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 A1CF 0 genome.wustl.edu 37 10 52587953 52587953 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 52587953 52587953 C A SNP A1CF ENST00000282641 human ensembl 69_37n -1 known missense c.707 p.R236I 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 181 1 0.55 58 76 56.72 - - - ABCA13 0 genome.wustl.edu 37 7 48313842 48313842 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 48313842 48313842 C T SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known silent c.4579 p.L1527 0.068 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 35 0 0.00 25 13 34.21 - - - ABCA4 0 genome.wustl.edu 37 1 94463492 94463492 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 94463492 94463492 G C SNP ABCA4 ENST00000370225 human ensembl 69_37n -1 known missense c.6654 p.I2218M 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 149 0 0.00 25 48 65.75 - - - ABCA4 0 genome.wustl.edu 37 1 94526200 94526200 + Missense_Mutation SNP T T A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 94526200 94526200 T A SNP ABCA4 ENST00000370225 human ensembl 69_37n -1 known missense c.2053 p.T685S 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 80 0 0.00 56 11 16.42 - - - ABCB9 0 genome.wustl.edu 37 12 123433250 123433250 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 123433250 123433250 G A SNP ABCB9 ENST00000442028 human ensembl 69_37n -1 known missense c.974 p.S325L 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 ABCB9 HGNC ENSG00000150967 58 0 0.00 43 29 40.28 - - - ABCG4 0 genome.wustl.edu 37 11 119027683 119027683 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 119027683 119027683 G A SNP ABCG4 ENST00000307417 human ensembl 69_37n +1 known missense c.1027 p.E343K 1.000 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG4 HGNC ENSG00000172350 75 0 0.00 22 25 53.19 - - - ABLIM3 0 genome.wustl.edu 37 5 148610219 148610219 + Missense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 148610219 148610219 G T SNP ABLIM3 ENST00000309868 human ensembl 69_37n +1 known missense c.765 p.E255D 1.000 pfam_Znf_LIM,smart_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 127 0 0.00 114 53 31.74 - - - ACIN1 0 genome.wustl.edu 37 14 23559272 23559272 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 23559272 23559272 C T SNP ACIN1 ENST00000262710 human ensembl 69_37n -1 known missense c.529 p.E177K 1.000 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ENSG00000100813 39 0 0.00 23 11 32.35 - - - ACOT12 0 genome.wustl.edu 37 5 80655778 80655778 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 80655778 80655778 C T SNP ACOT12 ENST00000307624 human ensembl 69_37n -1 known missense c.440 p.R147Q 0.991 NULL pfam_Thioestr_supf,pfam_START_lipid-bd,pfscan_START_lipid-bd - no_errors ACOT12 HGNC ENSG00000172497 182 0 0.00 171 72 29.63 - - - ACRBP 0 genome.wustl.edu 37 12 6748131 6748131 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 6748131 6748131 G A SNP ACRBP ENST00000229243 human ensembl 69_37n -1 known missense c.1498 p.R500C 0.813 NULL pfam_Proacrosin-bd - no_errors ACRBP HGNC ENSG00000111644 86 0 0.00 68 17 20.00 - - - ACRV1 0 genome.wustl.edu 37 11 125547821 125547821 + Nonsense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 125547821 125547821 C A SNP ACRV1 ENST00000533904 human ensembl 69_37n -1 known nonsense c.424 p.E142* 0.999 NULL NULL - no_errors ACRV1 HGNC ENSG00000134940 205 0 0.00 92 127 57.99 - - - ACSL4 0 genome.wustl.edu 37 X 108926090 108926090 + Silent SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 108926090 108926090 A G SNP ACSL4 ENST00000340800 human ensembl 69_37n -1 known silent c.387 p.L129 0.010 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 81 0 0.00 27 27 50.00 - - - ACTL7A 0 genome.wustl.edu 37 9 111625579 111625579 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 111625579 111625579 C G SNP ACTL7A ENST00000333999 human ensembl 69_37n +1 known missense c.977 p.S326C 0.999 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7A HGNC ENSG00000187003 34 0 0.00 20 17 45.95 - - - ACTN2 0 genome.wustl.edu 37 1 236914796 236914796 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 236914796 236914796 C G SNP ACTN2 ENST00000366578 human ensembl 69_37n +1 known missense c.1683 p.F561L 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN2 HGNC ENSG00000077522 44 0 0.00 55 12 17.91 - - - ACTR8 0 genome.wustl.edu 37 3 53902779 53902779 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 53902779 53902779 G A SNP ACTR8 ENST00000486794 human ensembl 69_37n -1 novel missense c.1103 p.A368V 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ACTR8 HGNC ENSG00000113812 139 0 0.00 57 30 34.48 - - - ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 69_37n +1 known frame_shift_del c.1303 p.K437fs 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_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ENSG00000121989 115 0 0.00 70 41 36.94 - - - ACY3 0 genome.wustl.edu 37 11 67412606 67412606 + Frame_Shift_Del DEL G G - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 67412606 67412606 G - DEL ACY3 ENST00000255082 human ensembl 69_37n -1 known frame_shift_del c.544 p.Q182fs 1.000 pfam_Aste_AspA,pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ACY3 HGNC ENSG00000132744 47 0 0.00 14 6 30.00 - - - ADAM19 0 genome.wustl.edu 37 5 156921772 156921772 