924 A C SNP SORT1 ENST00000256637 human ensembl 69_37n -1 known missense c.1309 p.W437G 1.000 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 120 0 0.00 124 21 14.38 - - - SOS1 0 genome.wustl.edu 37 2 39262410 39262410 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 39262410 39262410 T G SNP SOS1 ENST00000402219 human ensembl 69_37n -1 known missense c.1017 p.L339F 0.991 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 95 0 0.00 55 10 15.38 - - - SOX5 0 genome.wustl.edu 37 12 24048881 24048881 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 24048881 24048881 A C SNP SOX5 ENST00000451604 human ensembl 69_37n -1 known missense c.116 p.V39G 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX5 HGNC ENSG00000134532 288 1 0.34 186 22 10.38 - - - SOX7 0 genome.wustl.edu 37 8 10692268 10692268 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 10692268 10692268 A C SNP SOX7 ENST00000553390 human ensembl 69_37n -1 known missense c.37 p.W13G 1.000 NULL pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_superfamily - no_errors SOX7 HGNC ENSG00000171056 141 0 0.00 157 25 13.74 - - - SP1 0 genome.wustl.edu 37 12 53804902 53804902 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 53804902 53804902 A C SNP SP1 ENST00000327443 human ensembl 69_37n +1 known missense c.2236 p.T746P 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 145 1 0.68 147 23 13.37 - - - SP2 0 genome.wustl.edu 37 17 45993626 45993626 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 45993626 45993626 A C SNP SP2 ENST00000376741 human ensembl 69_37n +1 known silent c.189 p.T63 0.873 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 546 5 0.90 383 70 15.42 - - - SP2 0 genome.wustl.edu 37 17 45994011 45994011 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 45994011 45994011 A C SNP SP2 ENST00000376741 human ensembl 69_37n +1 known missense c.574 p.T192P 0.367 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 231 1 0.43 142 40 21.86 - - - SP2 0 genome.wustl.edu 37 17 45994052 45994052 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 45994052 45994052 T G SNP SP2 ENST00000376741 human ensembl 69_37n +1 known silent c.615 p.G205 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 245 1 0.40 147 21 12.50 - - - SP2 0 genome.wustl.edu 37 17 45994345 45994345 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 45994345 45994345 T G SNP SP2 ENST00000376741 human ensembl 69_37n +1 known missense c.908 p.V303G 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 129 0 0.00 89 13 12.75 - - - SP7 0 genome.wustl.edu 37 12 53722973 53722973 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 53722973 53722973 T G SNP SP7 ENST00000303846 human ensembl 69_37n -1 known missense c.253 p.T85P 0.982 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP7 HGNC ENSG00000170374 135 1 0.73 88 20 18.52 - - - SPAG16 0 genome.wustl.edu 37 2 214794711 214794711 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 214794711 214794711 T G SNP SPAG16 ENST00000331683 human ensembl 69_37n +1 known silent c.1242 p.G414 0.996 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 136 0 0.00 58 17 22.67 - - - SPAG9 0 genome.wustl.edu 37 17 49057223 49057223 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 49057223 49057223 A C SNP SPAG9 ENST00000262013 human ensembl 69_37n -1 known missense c.3293 p.V1098G 1.000 superfamily_WD40_repeat_dom pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 167 0 0.00 183 42 18.58 - - - SPARCL1 0 genome.wustl.edu 37 4 88415325 88415325 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 88415325 88415325 A C SNP SPARCL1 ENST00000282470 human ensembl 69_37n -1 known silent c.627 p.G209 0.000 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC ENSG00000152583 511 0 0.00 476 65 11.99 - - - SPATA16 0 genome.wustl.edu 37 3 172694806 172694806 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 172694806 172694806 A C SNP SPATA16 ENST00000351008 human ensembl 69_37n -1 known silent c.885 p.G295 0.212 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 221 1 0.45 205 30 12.77 - - - SPATA7 0 genome.wustl.edu 37 14 88892835 88892835 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 88892835 88892835 A C SNP SPATA7 ENST00000393545 human ensembl 69_37n +1 known missense c.632 p.H211P 0.010 NULL NULL - no_errors SPATA7 HGNC ENSG00000042317 157 0 0.00 90 18 16.67 - - - SPDYC 0 genome.wustl.edu 37 11 64940421 64940421 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 64940421 64940421 T G SNP SPDYC ENST00000377185 human ensembl 69_37n +1 known silent c.783 p.G261 0.000 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYC HGNC ENSG00000204710 113 1 0.88 93 18 16.07 - - - SPECC1L 0 genome.wustl.edu 37 22 24709376 24709376 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 24709376 24709376 A C SNP SPECC1L ENST00000314328 human ensembl 69_37n +1 known silent c.249 p.A83 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_DNA-bd,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 102 1 0.96 46 13 22.03 - - - SPECC1L 0 genome.wustl.edu 37 22 24761584 24761584 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 24761584 24761584 A C SNP SPECC1L ENST00000314328 human ensembl 69_37n +1 known missense c.2968 p.T990P 0.954 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_DNA-bd,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 132 0 0.00 124 18 12.68 - - - SPEF2 0 genome.wustl.edu 37 5 35800152 35800152 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 35800152 35800152 A C SNP SPEF2 ENST00000356031 human ensembl 69_37n +1 known missense c.4913 p.H1638P 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 349 2 0.57 291 39 11.75 - - - SPEN 0 genome.wustl.edu 37 1 16258785 16258785 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 16258785 16258785 T G SNP SPEN ENST00000375759 human ensembl 69_37n +1 known missense c.6050 p.V2017G 0.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 115 0 0.00 113 26 18.57 - - - SPEN 0 genome.wustl.edu 37 1 16260564 16260564 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 16260564 16260564 T G SNP SPEN ENST00000375759 human ensembl 69_37n +1 known missense c.7829 p.V2610G 0.737 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 275 2 0.72 250 35 12.15 - - - SPG11 0 genome.wustl.edu 37 15 44865780 44865780 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 44865780 44865780 A C SNP SPG11 ENST00000261866 human ensembl 69_37n -1 known missense c.6170 p.V2057G 1.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 54 0 0.00 45 13 22.03 - - - SPG20 0 genome.wustl.edu 37 13 36878665 36878665 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 36878665 36878665 A C SNP SPG20 ENST00000355182 human ensembl 69_37n -1 known missense c.1838 p.V613G 1.000 pfam_Senescence/spartin pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 407 3 0.73 303 34 10.03 - - - SPHKAP 0 genome.wustl.edu 37 2 228883176 228883176 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 228883176 228883176 A C SNP SPHKAP ENST00000392056 human ensembl 69_37n -1 known silent c.2394 p.G798 0.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 148 0 0.00 156 25 13.81 - - - SPIRE1 0 genome.wustl.edu 37 18 12506621 12506621 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 12506621 12506621 A C SNP SPIRE1 ENST00000409402 human ensembl 69_37n -1 known missense c.827 p.V276G 1.000 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 220 0 0.00 204 29 12.45 - - - SPNS1 0 genome.wustl.edu 37 16 28992840 28992840 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 28992840 28992840 T G SNP SPNS1 ENST00000311008 human ensembl 69_37n +1 known missense c.713 p.V238G 0.980 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC ENSG00000169682 53 0 0.00 37 5 11.63 - - - SPOPL 0 genome.wustl.edu 37 2 139326537 139326537 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 139326537 139326537 T G SNP SPOPL ENST00000280098 human ensembl 69_37n +1 known missense c.1066 p.W356G 1.000 NULL pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC ENSG00000144228 788 1 0.13 606 108 15.08 - - - SPRED2 0 genome.wustl.edu 37 2 65561834 65561834 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 65561834 65561834 A C SNP SPRED2 ENST00000356388 human ensembl 69_37n -1 known missense c.278 p.V93G 1.000 pfam_EVH1,smart_EVH1,pfscan_EVH1 pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors SPRED2 HGNC ENSG00000198369 177 0 0.00 120 23 16.08 - - - SPRY1 0 genome.wustl.edu 37 4 124323033 124323033 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 124323033 124323033 A C SNP SPRY1 ENST00000339241 human ensembl 69_37n +1 known missense c.287 p.H96P 1.000 NULL pfam_Sprouty - no_errors SPRY1 HGNC ENSG00000164056 133 0 0.00 108 20 15.62 - - - SPRY3 0 genome.wustl.edu 37 X 155003547 155003547 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 155003547 155003547 T G SNP SPRY3 ENST00000302805 human ensembl 69_37n +1 known missense c.14 p.V5G 0.256 NULL pfam_Sprouty - no_errors SPRY3 HGNC ENSG00000168939 409 4 0.97 390 61 13.50 - - - SPTA1 0 genome.wustl.edu 37 1 158615142 158615142 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 158615142 158615142 T G SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.4030 p.T1344P 0.860 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 132 1 0.75 259 42 13.91 - - - SPTA1 0 genome.wustl.edu 37 1 158653164 158653164 + Silent SNP C C T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 158653164 158653164 C T SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known silent c.387 p.T129 0.728 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 152 0 0.00 267 40 13.03 - - - SPTB 0 genome.wustl.edu 37 14 65253445 65253445 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 65253445 65253445 T G SNP SPTB ENST00000389722 human ensembl 69_37n -1 known missense c.3238 p.T1080P 0.875 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 34 0 0.00 23 6 20.69 - - - SPTB 0 genome.wustl.edu 37 14 65261209 65261209 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 65261209 65261209 T G SNP SPTB ENST00000389722 human ensembl 69_37n -1 known missense c.1771 p.T591P 0.991 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 125 1 0.79 92 20 17.86 - - - SPTLC2 0 genome.wustl.edu 37 14 78045343 78045343 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 78045343 78045343 A C SNP SPTLC2 ENST00000216484 human ensembl 69_37n -1 known missense c.437 p.V146G 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC2 HGNC ENSG00000100596 160 0 0.00 99 31 23.85 - - - SRCAP 0 genome.wustl.edu 37 16 30721028 30721028 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 30721028 30721028 A C SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known silent c.828 p.P276 0.999 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 152 1 0.65 133 39 22.54 - - - SRCAP 0 genome.wustl.edu 37 16 30736382 30736382 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 30736382 30736382 A C SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known silent c.5637 p.P1879 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 72 0 0.00 57 13 18.31 - - - SRCAP 0 genome.wustl.edu 37 16 30740467 30740467 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 30740467 30740467 A C SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known missense c.5839 p.T1947P 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 85 0 0.00 83 22 20.75 - - - SREBF2 0 genome.wustl.edu 37 22 42267007 42267007 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 42267007 42267007 A C SNP SREBF2 ENST00000361204 human ensembl 69_37n +1 known missense c.835 p.T279P 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors SREBF2 HGNC ENSG00000198911 104 1 0.95 84 33 28.21 - - - SRFBP1 0 genome.wustl.edu 37 5 121356235 121356235 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 121356235 121356235 T G SNP SRFBP1 ENST00000339397 human ensembl 69_37n +1 known missense c.805 p.F269V 1.000 NULL pfam_Bud-site_select_BUD22 - no_errors SRFBP1 HGNC ENSG00000151304 265 0 0.00 249 34 12.01 - - - SRGAP2 0 genome.wustl.edu 37 1 206628329 206628329 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 206628329 206628329 T G SNP SRGAP2 ENST00000419187 human ensembl 69_37n +1 known missense c.381 p.S127R 1.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_stop_codon SRGAP2 HGNC ENSG00000163486 95 0 0.00 177 23 11.44 - - - SRGAP3 0 genome.wustl.edu 37 3 9034599 9034599 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 9034599 9034599 A C SNP SRGAP3 ENST00000383836 human ensembl 69_37n -1 known missense c.2549 p.V850G 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 131 1 0.76 124 27 17.88 - - - SRI 0 genome.wustl.edu 37 7 87839422 87839422 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 87839422 87839422 A C SNP SRI ENST00000265729 human ensembl 69_37n -1 known silent c.273 p.G91 0.975 smart_EF_hand_Ca-bd smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors SRI HGNC ENSG00000075142 179 1 0.56 115 23 16.55 - - - SRP68 0 genome.wustl.edu 37 17 74035868 74035868 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 74035868 74035868 T G SNP SRP68 ENST00000307877 human ensembl 69_37n -1 known silent c.1803 p.P601 0.518 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 28 0 0.00 30 7 18.92 - - - SRPK2 0 genome.wustl.edu 37 7 104782602 104782602 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 104782602 104782602 T G SNP SRPK2 ENST00000393651 human ensembl 69_37n -1 known missense c.1396 p.T466P 0.984 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom 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 SRPK2 HGNC ENSG00000135250 310 0 0.00 283 40 12.35 - - - SRPK2 0 genome.wustl.edu 37 7 104783590 104783590 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 104783590 104783590 A C SNP SRPK2 ENST00000393651 human ensembl 69_37n -1 known missense c.1001 p.V334G 0.991 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom 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 SRPK2 HGNC ENSG00000135250 262 1 0.38 230 37 13.86 - - - SRR 0 genome.wustl.edu 37 17 2221269 2221269 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 2221269 2221269 A C SNP SRR ENST00000344595 human ensembl 69_37n +1 known missense c.274 p.T92P 0.957 pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu - no_errors SRR HGNC ENSG00000167720 210 1 0.47 193 31 13.78 - - - SRRM1 0 genome.wustl.edu 37 1 24993321 24993321 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 24993321 24993321 A C SNP SRRM1 ENST00000447431 human ensembl 69_37n +1 known missense c.1680 p.R560S 0.999 NULL pfam_PWI,superfamily_PWI,smart_PWI - no_errors SRRM1 HGNC ENSG00000133226 63 0 0.00 61 10 14.08 - - - SRRM2 0 genome.wustl.edu 37 16 2812584 2812584 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 2812584 2812584 A C SNP SRRM2 ENST00000301740 human ensembl 69_37n +1 known silent c.2055 p.T685 0.222 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 359 1 0.28 301 37 10.91 - - - SRRM2 0 genome.wustl.edu 37 16 2812962 2812962 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 2812962 2812962 A C SNP SRRM2 ENST00000301740 human ensembl 69_37n +1 known silent c.2433 p.P811 0.171 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 1105 9 0.80 908 167 15.52 - - - SRRM2 0 genome.wustl.edu 37 16 2813073 2813073 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 2813073 2813073 A C SNP SRRM2 ENST00000301740 human ensembl 69_37n +1 known silent c.2544 p.T848 0.997 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 753 6 0.79 576 101 14.85 - - - SRRM2 0 genome.wustl.edu 37 16 2813076 2813076 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 2813076 2813076 A C SNP SRRM2 ENST00000301740 human ensembl 69_37n +1 known silent c.2547 p.P849 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 761 3 0.39 584 84 12.44 - - - SRRM2 0 genome.wustl.edu 37 16 2813157 2813157 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 2813157 2813157 A C SNP SRRM2 ENST00000301740 human ensembl 69_37n +1 known silent c.2628 p.S876 0.007 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 495 1 0.20 350 72 16.98 - - - SRRM2 0 genome.wustl.edu 37 16 2814251 2814251 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 2814251 2814251 T G SNP SRRM2 ENST00000301740 human ensembl 69_37n +1 known missense c.3722 p.V1241G 0.960 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 537 2 0.37 351 67 15.91 - - - SRRM2 0 genome.wustl.edu 37 16 2816961 2816961 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 2816961 2816961 A C SNP SRRM2 ENST00000301740 human ensembl 69_37n +1 known silent c.6432 p.T2144 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 237 2 0.83 141 27 16.07 - - - SRSF5 0 genome.wustl.edu 37 14 70235393 70235393 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 70235393 70235393 T G SNP SRSF5 ENST00000451983 human ensembl 69_37n +1 known splice_site c.197+2 e2+2 0.231 - - - no_errors SRSF5 HGNC ENSG00000100650 99 0 0.00 58 15 20.55 - - - SS18 0 genome.wustl.edu 37 18 23618527 23618527 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 23618527 23618527 T G SNP SS18 ENST00000415083 human ensembl 69_37n -1 known missense c.872 p.Y291S 1.000 NULL pfam_SSXT - no_errors SS18 HGNC ENSG00000141380 293 0 0.00 153 26 14.53 - - - SSFA2 0 genome.wustl.edu 37 2 182780671 182780671 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 182780671 182780671 A C SNP SSFA2 ENST00000431877 human ensembl 69_37n +1 known silent c.2304 p.P768 0.992 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 273 1 0.36 302 42 12.17 - - - SSX5 0 genome.wustl.edu 37 X 48054501 48054501 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 48054501 48054501 A C SNP SSX5 ENST00000311798 human ensembl 69_37n -1 known missense c.134 p.V45G 0.000 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX5 HGNC ENSG00000165583 131 0 0.00 125 19 13.19 - - - ST5 0 genome.wustl.edu 37 11 8718180 8718180 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 8718180 8718180 A C SNP ST5 ENST00000313726 human ensembl 69_37n -1 known missense c.3086 p.V1029G 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 685 4 0.58 502 88 14.89 - - - ST6GALNAC1 0 genome.wustl.edu 37 17 74623528 74623528 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 74623528 74623528 T G SNP ST6GALNAC1 ENST00000156626 human ensembl 69_37n -1 known silent c.969 p.P323 0.200 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 106 1 0.93 62 18 22.50 - - - ST6GALNAC3 0 genome.wustl.edu 37 1 77093168 77093168 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 77093168 77093168 T G SNP ST6GALNAC3 ENST00000328299 human ensembl 69_37n +1 known missense c.655 p.W219G 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC ENSG00000184005 253 0 0.00 156 26 14.29 - - - STAB2 0 genome.wustl.edu 37 12 104054533 104054533 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 104054533 104054533 A C SNP STAB2 ENST00000388887 human ensembl 69_37n +1 known missense c.1861 p.T621P 0.031 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 140 0 0.00 104 25 19.38 - - - STAB2 0 genome.wustl.edu 37 12 104121095 104121095 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 104121095 104121095 A C SNP STAB2 ENST00000388887 human ensembl 69_37n +1 known silent c.4902 p.A1634 0.450 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 360 2 0.55 311 49 13.46 - - - STAT1 0 genome.wustl.edu 37 2 191844522 191844522 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 191844522 191844522 T G SNP STAT1 ENST00000361099 human ensembl 69_37n -1 known missense c.1703 p.H568P 1.000 superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 100 1 0.98 59 20 25.32 - - - STAT2 0 genome.wustl.edu 37 12 56744935 56744935 + Silent SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 56744935 56744935 A G SNP STAT2 ENST00000314128 human ensembl 69_37n -1 known silent c.981 p.T327 0.944 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 219 2 0.90 279 42 13.04 - - - STAT2 0 genome.wustl.edu 37 12 56745052 56745052 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 56745052 56745052 A C SNP STAT2 ENST00000557156 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors STAT2 HGNC ENSG00000170581 391 3 0.76 557 71 10.87 - - - STAT6 0 genome.wustl.edu 37 12 57492848 57492848 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 57492848 57492848 A C SNP STAT6 ENST00000300134 human ensembl 69_37n -1 known silent c.1905 p.G635 0.817 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 214 0 0.00 149 27 15.34 - - - STAU1 0 genome.wustl.edu 37 20 47782549 47782549 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 47782549 47782549 T G SNP STAU1 ENST00000371856 human ensembl 69_37n -1 known missense c.190 p.T64P 1.000 NULL pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors STAU1 HGNC ENSG00000124214 106 0 0.00 93 21 18.26 - - - STIM1 0 genome.wustl.edu 37 11 4112661 4112661 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 4112661 4112661 A C SNP STIM1 ENST00000300737 human ensembl 69_37n +1 known missense c.1691 p.H564P 0.998 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors STIM1 HGNC ENSG00000167323 78 0 0.00 132 30 18.29 - - - STK10 0 genome.wustl.edu 37 5 171520587 171520587 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 171520587 171520587 A C SNP STK10 ENST00000176763 human ensembl 69_37n -1 known silent c.1383 p.G461 0.000 NULL pfam_PKK,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 STK10 HGNC ENSG00000072786 82 0 0.00 90 22 19.47 - - - STK31 0 genome.wustl.edu 37 7 23826161 23826161 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 23826161 23826161 T G SNP STK31 ENST00000355870 human ensembl 69_37n +1 known missense c.2309 p.V770G 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom - no_errors STK31 HGNC ENSG00000196335 123 1 0.81 91 33 26.40 - - - STK38 0 genome.wustl.edu 37 6 36507921 36507921 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 36507921 36507921 A C SNP STK38 ENST00000229812 human ensembl 69_37n -1 known missense c.59 p.V20G 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors STK38 HGNC ENSG00000112079 256 0 0.00 191 23 10.75 - - - STK39 0 genome.wustl.edu 37 2 168986078 168986078 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 168986078 168986078 T G SNP STK39 ENST00000355999 human ensembl 69_37n -1 known silent c.1062 p.T354 0.998 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,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 STK39 HGNC ENSG00000198648 315 0 0.00 296 36 10.84 - - - STRN 0 genome.wustl.edu 37 2 37129880 37129880 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 37129880 37129880 A C SNP STRN ENST00000263918 human ensembl 69_37n -1 known missense c.506 p.V169G 1.000 pfam_Striatin_N pfam_Striatin_N,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 STRN HGNC ENSG00000115808 325 0 0.00 160 32 16.67 - - - STT3B 0 genome.wustl.edu 37 3 31667447 31667447 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 31667447 31667447 T G SNP STT3B ENST00000295770 human ensembl 69_37n +1 known missense c.1901 p.V634G 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 166 1 0.60 168 27 13.71 - - - STX19 0 genome.wustl.edu 37 3 93734016 93734016 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 93734016 93734016 A C SNP STX19 ENST00000315099 human ensembl 69_37n -1 known missense c.98 p.V33G 0.009 NULL pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX19 HGNC ENSG00000178750 156 0 0.00 170 25 12.82 - - - SUCO 0 genome.wustl.edu 37 1 172501640 172501640 + Missense_Mutation SNP C C G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 172501640 172501640 C G SNP SUCO ENST00000367723 human ensembl 69_37n +1 known missense c.28 p.L10V 0.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 52 0 0.00 81 11 11.96 - - - SUCO 0 genome.wustl.edu 37 1 172558233 172558233 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 172558233 172558233 A C SNP SUCO ENST00000367723 human ensembl 69_37n +1 known silent c.2448 p.P816 0.799 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 160 0 0.00 211 26 10.92 - - - SULT1C2 0 genome.wustl.edu 37 2 108910797 108910797 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 108910797 108910797 A C SNP SULT1C2 ENST00000442801 human ensembl 69_37n +1 known missense c.256 p.T86P 0.008 NULL pfam_Sulfotransferase_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SULT1C2 HGNC ENSG00000198203 231 0 0.00 217 49 18.28 - - - SUPT5H 0 genome.wustl.edu 37 19 39962019 39962019 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 39962019 39962019 T G SNP SUPT5H ENST00000359191 human ensembl 69_37n +1 known missense c.1700 p.V567G 1.000 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 135 1 0.74 89 16 15.24 - - - SUPT6H 0 genome.wustl.edu 37 17 27023950 27023950 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 27023950 27023950 T G SNP SUPT6H ENST00000314616 human ensembl 69_37n +1 known silent c.4059 p.G1353 0.998 pfam_SH2,smart_SH2,pirsf_TF_Spt6,pfscan_SH2 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 263 0 0.00 201 37 15.48 - - - SUSD4 0 genome.wustl.edu 37 1 223402709 223402709 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 223402709 223402709 A C SNP SUSD4 ENST00000343846 human ensembl 69_37n -1 known missense c.746 p.V249G 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 51 0 0.00 69 9 11.54 - - - SVEP1 0 genome.wustl.edu 37 9 113169375 113169375 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 113169375 113169375 T G SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known silent c.8505 p.S2835 0.983 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 128 0 0.00 114 28 19.58 - - - SVEP1 0 genome.wustl.edu 37 9 113194755 113194755 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 113194755 113194755 T G SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known silent c.5220 p.S1740 0.970 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 241 0 0.00 169 27 13.64 - - - SVEP1 0 genome.wustl.edu 37 9 113312207 113312207 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 113312207 113312207 T G SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known missense c.709 p.T237P 0.119 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 130 0 0.00 100 18 14.88 - - - SVIL 0 genome.wustl.edu 37 10 29819585 29819585 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 29819585 29819585 A C SNP SVIL ENST00000355867 human ensembl 69_37n -1 known missense c.2057 p.V686G 0.994 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors SVIL HGNC ENSG00000197321 125 0 0.00 145 27 15.61 - - - SYK 0 genome.wustl.edu 37 9 93636990 93636990 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 93636990 93636990 T G SNP SYK ENST00000375746 human ensembl 69_37n +1 known missense c.1040 p.V347G 1.000 superfamily_Kinase-like_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 176 1 0.56 156 31 16.58 - - - SYNDIG1 0 genome.wustl.edu 37 20 24646133 24646133 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 24646133 24646133 A C SNP SYNDIG1 ENST00000376862 human ensembl 69_37n +1 known missense c.770 p.H257P 1.000 NULL pfam_Interferon-induced_TM_protein - no_errors SYNDIG1 HGNC ENSG00000101463 115 0 0.00 57 18 23.68 - - - SYNE1 0 genome.wustl.edu 37 6 152497560 152497560 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 152497560 152497560 A C SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.23596 p.W7866G 1.000 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 338 1 0.29 277 38 12.06 - - - SYNE1 0 genome.wustl.edu 37 6 152688402 152688402 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 152688402 152688402 T G SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.9923 p.H3308P 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 154 1 0.65 122 21 14.69 - - - SYNE2 0 genome.wustl.edu 37 14 64408624 64408624 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 64408624 64408624 A C SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.259 p.T87P 0.987 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 182 1 0.55 113 20 15.04 - - - SYNE2 0 genome.wustl.edu 37 14 64449490 64449490 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 64449490 64449490 A C SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.1979 p.K660T 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 154 0 0.00 143 18 11.18 - - - SYNGAP1 0 genome.wustl.edu 37 6 33405770 33405770 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 33405770 33405770 A C SNP SYNGAP1 ENST00000418600 human ensembl 69_37n +1 known missense c.1088 p.Y363S 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 46 0 0.00 24 9 26.47 - - - SYNGAP1 0 genome.wustl.edu 37 6 33412300 33412300 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 33412300 33412300 A C SNP SYNGAP1 ENST00000418600 human ensembl 69_37n +1 known missense c.3488 p.H1163P 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 100 1 0.99 54 16 22.86 - - - SYNJ2 0 genome.wustl.edu 37 6 158507990 158507990 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 158507990 158507990 A C SNP SYNJ2 ENST00000355585 human ensembl 69_37n +1 known silent c.3312 p.P1104 1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 40 0 0.00 42 10 19.23 - - - SYNM 0 genome.wustl.edu 37 15 99672425 99672425 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 99672425 99672425 T G SNP SYNM ENST00000336292 human ensembl 69_37n +1 known missense c.3857 p.V1286G 0.000 NULL pfam_F - no_errors SYNM HGNC ENSG00000182253 120 0 0.00 125 23 15.23 - - - SYNPO 0 genome.wustl.edu 37 5 150028243 150028243 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 150028243 150028243 A C SNP SYNPO ENST00000394243 human ensembl 69_37n +1 known missense c.1138 p.T380P 0.479 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 393 3 0.75 277 48 14.63 - - - SYNPR 0 genome.wustl.edu 37 3 63542230 63542230 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 63542230 63542230 T G SNP SYNPR ENST00000478300 human ensembl 69_37n +1 known missense c.221 p.V74G 1.000 pfam_MARVEL-like_dom pfam_MARVEL-like_dom,prints_Synaptophysin/porin - no_errors SYNPR HGNC ENSG00000163630 70 0 0.00 46 13 22.03 - - - SYT11 0 genome.wustl.edu 37 1 155838008 155838008 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 155838008 155838008 T G SNP SYT11 ENST00000368324 human ensembl 69_37n +1 known missense c.287 p.V96G 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 156 0 0.00 282 45 13.55 - - - SYT4 0 genome.wustl.edu 37 18 40850381 40850381 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 40850381 40850381 A C SNP SYT4 ENST00000255224 human ensembl 69_37n -1 known silent c.1203 p.G401 0.987 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 397 0 0.00 221 41 15.59 - - - SYT4 0 genome.wustl.edu 37 18 40850402 40850402 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 40850402 40850402 A C SNP SYT4 ENST00000255224 human ensembl 69_37n -1 known silent c.1182 p.G394 0.997 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 355 1 0.28 213 42 16.47 - - - TAAR8 0 genome.wustl.edu 37 6 132874690 132874690 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 132874690 132874690 A C SNP TAAR8 ENST00000275200 human ensembl 69_37n +1 known missense c.859 p.T287P 0.718 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Trace_amine_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors TAAR8 HGNC ENSG00000146385 223 2 0.89 156 27 14.75 - - - TACC2 0 genome.wustl.edu 37 10 123954633 123954633 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 123954633 123954633 A C SNP TACC2 ENST00000334433 human ensembl 69_37n +1 known silent c.5913 p.P1971 0.720 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 71 0 0.00 54 18 25.00 - - - TACC2 0 genome.wustl.edu 37 10 123988980 123988980 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 123988980 123988980 A C SNP TACC2 ENST00000334433 human ensembl 69_37n +1 known silent c.8016 p.P2672 1.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 322 1 0.31 388 56 12.56 - - - TAF3 0 genome.wustl.edu 37 10 7866501 7866501 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 7866501 7866501 A C SNP TAF3 ENST00000344293 human ensembl 69_37n +1 known silent c.387 p.P129 0.997 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 228 0 0.00 184 28 13.08 - - - TAF6 0 genome.wustl.edu 37 7 99707890 99707890 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 99707890 99707890 A C SNP TAF6 ENST00000344095 human ensembl 69_37n -1 known missense c.1091 p.V364G 1.000 pfam_DUF1546,superfamily_ARM-type_fold pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 211 1 0.47 223 38 14.45 - - - TAF6L 0 genome.wustl.edu 37 11 62545602 62545602 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 62545602 62545602 T G SNP TAF6L ENST00000294168 human ensembl 69_37n +1 known splice_site c.385+2 e3+2 1.000 - - - no_errors TAF6L HGNC ENSG00000162227 33 0 0.00 30 4 11.11 - - - TAGAP 0 genome.wustl.edu 37 6 159457880 159457880 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 159457880 159457880 A C SNP TAGAP ENST00000367066 human ensembl 69_37n -1 known missense c.1175 p.V392G 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 82 0 0.00 42 16 27.12 - - - TAGLN3 0 genome.wustl.edu 37 3 111719760 111719760 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 111719760 111719760 A C SNP TAGLN3 ENST00000273368 human ensembl 69_37n +1 known missense c.322 p.T108P 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_SM22_calponin pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Transgelin - no_errors TAGLN3 HGNC ENSG00000144834 158 0 0.00 180 31 14.62 - - - TANC1 0 genome.wustl.edu 37 2 159954288 159954288 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 159954288 159954288 A C SNP TANC1 ENST00000263635 human ensembl 69_37n +1 known silent c.201 p.S67 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 507 5 0.97 366 114 23.70 - - - TANC1 0 genome.wustl.edu 37 2 160031465 160031465 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 160031465 160031465 T G SNP TANC1 ENST00000263635 human ensembl 69_37n +1 known missense c.1505 p.V502G 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 227 2 0.87 229 37 13.91 - - - TANC1 0 genome.wustl.edu 37 2 160035347 160035347 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 160035347 160035347 T G SNP TANC1 ENST00000263635 human ensembl 69_37n +1 known missense c.2183 p.V728G 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 186 1 0.53 144 22 13.25 - - - TANC1 0 genome.wustl.edu 37 2 160086359 160086359 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 160086359 160086359 T C SNP TANC1 ENST00000263635 human ensembl 69_37n +1 known silent c.4422 p.T1474 0.186 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 103 0 0.00 80 13 13.98 - - - TANC2 0 genome.wustl.edu 37 17 61417657 61417657 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 61417657 61417657 A G SNP TANC2 ENST00000424789 human ensembl 69_37n +1 known missense c.1549 p.R517G 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 210 0 0.00 177 35 16.43 - - - TANC2 0 genome.wustl.edu 37 17 61498464 61498464 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 61498464 61498464 T G SNP TANC2 ENST00000424789 human ensembl 69_37n +1 known silent c.5121 p.G1707 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 229 0 0.00 213 32 13.01 - - - TAOK2 0 genome.wustl.edu 37 16 29989483 29989483 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 29989483 29989483 T G SNP TAOK2 ENST00000308893 human ensembl 69_37n +1 known splice_site c.204+2 e2+2 0.998 - - - no_errors TAOK2 HGNC ENSG00000149930 244 2 0.81 193 35 15.35 - - - TAOK2 0 genome.wustl.edu 37 16 29989630 29989630 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 29989630 29989630 A C SNP TAOK2 ENST00000308893 human ensembl 69_37n +1 known missense c.262 p.T88P 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,pfscan_Prot_kinase_cat_dom 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 TAOK2 HGNC ENSG00000149930 306 0 0.00 242 33 11.91 - - - TAPBPL 0 genome.wustl.edu 37 12 6570214 6570214 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 6570214 6570214 A C SNP TAPBPL ENST00000544289 human ensembl 69_37n +1 putative rna NULL NULL 0.002 - - - no_errors TAPBPL HGNC ENSG00000139192 24 0 0.00 12 8 40.00 - - - TARS 0 genome.wustl.edu 37 5 33462213 33462213 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 33462213 33462213 T G SNP TARS ENST00000265112 human ensembl 69_37n +1 known silent c.1740 p.G580 0.998 pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa - no_errors TARS HGNC ENSG00000113407 170 1 0.58 112 29 20.42 - - - TAS2R3 0 genome.wustl.edu 37 7 141464259 141464259 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 141464259 141464259 A C SNP TAS2R3 ENST00000247879 human ensembl 69_37n +1 known missense c.301 p.T101P 0.627 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R3 HGNC ENSG00000127362 573 1 0.17 517 102 16.29 - - - TAS2R40 0 genome.wustl.edu 37 7 142919916 142919916 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 142919916 142919916 A C SNP TAS2R40 ENST00000408947 human ensembl 69_37n +1 known missense c.745 p.T249P 0.008 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R40 HGNC ENSG00000221937 344 0 0.00 226 50 17.99 - - - TAS2R46 0 genome.wustl.edu 37 12 11214070 11214070 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 11214070 11214070 T G SNP TAS2R46 ENST00000533467 human ensembl 69_37n -1 known missense c.824 p.H275P 0.033 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R46 HGNC ENSG00000226761 411 0 0.00 353 59 14.32 - - - TAS2R50 0 genome.wustl.edu 37 12 11139353 11139353 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 11139353 11139353 A C SNP TAS2R50 ENST00000506868 human ensembl 69_37n -1 known missense c.107 p.V36G 0.050 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R50 HGNC ENSG00000212126 293 0 0.00 197 45 18.52 - - - TASP1 0 genome.wustl.edu 37 20 13539704 13539704 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 13539704 13539704 A C SNP TASP1 ENST00000337743 human ensembl 69_37n -1 known missense c.626 p.V209G 1.000 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors TASP1 HGNC ENSG00000089123 146 0 0.00 129 34 20.73 - - - TATDN2 0 genome.wustl.edu 37 3 10312323 10312323 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 10312323 10312323 A C SNP TATDN2 ENST00000287652 human ensembl 69_37n +1 known missense c.1457 p.H486P 0.451 NULL pfam_TatD_superfamily - no_errors TATDN2 HGNC ENSG00000157014 116 0 0.00 145 29 16.57 - - - TAZ 0 genome.wustl.edu 37 X 153648473 153648473 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 153648473 153648473 T G SNP TAZ ENST00000369776 human ensembl 69_37n +1 putative missense c.479 p.V160G 0.109 NULL pfam_Acyltransferase,prints_Tafazzin - no_errors TAZ HGNC ENSG00000102125 135 1 0.73 184 35 15.98 - - - TBATA 0 genome.wustl.edu 37 10 72531120 72531120 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 72531120 72531120 T G SNP TBATA ENST00000394982 human ensembl 69_37n -1 known missense c.229 p.T77P 0.000 NULL NULL - no_start_codon TBATA HGNC ENSG00000166220 186 1 0.53 170 31 15.35 - - - TBATA 0 genome.wustl.edu 37 10 72538311 72538311 + Splice_Site SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 72538311 72538311 A C SNP TBATA ENST00000299290 human ensembl 69_37n -1 known splice_site c.507+2 e4+2 0.947 - - - no_errors TBATA HGNC ENSG00000166220 156 0 0.00 111 27 19.57 - - - TBC1D1 0 genome.wustl.edu 37 4 37903793 37903793 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 37903793 37903793 T G SNP TBC1D1 ENST00000261439 human ensembl 69_37n +1 known missense c.77 p.V26G 1.000 smart_PTyr_interaction_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 167 0 0.00 152 23 12.99 - - - TBC1D1 0 genome.wustl.edu 37 4 38104674 38104674 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 38104674 38104674 A C SNP TBC1D1 ENST00000261439 human ensembl 69_37n +1 known missense c.2453 p.H818P 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 321 0 0.00 326 37 10.14 - - - TBC1D15 0 genome.wustl.edu 37 12 72316975 72316975 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 72316975 72316975 A C SNP TBC1D15 ENST00000550746 human ensembl 69_37n +1 known silent c.2067 p.T689 1.000 NULL pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 225 0 0.00 164 20 10.81 - - - TBC1D2 0 genome.wustl.edu 37 9 100971376 100971376 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 100971376 100971376 T G SNP TBC1D2 ENST00000375066 human ensembl 69_37n -1 known missense c.1724 p.D575A 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 348 3 0.85 212 29 11.98 - - - TBC1D25 0 genome.wustl.edu 37 X 48419090 48419090 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 48419090 48419090 A C SNP TBC1D25 ENST00000376771 human ensembl 69_37n +1 known silent c.1794 p.P598 0.006 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 86 0 0.00 67 17 20.24 - - - TBC1D9 0 genome.wustl.edu 37 4 141578947 141578947 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 141578947 141578947 A C SNP TBC1D9 ENST00000442267 human ensembl 69_37n -1 known silent c.1941 p.G647 0.509 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 250 1 0.40 278 50 15.24 - - - TBX18 0 genome.wustl.edu 37 6 85446981 85446981 + Missense_Mutation SNP C C T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 85446981 85446981 C T SNP TBX18 ENST00000369663 human ensembl 69_37n -1 known missense c.1246 p.D416N 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 88 0 0.00 51 20 28.17 - - - TBX4 0 genome.wustl.edu 37 17 59557597 59557597 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 59557597 59557597 T C SNP TBX4 ENST00000393853 human ensembl 69_37n +1 known missense c.938 p.L313P 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 49 0 0.00 32 5 13.51 - - - TC2N 0 genome.wustl.edu 37 14 92251690 92251690 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 92251690 92251690 A C SNP TC2N ENST00000340892 human ensembl 69_37n -1 known missense c.1178 p.V393G 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors TC2N HGNC ENSG00000165929 377 0 0.00 258 32 10.96 - - - TCEAL2 0 genome.wustl.edu 37 X 101382108 101382108 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 101382108 101382108 T G SNP TCEAL2 ENST00000329035 human ensembl 69_37n +1 known silent c.306 p.G102 0.000 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL2 HGNC ENSG00000184905 283 2 0.70 152 45 22.50 - - - TCEAL3 0 genome.wustl.edu 37 X 102864206 102864206 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 102864206 102864206 T G SNP TCEAL3 ENST00000243286 human ensembl 69_37n +1 known missense c.214 p.S72A 0.015 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL3 HGNC ENSG00000196507 335 3 0.88 233 31 11.52 - - - TCEAL6 0 genome.wustl.edu 37 X 101396082 101396082 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 101396082 101396082 A C SNP TCEAL6 ENST00000372773 human ensembl 69_37n -1 known silent c.222 p.G74 0.000 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL6 HGNC ENSG00000204071 254 2 0.77 137 34 19.77 - - - TCEANC 0 genome.wustl.edu 37 X 13680713 13680713 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 13680713 13680713 A C SNP TCEANC ENST00000314720 human ensembl 69_37n +1 known missense c.176 p.H59P 0.989 pfam_TFIIS_N,superfamily_TFIIS_N,pirsf_TF_IIS-rel pfam_TFIIS_cen_dom,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFS2M,pirsf_TF_IIS-rel - no_errors TCEANC HGNC ENSG00000176896 146 0 0.00 189 24 11.27 - - - TCEB3CL 0 genome.wustl.edu 37 18 44549191 44549191 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 44549191 44549191 A C SNP TCEB3CL ENST00000451265 human ensembl 69_37n -1 known missense c.1108 p.W370G 0.000 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3CL HGNC ENSG00000234298 317 2 0.62 160 20 11.11 - - - TCEB3CL2 0 genome.wustl.edu 37 18 44543264 44543264 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 44543264 44543264 A C SNP TCEB3CL2 ENST00000591973 human ensembl 69_37n -1 known missense c.1108 p.W370G 0.000 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3CL2 HGNC ENSG00000266996 273 2 0.73 152 25 14.04 - - - TCERG1 0 