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 156921772 156921772 C T SNP ADAM19 ENST00000517374 human ensembl 69_37n -1 putative missense c.338 p.R113K 1.000 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 ADAM19 HGNC ENSG00000135074 137 0 0.00 113 55 32.74 - - - ADAMDEC1 0 genome.wustl.edu 37 8 24259557 24259557 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 24259557 24259557 G A SNP ADAMDEC1 ENST00000256412 human ensembl 69_37n +1 known silent c.1272 p.G424 0.997 pfscan_Blood-coag_inhib_Disintegrin 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 78 0 0.00 33 45 57.69 - - - ADCK5 0 genome.wustl.edu 37 8 145615938 145615938 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 145615938 145615938 G A SNP ADCK5 ENST00000308860 human ensembl 69_37n +1 known missense c.334 p.V112M 0.962 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 140 0 0.00 35 29 45.31 - - - ADCY10 0 genome.wustl.edu 37 1 167873162 167873162 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 167873162 167873162 C T SNP ADCY10 ENST00000367851 human ensembl 69_37n -1 known silent c.216 p.V72 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 130 0 0.00 103 57 35.62 - - - ADCY4 0 genome.wustl.edu 37 14 24788637 24788637 + Silent SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 24788637 24788637 G T SNP ADCY4 ENST00000310677 human ensembl 69_37n -1 known silent c.2739 p.L913 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 119 1 0.83 100 57 36.31 - - - ADH5 0 genome.wustl.edu 37 4 100003226 100003226 + Silent SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 100003226 100003226 C G SNP ADH5 ENST00000296412 human ensembl 69_37n -1 known silent c.156 p.L52 0.991 pfam_ADH_GroES-like,superfamily_GroES-like,tigrfam_ADH_3 pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3 - no_errors ADH5 HGNC ENSG00000197894 111 0 0.00 39 38 49.35 - - - ADNP2 0 genome.wustl.edu 37 18 77893955 77893955 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 77893955 77893955 G A SNP ADNP2 ENST00000262198 human ensembl 69_37n +1 known missense c.659 p.C220Y 1.000 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 70 0 0.00 38 14 26.92 - - - ADORA1 0 genome.wustl.edu 37 1 203098124 203098124 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 203098124 203098124 C T SNP ADORA1 ENST00000309502 human ensembl 69_37n +1 known missense c.155 p.A52V 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_Adenosn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 127 0 0.00 76 32 29.63 - - - AGAP7 0 genome.wustl.edu 37 10 51465078 51465078 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 51465078 51465078 C T SNP AGAP7 ENST00000374095 human ensembl 69_37n -1 known missense c.1378 p.E460K 1.000 pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 64 0 0.00 102 15 12.82 - - - AGBL1 0 genome.wustl.edu 37 15 86702163 86702163 + Splice_Site SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 86702163 86702163 G A SNP AGBL1 ENST00000441037 human ensembl 69_37n +1 known splice_site c.257-1 e3-1 0.989 - - - no_errors AGBL1 HGNC ENSG00000166748 128 1 0.78 42 52 55.32 - - - AGBL3 0 genome.wustl.edu 37 7 134819798 134819798 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 134819798 134819798 G A SNP AGBL3 ENST00000458078 human ensembl 69_37n +1 known missense c.2713 p.E905K 0.029 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC ENSG00000146856 76 0 0.00 72 32 30.77 - - - AHI1 0 genome.wustl.edu 37 6 135778809 135778809 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 135778809 135778809 T C SNP AHI1 ENST00000265602 human ensembl 69_37n -1 known missense c.974 p.E325G 1.000 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 98 0 0.00 133 24 15.29 - - - AHNAK2 0 genome.wustl.edu 37 14 105410897 105410897 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 105410897 105410897 C T SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.10891 p.V3631M 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 115 0 0.00 118 58 32.95 - - - AKAP9 0 genome.wustl.edu 37 7 91641902 91641902 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 91641902 91641902 G C SNP AKAP9 ENST00000359028 human ensembl 69_37n +1 known missense c.3514 p.E1172Q 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 88 0 0.00 51 37 42.05 - - - AKD1 0 genome.wustl.edu 37 6 109814642 109814642 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 109814642 109814642 C T SNP AKD1 ENST00000424296 human ensembl 69_37n -1 known missense c.5666 p.R1889K 0.995 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 143 0 0.00 46 98 68.06 - - - AKD1 0 genome.wustl.edu 37 6 109819084 109819084 + Missense_Mutation SNP T T G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 109819084 109819084 T G SNP AKD1 ENST00000424296 human ensembl 69_37n -1 known missense c.5131 p.T1711P 1.000 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 99 1 1.00 34 63 64.95 - - - ALDH1L1 0 genome.wustl.edu 37 3 125874329 125874329 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 125874329 125874329 C T SNP ALDH1L1 ENST00000393434 human ensembl 69_37n -1 known silent c.546 p.L182 0.995 superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 60 0 0.00 8 13 61.90 - - - ALG10 0 genome.wustl.edu 37 12 34176968 34176968 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 34176968 34176968 G C SNP ALG10 ENST00000266483 