genome.wustl.edu 37 5 145843228 145843228 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 145843228 145843228 A C SNP TCERG1 ENST00000296702 human ensembl 69_37n +1 known missense c.1007 p.H336P 0.998 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1 HGNC ENSG00000113649 253 1 0.39 195 45 18.67 - - - TCERG1 0 genome.wustl.edu 37 5 145843286 145843286 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 145843286 145843286 A C SNP TCERG1 ENST00000296702 human ensembl 69_37n +1 known silent c.1065 p.I355 1.000 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1 HGNC ENSG00000113649 286 1 0.35 198 24 10.81 - - - TCF12 0 genome.wustl.edu 37 15 57523418 57523418 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 57523418 57523418 A C SNP TCF12 ENST00000537840 human ensembl 69_37n +1 novel missense c.80 p.H27P 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TCF12 HGNC ENSG00000140262 187 0 0.00 176 22 11.11 - - - TCF20 0 genome.wustl.edu 37 22 42605810 42605810 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 42605810 42605810 A C SNP TCF20 ENST00000359486 human ensembl 69_37n -1 known silent c.5502 p.G1834 0.886 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 444 3 0.67 277 41 12.77 - - - TCF20 0 genome.wustl.edu 37 22 42607082 42607082 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 42607082 42607082 A C SNP TCF20 ENST00000359486 human ensembl 69_37n -1 known silent c.4230 p.G1410 0.777 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 301 1 0.33 142 25 14.97 - - - TCF20 0 genome.wustl.edu 37 22 42609386 42609386 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 42609386 42609386 A C SNP TCF20 ENST00000359486 human ensembl 69_37n -1 known silent c.1926 p.G642 0.033 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 243 2 0.82 116 23 16.55 - - - TCF20 0 genome.wustl.edu 37 22 42609449 42609449 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 42609449 42609449 A C SNP TCF20 ENST00000359486 human ensembl 69_37n -1 known silent c.1863 p.G621 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 232 0 0.00 115 24 17.27 - - - TCF20 0 genome.wustl.edu 37 22 42609495 42609495 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 42609495 42609495 A C SNP TCF20 ENST00000359486 human ensembl 69_37n -1 known missense c.1817 p.V606G 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 247 2 0.80 123 25 16.78 - - - TCL6 0 genome.wustl.edu 37 14 96128936 96128936 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 96128936 96128936 A C SNP TCL6 ENST00000459662 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors TCL6 HGNC ENSG00000187621 424 2 0.47 253 91 26.38 - - - TDP1 0 genome.wustl.edu 37 14 90509477 90509477 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 90509477 90509477 T G SNP TDP1 ENST00000335725 human ensembl 69_37n +1 known missense c.1817 p.V606G 1.000 NULL pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 47 0 0.00 47 9 16.07 - - - TDP2 0 genome.wustl.edu 37 6 24653380 24653380 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 24653380 24653380 A C SNP TDP2 ENST00000545995 human ensembl 69_37n -1 known missense c.728 p.V243G 0.877 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,superfamily_UBA-like - no_errors TDP2 HGNC ENSG00000111802 303 0 0.00 275 42 13.17 - - - TDRD3 0 genome.wustl.edu 37 13 61141757 61141757 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 61141757 61141757 A C SNP TDRD3 ENST00000535286 human ensembl 69_37n +1 known silent c.2217 p.P739 1.000 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 110 0 0.00 115 20 14.81 - - - TDRD7 0 genome.wustl.edu 37 9 100234614 100234614 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 100234614 100234614 T G SNP TDRD7 ENST00000355295 human ensembl 69_37n +1 known missense c.1781 p.V594G 0.998 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 233 0 0.00 139 28 16.67 - - - TEAD4 0 genome.wustl.edu 37 12 3147261 3147261 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 3147261 3147261 T G SNP TEAD4 ENST00000359864 human ensembl 69_37n +1 known missense c.1025 p.V342G 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 53 0 0.00 49 14 22.22 - - - TECTA 0 genome.wustl.edu 37 11 121016771 121016771 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 121016771 121016771 A C SNP TECTA ENST00000264037 human ensembl 69_37n +1 known missense c.4051 p.T1351P 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors TECTA HGNC ENSG00000109927 92 0 0.00 73 24 24.74 - - - TEK 0 genome.wustl.edu 37 9 27157842 27157842 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 27157842 27157842 T G SNP TEK ENST00000380036 human ensembl 69_37n +1 known silent c.66 p.G22 0.995 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 210 1 0.47 129 21 13.91 - - - TEKT1 0 genome.wustl.edu 37 17 6704180 6704180 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 6704180 6704180 A C SNP TEKT1 ENST00000338694 human ensembl 69_37n -1 known missense c.935 p.V312G 1.000 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 199 1 0.50 124 24 16.22 - - - TEKT5 0 genome.wustl.edu 37 16 10788505 10788505 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 10788505 10788505 T G SNP TEKT5 ENST00000283025 human ensembl 69_37n -1 known missense c.226 p.T76P 0.991 NULL pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 54 0 0.00 29 6 16.67 - - - TEP1 0 genome.wustl.edu 37 14 20874451 20874451 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 20874451 20874451 T G SNP TEP1 ENST00000262715 human ensembl 69_37n -1 known missense c.676 p.T226P 0.004 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 271 0 0.00 223 26 10.44 - - - TESK1 0 genome.wustl.edu 37 9 35607581 35607581 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 35607581 35607581 A G SNP TESK1 ENST00000336395 human ensembl 69_37n +1 known missense c.623 p.E208G 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,pfscan_Prot_kinase_cat_dom 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 82 0 0.00 44 18 29.03 - - - TESPA1 0 genome.wustl.edu 37 12 55357619 55357619 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 55357619 55357619 T G SNP TESPA1 ENST00000316577 human ensembl 69_37n -1 known missense c.562 p.T188P 0.980 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 255 2 0.78 151 43 22.05 - - - TESPA1 0 genome.wustl.edu 37 12 55357622 55357622 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 55357622 55357622 T G SNP TESPA1 ENST00000316577 human ensembl 69_37n -1 known missense c.559 p.T187P 0.999 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 254 2 0.78 160 39 19.60 - - - TEX13B 0 genome.wustl.edu 37 X 107224703 107224703 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 107224703 107224703 A C SNP TEX13B ENST00000302917 human ensembl 69_37n -1 known silent c.546 p.G182 0.000 NULL NULL - no_errors TEX13B HGNC ENSG00000170925 272 2 0.73 239 42 14.89 - - - TEX14 0 genome.wustl.edu 37 17 56663437 56663437 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 56663437 56663437 A C SNP TEX14 ENST00000240361 human ensembl 69_37n -1 known missense c.2813 p.V938G 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC ENSG00000121101 107 0 0.00 82 26 23.85 - - - TFAP2B 0 genome.wustl.edu 37 6 50808006 50808006 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 50808006 50808006 A C SNP TFAP2B ENST00000263046 human ensembl 69_37n +1 known missense c.1105 p.T369P 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 145 0 0.00 126 20 13.70 - - - TFE3 0 genome.wustl.edu 37 X 48887886 48887886 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 48887886 48887886 T G SNP TFE3 ENST00000315869 human ensembl 69_37n -1 known missense c.1511 p.H504P 1.000 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TFE3 HGNC ENSG00000068323 70 0 0.00 73 18 19.78 - - - TFIP11 0 genome.wustl.edu 37 22 26890269 26890269 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 26890269 26890269 A C SNP TFIP11 ENST00000405938 human ensembl 69_37n -1 known missense c.1994 p.V665G 1.000 pfam_GCFC_dom pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 118 1 0.84 71 24 25.26 - - - TGM1 0 genome.wustl.edu 37 14 24729843 24729843 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 24729843 24729843 A C SNP TGM1 ENST00000206765 human ensembl 69_37n -1 known missense c.570 p.S190R 0.333 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 45 0 0.00 26 9 25.71 - - - TGM1 0 genome.wustl.edu 37 14 24730919 24730919 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 24730919 24730919 T G SNP TGM1 ENST00000206765 human ensembl 69_37n -1 known missense c.490 p.T164P 0.117 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 62 0 0.00 30 7 18.42 - - - TGM5 0 genome.wustl.edu 37 15 43525842 43525842 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 43525842 43525842 A C SNP TGM5 ENST00000220420 human ensembl 69_37n -1 known missense c.1919 p.V640G 1.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 79 0 0.00 104 20 16.00 - - - TGM7 0 genome.wustl.edu 37 15 43574194 43574194 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 43574194 43574194 A C SNP TGM7 ENST00000452443 human ensembl 69_37n -1 known missense c.1199 p.V400G 1.000 NULL pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 41 0 0.00 38 8 17.39 - - - THAP9 0 genome.wustl.edu 37 4 83838855 83838855 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 83838855 83838855 A C SNP THAP9 ENST00000302236 human ensembl 69_37n +1 known missense c.1490 p.D497A 0.027 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 280 0 0.00 298 35 10.45 - - - THBS4 0 genome.wustl.edu 37 5 79368165 79368165 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 79368165 79368165 T G SNP THBS4 ENST00000350881 human ensembl 69_37n +1 known silent c.1785 p.G595 0.560 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 337 1 0.30 286 44 13.29 - - - THEMIS 0 genome.wustl.edu 37 6 128134916 128134916 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 128134916 128134916 T G SNP THEMIS ENST00000543064 human ensembl 69_37n -1 known silent c.870 p.A290 0.000 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 186 0 0.00 174 25 12.56 - - - THEMIS2 0 genome.wustl.edu 37 1 28209488 28209488 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 28209488 28209488 A C SNP THEMIS2 ENST00000456990 human ensembl 69_37n +1 known missense c.896 p.H299P 0.300 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region THEMIS2 HGNC ENSG00000130775 56 0 0.00 61 9 12.68 - - - THRA 0 genome.wustl.edu 37 17 38240887 38240887 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 38240887 38240887 T G SNP THRA ENST00000264637 human ensembl 69_37n +1 known missense c.395 p.V132G 1.000 prints_ThyrH_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 144 0 0.00 208 32 13.33 - - - THSD4 0 genome.wustl.edu 37 15 71952880 71952880 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 71952880 71952880 T G SNP THSD4 ENST00000261862 human ensembl 69_37n +1 known missense c.1164 p.C388W 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 THSD4 HGNC ENSG00000187720 229 2 0.87 224 35 13.51 - - - THYN1 0 genome.wustl.edu 37 11 134121159 134121159 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 134121159 134121159 A C SNP THYN1 ENST00000341541 human ensembl 69_37n -1 known silent c.87 p.G29 0.000 NULL pfam_EVE_domain,superfamily_PUA-like_domain - no_errors THYN1 HGNC ENSG00000151500 385 0 0.00 207 25 10.78 - - - TIA1 0 genome.wustl.edu 37 2 70444097 70444097 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 70444097 70444097 A C SNP TIA1 ENST00000433529 human ensembl 69_37n -1 known silent c.504 p.G168 0.999 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIA1 HGNC ENSG00000116001 149 1 0.67 99 22 18.18 - - - TIAL1 0 genome.wustl.edu 37 10 121336184 121336184 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 121336184 121336184 A C SNP TIAL1 ENST00000369093 human ensembl 69_37n -1 known missense c.991 p.W331G 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIAL1 HGNC ENSG00000151923 223 0 0.00 143 22 13.25 - - - TIAM1 0 genome.wustl.edu 37 21 32639149 32639149 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 32639149 32639149 A C SNP TIAM1 ENST00000286827 human ensembl 69_37n -1 known missense c.140 p.V47G 0.875 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 47 0 0.00 55 12 17.65 - - - TICRR 0 genome.wustl.edu 37 15 90167669 90167669 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 90167669 90167669 A C SNP TICRR ENST00000268138 human ensembl 69_37n +1 known silent c.4128 p.P1376 0.000 NULL NULL - no_errors TICRR HGNC ENSG00000140534 198 1 0.50 167 36 17.65 - - - TIE1 0 genome.wustl.edu 37 1 43783526 43783526 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 43783526 43783526 A C SNP TIE1 ENST00000473014 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TIE1 HGNC ENSG00000066056 217 1 0.46 155 27 14.84 - - - TIGD7 0 genome.wustl.edu 37 16 3350381 3350381 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 3350381 3350381 A C SNP TIGD7 ENST00000268674 human ensembl 69_37n -1 known silent c.234 p.G78 0.859 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 116 1 0.85 103 22 17.60 - - - TJP2 0 genome.wustl.edu 37 9 71866089 71866089 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 71866089 71866089 A C SNP TJP2 ENST00000539225 human ensembl 69_37n +1 known missense c.3223 p.T1075P 0.260 prints_ZonOcculS2 pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 271 2 0.73 184 29 13.55 - - - TLE1 0 genome.wustl.edu 37 9 84235381 84235381 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 84235381 84235381 A C SNP TLE1 ENST00000376499 human ensembl 69_37n -1 known missense c.686 p.V229G 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 145 0 0.00 111 19 14.39 - - - TLE4 0 genome.wustl.edu 37 9 82320815 82320815 + Nonstop_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 82320815 82320815 T G SNP TLE4 ENST00000496114 human ensembl 69_37n +1 novel nonstop c.112 p.*38G 0.604 NULL superfamily_WD40_repeat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TLE4 HGNC ENSG00000106829 354 0 0.00 264 32 10.81 - - - TLN2 0 genome.wustl.edu 37 15 63054582 63054582 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 63054582 63054582 A C SNP TLN2 ENST00000306829 human ensembl 69_37n +1 known missense c.4891 p.T1631P 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,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 TLN2 HGNC ENSG00000171914 415 4 0.95 354 43 10.83 - - - TLR8 0 genome.wustl.edu 37 X 12939336 12939336 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 12939336 12939336 A C SNP TLR8 ENST00000218032 human ensembl 69_37n +1 known missense c.2177 p.H726P 0.104 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 245 0 0.00 226 32 12.40 - - - TLR8 0 genome.wustl.edu 37 X 12939870 12939870 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 12939870 12939870 A C SNP TLR8 ENST00000218032 human ensembl 69_37n +1 known missense c.2711 p.H904P 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 202 0 0.00 198 26 11.61 - - - TM9SF1 0 genome.wustl.edu 37 14 24663986 24663986 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 24663986 24663986 A C SNP TM9SF1 ENST00000556387 human ensembl 69_37n -1 known silent c.867 p.G289 0.902 pfam_EMP70 pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC ENSG00000100926 455 2 0.44 362 45 10.98 - - - TM9SF3 0 genome.wustl.edu 37 10 98311131 98311131 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 98311131 98311131 A C SNP TM9SF3 ENST00000371142 human ensembl 69_37n -1 known missense c.830 p.V277G 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 388 0 0.00 280 75 20.95 - - - TMC1 0 genome.wustl.edu 37 9 75435971 75435971 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 75435971 75435971 A C SNP TMC1 ENST00000297784 human ensembl 69_37n +1 known silent c.1977 p.P659 0.102 NULL pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 206 0 0.00 176 31 14.90 - - - TMC7 0 genome.wustl.edu 37 16 19058514 19058514 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 19058514 19058514 A C SNP TMC7 ENST00000304381 human ensembl 69_37n +1 known silent c.1683 p.S561 0.027 pfam_TMC pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 330 2 0.60 276 70 20.17 - - - TMCC1 0 genome.wustl.edu 37 3 129389677 129389677 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 129389677 129389677 A C SNP TMCC1 ENST00000393238 human ensembl 69_37n -1 known missense c.1007 p.V336G 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 122 0 0.00 121 20 14.18 - - - TMED8 0 genome.wustl.edu 37 14 77809778 77809778 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 77809778 77809778 A C SNP TMED8 ENST00000216468 human ensembl 69_37n -1 known missense c.503 p.V168G 1.000 pfscan_GOLD superfamily_GOLD,pfscan_GOLD - no_errors TMED8 HGNC ENSG00000100580 149 0 0.00 138 25 15.24 - - - TMEM106A 0 genome.wustl.edu 37 17 41368538 41368538 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 41368538 41368538 A C SNP TMEM106A ENST00000331615 human ensembl 69_37n +1 known missense c.500 p.H167P 1.000 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106A HGNC ENSG00000184988 334 3 0.89 282 46 13.98 - - - TMEM108 0 genome.wustl.edu 37 3 133098934 133098934 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 133098934 133098934 T C SNP TMEM108 ENST00000321871 human ensembl 69_37n +1 known missense c.379 p.S127P 0.022 NULL NULL - no_errors TMEM108 HGNC ENSG00000144868 95 0 0.00 57 13 18.57 - - - TMEM132B 0 genome.wustl.edu 37 12 125834837 125834837 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 125834837 125834837 A C SNP TMEM132B ENST00000299308 human ensembl 69_37n +1 known missense c.892 p.T298P 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 226 1 0.44 198 33 14.29 - - - TMEM139 0 genome.wustl.edu 37 7 142983954 142983954 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 142983954 142983954 A C SNP TMEM139 ENST00000471161 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors TMEM139 HGNC ENSG00000178826 119 0 0.00 73 19 20.65 - - - TMEM168 0 genome.wustl.edu 37 7 112407761 112407761 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 112407761 112407761 A C SNP TMEM168 ENST00000312814 human ensembl 69_37n -1 known missense c.1585 p.W529G 1.000 NULL superfamily_ConA-like_lec_gl - no_errors TMEM168 HGNC ENSG00000146802 184 0 0.00 127 22 14.67 - - - TMEM177 0 genome.wustl.edu 37 2 120438632 120438632 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 120438632 120438632 T G SNP TMEM177 ENST00000272521 human ensembl 69_37n +1 known missense c.203 p.V68G 0.998 NULL NULL - no_errors TMEM177 HGNC ENSG00000144120 252 1 0.39 199 31 13.48 - - - TMEM184C 0 genome.wustl.edu 37 4 148555441 148555441 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 148555441 148555441 A C SNP TMEM184C ENST00000296582 human ensembl 69_37n +1 known silent c.1173 p.P391 0.922 NULL pfam_Ost-alpha - no_errors TMEM184C HGNC ENSG00000164168 258 1 0.39 222 27 10.84 - - - TMEM200A 0 genome.wustl.edu 37 6 130762567 130762567 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 130762567 130762567 A C SNP TMEM200A ENST00000296978 human ensembl 69_37n +1 known missense c.1000 p.T334P 0.000 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 201 0 0.00 198 27 12.00 - - - TMEM217 0 genome.wustl.edu 37 6 37186584 37186584 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 37186584 37186584 T G SNP TMEM217 ENST00000336655 human ensembl 69_37n -1 known missense c.223 p.T75P 0.944 NULL NULL - no_errors TMEM217 HGNC ENSG00000172738 394 0 0.00 307 54 14.84 - - - TMEM217 0 genome.wustl.edu 37 6 37186654 37186654 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 37186654 37186654 A C SNP TMEM217 ENST00000336655 human ensembl 69_37n -1 known silent c.153 p.G51 0.000 NULL NULL - no_errors TMEM217 HGNC ENSG00000172738 424 4 0.93 389 62 13.75 - - - TMEM35 0 genome.wustl.edu 37 X 100349755 100349755 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 100349755 100349755 A C SNP TMEM35 ENST00000372930 human ensembl 69_37n +1 known missense c.314 p.H105P 1.000 NULL NULL - no_errors TMEM35 HGNC ENSG00000126950 148 1 0.67 192 54 21.86 - - - TMEM50B 0 genome.wustl.edu 37 21 34837690 34837690 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 34837690 34837690 A C SNP TMEM50B ENST00000420455 human ensembl 69_37n -1 known missense c.239 p.V80G 1.000 pfam_UPF0220 pfam_UPF0220 - no_errors TMEM50B HGNC ENSG00000142188 89 0 0.00 56 16 21.92 - - - TMEM55B 0 genome.wustl.edu 37 14 20926740 20926740 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 20926740 20926740 T G SNP TMEM55B ENST00000398020 human ensembl 69_37n -1 known missense c.833 p.H278P 1.000 NULL pfam_Transmembrane_protein_55A/B - no_errors TMEM55B HGNC ENSG00000165782 56 0 0.00 19 17 47.22 - - - TMEM55B 0 genome.wustl.edu 37 14 20927382 20927382 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 20927382 20927382 T G SNP TMEM55B ENST00000398020 human ensembl 69_37n -1 known missense c.694 p.T232P 1.000 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55B HGNC ENSG00000165782 128 0 0.00 77 12 13.19 - - - TMEM63A 0 genome.wustl.edu 37 1 226034979 226034979 + RNA SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 226034979 226034979 T C SNP TMEM63A ENST00000496025 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors TMEM63A HGNC ENSG00000196187 26 0 0.00 19 7 25.00 - - - TMEM63A 0 genome.wustl.edu 37 1 226047009 226047009 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 226047009 226047009 A C SNP TMEM63A ENST00000366835 human ensembl 69_37n -1 known missense c.1264 p.W422G 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 46 0 0.00 53 9 14.52 - - - TMEM63A 0 genome.wustl.edu 37 1 226048591 226048591 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 226048591 226048591 T G SNP TMEM63A ENST00000366835 human ensembl 69_37n -1 known missense c.1192 p.T398P 0.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 135 1 0.72 174 28 13.66 - - - TMEM79 0 genome.wustl.edu 37 1 156255128 156255128 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 156255128 156255128 T G SNP TMEM79 ENST00000295694 human ensembl 69_37n +1 known silent c.111 p.G37 0.001 NULL NULL - no_errors TMEM79 HGNC ENSG00000163472 29 0 0.00 42 9 17.65 - - - TMEM81 0 genome.wustl.edu 37 1 205052791 205052791 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 205052791 205052791 A C SNP TMEM81 ENST00000367167 human ensembl 69_37n -1 known missense c.658 p.W220G 0.991 NULL pfscan_Ig-like - no_errors TMEM81 HGNC ENSG00000174529 170 0 0.00 257 30 10.45 - - - TMEM95 0 genome.wustl.edu 37 17 7259966 7259966 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7259966 7259966 T C SNP TMEM95 ENST00000389982 human ensembl 69_37n +1 known missense c.538 p.S180P 0.000 NULL NULL - no_errors TMEM95 HGNC ENSG00000182896 100 1 0.99 60 20 25.00 - - - TMF1 0 genome.wustl.edu 37 3 69084265 69084265 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 69084265 69084265 A C SNP TMF1 ENST00000543976 human ensembl 69_37n -1 known missense c.2162 p.V721G 1.000 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 117 0 0.00 129 32 19.75 - - - TMIGD2 0 genome.wustl.edu 37 19 4292609 4292609 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 4292609 4292609 A C SNP TMIGD2 ENST00000301272 human ensembl 69_37n -1 known missense c.836 p.V279G 0.000 NULL smart_Ig_sub,pfscan_Ig-like - no_errors TMIGD2 HGNC ENSG00000167664 26 0 0.00 28 12 30.00 - - - TMOD4 0 genome.wustl.edu 37 1 151143933 151143933 + Silent SNP C C T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 151143933 151143933 C T SNP TMOD4 ENST00000295314 human ensembl 69_37n -1 known silent c.702 p.T234 0.534 NULL pfam_Tropomodulin - no_errors TMOD4 HGNC ENSG00000163157 156 0 0.00 316 47 12.91 - - - TMPO 0 genome.wustl.edu 37 12 98927870 98927870 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 98927870 98927870 A C SNP TMPO ENST00000266732 human ensembl 69_37n +1 known missense c.1835 p.H612P 0.000 pfam_LAP2alpha pfam_LAP2alpha,pfam_Thymopoietin_LEM,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM,pfscan_Thymopoietin_LEM - no_errors TMPO HGNC ENSG00000120802 80 0 0.00 76 12 13.64 - - - TNC 0 genome.wustl.edu 37 9 117826954 117826954 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 117826954 117826954 T G SNP TNC ENST00000544972 human ensembl 69_37n -1 novel missense c.238 p.T80P 0.977 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TNC HGNC ENSG00000041982 327 1 0.30 265 33 11.07 - - - TNFSF4 0 genome.wustl.edu 37 1 173174624 173174624 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 173174624 173174624 A C SNP TNFSF4 ENST00000488053 human ensembl 69_37n -1 known rna NULL NULL 0.013 - - - no_errors TNFSF4 HGNC ENSG00000117586 69 0 0.00 85 28 24.56 - - - TNIP2 0 genome.wustl.edu 37 4 2749581 2749581 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 2749581 2749581 A C SNP TNIP2 ENST00000315423 human ensembl 69_37n -1 known missense c.368 p.V123G 0.021 NULL pfam_EABR - no_errors TNIP2 HGNC ENSG00000168884 53 0 0.00 33 4 10.53 - - - TNKS 0 genome.wustl.edu 37 8 9590797 9590797 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 9590797 9590797 T G SNP TNKS ENST00000310430 human ensembl 69_37n +1 known missense c.2156 p.V719G 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TNKS HGNC ENSG00000173273 110 0 0.00 72 21 22.34 - - - TNNI3 0 genome.wustl.edu 37 19 55665420 55665420 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 55665420 55665420 A C SNP TNNI3 ENST00000344887 human ensembl 69_37n -1 known missense c.527 p.V176G 1.000 pfam_Troponin pfam_Troponin,pfam_Troponin-I_N - no_errors TNNI3 HGNC ENSG00000129991 51 0 0.00 66 14 17.50 - - - TNRC6A 0 genome.wustl.edu 37 16 24788593 24788593 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 24788593 24788593 T G SNP TNRC6A ENST00000395799 human ensembl 69_37n +1 known missense c.503 p.V168G 0.999 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 339 0 0.00 260 37 12.46 - - - TNRC6A 0 genome.wustl.edu 37 16 24802373 24802373 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 24802373 24802373 T G SNP TNRC6A ENST00000395799 human ensembl 69_37n +1 known missense c.2410 p.W804G 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 76 0 0.00 90 17 15.89 - - - TNRC6A 0 genome.wustl.edu 37 16 24831605 24831605 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 24831605 24831605 A C SNP TNRC6A ENST00000395799 human ensembl 69_37n +1 known silent c.5226 p.P1742 0.979 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 135 0 0.00 113 37 24.34 - - - TNRC6B 0 genome.wustl.edu 37 22 40662548 40662548 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 40662548 40662548 T G SNP TNRC6B ENST00000454349 human ensembl 69_37n +1 known missense c.2314 p.W772G 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 154 1 0.64 99 37 27.21 - - - TNRC6B 0 genome.wustl.edu 37 22 40681696 40681696 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 40681696 40681696 T G SNP TNRC6B ENST00000446273 human ensembl 69_37n +1 putative missense c.2687 p.V896G 0.545 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TNRC6B HGNC ENSG00000100354 249 2 0.80 197 25 11.26 - - - TNRC6C 0 genome.wustl.edu 37 17 76063872 76063872 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 76063872 76063872 T G SNP TNRC6C ENST00000335749 human ensembl 69_37n +1 known silent c.2637 p.G879 1.000 pfam_Argonaute_hook_dom 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 93 0 0.00 95 19 16.67 - - - TNS4 0 genome.wustl.edu 37 17 38634869 38634869 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 38634869 38634869 T G SNP TNS4 ENST00000254051 human ensembl 69_37n -1 known missense c.1942 p.T648P 0.194 pfam_PTB,smart_PTyr_interaction_dom pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 71 0 0.00 72 15 17.24 - - - TNXB 0 genome.wustl.edu 37 6 32050067 32050067 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 32050067 32050067 T G SNP TNXB ENST00000375247 human ensembl 69_37n -1 known missense c.3482 p.H1161P 0.990 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 258 1 0.38 230 46 16.67 - - - TP53 0 genome.wustl.edu 37 17 7579429 7579429 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 7579429 7579429 T G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known silent c.258 p.A86 0.586 NULL 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 143 0 0.00 136 31 18.45 - - - TP53BP1 0 genome.wustl.edu 37 15 43708608 43708608 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 43708608 43708608 A C SNP TP53BP1 ENST00000382044 human ensembl 69_37n -1 known missense c.4688 p.V1563G 1.000 pfam_53-BP1_Tudor pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 128 0 0.00 161 28 14.74 - - - TP53I3 0 genome.wustl.edu 37 2 24302509 24302509 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 24302509 24302509 A C SNP TP53I3 ENST00000238721 human ensembl 69_37n -1 known silent c.621 p.G207 0.999 pfam_ADH_C,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3 pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3 - no_errors TP53I3 HGNC ENSG00000115129 149 1 0.67 108 25 18.80 - - - TPGS2 0 genome.wustl.edu 37 18 34378441 34378441 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 34378441 34378441 T G SNP TPGS2 ENST00000334295 human ensembl 69_37n -1 known missense c.628 p.T210P 1.000 NULL smart_Cell_wall_assmbl_KNR4-like - no_errors TPGS2 HGNC ENSG00000134779 225 2 0.88 166 23 12.04 - - - TPK1 0 genome.wustl.edu 37 7 144150700 144150700 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 144150700 144150700 A C SNP TPK1 ENST00000360057 human ensembl 69_37n -1 known missense c.670 p.S224A 0.994 pfam_Thiamin_PyroPKinase_B1-bd,superfamily_Thiamin_PyroPKinase_B1-bd,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase pfam_TPK_catalytic,pfam_Thiamin_PyroPKinase_B1-bd,superfamily_TPK_catalytic,superfamily_Thiamin_PyroPKinase_B1-bd,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase - no_errors TPK1 HGNC ENSG00000196511 224 1 0.44 118 20 14.39 - - - TPM3 0 genome.wustl.edu 37 1 154144709 154144709 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 154144709 154144709 A C SNP TPM3 ENST00000469717 human ensembl 69_37n -1 known rna NULL NULL 0.966 - - - no_errors TPM3 HGNC ENSG00000143549 174 1 0.57 309 35 10.06 - - - TPMT 0 genome.wustl.edu 37 6 18148104 18148104 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 18148104 18148104 A C SNP TPMT ENST00000309983 human ensembl 69_37n -1 known missense c.183 p.S61R 0.800 pfam_TPMT,pirsf_Thiopurine_S-MeTrfase pfam_TPMT,pirsf_Thiopurine_S-MeTrfase - no_errors TPMT HGNC ENSG00000137364 158 1 0.63 133 16 10.74 - - - TPTE 0 genome.wustl.edu 37 21 11029685 11029685 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 21 11029685 11029685 T G SNP TPTE ENST00000415664 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors TPTE HGNC ENSG00000166157 555 5 0.89 449 65 12.65 - - - TRAF3IP2 0 genome.wustl.edu 37 6 111913188 111913188 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 111913188 111913188 T G SNP TRAF3IP2 ENST00000340026 human ensembl 69_37n -1 known silent c.129 p.P43 0.362 NULL pfam_SEFIR - no_errors TRAF3IP2 HGNC ENSG00000056972 121 0 0.00 100 16 13.79 - - - TRAF3IP3 0 genome.wustl.edu 37 1 209954588 209954588 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 209954588 209954588 T G SNP TRAF3IP3 ENST00000467830 human ensembl 69_37n +1 known rna NULL NULL 0.009 - - - no_errors TRAF3IP3 HGNC ENSG00000009790 97 0 0.00 97 27 21.60 - - - TRAFD1 0 genome.wustl.edu 37 12 112589751 112589751 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 112589751 112589751 T G SNP TRAFD1 ENST00000257604 human ensembl 69_37n +1 known missense c.1426 p.C476G 0.152 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC ENSG00000135148 114 0 0.00 148 23 13.45 - - - TRAK2 0 genome.wustl.edu 37 2 202265799 202265799 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 202265799 202265799 A C SNP TRAK2 ENST00000332624 human ensembl 69_37n -1 known missense c.305 p.V102G 1.000 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 184 0 0.00 105 20 15.87 - - - TRAM1L1 0 genome.wustl.edu 37 4 118005583 118005583 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 118005583 118005583 A C SNP TRAM1L1 ENST00000310754 human ensembl 69_37n -1 known missense c.967 p.W323G 0.998 smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 242 0 0.00 164 26 13.68 - - - TRANK1 0 genome.wustl.edu 37 3 36872510 36872510 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 36872510 36872510 A C SNP TRANK1 ENST00000429976 human ensembl 69_37n -1 known missense c.8432 p.V2811G 0.998 NULL pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 435 3 0.68 265 39 12.79 - - - TRANK1 0 genome.wustl.edu 37 3 36898835 36898835 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 36898835 36898835 A C SNP TRANK1 ENST00000429976 human ensembl 69_37n -1 known missense c.2246 p.V749G 0.000 NULL pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 317 3 0.93 293 71 19.45 - - - TRBC2 0 genome.wustl.edu 37 7 142499639 142499639 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 142499639 142499639 A C SNP TRBC2 ENST00000466254 human ensembl 69_37n +1 known silent c.399 p.S133 0.947 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TRBC2 HGNC ENSG00000211772 626 6 0.95 572 99 14.69 - - - TRDMT1 0 genome.wustl.edu 37 10 17201166 17201166 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 17201166 17201166 T G SNP TRDMT1 ENST00000377799 human ensembl 69_37n -1 known missense c.522 p.L174F 0.006 pfam_C5_MeTfrase,tigrfam_C5_MeTfrase pfam_C5_MeTfrase,prints_C5_MeTfrase,tigrfam_C5_MeTfrase - no_errors TRDMT1 HGNC ENSG00000107614 130 0 0.00 73 16 17.98 - - - TRERF1 0 genome.wustl.edu 37 6 42196270 42196270 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 42196270 42196270 A C SNP TRERF1 ENST00000541110 human ensembl 69_37n -1 known missense c.3476 p.V1159G 0.134 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 222 2 0.89 237 30 11.24 - - - TRIB1 0 genome.wustl.edu 37 8 126445560 126445560 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 126445560 126445560 T G SNP TRIB1 ENST00000311922 human ensembl 69_37n +1 known missense c.362 p.V121G 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors TRIB1 HGNC ENSG00000173334 161 1 0.61 92 20 17.86 - - - TRIB2 0 genome.wustl.edu 37 2 12864848 12864848 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 12864848 12864848 T C SNP TRIB2 ENST00000405331 human ensembl 69_37n +1 putative silent c.657 p.P219 0.001 smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors TRIB2 HGNC ENSG00000071575 346 2 0.57 285 54 15.88 - - - TRIM10 0 genome.wustl.edu 37 6 30126399 30126399 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 30126399 30126399 A C SNP TRIM10 ENST00000449742 human ensembl 69_37n -1 known missense c.533 p.V178G 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM10 HGNC ENSG00000204613 385 1 0.26 301 62 17.03 - - - TRIM21 0 genome.wustl.edu 37 11 4411502 4411502 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 4411502 4411502 A C SNP TRIM21 ENST00000254436 human ensembl 69_37n -1 known silent c.138 p.G46 0.000 pfam_Znf_C3HC4_RING-type,smart_Ubox_domain,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 143 1 0.69 141 33 18.64 - - - TRIM25 0 genome.wustl.edu 37 17 54981830 54981830 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 54981830 54981830 A C SNP TRIM25 ENST00000316881 human ensembl 69_37n -1 known missense c.713 p.V238G 0.006 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors TRIM25 HGNC ENSG00000121060 189 0 0.00 244 57 18.57 - - - TRIM27 0 genome.wustl.edu 37 6 28872023 28872023 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 28872023 28872023 A C SNP TRIM27 ENST00000377199 human ensembl 69_37n -1 known missense c.1366 p.C456G 0.998 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 199 0 0.00 182 33 15.28 - - - TRIM34 0 genome.wustl.edu 37 11 5626721 5626721 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 5626721 5626721 A C SNP TRIM34 ENST00000337072 human ensembl 69_37n +1 known missense c.758 p.H253P 0.033 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM34 HGNC ENSG00000258659 138 1 0.72 216 27 11.11 - - - TRIM39 0 genome.wustl.edu 37 6 30297549 30297549 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 30297549 30297549 T G SNP TRIM39 ENST00000376656 human ensembl 69_37n +1 known splice_site c.453+2 e1+2 1.000 - - - no_errors TRIM39 HGNC ENSG00000204599 63 0 0.00 43 10 18.87 - - - TRIM4 0 genome.wustl.edu 37 7 99489881 99489881 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 99489881 99489881 T G SNP TRIM4 ENST00000355947 human ensembl 69_37n -1 known missense c.1408 p.T470P 0.958 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM4 HGNC ENSG00000146833 579 4 0.68 459 58 11.15 - - - TRIM4 0 genome.wustl.edu 37 7 99489980 99489980 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 99489980 99489980 T G SNP TRIM4 ENST00000355947 human ensembl 69_37n -1 known missense c.1309 p.T437P 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM4 HGNC ENSG00000146833 701 7 0.98 614 78 11.22 - - - TRIM4 0 genome.wustl.edu 37 7 99490102 99490102 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 99490102 99490102 A C SNP TRIM4 ENST00000355947 human ensembl 69_37n -1 known missense c.1187 p.V396G 0.997 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM4 HGNC ENSG00000146833 847 3 0.35 694 134 16.18 - - - TRIM4 0 genome.wustl.edu 37 7 99506245 99506245 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 99506245 99506245 A C SNP TRIM4 ENST00000355947 human ensembl 69_37n -1 known missense c.758 p.V253G 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM4 HGNC ENSG00000146833 316 0 0.00 456 60 11.56 - - - TRIM44 0 genome.wustl.edu 37 11 35706850 35706850 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 35706850 35706850 T G SNP TRIM44 ENST00000299413 human ensembl 69_37n +1 known missense c.713 p.V238G 1.000 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM44 HGNC ENSG00000166326 145 0 0.00 150 19 11.24 - - - TRIM46 0 genome.wustl.edu 37 1 155152140 155152140 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 155152140 155152140 A C SNP TRIM46 ENST00000334634 human ensembl 69_37n +1 known missense c.1318 p.T440P 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 26 0 0.00 42 15 26.32 - - - TRIM52 0 genome.wustl.edu 37 5 180687096 180687096 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 180687096 180687096 A C SNP TRIM52 ENST00000327767 human ensembl 69_37n -1 known missense c.719 p.V240G 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM52 HGNC ENSG00000183718 218 0 0.00 171 29 14.50 - - - TRIM52 0 genome.wustl.edu 37 5 180687271 180687271 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 180687271 180687271 T G SNP TRIM52 ENST00000327767 human ensembl 69_37n -1 known missense c.544 p.T182P 1.000 smart_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM52 HGNC ENSG00000183718 138 0 0.00 120 20 14.29 - - - TRIM58 0 genome.wustl.edu 37 1 248039402 248039402 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 248039402 248039402 T G SNP TRIM58 ENST00000366481 human ensembl 69_37n +1 known missense c.1072 p.W358G 0.981 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 287 1 0.35 521 93 15.10 - - - TRIM69 0 genome.wustl.edu 37 15 45047165 45047165 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 45047165 45047165 A C SNP TRIM69 ENST00000329464 human ensembl 69_37n +1 known missense c.74 p.H25P 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM69 HGNC ENSG00000185880 194 0 0.00 171 35 16.99 - - - TRIM69 0 genome.wustl.edu 37 15 45059866 45059866 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 45059866 45059866 A C SNP TRIM69 ENST00000329464 human ensembl 69_37n +1 known missense c.1399 p.T467P 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM69 HGNC ENSG00000185880 274 2 0.72 266 44 14.15 - - - TRIM7 0 genome.wustl.edu 37 5 180627053 180627053 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 180627053 180627053 A C SNP TRIM7 ENST00000274773 human ensembl 69_37n -1 known missense c.647 p.V216G 0.984 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,prints_Znf_B-box_chordata,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM7 HGNC ENSG00000146054 77 0 0.00 36 15 29.41 - - - TRIO 0 genome.wustl.edu 37 5 14504677 14504677 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 14504677 14504677 A C SNP TRIO ENST00000344204 human ensembl 69_37n +1 known missense c.8587 p.T2863P 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,pfscan_Prot_kinase_cat_dom pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 168 0 0.00 82 36 30.51 - - - TRIOBP 0 genome.wustl.edu 37 22 38121492 38121492 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 38121492 38121492 A C SNP TRIOBP ENST00000406386 human ensembl 69_37n +1 known missense c.2929 p.T977P 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 117 1 0.84 65 19 22.62 - - - TRIT1 0 genome.wustl.edu 37 1 40307387 40307387 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 40307387 40307387 A C SNP TRIT1 ENST00000462797 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors TRIT1 HGNC ENSG00000043514 275 1 0.36 257 33 11.34 - - - TROAP 0 genome.wustl.edu 37 12 49722997 49722997 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 49722997 49722997 A C SNP TROAP ENST00000257909 human ensembl 69_37n +1 known silent c.1074 p.T358 0.194 NULL NULL - no_errors TROAP HGNC ENSG00000135451 303 1 0.33 280 36 11.29 - - - TROAP 0 genome.wustl.edu 37 12 49724097 49724097 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 49724097 49724097 A C SNP TROAP ENST00000257909 human ensembl 69_37n +1 known missense c.1469 p.H490P 0.014 NULL NULL - no_errors TROAP HGNC ENSG00000135451 213 2 0.92 155 24 13.41 - - - TROAP 0 genome.wustl.edu 37 12 49724636 49724636 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 49724636 49724636 A C SNP TROAP ENST00000257909 human ensembl 69_37n +1 known missense c.2008 p.T670P 0.986 NULL NULL - no_errors TROAP HGNC ENSG00000135451 218 0 0.00 183 27 12.74 - - - TRPC5 0 genome.wustl.edu 37 X 111078256 111078256 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 111078256 111078256 T G SNP TRPC5 ENST00000262839 human ensembl 69_37n -1 known missense c.1789 p.T597P 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 495 0 0.00 475 64 11.87 - - - TRPM6 0 genome.wustl.edu 37 9 77377964 77377964 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 77377964 77377964 A C SNP TRPM6 ENST00000451710 human ensembl 69_37n -1 known missense c.3623 p.V1208G 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 215 1 0.46 136 19 12.18 - - - TRPM6 0 genome.wustl.edu 37 9 77427300 77427300 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 77427300 77427300 A C SNP TRPM6 ENST00000451710 human ensembl 69_37n -1 known missense c.1358 p.V453G 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 136 0 0.00 127 32 20.13 - - - TRPV2 0 genome.wustl.edu 37 17 16336927 16336927 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 16336927 16336927 T G SNP TRPV2 ENST00000338560 human ensembl 69_37n +1 known missense c.2029 p.W677G 1.000 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 60 0 0.00 54 13 19.40 - - - TRPV6 0 genome.wustl.edu 37 7 142575693 142575693 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 142575693 142575693 A C SNP TRPV6 ENST00000359396 human ensembl 69_37n -1 known missense c.215 p.V72G 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 121 0 0.00 127 19 12.93 - - - TRRAP 0 genome.wustl.edu 37 7 98554139 98554139 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 98554139 98554139 A C SNP TRRAP ENST00000359863 human ensembl 69_37n +1 known missense c.6193 p.T2065P 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 106 0 0.00 144 23 13.45 - - - TRRAP 0 genome.wustl.edu 37 7 98588155 98588155 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 98588155 98588155 A C SNP TRRAP ENST00000456197 human ensembl 69_37n +1 novel missense c.8813 p.H2938P 0.001 pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TRRAP HGNC ENSG00000196367 78 