human ensembl 69_37n +1 known missense c.243 p.W81C 1.000 pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10 pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10 - no_errors ALG10 HGNC ENSG00000139133 302 0 0.00 279 130 31.71 - - - ANGPT4 0 genome.wustl.edu 37 20 896631 896631 + Missense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 896631 896631 G T SNP ANGPT4 ENST00000381922 human ensembl 69_37n -1 known missense c.227 p.P76Q 0.001 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT4 HGNC ENSG00000101280 85 0 0.00 43 12 21.43 - - - ANK2 0 genome.wustl.edu 37 4 114232536 114232536 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 114232536 114232536 G C SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.2674 p.E892Q 1.000 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 81 0 0.00 41 42 50.60 - - - ANKHD1 0 genome.wustl.edu 37 5 139781841 139781841 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 139781841 139781841 G A SNP ANKHD1 ENST00000297183 human ensembl 69_37n +1 known missense c.289 p.E97K 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 21 0 0.00 2 4 66.67 - - - ANKHD1 0 genome.wustl.edu 37 5 139876234 139876234 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 139876234 139876234 G C SNP ANKHD1 ENST00000297183 human ensembl 69_37n +1 known missense c.2375 p.R792T 1.000 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_errors ANKHD1 HGNC ENSG00000131503 54 0 0.00 32 17 34.69 - - - AP2M1 0 genome.wustl.edu 37 3 183898910 183898910 + Silent SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 183898910 183898910 G T SNP AP2M1 ENST00000292807 human ensembl 69_37n +1 known silent c.603 p.V201 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 161 0 0.00 29 39 57.35 - - - AP4E1 0 genome.wustl.edu 37 15 51242111 51242111 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 51242111 51242111 A G SNP AP4E1 ENST00000261842 human ensembl 69_37n +1 known missense c.1405 p.N469D 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 149 0 0.00 111 13 10.40 - - - APBA1 0 genome.wustl.edu 37 9 72131547 72131547 + Nonsense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 72131547 72131547 G A SNP APBA1 ENST00000265381 human ensembl 69_37n -1 known nonsense c.580 p.Q194* 0.998 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA1 HGNC ENSG00000107282 29 0 0.00 16 9 36.00 - - - APBA2 0 genome.wustl.edu 37 15 29397633 29397633 + Nonsense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 29397633 29397633 G T SNP APBA2 ENST00000558259 human ensembl 69_37n +1 known nonsense c.1576 p.E526* 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA2 HGNC ENSG00000034053 46 0 0.00 9 19 65.52 - - - APOA1 0 genome.wustl.edu 37 11 116706998 116706998 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 116706998 116706998 C G SNP APOA1 ENST00000236850 human ensembl 69_37n -1 known missense c.330 p.M110I 0.956 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA1 HGNC ENSG00000118137 83 0 0.00 13 23 63.89 - - - APPL1 0 genome.wustl.edu 37 3 57276921 57276921 + Frame_Shift_Del DEL A A - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 57276921 57276921 A - DEL APPL1 ENST00000288266 human ensembl 69_37n +1 known frame_shift_del c.453 p.R154fs 0.881 NULL pfam_PTyr_interaction_dom,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom - no_errors APPL1 HGNC ENSG00000157500 163 0 0.00 105 69 39.20 - - - ARHGAP12 0 genome.wustl.edu 37 10 32197425 32197425 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 32197425 32197425 G A SNP ARHGAP12 ENST00000344936 human ensembl 69_37n -1 known missense c.359 p.S120L 0.726 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_SH3_domain,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP12 HGNC ENSG00000165322 82 0 0.00 32 28 46.67 - - - ARHGAP21 0 genome.wustl.edu 37 10 24873956 24873956 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 24873956 24873956 G A SNP ARHGAP21 ENST00000396432 human ensembl 69_37n -1 known silent c.5262 p.S1754 0.000 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 57 0 0.00 26 24 48.00 - - - ARHGAP6 0 genome.wustl.edu 37 X 11682550 11682550 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 11682550 11682550 C G SNP ARHGAP6 ENST00000337414 human ensembl 69_37n -1 known missense c.399 p.K133N 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 55 0 0.00 9 7 43.75 - - - ARHGEF1 0 genome.wustl.edu 37 19 42409363 42409363 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 42409363 42409363 G A SNP ARHGEF1 ENST00000378152 human ensembl 69_37n +1 known silent c.2232 p.L744 1.000 smart_Pleckstrin_homology pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 54 0 0.00 33 23 41.07 - - - ARMC3 0 genome.wustl.edu 37 10 23287250 23287250 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 23287250 23287250 C T SNP ARMC3 ENST00000298032 human ensembl 69_37n +1 known missense c.1349 p.S450F 0.205 superfamily_ARM-type_fold pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 71 0 0.00 25 39 60.94 - - - ARMC5 0 genome.wustl.edu 37 16 31477928 31477928 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 31477928 31477928 C A SNP ARMC5 ENST00000408912 human ensembl 69_37n +1 known missense c.2811 p.F937L 1.000 superfamily_BTB/POZ_fold superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ENSG00000140691 41 0 0.00 12 5 27.78 - - - ARMCX6 0 genome.wustl.edu 