0 0.00 41 15 26.79 - - - TSC22D3 0 genome.wustl.edu 37 X 106957903 106957903 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 106957903 106957903 A C SNP TSC22D3 ENST00000315660 human ensembl 69_37n -1 known missense c.449 p.V150G 1.000 pfam_TSC-22_Dip_Bun pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC ENSG00000157514 249 1 0.40 155 20 11.36 - - - TSC22D3 0 genome.wustl.edu 37 X 106957972 106957972 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 106957972 106957972 A C SNP TSC22D3 ENST00000315660 human ensembl 69_37n -1 known missense c.380 p.V127G 1.000 pfam_TSC-22_Dip_Bun pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC ENSG00000157514 197 0 0.00 83 19 18.63 - - - TSHR 0 genome.wustl.edu 37 14 81609799 81609799 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 81609799 81609799 A C SNP TSHR ENST00000298171 human ensembl 69_37n +1 known missense c.1397 p.Y466S 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 230 0 0.00 160 27 14.29 - - - TSHZ3 0 genome.wustl.edu 37 19 31770007 31770007 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 31770007 31770007 A C SNP TSHZ3 ENST00000240587 human ensembl 69_37n -1 known missense c.692 p.V231G 1.000 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 231 2 0.85 234 38 13.87 - - - TSN 0 genome.wustl.edu 37 2 122522770 122522770 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 122522770 122522770 A C SNP TSN ENST00000389682 human ensembl 69_37n +1 known missense c.514 p.T172P 1.000 pfam_Translin,superfamily_Translin pfam_Translin,superfamily_Translin - no_errors TSN HGNC ENSG00000211460 301 2 0.66 343 48 12.28 - - - TSPAN14 0 genome.wustl.edu 37 10 82267071 82267071 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 82267071 82267071 A C SNP TSPAN14 ENST00000372156 human ensembl 69_37n +1 known missense c.220 p.T74P 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN14 HGNC ENSG00000108219 89 0 0.00 86 20 18.87 - - - TSPAN14 0 genome.wustl.edu 37 10 82280511 82280511 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 82280511 82280511 A C SNP TSPAN14 ENST00000372160 human ensembl 69_37n +1 known silent c.357 p.P119 0.000 NULL NULL - no_errors TSPAN14 HGNC ENSG00000108219 332 3 0.89 236 80 25.24 - - - TSPAN14 0 genome.wustl.edu 37 10 82280515 82280515 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 82280515 82280515 A C SNP TSPAN14 ENST00000372160 human ensembl 69_37n +1 known missense c.361 p.T121P 0.000 NULL NULL - no_errors TSPAN14 HGNC ENSG00000108219 332 2 0.59 258 55 17.46 - - - TSPAN14 0 genome.wustl.edu 37 10 82280584 82280584 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 82280584 82280584 A C SNP TSPAN14 ENST00000372160 human ensembl 69_37n +1 known missense c.430 p.T144P 0.000 NULL NULL - no_errors TSPAN14 HGNC ENSG00000108219 225 2 0.88 145 35 19.23 - - - TSPAN8 0 genome.wustl.edu 37 12 71533563 71533563 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 71533563 71533563 A C SNP TSPAN8 ENST00000247829 human ensembl 69_37n -1 known silent c.189 p.G63 0.056 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN8 HGNC ENSG00000127324 364 0 0.00 229 32 12.17 - - - TSPYL5 0 genome.wustl.edu 37 8 98289111 98289111 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 98289111 98289111 A C SNP TSPYL5 ENST00000322128 human ensembl 69_37n -1 known missense c.962 p.V321G 1.000 pfam_NAP_family pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 159 1 0.62 138 23 14.29 - - - TTBK1 0 genome.wustl.edu 37 6 43250493 43250493 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 43250493 43250493 T G SNP TTBK1 ENST00000259750 human ensembl 69_37n +1 known missense c.2015 p.V672G 1.000 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 - no_errors TTBK1 HGNC ENSG00000146216 188 0 0.00 90 19 17.43 - - - TTBK2 0 genome.wustl.edu 37 15 43164939 43164939 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 43164939 43164939 A C SNP TTBK2 ENST00000267890 human ensembl 69_37n -1 known silent c.87 p.G29 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,pfscan_Prot_kinase_cat_dom 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 TTBK2 HGNC ENSG00000128881 352 2 0.56 218 40 15.50 - - - TTC12 0 genome.wustl.edu 37 11 113230091 113230091 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 113230091 113230091 T G SNP TTC12 ENST00000314756 human ensembl 69_37n +1 known missense c.1453 p.C485G 0.985 superfamily_ARM-type_fold pfam_TPR-1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC12 HGNC ENSG00000149292 179 1 0.55 142 36 20.22 - - - TTC17 0 genome.wustl.edu 37 11 43427132 43427132 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 43427132 43427132 T G SNP TTC17 ENST00000039989 human ensembl 69_37n +1 known silent c.1548 p.G516 0.897 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 263 1 0.38 251 31 10.92 - - - TTC39B 0 genome.wustl.edu 37 9 15211274 15211274 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 15211274 15211274 T G SNP TTC39B ENST00000512701 human ensembl 69_37n -1 known missense c.604 p.T202P 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 122 1 0.81 64 18 21.69 - - - TTC8 0 genome.wustl.edu 37 14 89319366 89319366 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 89319366 89319366 T G SNP TTC8 ENST00000338104 human ensembl 69_37n +1 known missense c.724 p.W242G 1.000 smart_TPR_repeat pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC ENSG00000165533 163 0 0.00 101 21 17.21 - - - TTF1 0 genome.wustl.edu 37 9 135266116 135266116 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 135266116 135266116 A C SNP TTF1 ENST00000334270 human ensembl 69_37n -1 known missense c.2090 p.V697G 0.030 superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 221 0 0.00 126 25 16.45 - - - TTF1 0 genome.wustl.edu 37 9 135277313 135277313 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 135277313 135277313 A C SNP TTF1 ENST00000334270 human ensembl 69_37n -1 known missense c.896 p.V299G 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 404 2 0.49 421 50 10.57 - - - TTI2 0 genome.wustl.edu 37 8 33360981 33360981 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 33360981 33360981 T G SNP TTI2 ENST00000360742 human ensembl 69_37n -1 known missense c.1225 p.T409P 1.000 superfamily_ARM-type_fold pfam_DUF2454,superfamily_ARM-type_fold - no_errors TTI2 HGNC ENSG00000129696 103 1 0.96 102 17 14.17 - - - TTLL1 0 genome.wustl.edu 37 22 43435887 43435887 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 43435887 43435887 A C SNP TTLL1 ENST00000266254 human ensembl 69_37n -1 known silent c.1167 p.G389 0.072 NULL pfam_Tub_tyr_ligase - no_errors TTLL1 HGNC ENSG00000100271 106 0 0.00 72 20 21.28 - - - TTLL11 0 genome.wustl.edu 37 9 124752039 124752039 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 124752039 124752039 A C SNP TTLL11 ENST00000321582 human ensembl 69_37n -1 known missense c.974 p.V325G 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL11 HGNC ENSG00000175764 202 1 0.49 126 23 15.33 - - - TTLL2 0 genome.wustl.edu 37 6 167754656 167754656 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 167754656 167754656 A G SNP TTLL2 ENST00000239587 human ensembl 69_37n +1 known missense c.1268 p.E423G 0.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL2 HGNC ENSG00000120440 175 0 0.00 238 27 10.19 - - - TTLL4 0 genome.wustl.edu 37 2 219619068 219619068 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 219619068 219619068 A C SNP TTLL4 ENST00000258398 human ensembl 69_37n +1 known missense c.3556 p.T1186P 0.001 NULL pfam_Tub_tyr_ligase - no_errors TTLL4 HGNC ENSG00000135912 123 1 0.81 110 18 13.74 - - - TTLL5 0 genome.wustl.edu 37 14 76201591 76201591 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 76201591 76201591 A C SNP TTLL5 ENST00000298832 human ensembl 69_37n +1 known missense c.1240 p.T414P 1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL5 HGNC ENSG00000119685 275 1 0.36 154 27 14.92 - - - TTN 0 genome.wustl.edu 37 2 179411885 179411885 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179411885 179411885 A C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.86663 p.V28888G 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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 359 3 0.83 223 31 12.20 - - - TTN 0 genome.wustl.edu 37 2 179431755 179431755 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179431755 179431755 A C SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.71400 p.G23800 0.855 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 226 0 0.00 163 27 14.14 - - - TTN 0 genome.wustl.edu 37 2 179440254 179440254 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179440254 179440254 T G SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.62901 p.P20967 1.000 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 174 1 0.57 173 22 11.28 - - - TTN 0 genome.wustl.edu 37 2 179466035 179466035 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179466035 179466035 T G SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.47985 p.P15995 0.246 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,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 138 0 0.00 114 18 13.53 - - - TTN 0 genome.wustl.edu 37 2 179474570 179474570 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179474570 179474570 A C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.43876 p.W14626G 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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 635 2 0.31 460 75 14.02 - - - TTN 0 genome.wustl.edu 37 2 179474580 179474580 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179474580 179474580 A C SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.43866 p.G14622 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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 610 1 0.16 431 70 13.97 - - - TTN 0 genome.wustl.edu 37 2 179489290 179489290 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179489290 179489290 A C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.37013 p.V12338G 1.000 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 124 0 0.00 82 21 20.39 - - - TTN 0 genome.wustl.edu 37 2 179489359 179489359 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179489359 179489359 A C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.36944 p.V12315G 1.000 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 111 0 0.00 76 16 17.39 - - - TTN 0 genome.wustl.edu 37 2 179526496 179526496 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179526496 179526496 T G SNP TTN ENST00000589042 human ensembl 69_37n -1 putative silent c.37275 p.P12425 0.049 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,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 105 0 0.00 124 19 13.19 - - - TTN 0 genome.wustl.edu 37 2 179528556 179528556 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179528556 179528556 T G SNP TTN ENST00000425332 human ensembl 69_37n -1 novel missense c.629 p.H210P 0.654 NULL pfam_PPAK_motif - no_start_codon:pseudogene:no_stop_codon TTN HGNC ENSG00000155657 579 1 0.17 421 53 11.13 - - - TTN 0 genome.wustl.edu 37 2 179575595 179575595 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179575595 179575595 A C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.24497 p.V8166G 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 121 1 0.82 73 15 17.05 - - - TTN 0 genome.wustl.edu 37 2 179594285 179594285 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179594285 179594285 T G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.14866 p.T4956P 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like 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 217 2 0.91 158 23 12.64 - - - TTN 0 genome.wustl.edu 37 2 179604686 179604686 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179604686 179604686 A C SNP TTN ENST00000342175 human ensembl 69_37n -1 known missense c.12761 p.V4254G 0.998 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 210 1 0.47 119 41 25.31 - - - TTN 0 genome.wustl.edu 37 2 179612157 179612157 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179612157 179612157 T G SNP TTN ENST00000360870 human ensembl 69_37n -1 known silent c.14970 p.P4990 0.994 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 248 0 0.00 153 21 11.93 - - - TTN 0 genome.wustl.edu 37 2 179640834 179640834 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179640834 179640834 A C SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.5757 p.G1919 0.978 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 335 1 0.30 266 36 11.92 - - - TTN 0 genome.wustl.edu 37 2 179641000 179641000 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179641000 179641000 A C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.5591 p.V1864G 0.998 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 301 1 0.33 206 31 13.08 - - - TTN 0 genome.wustl.edu 37 2 179641101 179641101 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179641101 179641101 A C SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.5490 p.G1830 0.985 superfamily_RNaseH-like_dom 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 249 1 0.40 181 25 12.08 - - - TTN 0 genome.wustl.edu 37 2 179641113 179641113 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 179641113 179641113 A C SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.5478 p.G1826 0.993 superfamily_RNaseH-like_dom 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 251 1 0.40 191 28 12.79 - - - TUBB1 0 genome.wustl.edu 37 20 57598838 57598838 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 57598838 57598838 T G SNP TUBB1 ENST00000217133 human ensembl 69_37n +1 known missense c.356 p.V119G 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB1 HGNC ENSG00000101162 147 0 0.00 122 28 18.67 - - - TUBB1 0 genome.wustl.edu 37 20 57599139 57599139 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 57599139 57599139 A C SNP TUBB1 ENST00000217133 human ensembl 69_37n +1 known silent c.657 p.T219 0.940 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB1 HGNC ENSG00000101162 156 1 0.64 151 30 16.57 - - - TUFT1 0 genome.wustl.edu 37 1 151534602 151534602 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 151534602 151534602 T G SNP TUFT1 ENST00000538902 human ensembl 69_37n +1 known silent c.153 p.G51 0.970 NULL superfamily_Prefoldin - no_errors TUFT1 HGNC ENSG00000143367 107 0 0.00 213 33 13.41 - - - TULP4 0 genome.wustl.edu 37 6 158850769 158850769 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 158850769 158850769 T G SNP TULP4 ENST00000367097 human ensembl 69_37n +1 known missense c.383 p.V128G 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 220 1 0.45 183 30 14.02 - - - TULP4 0 genome.wustl.edu 37 6 158922909 158922909 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 158922909 158922909 T G SNP TULP4 ENST00000367097 human ensembl 69_37n +1 known silent c.2214 p.G738 0.979 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 166 0 0.00 83 20 19.42 - - - TXN2 0 genome.wustl.edu 37 22 36872820 36872820 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 36872820 36872820 A C SNP TXN2 ENST00000216185 human ensembl 69_37n -1 known missense c.347 p.V116G 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Thioredoxin pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Thioredoxin - no_errors TXN2 HGNC ENSG00000100348 171 0 0.00 94 31 24.80 - - - TXNDC11 0 genome.wustl.edu 37 16 11824565 11824565 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 11824565 11824565 A C SNP TXNDC11 ENST00000356957 human ensembl 69_37n -1 known missense c.635 p.V212G 1.000 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 108 0 0.00 114 39 25.49 - - - TXNDC2 0 genome.wustl.edu 37 18 9887412 9887412 + Nonstop_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 9887412 9887412 T G SNP TXNDC2 ENST00000536353 human ensembl 69_37n +1 putative nonstop c.331 p.*111G 0.000 NULL NULL - no_errors TXNDC2 HGNC ENSG00000168454 452 2 0.44 484 59 10.81 - - - TYRP1 0 genome.wustl.edu 37 9 12695809 12695809 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 12695809 12695809 A C SNP TYRP1 ENST00000388918 human ensembl 69_37n +1 known missense c.680 p.H227P 1.000 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 206 0 0.00 138 34 19.77 - - - UBA1 0 genome.wustl.edu 37 X 47065731 47065731 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 47065731 47065731 T G SNP UBA1 ENST00000335972 human ensembl 69_37n +1 known missense c.1826 p.V609G 1.000 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 56 0 0.00 51 12 19.05 - - - UBA1 0 genome.wustl.edu 37 X 47070558 47070558 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 47070558 47070558 A C SNP UBA1 ENST00000335972 human ensembl 69_37n +1 known missense c.2398 p.T800P 1.000 pfam_UBact_repeat,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 118 0 0.00 168 37 18.05 - - - UBA7 0 genome.wustl.edu 37 3 49849909 49849909 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 49849909 49849909 A C SNP UBA7 ENST00000333486 human ensembl 69_37n -1 known missense c.626 p.V209G 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 43 0 0.00 37 7 15.91 - - - UBAP2 0 genome.wustl.edu 37 9 33948440 33948440 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 33948440 33948440 T G SNP UBAP2 ENST00000360802 human ensembl 69_37n -1 known missense c.1202 p.H401P 0.467 NULL pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 202 1 0.49 141 30 17.54 - - - UBAP2L 0 genome.wustl.edu 37 1 154227786 154227786 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 154227786 154227786 A C SNP UBAP2L ENST00000361546 human ensembl 69_37n +1 known missense c.2068 p.T690P 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 161 1 0.62 196 30 13.27 - - - UBASH3B 0 genome.wustl.edu 37 11 122653835 122653835 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 122653835 122653835 A C SNP UBASH3B ENST00000284273 human ensembl 69_37n +1 known missense c.676 p.T226P 1.000 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 149 0 0.00 80 23 21.90 - - - UBD 0 genome.wustl.edu 37 6 29523867 29523867 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 29523867 29523867 A C SNP UBD ENST00000377050 human ensembl 69_37n -1 known silent c.288 p.G96 0.000 smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,smart_Ubiquitin,prints_Ubiquitin_subgr,pfscan_Ubiquitin_supergroup - no_errors UBD HGNC ENSG00000213886 173 1 0.57 104 18 14.75 - - - UBE2Q1 0 genome.wustl.edu 37 1 154524698 154524698 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 154524698 154524698 A C SNP UBE2Q1 ENST00000474181 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors UBE2Q1 HGNC ENSG00000160714 117 0 0.00 143 24 14.37 - - - UBE3B 0 genome.wustl.edu 37 12 109926431 109926431 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 109926431 109926431 A C SNP UBE3B ENST00000342494 human ensembl 69_37n +1 known missense c.502 p.T168P 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 339 1 0.29 227 31 12.02 - - - UBE4B 0 genome.wustl.edu 37 1 10132172 10132172 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 10132172 10132172 T C SNP UBE4B ENST00000495077 human ensembl 69_37n +1 putative missense c.43 p.S15P 0.955 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UBE4B HGNC ENSG00000130939 85 0 0.00 116 19 13.97 - - - UBN2 0 genome.wustl.edu 37 7 138968831 138968831 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 138968831 138968831 A C SNP UBN2 ENST00000473989 human ensembl 69_37n +1 known silent c.3180 p.S1060 1.000 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 236 0 0.00 310 48 13.30 - - - UBN2 0 genome.wustl.edu 37 7 138969024 138969024 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 138969024 138969024 A C SNP UBN2 ENST00000473989 human ensembl 69_37n +1 known missense c.3373 p.T1125P 1.000 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 140 0 0.00 166 30 15.23 - - - UBR2 0 genome.wustl.edu 37 6 42626013 42626013 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 42626013 42626013 A C SNP UBR2 ENST00000372899 human ensembl 69_37n +1 known silent c.3018 p.S1006 0.995 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 162 1 0.61 102 37 26.62 - - - UBR4 0 genome.wustl.edu 37 1 19439145 19439145 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 19439145 19439145 T G SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.11674 p.T3892P 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 121 1 0.81 100 23 18.70 - - - UBR4 0 genome.wustl.edu 37 1 19472303 19472303 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 19472303 19472303 T G SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known silent c.7929 p.A2643 0.817 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 119 1 0.83 65 15 18.75 - - - UBR4 0 genome.wustl.edu 37 1 19478891 19478891 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 19478891 19478891 A C SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known silent c.6912 p.G2304 0.954 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 271 0 0.00 198 25 11.21 - - - UBR4 0 genome.wustl.edu 37 1 19480424 19480424 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 19480424 19480424 A C SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known silent c.6468 p.G2156 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 200 0 0.00 141 34 19.21 - - - UBR4 0 genome.wustl.edu 37 1 19484465 19484465 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 19484465 19484465 A C SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known silent c.5604 p.G1868 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 230 0 0.00 145 18 10.91 - - - UBR4 0 genome.wustl.edu 37 1 19499512 19499512 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 19499512 19499512 T G SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.3367 p.T1123P 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 180 1 0.55 158 20 11.24 - - - UBR5 0 genome.wustl.edu 37 8 103307710 103307710 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 103307710 103307710 A C SNP UBR5 ENST00000520539 human ensembl 69_37n -1 known missense c.3863 p.V1288G 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 149 1 0.66 115 16 12.21 - - - UGT1A1 0 genome.wustl.edu 37 2 234669546 234669546 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 234669546 234669546 A C SNP UGT1A1 ENST00000305208 human ensembl 69_37n +1 known missense c.613 p.T205P 0.993 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A1 HGNC ENSG00000241635 215 0 0.00 143 24 14.20 - - - UGT1A10 0 genome.wustl.edu 37 2 234545957 234545957 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 234545957 234545957 A C SNP UGT1A10 ENST00000344644 human ensembl 69_37n +1 known missense c.789 p.K263N 0.664 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A10 HGNC ENSG00000242515 612 0 0.00 425 53 11.04 - - - UGT1A4 0 genome.wustl.edu 37 2 234627957 234627957 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 234627957 234627957 A C SNP UGT1A4 ENST00000373409 human ensembl 69_37n +1 known missense c.491 p.Y164S 0.001 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 266 0 0.00 232 26 10.00 - - - UGT2B11 0 genome.wustl.edu 37 4 70078319 70078319 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 70078319 70078319 T G SNP UGT2B11 ENST00000446444 human ensembl 69_37n -1 known missense c.842 p.H281P 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B11 HGNC ENSG00000213759 310 0 0.00 228 30 11.63 - - - UGT2B15 0 genome.wustl.edu 37 4 69533779 69533779 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 69533779 69533779 T G SNP UGT2B15 ENST00000338206 human ensembl 69_37n -1 known missense c.852 p.K284N 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 528 0 0.00 354 46 11.47 - - - UGT2B28 0 genome.wustl.edu 37 4 70146295 70146295 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 70146295 70146295 T G SNP UGT2B28 ENST00000335568 human ensembl 69_37n +1 known missense c.77 p.V26G 0.999 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 461 2 0.43 369 45 10.84 - - - UGT2B4 0 genome.wustl.edu 37 4 70346230 70346230 + RNA SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 70346230 70346230 T G SNP UGT2B4 ENST00000506580 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors UGT2B4 HGNC ENSG00000156096 85 0 0.00 57 11 16.18 - - - UGT2B7 0 genome.wustl.edu 37 4 69973902 69973902 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 69973902 69973902 T G SNP UGT2B7 ENST00000305231 human ensembl 69_37n +1 known missense c.1172 p.V391G 1.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B7 HGNC ENSG00000171234 215 0 0.00 214 38 15.08 - - - UGT3A1 0 genome.wustl.edu 37 5 35955885 35955885 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 35955885 35955885 A C SNP UGT3A1 ENST00000274278 human ensembl 69_37n -1 known missense c.1157 p.V386G 1.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 206 0 0.00 217 34 13.55 - - - UHRF2 0 genome.wustl.edu 37 9 6477776 6477776 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 6477776 6477776 A C SNP UHRF2 ENST00000276893 human ensembl 69_37n +1 known silent c.1128 p.P376 0.976 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ENSG00000147854 228 0 0.00 236 27 10.27 - - - ULBP2 0 genome.wustl.edu 37 6 150266701 150266701 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 150266701 150266701 A C SNP ULBP2 ENST00000367351 human ensembl 69_37n +1 known silent c.342 p.T114 0.000 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 ULBP2 HGNC ENSG00000131015 143 0 0.00 64 13 16.88 - - - ULBP3 0 genome.wustl.edu 37 6 150386621 150386621 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 150386621 150386621 T G SNP ULBP3 ENST00000367339 human ensembl 69_37n -1 known missense c.541 p.T181P 0.000 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 ULBP3 HGNC ENSG00000131019 102 1 0.97 86 14 14.00 - - - UMOD 0 genome.wustl.edu 37 16 20362022 20362022 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 20362022 20362022 A C SNP UMOD ENST00000424589 human ensembl 69_37n -1 known missense c.38 p.V13G 0.000 NULL pfam_Zona_pellucida_Endoglin/CD105,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors UMOD HGNC ENSG00000169344 38 0 0.00 30 9 23.08 - - - UNC5D 0 genome.wustl.edu 37 8 35579811 35579811 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 35579811 35579811 A C SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known missense c.1201 p.T401P 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 223 1 0.45 154 34 18.09 - - - UNC79 0 genome.wustl.edu 37 14 94039122 94039122 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 94039122 94039122 A C SNP UNC79 ENST00000553484 human ensembl 69_37n +1 known missense c.2030 p.Y677S 1.000 NULL superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 243 0 0.00 146 28 15.91 - - - UNC79 0 genome.wustl.edu 37 14 94046603 94046603 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 94046603 94046603 A C SNP UNC79 ENST00000553484 human ensembl 69_37n +1 known missense c.2542 p.T848P 1.000 NULL superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 141 1 0.70 66 17 20.48 - - - UNC79 0 genome.wustl.edu 37 14 94088870 94088870 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 94088870 94088870 A C SNP UNC79 ENST00000553484 human ensembl 69_37n +1 known missense c.5357 p.H1786P 0.002 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 202 2 0.98 140 34 19.54 - - - UNC79 0 genome.wustl.edu 37 14 94156523 94156523 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 94156523 94156523 T G SNP UNC79 ENST00000553484 human ensembl 69_37n +1 known silent c.7329 p.G2443 0.198 NULL superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 139 1 0.70 88 17 16.19 - - - UPF2 0 genome.wustl.edu 37 10 12077331 12077331 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 12077331 12077331 A C SNP UPF2 ENST00000356352 human ensembl 69_37n -1 known missense c.92 p.V31G 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 317 1 0.31 289 33 10.22 - - - UQCC 0 genome.wustl.edu 37 20 33935039 33935039 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 33935039 33935039 A C SNP UQCC ENST00000374385 human ensembl 69_37n -1 known missense c.501 p.S167R 0.874 pfam_Ubiq_cyt_c_chap/UPF0174 pfam_Ubiq_cyt_c_chap/UPF0174 - no_errors UQCC HGNC ENSG00000101019 215 0 0.00 210 38 15.32 - - - UQCRC2 0 genome.wustl.edu 37 16 21968763 21968763 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 21968763 21968763 T G SNP UQCRC2 ENST00000268379 human ensembl 69_37n +1 known missense c.143 p.V48G 1.000 superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors UQCRC2 HGNC ENSG00000140740 282 0 0.00 190 24 11.21 - - - USP2 0 genome.wustl.edu 37 11 119228515 119228515 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 119228515 119228515 A C SNP USP2 ENST00000260187 human ensembl 69_37n -1 known missense c.1453 p.C485G 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP2 HGNC ENSG00000036672 139 0 0.00 141 29 16.96 - - - USP26 0 genome.wustl.edu 37 X 132161352 132161352 + Missense_Mutation SNP A A T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 132161352 132161352 A T SNP USP26 ENST00000370832 human ensembl 69_37n -1 known missense c.897 p.N299K 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC ENSG00000134588 196 1 0.51 149 37 19.89 - - - USP30 0 genome.wustl.edu 37 12 109510140 109510140 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 109510140 109510140 A C SNP USP30 ENST00000257548 human ensembl 69_37n +1 known missense c.610 p.T204P 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP30 HGNC ENSG00000135093 194 1 0.51 186 45 19.48 - - - USP37 0 genome.wustl.edu 37 2 219363007 219363007 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 219363007 219363007 A C SNP USP37 ENST00000466523 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors USP37 HGNC ENSG00000135913 37 0 0.00 32 8 19.51 - - - USP39 0 genome.wustl.edu 37 2 85850817 85850817 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 85850817 85850817 A C SNP USP39 ENST00000409470 human ensembl 69_37n +1 known missense c.482 p.H161P 1.000 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP39 HGNC ENSG00000168883 143 0 0.00 122 29 19.21 - - - USP40 0 genome.wustl.edu 37 2 234431959 234431959 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 234431959 234431959 A C SNP USP40 ENST00000450966 human ensembl 69_37n -1 known silent c.2091 p.G697 0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP40 HGNC ENSG00000085982 397 1 0.25 247 32 11.43 - - - USP40 0 genome.wustl.edu 37 2 234432035 234432035 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 234432035 234432035 A C SNP USP40 ENST00000450966 human ensembl 69_37n -1 known missense c.2015 p.V672G 0.044 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP40 HGNC ENSG00000085982 342 0 0.00 221 33 12.99 - - - USP43 0 genome.wustl.edu 37 17 9578277 9578277 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 9578277 9578277 A C SNP USP43 ENST00000285199 human ensembl 69_37n +1 known silent c.810 p.L270 0.192 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC ENSG00000154914 439 1 0.23 287 41 12.46 - - - USP54 0 genome.wustl.edu 37 10 75258655 75258655 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 75258655 75258655 T G SNP USP54 ENST00000339859 human ensembl 69_37n -1 known missense c.4787 p.H1596P 0.001 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP54 HGNC ENSG00000166348 169 0 0.00 134 33 19.30 - - - USP54 0 genome.wustl.edu 37 10 75258663 75258663 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 75258663 75258663 T G SNP USP54 ENST00000339859 human ensembl 69_37n -1 known silent c.4779 p.S1593 0.001 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP54 HGNC ENSG00000166348 186 0 0.00 151 34 18.38 - - - USP6 0 genome.wustl.edu 37 17 5071409 5071409 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 5071409 5071409 A C SNP USP6 ENST00000250066 human ensembl 69_37n +1 known silent c.3219 p.P1073 0.942 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19 - no_errors USP6 HGNC ENSG00000129204 117 0 0.00 108 36 25.00 - - - USP9X 0 genome.wustl.edu 37 X 41075313 41075313 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 41075313 41075313 T G SNP USP9X ENST00000324545 human ensembl 69_37n +1 known silent c.5493 p.G1831 0.981 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 118 0 0.00 121 41 25.31 - - - USP9X 0 genome.wustl.edu 37 X 41075653 41075653 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 41075653 41075653 T G SNP USP9X ENST00000324545 human ensembl 69_37n +1 known missense c.5833 p.W1945G 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 170 0 0.00 192 23 10.70 - - - USPL1 0 genome.wustl.edu 37 13 31205503 31205503 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 31205503 31205503 A C SNP USPL1 ENST00000255304 human ensembl 69_37n +1 known missense c.760 p.T254P 0.001 pfscan_Peptidase_C19 pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 285 2 0.69 209 33 13.64 - - - UVRAG 0 genome.wustl.edu 37 11 75591009 75591009 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 75591009 75591009 T G SNP UVRAG ENST00000356136 human ensembl 69_37n +1 known silent c.357 p.G119 0.998 smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors UVRAG HGNC ENSG00000198382 370 1 0.27 215 31 12.55 - - - VAMP1 0 genome.wustl.edu 37 12 6574032 6574032 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 6574032 6574032 A C SNP VAMP1 ENST00000535927 human ensembl 69_37n -1 known rna NULL NULL 0.483 - - - no_errors VAMP1 HGNC ENSG00000139190 186 1 0.53 204 39 15.98 - - - VARS 0 genome.wustl.edu 37 6 31752013 31752013 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 31752013 31752013 T G SNP VARS ENST00000375663 human ensembl 69_37n -1 known missense c.1649 p.H550P 1.000 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Valyl-tRNA_synthetase,tigrfam_Valyl-tRNA_synthetase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_synthetase,tigrfam_Valyl-tRNA_synthetase - no_errors VARS HGNC ENSG00000204394 111 1 0.89 45 11 19.64 - - - VAT1 0 genome.wustl.edu 37 17 41168160 41168160 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 41168160 41168160 A C SNP VAT1 ENST00000355653 human ensembl 69_37n -1 known missense c.1100 p.V367G 1.000 smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1 HGNC ENSG00000108828 137 0 0.00 157 30 16.04 - - - VBP1 0 genome.wustl.edu 37 X 154467174 154467174 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 154467174 154467174 A C SNP VBP1 ENST00000459836 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors VBP1 HGNC ENSG00000155959 248 0 0.00 220 36 14.06 - - - VCAM1 0 genome.wustl.edu 37 1 101194810 101194810 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 101194810 101194810 T G SNP VCAM1 ENST00000294728 human ensembl 69_37n +1 known missense c.1076 p.V359G 0.404 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 133 1 0.74 99 20 16.67 - - - VCAN 0 genome.wustl.edu 37 5 82875916 82875916 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 82875916 82875916 A C SNP VCAN ENST00000265077 human ensembl 69_37n +1 known missense c.9998 p.H3333P 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 192 1 0.52 195 27 12.16 - - - VCP 0 genome.wustl.edu 37 9 35064200 35064200 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 35064200 35064200 A C SNP VCP ENST00000358901 human ensembl 69_37n -1 known missense c.659 p.V220G 1.000 tigrfam_ATPase_AAA_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase,tigrfam_ATPase_AAA_CDC48 - no_errors VCP HGNC ENSG00000165280 137 1 0.72 125 19 13.19 - - - VDAC1 0 genome.wustl.edu 37 5 133311581 133311581 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 133311581 133311581 T G SNP VDAC1 ENST00000265333 human ensembl 69_37n -1 known missense c.683 p.D228A 1.000 pfam_Porin_Euk pfam_Porin_Euk,prints_Porin_Euk - no_errors VDAC1 HGNC ENSG00000213585 143 0 0.00 170 29 14.57 - - - VGLL1 0 genome.wustl.edu 37 X 135630994 135630994 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 135630994 135630994 A C SNP VGLL1 ENST00000370634 human ensembl 69_37n +1 known missense c.461 p.H154P 0.000 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL1 HGNC ENSG00000102243 227 2 0.87 233 45 16.07 - - - VPRBP 0 genome.wustl.edu 37 3 51457421 51457421 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 51457421 51457421 T G SNP VPRBP ENST00000335891 human ensembl 69_37n -1 known silent c.1656 p.P552 0.657 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 245 2 0.81 306 40 11.46 - - - VPS13B 0 genome.wustl.edu 37 8 100711900 100711900 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 100711900 100711900 T G SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known missense c.6269 p.V2090G 0.200 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 196 0 0.00 164 20 10.87 - - - VPS13B 0 genome.wustl.edu 37 8 100830715 100830715 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 100830715 100830715 T G SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known missense c.8473 p.C2825G 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 149 1 0.66 102 18 14.88 - - - VPS13D 0 genome.wustl.edu 37 1 12333109 12333109 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 12333109 12333109 T G SNP VPS13D ENST00000358136 human ensembl 69_37n +1 known missense c.2153 p.V718G 1.000 NULL pfam_VPSAP,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 VPS13D HGNC ENSG00000048707 184 0 0.00 155 34 17.99 - - - VPS13D 0 genome.wustl.edu 37 1 12338010 12338010 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 12338010 12338010 A C SNP VPS13D ENST00000011700 human ensembl 69_37n +1 novel missense c.833 p.H278P 0.075 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VPS13D HGNC ENSG00000048707 267 2 0.73 143 35 19.44 - - - VPS13D 0 genome.wustl.edu 37 1 12343273 12343273 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 12343273 12343273 A C SNP VPS13D ENST00000358136 human ensembl 69_37n +1 known missense c.5114 p.Y1705S 1.000 NULL pfam_VPSAP,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 VPS13D HGNC ENSG00000048707 353 1 0.28 273 44 13.84 - - - VPS13D 0 genome.wustl.edu 37 1 12423158 12423158 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 12423158 12423158 A C SNP VPS13D ENST00000358136 human ensembl 69_37n +1 known missense c.10303 p.T3435P 1.000 pfam_VPSAP pfam_VPSAP,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 VPS13D HGNC ENSG00000048707 224 0 0.00 199 40 16.74 - - - VPS13D 0 genome.wustl.edu 37 1 12429618 12429618 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 12429618 12429618 A C SNP VPS13D ENST00000358136 human ensembl 69_37n +1 known missense c.10669 p.T3557P 1.000 pfam_VPSAP pfam_VPSAP,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 VPS13D HGNC ENSG00000048707 252 0 0.00 219 32 12.75 - - - VPS13D 0 genome.wustl.edu 37 1 12446264 12446264 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 12446264 12446264 T G SNP VPS13D ENST00000011700 human ensembl 69_37n +1 novel missense c.7970 p.V2657G 0.996 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VPS13D HGNC ENSG00000048707 267 0 0.00 237 34 12.55 - - - VPS16 0 genome.wustl.edu 37 20 2845110 2845110 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 2845110 2845110 T G SNP VPS16 ENST00000380445 human ensembl 69_37n +1 known splice_site c.1818+2 e18+2 0.986 - - - no_errors VPS16 HGNC ENSG00000215305 120 0 0.00 126 35 21.74 - - - VPS16 0 genome.wustl.edu 37 20 2845251 2845251 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 2845251 2845251 A C SNP VPS16 ENST00000380445 human ensembl 69_37n +1 known missense c.1877 p.H626P 1.000 pfam_Vps16_C,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 152 0 0.00 148 19 11.38 - - - VPS33B 0 genome.wustl.edu 37 15 91542959 91542959 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 91542959 91542959 A C SNP VPS33B ENST00000333371 human ensembl 69_37n -1 known silent c.1722 p.G574 0.322 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC ENSG00000184056 238 0 0.00 311 49 13.61 - - - VPS53 0 genome.wustl.edu 37 17 436129 436129 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 436129 436129 T G SNP VPS53 ENST00000437048 human ensembl 69_37n -1 known missense c.2038 p.T680P 1.000 NULL pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 29 0 0.00 27 5 15.62 - - - VSTM1 0 genome.wustl.edu 37 19 54561727 54561727 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 54561727 54561727 A C SNP VSTM1 ENST00000338372 human ensembl 69_37n -1 known missense c.188 p.V63G 0.000 smart_Ig_sub,pfscan_Ig-like smart_Ig_sub,pfscan_Ig-like - no_errors VSTM1 HGNC ENSG00000189068 118 0 0.00 167 28 14.29 - - - VSX1 0 genome.wustl.edu 37 20 25059463 25059463 + Splice_Site SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 25059463 25059463 A C SNP VSX1 ENST00000376709 human ensembl 69_37n -1 known splice_site c.627+2 e3+2 1.000 - - - no_errors VSX1 HGNC ENSG00000100987 195 0 0.00 133 24 15.29 - - - VWA3B 0 genome.wustl.edu 37 2 98736089 98736089 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 98736089 98736089 T G SNP VWA3B ENST00000477737 human ensembl 69_37n +1 known silent c.405 p.G135 0.938 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 162 0 0.00 145 21 12.65 - - - VWA8 0 genome.wustl.edu 37 13 42404717 42404717 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 13 42404717 42404717 A C SNP VWA8 ENST00000379310 human ensembl 69_37n -1 known missense c.1648 p.Y550D 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 164 1 0.61 124 26 17.33 - - - WBP2NL 0 genome.wustl.edu 37 22 42422936 42422936 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 42422936 42422936 A C SNP WBP2NL ENST00000328823 human ensembl 69_37n +1 known silent c.681 p.P227 0.001 NULL pfam_WW-domain-binding,pfam_GRAM - no_errors WBP2NL HGNC ENSG00000183066 305 2 0.65 217 33 13.10 - - - WDPCP 0 genome.wustl.edu 37 2 63666923 63666923 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 63666923 63666923 A C SNP WDPCP ENST00000272321 human ensembl 69_37n -1 known missense c.467 p.V156G 1.000 pfam_DUF3312 pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 199 1 0.50 116 22 15.94 - - - WDR11 0 genome.wustl.edu 37 10 122648628 122648628 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 122648628 122648628 T G SNP WDR11 ENST00000263461 human ensembl 69_37n +1 known silent c.2160 p.G720 0.616 pfam_WD40_repeat,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 113 0 0.00 86 20 18.87 - - - WDR33 0 genome.wustl.edu 37 2 128471406 128471406 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 128471406 128471406 T G SNP WDR33 ENST00000322313 human ensembl 69_37n -1 known missense c.3059 p.H1020P 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 166 0 0.00 129 26 16.77 - - - WDR33 0 genome.wustl.edu 37 2 128522231 128522231 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 128522231 128522231 T G SNP WDR33 ENST00000409658 human ensembl 69_37n -1 known missense c.797 p.H266P 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 46 0 0.00 37 8 17.78 - - - WDR44 0 genome.wustl.edu 37 X 117527137 117527137 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 117527137 117527137 A C SNP WDR44 ENST00000371848 human ensembl 69_37n +1 known missense c.427 p.T143P 0.943 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region WDR44 HGNC ENSG00000131725 527 2 0.38 499 109 17.87 - - - WDR46 0 genome.wustl.edu 37 6 33256955 33256955 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 33256955 33256955 A C SNP WDR46 ENST00000468157 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors WDR46 HGNC ENSG00000227057 62 0 0.00 45 14 23.73 - - - WDR47 0 genome.wustl.edu 37 1 109514140 109514140 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 109514140 109514140 A C SNP WDR47 ENST00000400794 human ensembl 69_37n -1 known missense c.2696 p.V899G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 108 1 0.92 127 19 13.01 - - - WDR47 0 genome.wustl.edu 37 1 109553707 109553707 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 109553707 109553707 T G SNP WDR47 ENST00000400794 human ensembl 69_37n -1 known missense c.982 p.T328P 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 