37 X 100871481 100871481 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 100871481 100871481 C G SNP ARMCX6 ENST00000361910 human ensembl 69_37n -1 known missense c.130 p.E44Q 0.988 NULL pfam_ARM-rpt_dom - no_errors ARMCX6 HGNC ENSG00000198960 187 0 0.00 43 49 53.26 - - - ARSK 0 genome.wustl.edu 37 5 94927253 94927253 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 94927253 94927253 G A SNP ARSK ENST00000380009 human ensembl 69_37n +1 known missense c.1020 p.M340I 0.079 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 142 0 0.00 112 48 30.00 - - - ASXL1 0 genome.wustl.edu 37 20 31024523 31024523 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 31024523 31024523 G A SNP ASXL1 ENST00000375687 human ensembl 69_37n +1 known silent c.4008 p.G1336 0.885 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 30 0 0.00 19 8 29.63 - - - ATP13A1 0 genome.wustl.edu 37 19 19767527 19767527 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 19767527 19767527 C T SNP ATP13A1 ENST00000357324 human ensembl 69_37n -1 known missense c.1025 p.R342Q 0.998 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_unknown-pump-sp 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_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A1 HGNC ENSG00000105726 54 0 0.00 28 15 34.88 - - - ATP2C2 0 genome.wustl.edu 37 16 84474522 84474522 + Silent SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 84474522 84474522 C A SNP ATP2C2 ENST00000262429 human ensembl 69_37n +1 known silent c.1269 p.V423 0.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1 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 151 0 0.00 55 55 50.00 - - - ATP6V0A1 0 genome.wustl.edu 37 17 40647143 40647143 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 40647143 40647143 C T SNP ATP6V0A1 ENST00000264649 human ensembl 69_37n +1 known missense c.1427 p.S476F 1.000 pfam_ATPase_V0/A0_a pfam_ATPase_V0/A0_a - no_errors ATP6V0A1 HGNC ENSG00000033627 158 0 0.00 93 62 40.00 - - - ATRIP 0 genome.wustl.edu 37 3 48501834 48501834 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 48501834 48501834 G C SNP ATRIP ENST00000320211 human ensembl 69_37n +1 known missense c.1381 p.E461Q 0.903 NULL NULL - no_errors ATRIP HGNC ENSG00000164053 75 0 0.00 31 23 42.59 - - - AVL9 0 genome.wustl.edu 37 7 32588492 32588492 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 32588492 32588492 G A SNP AVL9 ENST00000404479 human ensembl 69_37n +1 known missense c.334 p.E112K 1.000 pfam_Secretory_pathway_prot_Avl9,pfam_DUF2347 pfam_Secretory_pathway_prot_Avl9,pfam_DUF2347 - no_errors AVL9 HGNC ENSG00000105778 69 0 0.00 41 19 31.67 - - - BBS9 0 genome.wustl.edu 37 7 33388707 33388707 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 33388707 33388707 C G SNP BBS9 ENST00000242067 human ensembl 69_37n +1 known missense c.1357 p.Q453E 0.868 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 143 0 0.00 117 69 37.10 - - - BCAP31 0 genome.wustl.edu 37 X 152969538 152969538 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 152969538 152969538 C T SNP BCAP31 ENST00000458587 human ensembl 69_37n -1 known missense c.554 p.R185H 1.000 pfam_Bap31 pfam_Bap31 - no_errors BCAP31 HGNC ENSG00000185825 73 0 0.00 25 22 46.81 - - - BICC1 0 genome.wustl.edu 37 10 60549085 60549085 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 60549085 60549085 G A SNP BICC1 ENST00000373886 human ensembl 69_37n +1 known missense c.664 p.D222N 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 116 0 0.00 44 49 52.69 - - - BRD3 0 genome.wustl.edu 37 9 136901437 136901437 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 136901437 136901437 C T SNP BRD3 ENST00000303407 human ensembl 69_37n -1 known silent c.1653 p.K551 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 60 0 0.00 33 18 35.29 - - - BRF1 0 genome.wustl.edu 37 14 105707730 105707730 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 105707730 105707730 C T SNP BRF1 ENST00000546474 human ensembl 69_37n -1 known missense c.566 p.R189H 0.999 pfam_TFIIB_cyclin,superfamily_Cyclin-like,smart_Cyclin-like pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,prints_TFIIB,pfscan_Znf_TFIIB - no_errors BRF1 HGNC ENSG00000185024 65 0 0.00 33 7 17.50 - - - BRSK2 0 genome.wustl.edu 37 11 1462075 1462075 + Frame_Shift_Del DEL G G - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 1462075 1462075 G - DEL BRSK2 ENST00000382179 human ensembl 69_37n +1 known frame_shift_del c.468 p.R158fs 0.999 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 BRSK2 HGNC ENSG00000174672 36 0 0.00 15 15 48.39 - - - BSN 0 genome.wustl.edu 37 3 49692119 49692119 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 49692119 49692119 C T SNP BSN ENST00000296452 human ensembl 69_37n +1 known silent c.5130 p.A1710 0.343 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 54 0 0.00 12 8 40.00 - - - BUB1 0 genome.wustl.edu 37 2 111416320 111416320 + Splice_Site SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 111416320 111416320 C A SNP BUB1 ENST00000302759 human ensembl 69_37n -1 known splice_site c.1277-1 e12-1 0.337 - - - no_errors BUB1 HGNC ENSG00000169679 173 1 0.57 131 80 37.91 - - - BUD13 0 genome.wustl.edu 37 11 116633763 116633763 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 116633763 116633763 C T SNP BUD13 ENST00000260210 human ensembl 69_37n -1 known missense c.542 p.R181H 0.959 NULL pfam_Bud13 - no_errors BUD13 HGNC ENSG00000137656 35 0 0.00 8 6 42.86 - - - C16orf59 0 genome.wustl.edu 37 16 2510820 2510820 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 2510820 2510820 G A SNP C16orf59 ENST00000361837 human ensembl 69_37n +1 known missense c.200 p.C67Y 0.002 NULL NULL - no_errors C16orf59 HGNC ENSG00000162062 35 0 0.00 21 8 27.59 - - - C20orf194 0 genome.wustl.edu 37 20 3274894 3274894 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 3274894 3274894 T C SNP C20orf194 ENST00000252032 human ensembl 69_37n -1 known missense c.2129 p.Q710R 1.000 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 68 0 0.00 66 16 19.28 - - - C2orf42 0 genome.wustl.edu 37 2 70377535 70377535 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 70377535 70377535 C G SNP C2orf42 ENST00000264434 human ensembl 69_37n -1 known missense c.1678 p.D560H 0.988 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 50 0 0.00 31 14 31.11 - - - C7orf61 0 genome.wustl.edu 37 7 100054424 100054425 + Frame_Shift_Ins INS - - G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 100054424 100054425 - G INS C7orf61 ENST00000332375 human ensembl 69_37n -1 known frame_shift_ins c.572_571 p.R191fs 0.001:0.050 NULL NULL - no_errors C7orf61 HGNC ENSG00000185955 68 0 0.00 19 6 24.00 - - - C7orf63 0 genome.wustl.edu 37 7 89933286 89933287 + Frame_Shift_Ins INS - - A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 89933286 89933287 - A INS C7orf63 ENST00000389297 human ensembl 69_37n +1 known frame_shift_ins c.2054_2055 p.P688fs 1.000:1.000 NULL superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 83 0 0.00 90 39 30.23 - - - C9orf174 0 genome.wustl.edu 37 9 100056342 100056342 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 100056342 100056342 C T SNP C9orf174 ENST00000357054 human ensembl 69_37n +1 known missense c.200 p.A67V 0.997 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 79 0 0.00 57 29 33.72 - - - C9orf84 0 genome.wustl.edu 37 9 114548233 114548233 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 114548233 114548233 A G SNP C9orf84 ENST00000374283 human ensembl 69_37n -1 known missense c.128 p.V43A 0.000 NULL NULL - no_errors C9orf84 HGNC ENSG00000165181 120 0 0.00 82 46 35.94 - - - CA9 0 genome.wustl.edu 37 9 35679912 35679912 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 35679912 35679912 G A SNP CA9 ENST00000378357 human ensembl 69_37n +1 known missense c.1127 p.R376Q 0.944 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA9 HGNC ENSG00000107159 120 0 0.00 94 43 31.16 - - - CACNA1D 0 genome.wustl.edu 37 3 53769442 53769442 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 53769442 53769442 T C SNP CACNA1D ENST00000288139 human ensembl 69_37n +1 known missense c.2723 p.F908S 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 61 0 0.00 33 7 17.50 - - - CACNA1S 0 genome.wustl.edu 37 1 201028335 201028335 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 201028335 201028335 G A SNP CACNA1S ENST00000362061 human ensembl 69_37n -1 known silent c.3507 p.L1169 0.999 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 87 0 0.00 93 34 26.77 - - - CACNA2D2 0 genome.wustl.edu 37 3 50418195 50418195 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 50418195 50418195 C T SNP CACNA2D2 ENST00000435965 human ensembl 69_37n -1 known missense c.826 p.V276I 1.000 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 80 0 0.00 10 17 62.96 - - - CADPS2 0 genome.wustl.edu 37 7 121985736 121985736 + Splice_Site SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 121985736 121985736 C G SNP CADPS2 ENST00000449022 human ensembl 69_37n -1 known splice_site c.3505-1 e28-1 1.000 - - - no_errors CADPS2 HGNC ENSG00000081803 117 0 0.00 129 74 36.45 - - - CADPS2 0 genome.wustl.edu 37 7 122111514 122111514 + Nonsense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 122111514 122111514 C A SNP CADPS2 ENST00000449022 human ensembl 69_37n -1 known nonsense c.2101 p.E701* 1.000 NULL pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 115 0 0.00 87 47 35.07 - - - CALR3 0 genome.wustl.edu 37 19 16601239 16601239 + Silent SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 16601239 16601239 G C SNP CALR3 ENST00000269881 human ensembl 69_37n -1 known silent c.336 p.V112 0.823 pfam_Calret/calnex,superfamily_ConA-like_lec_gl,pirsf_Calreticulin,prints_Calret/calnex pfam_Calret/calnex,superfamily_ConA-like_lec_gl,superfamily_Calreticulin/calnexin_P,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR3 HGNC ENSG00000141979 140 0 0.00 85 56 39.72 - - - CAPN1 0 genome.wustl.edu 37 11 64973987 64973987 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 64973987 64973987 G A SNP CAPN1 ENST00000279247 human ensembl 69_37n +1 known silent c.1407 p.A469 0.005 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 41 0 0.00 7 11 61.11 - - - CAPN10 0 genome.wustl.edu 37 2 241531440 241531440 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 241531440 241531440 G A SNP CAPN10 ENST00000270361 human ensembl 69_37n +1 known missense c.550 p.E184K 1.000 smart_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN10 HGNC ENSG00000142330 34 0 0.00 11 6 35.29 - - - CAPN8 0 genome.wustl.edu 37 1 223722911 223722911 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 223722911 223722911 C G SNP CAPN8 ENST00000366872 human ensembl 69_37n -1 known