317 1 0.31 252 31 10.80 - - - WDR52 0 genome.wustl.edu 37 3 113122819 113122819 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 113122819 113122819 A C SNP WDR52 ENST00000393845 human ensembl 69_37n -1 known silent c.1050 p.G350 0.001 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 323 1 0.31 219 35 13.62 - - - WDR65 0 genome.wustl.edu 37 1 43675624 43675624 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 43675624 43675624 A C SNP WDR65 ENST00000528956 human ensembl 69_37n +1 known missense c.1966 p.T656P 0.008 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 280 2 0.71 232 52 18.31 - - - WDR70 0 genome.wustl.edu 37 5 37701206 37701206 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 37701206 37701206 A C SNP WDR70 ENST00000265107 human ensembl 69_37n +1 known silent c.1239 p.P413 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 WDR70 HGNC ENSG00000082068 110 0 0.00 82 19 18.63 - - - WDR92 0 genome.wustl.edu 37 2 68371769 68371769 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 68371769 68371769 A C SNP WDR92 ENST00000295121 human ensembl 69_37n -1 known silent c.363 p.G121 0.991 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR92 HGNC ENSG00000243667 223 0 0.00 162 20 10.99 - - - WEE2 0 genome.wustl.edu 37 7 141408695 141408695 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 141408695 141408695 T G SNP WEE2 ENST00000397541 human ensembl 69_37n +1 known missense c.137 p.V46G 0.000 pirsf_Wee1-like_protein_kinase 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_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom - no_errors WEE2 HGNC ENSG00000214102 348 2 0.57 455 58 11.26 - - - WEE2 0 genome.wustl.edu 37 7 141423063 141423063 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 141423063 141423063 A C SNP WEE2 ENST00000397541 human ensembl 69_37n +1 known missense c.1010 p.H337P 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_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom 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_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom - no_errors WEE2 HGNC ENSG00000214102 330 1 0.30 222 37 14.29 - - - WEE2 0 genome.wustl.edu 37 7 141423076 141423076 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 141423076 141423076 A C SNP WEE2 ENST00000397541 human ensembl 69_37n +1 known missense c.1023 p.K341N 0.998 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_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom 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_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom - no_errors WEE2 HGNC ENSG00000214102 323 1 0.31 238 32 11.81 - - - WFDC10B 0 genome.wustl.edu 37 20 44333626 44333626 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 44333626 44333626 A C SNP WFDC10B ENST00000335769 human ensembl 69_37n -1 known missense c.5 p.V2G 0.208 NULL NULL - no_errors WFDC10B HGNC ENSG00000182931 275 1 0.36 227 59 20.56 - - - WIPI2 0 genome.wustl.edu 37 7 5256252 5256252 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 5256252 5256252 T G SNP WIPI2 ENST00000288828 human ensembl 69_37n +1 known missense c.440 p.V147G 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 63 0 0.00 75 19 20.21 - - - WISP1 0 genome.wustl.edu 37 8 134237704 134237704 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 134237704 134237704 A C SNP WISP1 ENST00000250160 human ensembl 69_37n +1 known missense c.682 p.T228P 0.982 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 65 0 0.00 55 8 12.70 - - - WISP2 0 genome.wustl.edu 37 20 43355909 43355909 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 43355909 43355909 A C SNP WISP2 ENST00000372865 human ensembl 69_37n +1 known missense c.467 p.H156P 0.006 NULL pfam_IGFBP-like,smart_IGFBP-like - no_errors WISP2 HGNC ENSG00000064205 32 0 0.00 28 10 26.32 - - - WISP3 0 genome.wustl.edu 37 6 112386070 112386070 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 112386070 112386070 A C SNP WISP3 ENST00000361714 human ensembl 69_37n +1 known silent c.513 p.T171 0.001 pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt - no_errors WISP3 HGNC ENSG00000112761 316 0 0.00 194 25 11.36 - - - WISP3 0 genome.wustl.edu 37 6 112386121 112386121 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 112386121 112386121 T G SNP WISP3 ENST00000361714 human ensembl 69_37n +1 known silent c.564 p.G188 0.000 pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt - no_errors WISP3 HGNC ENSG00000112761 290 1 0.34 191 28 12.79 - - - WIZ 0 genome.wustl.edu 37 19 15537897 15537897 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 15537897 15537897 A C SNP WIZ ENST00000389282 human ensembl 69_37n -1 known missense c.3548 p.V1183G 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 37 0 0.00 17 10 37.04 - - - WLS 0 genome.wustl.edu 37 1 68619305 68619305 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 68619305 68619305 A C SNP WLS ENST00000540432 human ensembl 69_37n -1 known missense c.698 p.V233G 1.000 NULL NULL - no_errors WLS HGNC ENSG00000116729 173 1 0.57 130 20 13.25 - - - WNK1 0 genome.wustl.edu 37 12 977207 977207 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 977207 977207 A C SNP WNK1 ENST00000530271 human ensembl 69_37n +1 known missense c.2570 p.H857P 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 216 0 0.00 197 25 11.16 - - - WNK1 0 genome.wustl.edu 37 12 989988 989988 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 989988 989988 T C SNP WNK1 ENST00000545285 human ensembl 69_37n +1 novel missense c.433 p.S145P 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon WNK1 HGNC ENSG00000060237 455 2 0.44 383 57 12.84 - - - WNK1 0 genome.wustl.edu 37 12 990015 990015 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 990015 990015 A C SNP WNK1 ENST00000545285 human ensembl 69_37n +1 novel missense c.460 p.T154P 0.876 NULL NULL - no_start_codon:pseudogene:no_stop_codon WNK1 HGNC ENSG00000060237 382 1 0.26 313 42 11.80 - - - WNK1 0 genome.wustl.edu 37 12 994743 994743 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 994743 994743 A C SNP WNK1 ENST00000530271 human ensembl 69_37n +1 known silent c.6267 p.T2089 0.815 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 232 1 0.43 240 34 12.41 - - - WNK3 0 genome.wustl.edu 37 X 54278051 54278051 + Nonsense_Mutation SNP G G A TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 54278051 54278051 G A SNP WNK3 ENST00000354646 human ensembl 69_37n -1 known nonsense c.2437 p.Q813* 0.966 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 71 0 0.00 56 14 20.00 - - - WNK3 0 genome.wustl.edu 37 X 54359807 54359807 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 54359807 54359807 A C SNP WNK3 ENST00000354646 human ensembl 69_37n -1 known silent c.300 p.G100 0.869 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 201 0 0.00 193 23 10.60 - - - WWOX 0 genome.wustl.edu 37 16 78458843 78458843 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 78458843 78458843 A C SNP WWOX ENST00000566780 human ensembl 69_37n +1 known missense c.682 p.T228P 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 272 0 0.00 213 42 16.34 - - - XIRP2 0 genome.wustl.edu 37 2 168102873 168102873 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 168102873 168102873 T G SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known silent c.4971 p.G1657 0.969 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 267 1 0.37 180 25 12.14 - - - XIRP2 0 genome.wustl.edu 37 2 168104946 168104946 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 168104946 168104946 A C SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known silent c.7044 p.P2348 0.998 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 665 2 0.30 537 77 12.52 - - - XIST 0 genome.wustl.edu 37 X 73045899 73045899 + RNA SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 73045899 73045899 A C SNP XIST ENST00000429829 human ensembl 69_37n -1 known rna NULL NULL 0.010 - - - no_errors XIST HGNC ENSG00000229807 214 0 0.00 248 35 12.37 - - - XK 0 genome.wustl.edu 37 X 37587560 37587560 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 37587560 37587560 T G SNP XK ENST00000378616 human ensembl 69_37n +1 known missense c.1180 p.C394G 0.002 NULL pfam_Transport_prot_XK - no_errors XK HGNC ENSG00000047597 319 2 0.62 241 40 14.23 - - - XKR8 0 genome.wustl.edu 37 1 28293094 28293094 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 28293094 28293094 T C SNP XKR8 ENST00000373884 human ensembl 69_37n +1 known missense c.571 p.S191P 0.671 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR8 HGNC ENSG00000158156 54 0 0.00 51 13 20.00 - - - XKRX 0 genome.wustl.edu 37 X 100183173 100183173 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 100183173 100183173 T G SNP XKRX ENST00000328526 human ensembl 69_37n -1 known missense c.160 p.T54P 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 336 0 0.00 261 54 17.09 - - - XPC 0 genome.wustl.edu 37 3 14197937 14197937 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 14197937 14197937 T G SNP XPC ENST00000285021 human ensembl 69_37n -1 known missense c.1931 p.H644P 1.000 pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 225 2 0.88 237 38 13.82 - - - XPNPEP2 0 genome.wustl.edu 37 X 128886315 128886315 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 128886315 128886315 A C SNP XPNPEP2 ENST00000371106 human ensembl 69_37n +1 known silent c.1011 p.I337 1.000 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 163 0 0.00 119 26 17.81 - - - XPNPEP2 0 genome.wustl.edu 37 X 128902310 128902310 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 128902310 128902310 T G SNP XPNPEP2 ENST00000371106 human ensembl 69_37n +1 known missense c.1874 p.V625G 0.742 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 55 0 0.00 68 16 18.82 - - - XPO6 0 genome.wustl.edu 37 16 28117482 28117482 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 28117482 28117482 A C SNP XPO6 ENST00000304658 human ensembl 69_37n -1 known missense c.2666 p.V889G 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 32 0 0.00 30 10 24.39 - - - XRCC5 0 genome.wustl.edu 37 2 217012932 217012932 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 217012932 217012932 A C SNP XRCC5 ENST00000392132 human ensembl 69_37n +1 known missense c.1603 p.T535P 0.996 pfam_Ku_C,superfamily_SPOC-like pfam_Ku_N,pfam_Ku_PK_bind,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,superfamily_SPOC-like,superfamily_Ku_PK_bind,smart_VWF_A,smart_DNA_helicase_ATP-dep_Ku - no_errors XRCC5 HGNC ENSG00000079246 489 2 0.41 446 89 16.60 - - - XYLT1 0 genome.wustl.edu 37 16 17211580 17211580 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 17211580 17211580 T G SNP XYLT1 ENST00000261381 human ensembl 69_37n -1 known missense c.2480 p.H827P 1.000 NULL pfam_XylT_met,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 129 1 0.76 151 27 15.17 - - - YARS 0 genome.wustl.edu 37 1 33245839 33245839 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 33245839 33245839 A C SNP YARS ENST00000373477 human ensembl 69_37n -1 known missense c.1181 p.V394G 1.000 pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom,prints_Tyr-tRNA-synth,tigrfam_Tyr-tRNA-synth - no_errors YARS HGNC ENSG00000134684 126 1 0.79 125 16 11.35 - - - YARS 0 genome.wustl.edu 37 1 33272120 33272120 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 33272120 33272120 T G SNP YARS ENST00000373477 human ensembl 69_37n -1 known missense c.473 p.H158P 1.000 pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-synth,tigrfam_Tyr-tRNA-synth pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom,prints_Tyr-tRNA-synth,tigrfam_Tyr-tRNA-synth - no_errors YARS HGNC ENSG00000134684 349 2 0.57 252 34 11.81 - - - YLPM1 0 genome.wustl.edu 37 14 75230898 75230898 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 75230898 75230898 T C SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known missense c.706 p.S236P 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 99 0 0.00 64 12 15.79 - - - YLPM1 0 genome.wustl.edu 37 14 75247275 75247275 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 75247275 75247275 A C SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known silent c.1278 p.P426 0.080 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 371 0 0.00 256 39 13.22 - - - YLPM1 0 genome.wustl.edu 37 14 75248351 75248351 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 75248351 75248351 T C SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known silent c.1605 p.P535 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 474 4 0.84 373 51 11.97 - - - YLPM1 0 genome.wustl.edu 37 14 75248378 75248378 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 75248378 75248378 A C SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known silent c.1632 p.P544 0.985 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 511 2 0.39 386 61 13.65 - - - YLPM1 0 genome.wustl.edu 37 14 75265528 75265528 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 75265528 75265528 T G SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known silent c.3528 p.G1176 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 121 0 0.00 104 27 20.61 - - - YTHDC2 0 genome.wustl.edu 37 5 112901617 112901617 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 5 112901617 112901617 T G SNP YTHDC2 ENST00000161863 human ensembl 69_37n +1 known missense c.2743 p.W915G 1.000 NULL pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 219 1 0.45 126 35 21.74 - - - ZAK 0 genome.wustl.edu 37 2 174055653 174055653 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 174055653 174055653 T G SNP ZAK ENST00000375213 human ensembl 69_37n +1 known splice_site c.444+2 e5+2 1.000 - - - no_errors AC013461.1 Clone_based_vega_gene ENSG00000091436 198 0 0.00 145 21 12.65 - - - ZAN 0 genome.wustl.edu 37 7 100334213 100334213 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 100334213 100334213 A C SNP ZAN ENST00000546292 human ensembl 69_37n +1 known missense c.214 p.T72P 0.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 105 0 0.00 119 32 21.05 - - - ZAP70 0 genome.wustl.edu 37 2 98354250 98354250 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 2 98354250 98354250 T G SNP ZAP70 ENST00000264972 human ensembl 69_37n +1 known missense c.1513 p.W505G 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors ZAP70 HGNC ENSG00000115085 97 1 1.00 56 13 18.84 - - - ZBP1 0 genome.wustl.edu 37 20 56185301 56185301 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 56185301 56185301 T G SNP ZBP1 ENST00000343535 human ensembl 69_37n -1 known missense c.997 p.T333P 0.000 NULL pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase - no_errors ZBP1 HGNC ENSG00000124256 203 0 0.00 184 24 11.48 - - - ZBTB16 0 genome.wustl.edu 37 11 114121049 114121049 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 114121049 114121049 T G SNP ZBTB16 ENST00000335953 human ensembl 69_37n +1 known silent c.1794 p.G598 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 168 0 0.00 108 18 14.17 - - - ZBTB38 0 genome.wustl.edu 37 3 141162374 141162374 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 141162374 141162374 A C SNP ZBTB38 ENST00000321464 human ensembl 69_37n +1 known missense c.1147 p.T383P 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 277 2 0.71 241 55 18.58 - - - ZBTB39 0 genome.wustl.edu 37 12 57398476 57398476 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 12 57398476 57398476 T G SNP ZBTB39 ENST00000300101 human ensembl 69_37n -1 known missense c.226 p.T76P 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB39 HGNC ENSG00000166860 243 2 0.81 117 24 16.90 - - - ZBTB40 0 genome.wustl.edu 37 1 22816815 22816815 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 22816815 22816815 T G SNP ZBTB40 ENST00000375647 human ensembl 69_37n +1 known missense c.374 p.V125G 0.998 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 231 1 0.43 246 44 15.07 - - - ZBTB40 0 genome.wustl.edu 37 1 22838211 22838211 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 22838211 22838211 T G SNP ZBTB40 ENST00000375647 human ensembl 69_37n +1 known missense c.2045 p.V682G 0.682 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 95 0 0.00 50 21 29.58 - - - ZBTB41 0 genome.wustl.edu 37 1 197169225 197169225 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 197169225 197169225 T G SNP ZBTB41 ENST00000367405 human ensembl 69_37n -1 known missense c.379 p.T127P 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 141 0 0.00 210 25 10.55 - - - ZBTB44 0 genome.wustl.edu 37 11 130130903 130130903 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 130130903 130130903 A C SNP ZBTB44 ENST00000357899 human ensembl 69_37n -1 known missense c.866 p.V289G 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB44 HGNC ENSG00000196323 260 1 0.38 188 27 12.56 - - - ZBTB5 0 genome.wustl.edu 37 9 37442334 37442334 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 37442334 37442334 A C SNP ZBTB5 ENST00000307750 human ensembl 69_37n -1 known missense c.215 p.V72G 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB5 HGNC ENSG00000168795 79 0 0.00 88 18 16.98 - - - ZC3H12B 0 genome.wustl.edu 37 X 64721841 64721841 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 64721841 64721841 T G SNP ZC3H12B ENST00000338957 human ensembl 69_37n +1 known silent c.1263 p.G421 0.995 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 125 0 0.00 81 20 19.80 - - - ZC3H7B 0 genome.wustl.edu 37 22 41735178 41735178 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 22 41735178 41735178 A C SNP ZC3H7B ENST00000351589 human ensembl 69_37n +1 known missense c.799 p.T267P 1.000 NULL pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 50 0 0.00 32 16 33.33 - - - ZCCHC24 0 genome.wustl.edu 37 10 81154121 81154121 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 81154121 81154121 A C SNP ZCCHC24 ENST00000372336 human ensembl 69_37n -1 known missense c.523 p.C175G 1.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC24 HGNC ENSG00000165424 47 0 0.00 34 4 10.53 - - - ZCCHC6 0 genome.wustl.edu 37 9 88938451 88938451 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 9 88938451 88938451 A C SNP ZCCHC6 ENST00000375963 human ensembl 69_37n -1 known silent c.2214 p.G738 0.001 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 184 0 0.00 141 24 14.55 - - - ZEB1 0 genome.wustl.edu 37 10 31810831 31810831 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 31810831 31810831 A C SNP ZEB1 ENST00000361642 human ensembl 69_37n +1 known silent c.2571 p.P857 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 215 1 0.46 156 26 14.21 - - - ZFHX3 0 genome.wustl.edu 37 16 72828688 72828688 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 72828688 72828688 A C SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known missense c.7893 p.S2631R 0.586 superfamily_Homeodomain-like 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 268 2 0.74 159 18 10.11 - - - ZFHX3 0 genome.wustl.edu 37 16 72832472 72832472 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 72832472 72832472 A C SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known missense c.4109 p.V1370G 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 197 0 0.00 122 19 13.48 - - - ZFHX4 0 genome.wustl.edu 37 8 77776631 77776631 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 8 77776631 77776631 A C SNP ZFHX4 ENST00000521891 human ensembl 69_37n +1 known missense c.10681 p.T3561P 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 ZFHX4 HGNC ENSG00000091656 134 1 0.74 135 28 17.18 - - - ZFP14 0 genome.wustl.edu 37 19 36831888 36831888 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 36831888 36831888 A C SNP ZFP14 ENST00000270001 human ensembl 69_37n -1 known silent c.840 p.G280 0.606 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 ZFP14 HGNC ENSG00000142065 265 0 0.00 209 35 14.29 - - - ZFP42 0 genome.wustl.edu 37 4 188924198 188924198 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 4 188924198 188924198 T G SNP ZFP42 ENST00000326866 human ensembl 69_37n +1 known silent c.237 p.G79 0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 113 0 0.00 72 19 20.65 - - - ZFP57 0 genome.wustl.edu 37 6 29643808 29643808 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 29643808 29643808 A C SNP ZFP57 ENST00000488757 human ensembl 69_37n -1 known missense c.152 p.V51G 0.894 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZFP57 HGNC ENSG00000204644 266 0 0.00 231 28 10.73 - - - ZFP90 0 genome.wustl.edu 37 16 68592013 68592013 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 68592013 68592013 A C SNP ZFP90 ENST00000398253 human ensembl 69_37n +1 known missense c.146 p.H49P 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZFP90 HGNC ENSG00000184939 283 0 0.00 282 33 10.38 - - - ZFX 0 genome.wustl.edu 37 X 24225830 24225830 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 24225830 24225830 T G SNP ZFX ENST00000338565 human ensembl 69_37n +1 known missense c.648 p.C216W 1.000 NULL pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 248 1 0.40 234 29 11.03 - - - ZFX 0 genome.wustl.edu 37 X 24228424 24228424 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 24228424 24228424 A C SNP ZFX ENST00000540034 human ensembl 69_37n +1 known missense c.1466 p.H489P 1.000 pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 283 0 0.00 230 30 11.54 - - - ZFYVE1 0 genome.wustl.edu 37 14 73437720 73437720 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 73437720 73437720 T G SNP ZFYVE1 ENST00000553891 human ensembl 69_37n -1 known missense c.2204 p.H735P 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 57 0 0.00 57 14 19.44 - - - ZFYVE1 0 genome.wustl.edu 37 14 73490943 73490943 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 73490943 73490943 A C SNP ZFYVE1 ENST00000553891 human ensembl 69_37n -1 known missense c.274 p.C92G 1.000 superfamily_Growth_fac_rcpt pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 210 0 0.00 135 20 12.90 - - - ZFYVE20 0 genome.wustl.edu 37 3 15115623 15115623 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 15115623 15115623 A C SNP ZFYVE20 ENST00000253699 human ensembl 69_37n -1 known missense c.2021 p.V674G 0.000 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 156 0 0.00 188 22 10.43 - - - ZFYVE26 0 genome.wustl.edu 37 14 68248166 68248166 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 68248166 68248166 A C SNP ZFYVE26 ENST00000347230 human ensembl 69_37n -1 known missense c.4453 p.W1485G 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 120 1 0.82 100 24 19.35 - - - ZFYVE26 0 genome.wustl.edu 37 14 68252704 68252704 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 68252704 68252704 A C SNP ZFYVE26 ENST00000347230 human ensembl 69_37n -1 known missense c.3175 p.C1059G 0.992 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 167 0 0.00 145 26 15.12 - - - ZHX3 0 genome.wustl.edu 37 20 39831767 39831767 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 39831767 39831767 T G SNP ZHX3 ENST00000373263 human ensembl 69_37n -1 known missense c.1790 p.H597P 0.229 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ZHX3 HGNC ENSG00000174306 152 0 0.00 108 25 18.80 - - - ZKSCAN5 0 genome.wustl.edu 37 7 99103756 99103756 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 99103756 99103756 T G SNP ZKSCAN5 ENST00000326775 human ensembl 69_37n +1 known missense c.89 p.V30G 1.