missense c.1481 p.R494T 0.000 smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 29 0 0.00 19 10 34.48 - - - CAPZA2 0 genome.wustl.edu 37 7 116557789 116557789 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 116557789 116557789 C T SNP CAPZA2 ENST00000361183 human ensembl 69_37n +1 known silent c.729 p.I243 1.000 pfam_WASH_F-actin_cap_alpha pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha - no_errors CAPZA2 HGNC ENSG00000198898 98 0 0.00 75 46 38.02 - - - CASP1 0 genome.wustl.edu 37 11 104905104 104905104 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 104905104 104905104 C T SNP CASP1 ENST00000436863 human ensembl 69_37n -1 known silent c.105 p.L35 0.992 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 291 0 0.00 129 162 55.67 - - - CASS4 0 genome.wustl.edu 37 20 55027016 55027016 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 55027016 55027016 A G SNP CASS4 ENST00000360314 human ensembl 69_37n +1 known missense c.784 p.S262G 0.000 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 72 0 0.00 45 30 40.00 - - - CATSPERG 0 genome.wustl.edu 37 19 38853115 38853115 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 38853115 38853115 G A SNP CATSPERG ENST00000409235 human ensembl 69_37n +1 known missense c.2257 p.E753K 0.000 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 31 0 0.00 38 10 20.83 - - - CCDC148 0 genome.wustl.edu 37 2 159201816 159201816 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 159201816 159201816 C T SNP CCDC148 ENST00000283233 human ensembl 69_37n -1 known missense c.162 p.M54I 0.273 NULL NULL - no_errors CCDC148 HGNC ENSG00000153237 217 0 0.00 163 86 34.54 - - - CCDC173 0 genome.wustl.edu 37 2 170505788 170505788 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 170505788 170505788 C T SNP CCDC173 ENST00000447353 human ensembl 69_37n -1 known missense c.1221 p.M407I 0.017 NULL NULL - no_errors CCDC173 HGNC ENSG00000154479 198 0 0.00 196 100 33.78 - - - CCDC173 0 genome.wustl.edu 37 2 170537638 170537638 + Missense_Mutation SNP A A T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 170537638 170537638 A T SNP CCDC173 ENST00000447353 human ensembl 69_37n -1 known missense c.173 p.I58N 1.000 NULL NULL - no_errors CCDC173 HGNC ENSG00000154479 165 0 0.00 148 34 18.68 - - - CCDC92 0 genome.wustl.edu 37 12 124421638 124421638 + Silent SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 124421638 124421638 C G SNP CCDC92 ENST00000238156 human ensembl 69_37n -1 known silent c.963 p.V321 0.913 NULL NULL - no_errors CCDC92 HGNC ENSG00000119242 52 0 0.00 21 11 34.38 - - - CCNT1 0 genome.wustl.edu 37 12 49087736 49087736 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 49087736 49087736 C T SNP CCNT1 ENST00000261900 human ensembl 69_37n -1 known missense c.1261 p.A421T 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 116 0 0.00 111 27 19.57 - - - CCT6B 0 genome.wustl.edu 37 17 33259455 33259455 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 33259455 33259455 C T SNP CCT6B ENST00000314144 human ensembl 69_37n -1 known silent c.1278 p.K426 0.998 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 109 0 0.00 36 51 58.62 - - - CCZ1B 0 genome.wustl.edu 37 7 6859417 6859417 + Silent SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 6859417 6859417 G T SNP CCZ1B ENST00000316731 human ensembl 69_37n -1 known silent c.678 p.L226 1.000 pfam_DUF1712_fun pfam_DUF1712_fun - no_errors CCZ1B HGNC ENSG00000146574 39 0 0.00 31 30 49.18 - - - CD1B 0 genome.wustl.edu 37 1 158299647 158299647 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 158299647 158299647 C A SNP CD1B ENST00000368168 human ensembl 69_37n -1 known missense c.602 p.R201I 0.395 superfamily_MHC_I/II-like_Ag-recog,pfscan_Ig-like pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1B HGNC ENSG00000158485 33 0 0.00 30 11 26.83 - - - CD96 0 genome.wustl.edu 37 3 111286411 111286411 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 111286411 111286411 G A SNP CD96 ENST00000283285 human ensembl 69_37n +1 known missense c.460 p.E154K 0.425 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like - no_errors CD96 HGNC ENSG00000153283 107 0 0.00 33 38 53.52 - - - CDC27 0 genome.wustl.edu 37 17 45214547 45214547 + Nonsense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 45214547 45214547 G A SNP CDC27 ENST00000571643 human ensembl 69_37n -1 putative nonsense c.64 p.Q22* 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CDC27 HGNC ENSG00000004897 82 0 0.00 92 22 19.30 - - - CDH26 0 genome.wustl.edu 37 20 58559719 58559719 + Silent SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 58559719 58559719 A G SNP CDH26 ENST00000244047 human ensembl 69_37n +1 known silent c.567 p.A189 0.066 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 112 0 0.00 109 32 22.70 - - - CDH4 0 genome.wustl.edu 37 20 60485542 60485542 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 60485542 60485542 G A SNP CDH4 ENST00000360469 human ensembl 69_37n +1 known missense c.1253 p.R418Q 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH4 HGNC ENSG00000179242 62 0 0.00 41 24 36.92 - - - CDK15 0 genome.wustl.edu 37 2 202712166 202712166 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 202712166 202712166 A G SNP CDK15 ENST00000374598 human ensembl 69_37n +1 known missense c.914 p.N305S 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 CDK15 HGNC ENSG00000138395 147 1 0.68 174 35 16.75 - - - CDK5RAP2 0 genome.wustl.edu 37 9 123298718 123298718 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 123298718 123298718 C T SNP CDK5RAP2 ENST00000349780 human ensembl 69_37n -1 known silent c.594 p.K198 1.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 111 0 0.00 70 42 37.50 - - - CDK6 0 genome.wustl.edu 37 7 92404027 92404027 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 92404027 92404027 G A SNP CDK6 ENST00000265734 human ensembl 69_37n -1 known missense c.352 p.P118S 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 CDK6 HGNC ENSG00000105810 114 0 0.00 91 42 31.58 - - - CDO1 0 genome.wustl.edu 37 5 115146973 115146973 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 115146973 115146973 C G SNP CDO1 ENST00000250535 human ensembl 69_37n -1 known missense c.288 p.K96N 1.000 pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin - no_errors CDO1 HGNC ENSG00000129596 144 0 0.00 102 69 40.35 - - - CDYL2 0 genome.wustl.edu 37 16 80666970 80666970 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 80666970 80666970 G C SNP CDYL2 ENST00000299564 human ensembl 69_37n -1 known missense c.780 p.F260L 1.000 NULL pfam_Crotonase_core,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 66 0 0.00 22 42 65.62 - - - CEACAM4 0 genome.wustl.edu 37 19 42126606 42126606 + Missense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 42126606 42126606 G T SNP CEACAM4 ENST00000221954 human ensembl 69_37n -1 known missense c.605 p.P202H 0.000 NULL pfam_Ig_V-set,pfscan_Ig-like - no_errors CEACAM4 HGNC ENSG00000105352 113 1 0.88 25 15 37.50 - - - CELF1 0 genome.wustl.edu 37 11 47498973 47498973 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 47498973 47498973 C T SNP CELF1 ENST00000532048 human ensembl 69_37n -1 known silent c.846 p.L282 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF1 HGNC ENSG00000149187 58 0 0.00 43 6 12.24 - - - CELF2 0 genome.wustl.edu 37 10 11356161 11356161 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 11356161 11356161 G C SNP CELF2 ENST00000450189 human ensembl 69_37n +1 known missense c.1036 p.G346R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 136 0 0.00 42 47 52.81 - - - CEP250 0 genome.wustl.edu 37 20 34091186 34091186 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 34091186 34091186 G A SNP CEP250 ENST00000397527 human ensembl 69_37n +1 known silent c.4989 p.Q1663 0.995 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 61 0 0.00 27 17 38.64 - - - CEP41 0 genome.wustl.edu 37 7 130044478 130044478 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 130044478 130044478 C T SNP CEP41 ENST00000223208 human ensembl 69_37n -1 known missense c.349 p.E117K 0.955 superfamily_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors CEP41 HGNC ENSG00000106477 137 0 0.00 94 49 34.27 - - - CHD6 0 genome.wustl.edu 37 20 40033355 40033355 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 40033355 40033355 C T SNP CHD6 ENST00000373233 human ensembl 69_37n -1 known missense c.8026 p.E2676K 0.311 NULL 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 108 0 0.00 28 29 50.88 - - - CHD8 0 genome.wustl.edu 37 14 21869200 21869200 + Nonsense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 21869200 21869200 G A SNP CHD8 ENST00000399982 human ensembl 69_37n -1 known nonsense c.4204 p.R1402* 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 174 0 0.00 170 53 23.77 - - - CHKA 0 genome.wustl.edu 37 11 67833265 67833265 + Silent SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 67833265 67833265 G C SNP CHKA ENST00000265689 human ensembl 69_37n -1 known silent c.1113 p.T371 0.960 pfam_Choline/ethanolamine_kinase,superfamily_Kinase-like_dom pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKA HGNC ENSG00000110721 137 0 0.00 48 64 57.14 - - - CHRNA1 0 genome.wustl.edu 37 2 175619015 175619015 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 175619015 175619015 C G SNP CHRNA1 ENST00000261007 human ensembl 69_37n -1 known missense c.547 p.D183H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_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 - no_errors CHRNA1 HGNC ENSG00000138435 101 0 0.00 66 32 32.65 - - - CHST15 0 genome.wustl.edu 37 10 125804130 125804130 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 125804130 125804130 G A SNP CHST15 ENST00000346248 human ensembl 69_37n -1 known silent c.852 p.I284 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors CHST15 HGNC ENSG00000182022 33 0 0.00 7 10 58.82 - - - CLEC16A 0 genome.wustl.edu 37 16 11063041 11063041 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 11063041 11063041 G A SNP CLEC16A ENST00000409790 human ensembl 69_37n +1 known missense c.367 p.V123I 1.000 pfam_Uncharacterised_FPL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 136 1 0.73 114 60 34.48 - - - CLIC2 0 genome.wustl.edu 37 X 154563718 154563718 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 154563718 154563718 C T SNP CLIC2 ENST00000369449 human ensembl 69_37n -1 known missense c.19 p.G7S 0.003 NULL superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC2 HGNC ENSG00000155962 76 0 0.00 44 32 41.56 - - - CLIC6 0 genome.wustl.edu 37 21 36088701 36088701 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 21 36088701 36088701 G A SNP CLIC6 ENST00000360731 human ensembl 69_37n +1 