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 169 0 0.00 183 24 11.59 - - - ZKSCAN5 0 genome.wustl.edu 37 7 99117844 99117844 + Missense_Mutation SNP A A G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 99117844 99117844 A G SNP ZKSCAN5 ENST00000326775 human ensembl 69_37n +1 known missense c.689 p.E230G 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 117 1 0.85 156 23 12.85 - - - ZMIZ2 0 genome.wustl.edu 37 7 44802918 44802918 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 44802918 44802918 T G SNP ZMIZ2 ENST00000309315 human ensembl 69_37n +1 known missense c.1766 p.V589G 1.000 pfscan_Znf_MIZ pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 47 0 0.00 26 7 21.21 - - - ZMYND10 0 genome.wustl.edu 37 3 50381208 50381208 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 50381208 50381208 A C SNP ZMYND10 ENST00000231749 human ensembl 69_37n -1 known missense c.275 p.V92G 1.000 pirsf_UCP037948_Znf-MYND pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND - no_errors ZMYND10 HGNC ENSG00000004838 44 0 0.00 51 14 21.54 - - - ZNF18 0 genome.wustl.edu 37 17 11894407 11894407 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 11894407 11894407 A C SNP ZNF18 ENST00000322748 human ensembl 69_37n -1 known missense c.461 p.V154G 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF18 HGNC ENSG00000154957 380 2 0.52 324 39 10.71 - - - ZNF202 0 genome.wustl.edu 37 11 123601258 123601258 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 123601258 123601258 A C SNP ZNF202 ENST00000336139 human ensembl 69_37n -1 known missense c.339 p.S113R 0.946 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF202 HGNC ENSG00000166261 215 1 0.46 192 32 14.04 - - - ZNF217 0 genome.wustl.edu 37 20 52198428 52198428 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 52198428 52198428 A C SNP ZNF217 ENST00000302342 human ensembl 69_37n -1 known missense c.938 p.V313G 0.967 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 151 0 0.00 123 15 10.87 - - - ZNF229 0 genome.wustl.edu 37 19 44934529 44934529 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 44934529 44934529 A C SNP ZNF229 ENST00000588931 human ensembl 69_37n -1 known missense c.427 p.W143G 0.000 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 ZNF229 HGNC ENSG00000167383 146 1 0.67 93 31 24.60 - - - ZNF234 0 genome.wustl.edu 37 19 44660426 44660426 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 44660426 44660426 T G SNP ZNF234 ENST00000426739 human ensembl 69_37n +1 known missense c.257 p.V86G 0.058 pfscan_Krueppel-associated_box 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 ZNF234 HGNC ENSG00000263002 211 0 0.00 207 32 13.33 - - - ZNF236 0 genome.wustl.edu 37 18 74622659 74622659 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 74622659 74622659 A C SNP ZNF236 ENST00000253159 human ensembl 69_37n +1 known silent c.2691 p.P897 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 178 1 0.56 115 16 12.21 - - - ZNF275 0 genome.wustl.edu 37 X 152612811 152612811 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 152612811 152612811 A C SNP ZNF275 ENST00000440091 human ensembl 69_37n +1 known missense c.758 p.H253P 0.240 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 ZNF275 HGNC ENSG00000063587 300 0 0.00 186 42 18.42 - - - ZNF282 0 genome.wustl.edu 37 7 148895475 148895475 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 148895475 148895475 A C SNP ZNF282 ENST00000262085 human ensembl 69_37n +1 known silent c.216 p.P72 0.947 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF282 HGNC ENSG00000170265 125 1 0.79 124 23 15.54 - - - ZNF304 0 genome.wustl.edu 37 19 57868451 57868451 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 57868451 57868451 A C SNP ZNF304 ENST00000443917 human ensembl 69_37n +1 known missense c.1355 p.H452P 0.017 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 ZNF304 HGNC ENSG00000131845 239 1 0.41 186 24 11.43 - - - ZNF317 0 genome.wustl.edu 37 19 9267296 9267296 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9267296 9267296 A C SNP ZNF317 ENST00000247956 human ensembl 69_37n +1 known missense c.34 p.T12P 0.000 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 ZNF317 HGNC ENSG00000130803 480 0 0.00 541 74 12.01 - - - ZNF318 0 genome.wustl.edu 37 6 43307008 43307008 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 43307008 43307008 A C SNP ZNF318 ENST00000361428 human ensembl 69_37n -1 known silent c.4728 p.G1576 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 117 0 0.00 326 54 14.21 - - - ZNF318 0 genome.wustl.edu 37 6 43325020 43325020 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 43325020 43325020 A C SNP ZNF318 ENST00000361428 human ensembl 69_37n -1 known silent c.1032 p.G344 0.004 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 202 0 0.00 132 27 16.98 - - - ZNF365 0 genome.wustl.edu 37 10 64159343 64159343 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 64159343 64159343 A C SNP ZNF365 ENST00000395254 human ensembl 69_37n +1 known missense c.1019 p.H340P 0.969 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 307 2 0.65 301 43 12.43 - - - ZNF365 0 genome.wustl.edu 37 10 64159361 64159361 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 64159361 64159361 A C SNP ZNF365 ENST00000395254 human ensembl 69_37n +1 known missense c.1037 p.H346P 0.053 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 294 1 0.34 258 51 16.45 - - - ZNF365 0 genome.wustl.edu 37 10 64430000 64430000 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 10 64430000 64430000 A C SNP ZNF365 ENST00000410046 human ensembl 69_37n +1 known missense c.1328 p.H443P 0.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 371 0 0.00 271 32 10.56 - - - ZNF398 0 genome.wustl.edu 37 7 148876043 148876043 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 148876043 148876043 A C SNP ZNF398 ENST00000540950 human ensembl 69_37n +1 known missense c.1094 p.H365P 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ENSG00000197024 225 0 0.00 321 55 14.51 - - - ZNF410 0 genome.wustl.edu 37 14 74376084 74376084 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 14 74376084 74376084 T G SNP ZNF410 ENST00000555044 human ensembl 69_37n +1 known silent c.954 p.R318 0.992 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF410 HGNC ENSG00000119725 219 2 0.90 152 19 11.11 - - - ZNF426 0 genome.wustl.edu 37 19 9639849 9639849 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 9639849 9639849 T G SNP ZNF426 ENST00000253115 human ensembl 69_37n -1 known missense c.872 p.Y291S 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF426 HGNC ENSG00000130818 230 0 0.00 205 24 10.43 - - - ZNF436 0 genome.wustl.edu 37 1 23689084 23689084 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 23689084 23689084 T G SNP ZNF436 ENST00000314011 human ensembl 69_37n -1 known missense c.791 p.H264P 1.000 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 ZNF436 HGNC ENSG00000125945 132 0 0.00 129 18 12.24 - - - ZNF460 0 genome.wustl.edu 37 19 57802827 57802827 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 57802827 57802827 A C SNP ZNF460 ENST00000360338 human ensembl 69_37n +1 known missense c.918 p.K306N 0.001 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 ZNF460 HGNC ENSG00000197714 144 0 0.00 145 19 11.59 - - - ZNF501 0 genome.wustl.edu 37 3 44776284 44776284 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 44776284 44776284 A C SNP ZNF501 ENST00000396048 human ensembl 69_37n +1 known missense c.371 p.H124P 0.768 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF501 HGNC ENSG00000186446 165 0 0.00 142 23 13.94 - - - ZNF516 0 genome.wustl.edu 37 18 74091505 74091505 + Silent SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 74091505 74091505 T C SNP ZNF516 ENST00000443185 human ensembl 69_37n -1 known silent c.2565 p.G855 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 71 0 0.00 36 7 16.28 - - - ZNF530 0 genome.wustl.edu 37 19 58118407 58118407 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 58118407 58118407 A C SNP ZNF530 ENST00000332854 human ensembl 69_37n +1 known missense c.1514 p.H505P 0.000 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 ZNF530 HGNC ENSG00000183647 222 0 0.00 174 23 11.68 - - - ZNF532 0 genome.wustl.edu 37 18 56586018 56586018 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 18 56586018 56586018 T G SNP ZNF532 ENST00000336078 human ensembl 69_37n +1 known missense c.499 p.S167A 0.766 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 341 1 0.29 268 35 11.51 - - - ZNF549 0 genome.wustl.edu 37 19 58050080 58050080 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 58050080 58050080 A C SNP ZNF549 ENST00000376233 human ensembl 69_37n +1 known missense c.1708 p.T570P 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF549 HGNC ENSG00000121406 205 1 0.49 118 32 21.33 - - - ZNF551 0 genome.wustl.edu 37 19 58198785 58198785 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 58198785 58198785 A C SNP ZNF551 ENST00000356715 human ensembl 69_37n +1 known missense c.1142 p.H381P 1.000 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 ZNF551 HGNC ENSG00000204519 251 1 0.40 233 27 10.31 - - - ZNF563 0 genome.wustl.edu 37 19 12430263 12430263 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 12430263 12430263 A C SNP ZNF563 ENST00000293725 human ensembl 69_37n -1 known silent c.576 p.G192 0.034 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 ZNF563 HGNC ENSG00000188868 279 0 0.00 225 45 16.67 - - - ZNF582 0 genome.wustl.edu 37 19 56901402 56901402 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 56901402 56901402 A C SNP ZNF582 ENST00000301310 human ensembl 69_37n -1 known missense c.200 p.V67G 0.000 pfscan_Krueppel-associated_box 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 ZNF582 HGNC ENSG00000018869 103 0 0.00 82 21 20.39 - - - ZNF609 0 genome.wustl.edu 37 15 64968031 64968031 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 15 64968031 64968031 A C SNP ZNF609 ENST00000326648 human ensembl 69_37n +1 known missense c.2978 p.H993P 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 321 3 0.92 296 45 13.20 - - - ZNF611 0 genome.wustl.edu 37 19 53217346 53217346 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 53217346 53217346 A C SNP ZNF611 ENST00000319783 human ensembl 69_37n -1 known missense c.112 p.W38G 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF611 HGNC ENSG00000213020 516 3 0.58 462 61 11.64 - - - ZNF619 0 genome.wustl.edu 37 3 40523417 40523417 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 40523417 40523417 A C SNP ZNF619 ENST00000447116 human ensembl 69_37n +1 known missense c.88 p.T30P 0.995 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF619 HGNC ENSG00000177873 239 2 0.83 240 31 11.44 - - - ZNF645 0 genome.wustl.edu 37 X 22291960 22291960 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 22291960 22291960 A C SNP ZNF645 ENST00000323684 human ensembl 69_37n +1 known silent c.852 p.P284 0.001 NULL pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ENSG00000175809 362 1 0.27 285 51 15.18 - - - ZNF648 0 genome.wustl.edu 37 1 182027118 182027118 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 182027118 182027118 A C SNP ZNF648 ENST00000339948 human ensembl 69_37n -1 known missense c.28 p.W10G 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 79 0 0.00 65 20 23.26 - - - ZNF649 0 genome.wustl.edu 37 19 52394001 52394001 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 52394001 52394001 A C SNP ZNF649 ENST00000354957 human ensembl 69_37n -1 known missense c.1388 p.V463G 0.532 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 ZNF649 HGNC ENSG00000198093 366 0 0.00 383 54 12.33 - - - ZNF691 0 genome.wustl.edu 37 1 43316934 43316934 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 43316934 43316934 A C SNP ZNF691 ENST00000397044 human ensembl 69_37n +1 known missense c.398 p.H133P 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF691 HGNC ENSG00000164011 286 0 0.00 263 42 13.77 - - - ZNF746 0 genome.wustl.edu 37 7 149191158 149191158 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 149191158 149191158 A C SNP ZNF746 ENST00000458143 human ensembl 69_37n -1 known missense c.328 p.W110G 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC ENSG00000181220 203 2 0.98 245 32 11.55 - - - ZNF749 0 genome.wustl.edu 37 19 57955119 57955119 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 57955119 57955119 T G SNP ZNF749 ENST00000334181 human ensembl 69_37n +1 known silent c.603 p.G201 0.746 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 ZNF749 HGNC ENSG00000186230 312 1 0.32 177 27 13.04 - - - ZNF75D 0 genome.wustl.edu 37 X 134421118 134421118 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 134421118 134421118 T G SNP ZNF75D ENST00000370766 human ensembl 69_37n -1 known missense c.1484 p.H495P 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF75D HGNC ENSG00000186376 212 0 0.00 176 21 10.66 - - - ZNF76 0 genome.wustl.edu 37 6 35258142 35258142 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 6 35258142 35258142 A C SNP ZNF76 ENST00000373953 human ensembl 69_37n +1 known missense c.532 p.T178P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF76 HGNC ENSG00000065029 274 1 0.36 223 30 11.86 - - - ZNF77 0 genome.wustl.edu 37 19 2939369 2939369 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 2939369 2939369 T G SNP ZNF77 ENST00000314531 human ensembl 69_37n -1 known missense c.40 p.T14P 0.973 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF77 HGNC ENSG00000175691 111 0 0.00 81 19 19.00 - - - ZNF778 0 genome.wustl.edu 37 16 89293604 89293604 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 16 89293604 89293604 A C SNP ZNF778 ENST00000433976 human ensembl 69_37n +1 known missense c.824 p.H275P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF778 HGNC ENSG00000170100 113 1 0.85 66 19 22.09 - - - ZNF783 0 genome.wustl.edu 37 7 148963687 148963687 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 148963687 148963687 T G SNP ZNF783 ENST00000434415 human ensembl 69_37n +1 known missense c.286 p.W96G 1.000 pfam_DUF3669_Znf pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF783 HGNC ENSG00000204946 173 1 0.56 185 25 11.74 - - - ZNF800 0 genome.wustl.edu 37 7 127014827 127014827 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 127014827 127014827 A C SNP ZNF800 ENST00000265827 human ensembl 69_37n -1 known missense c.563 p.V188G 0.939 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 284 0 0.00 183 28 13.21 - - - ZNF808 0 genome.wustl.edu 37 19 53057655 53057655 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 53057655 53057655 T G SNP ZNF808 ENST00000487863 human ensembl 69_37n +1 known missense c.1279 p.S427A 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF808 HGNC ENSG00000198482 288 1 0.35 226 28 10.98 - - - ZNF808 0 genome.wustl.edu 37 19 53058667 53058667 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 53058667 53058667 A C SNP ZNF808 ENST00000487863 human ensembl 69_37n +1 known missense c.2291 p.H764P 0.013 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF808 HGNC ENSG00000198482 404 0 0.00 372 46 10.98 - - - ZNF835 0 genome.wustl.edu 37 19 57175337 57175337 + Silent SNP C C T TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 57175337 57175337 C T SNP ZNF835 ENST00000537055 human ensembl 69_37n -1 known silent c.1230 p.K410 0.206 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 24 0 0.00 24 6 20.00 - - - ZNHIT6 0 genome.wustl.edu 37 1 86173876 86173876 + Missense_Mutation SNP T T C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 86173876 86173876 T C SNP ZNHIT6 ENST00000370574 human ensembl 69_37n -1 known missense c.92 p.E31G 0.024 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT6 HGNC ENSG00000117174 198 1 0.50 161 38 19.10 - - - ZP1 0 genome.wustl.edu 37 11 60638520 60638520 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 60638520 60638520 A C SNP ZP1 ENST00000278853 human ensembl 69_37n +1 known missense c.917 p.H306P 0.059 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr pfam_Zona_pellucida_Endoglin/CD105,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP1 HGNC ENSG00000149506 70 0 0.00 21 7 25.00 - - - ZP1 0 genome.wustl.edu 37 11 60638537 60638537 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 60638537 60638537 A C SNP ZP1 ENST00000278853 human ensembl 69_37n +1 known missense c.934 p.T312P 0.000 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr pfam_Zona_pellucida_Endoglin/CD105,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP1 HGNC ENSG00000149506 74 0 0.00 22 10 31.25 - - - ZP3 0 genome.wustl.edu 37 7 76062303 76062303 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 76062303 76062303 T G SNP ZP3 ENST00000394857 human ensembl 69_37n +1 known missense c.491 p.V164G 0.007 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP3 HGNC ENSG00000188372 31 0 0.00 29 7 19.44 - - - ZP3 0 genome.wustl.edu 37 7 76062945 76062945 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 7 76062945 76062945 A C SNP ZP3 ENST00000394857 human ensembl 69_37n +1 known missense c.694 p.T232P 0.878 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP3 HGNC ENSG00000188372 71 0 0.00 95 21 18.10 - - - ZP4 0 genome.wustl.edu 37 1 238051746 238051746 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 1 238051746 238051746 T G SNP ZP4 ENST00000366570 human ensembl 69_37n -1 known silent c.465 p.A155 0.001 pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP4 HGNC ENSG00000116996 140 0 0.00 200 26 11.50 - - - ZRSR2 0 genome.wustl.edu 37 X 15833901 15833901 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 X 15833901 15833901 A C SNP ZRSR2 ENST00000307771 human ensembl 69_37n +1 known missense c.659 p.D220A 1.000 smart_RRM_dom_euk,pfscan_RRM_dom pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,prints_U2_small,pfscan_RRM_dom - no_errors ZRSR2 HGNC ENSG00000169249 124 0 0.00 114 27 19.15 - - - ZSCAN1 0 genome.wustl.edu 37 19 58565326 58565326 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 58565326 58565326 A C SNP ZSCAN1 ENST00000282326 human ensembl 69_37n +1 known missense c.1134 p.R378S 0.998 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 20 0 0.00 14 5 26.32 - - - ZSCAN4 0 genome.wustl.edu 37 19 58189791 58189791 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 19 58189791 58189791 T G SNP ZSCAN4 ENST00000318203 human ensembl 69_37n +1 known missense c.820 p.C274G 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN4 HGNC ENSG00000180532 107 0 0.00 104 25 19.38 - - - ZSWIM1 0 genome.wustl.edu 37 20 44511366 44511366 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 20 44511366 44511366 A C SNP ZSWIM1 ENST00000372520 human ensembl 69_37n +1 known silent c.135 p.P45 0.926 NULL pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM1 HGNC ENSG00000168612 133 1 0.75 139 21 13.04 - - - ZW10 0 genome.wustl.edu 37 11 113609076 113609076 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 11 113609076 113609076 A C SNP ZW10 ENST00000200135 human ensembl 69_37n -1 known silent c.1794 p.G598 0.998 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 120 0 0.00 83 23 21.70 - - - ZXDC 0 genome.wustl.edu 37 3 126191013 126191013 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 3 126191013 126191013 T G SNP ZXDC ENST00000389709 human ensembl 69_37n -1 known missense c.1043 p.H348P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDC HGNC ENSG00000070476 60 0 0.00 51 20 27.78 - - - ZZEF1 0 genome.wustl.edu 37 17 3926061 3926061 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 3926061 3926061 A C SNP ZZEF1 ENST00000381638 human ensembl 69_37n -1 known missense c.7154 p.V2385G 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 134 0 0.00 170 20 10.47 - - - ZZEF1 0 genome.wustl.edu 37 17 3937349 3937349 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 3937349 3937349 T G SNP ZZEF1 ENST00000381638 human ensembl 69_37n -1 known missense c.6544 p.T2182P 0.991 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 193 0 0.00 213 49 18.56 - - - ZZEF1 0 genome.wustl.edu 37 17 3966100 3966100 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 3966100 3966100 T G SNP ZZEF1 ENST00000571436 human ensembl 69_37n -1 known missense c.286 p.T96P 0.005 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZZEF1 HGNC ENSG00000074755 43 0 0.00 28 13 31.71 - - - ZZEF1 0 genome.wustl.edu 37 17 3989085 3989085 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 799fe8eb-ef90-40d9-850b-aea8c529a4da 53ce4246-678f-45a1-be5b-7f6863bbd049 17 3989085 3989085 A C SNP ZZEF1 ENST00000381638 human ensembl 69_37n -1 known missense c.2525 p.V842G 0.001 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 289 1 0.34 226 37 14.07 - - -