known missense c.2036 p.R679K 0.992 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC6 HGNC ENSG00000159212 142 0 0.00 56 63 52.94 - - - CLIP1 0 genome.wustl.edu 37 12 122773065 122773065 + Silent SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 122773065 122773065 G C SNP CLIP1 ENST00000540338 human ensembl 69_37n -1 known silent c.3618 p.L1206 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 150 0 0.00 109 47 30.13 - - - CLIP3 0 genome.wustl.edu 37 19 36515355 36515355 + Silent SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 36515355 36515355 G C SNP CLIP3 ENST00000360535 human ensembl 69_37n -1 known silent c.861 p.L287 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 81 0 0.00 18 12 40.00 - - - CLPTM1L 0 genome.wustl.edu 37 5 1335215 1335215 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 1335215 1335215 G C SNP CLPTM1L ENST00000320895 human ensembl 69_37n -1 known missense c.753 p.F251L 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 45 0 0.00 16 5 23.81 - - - CMYA5 0 genome.wustl.edu 37 5 79029944 79029944 + Missense_Mutation SNP A A T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 79029944 79029944 A T SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.5356 p.I1786F 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 56 0 0.00 46 35 43.21 - - - CNGA4 0 genome.wustl.edu 37 11 6260939 6260939 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 6260939 6260939 G A SNP CNGA4 ENST00000379936 human ensembl 69_37n +1 known missense c.190 p.G64S 0.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 112 0 0.00 28 26 48.15 - - - CNOT1 0 genome.wustl.edu 37 16 58570976 58570976 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 58570976 58570976 G C SNP CNOT1 ENST00000317147 human ensembl 69_37n -1 known missense c.5563 p.L1855V 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 82 0 0.00 25 29 53.70 - - - CNOT1 0 genome.wustl.edu 37 16 58576209 58576209 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 58576209 58576209 C T SNP CNOT1 ENST00000317147 human ensembl 69_37n -1 known missense c.4606 p.E1536K 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 82 0 0.00 25 25 50.00 - - - CNOT3 0 genome.wustl.edu 37 19 54647843 54647843 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 54647843 54647843 G A SNP CNOT3 ENST00000447684 human ensembl 69_37n +1 known missense c.115 p.E39K 1.000 pfam_Not_N pfam_Not_N - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CNOT3 HGNC ENSG00000088038 142 0 0.00 80 27 25.23 - - - CNOT4 0 genome.wustl.edu 37 7 135082944 135082944 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 135082944 135082944 C A SNP CNOT4 ENST00000541284 human ensembl 69_37n -1 known missense c.856 p.G286W 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 122 0 0.00 113 59 34.30 - - - COBL 0 genome.wustl.edu 37 7 51261261 51261261 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 51261261 51261261 C T SNP COBL ENST00000395542 human ensembl 69_37n -1 known missense c.271 p.E91K 0.999 pfam_Cordon-bleu_domain pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 96 0 0.00 68 40 37.04 - - - COL20A1 0 genome.wustl.edu 37 20 61929275 61929275 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 61929275 61929275 G A SNP COL20A1 ENST00000326996 human ensembl 69_37n +1 known silent c.96 p.L32 1.000 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 COL20A1 HGNC ENSG00000101203 49 0 0.00 10 10 50.00 - - - COL4A4 0 genome.wustl.edu 37 2 227872982 227872982 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 227872982 227872982 G A SNP COL4A4 ENST00000396625 human ensembl 69_37n -1 known missense c.4561 p.P1521S 1.000 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 67 0 0.00 40 19 32.20 - - - COL5A2 0 genome.wustl.edu 37 2 189957098 189957098 + Missense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 189957098 189957098 G T SNP COL5A2 ENST00000374866 human ensembl 69_37n -1 known missense c.505 p.Q169K 1.000 pfam_Collagen 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 53 0 0.00 29 13 30.95 - - - COQ6 0 genome.wustl.edu 37 14 74422535 74422535 + Missense_Mutation SNP A A T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 74422535 74422535 A T SNP COQ6 ENST00000334571 human ensembl 69_37n +1 known missense c.385 p.I129L 1.000 tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases pfam_mOase_FAD-bd,prints_Rng_hydrolase-like,tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases - no_errors COQ6 HGNC ENSG00000119723 133 0 0.00 126 42 25.00 - - - CORIN 0 genome.wustl.edu 37 4 47605516 47605516 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 47605516 47605516 C T SNP CORIN ENST00000273857 human ensembl 69_37n -1 known missense c.2710 p.E904K 0.996 pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CORIN HGNC ENSG00000145244 100 0 0.00 49 36 42.35 - - - CPA1 0 genome.wustl.edu 37 7 130025744 130025744 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 130025744 130025744 G A SNP CPA1 ENST00000011292 human ensembl 69_37n +1 known missense c.1052 p.G351D 1.000 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 CPA1 HGNC ENSG00000091704 160 0 0.00 91 53 36.55 - - - CPSF1 0 genome.wustl.edu 37 8 145625827 145625827 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 145625827 145625827 C T SNP CPSF1 ENST00000349769 human ensembl 69_37n -1 known silent c.747 p.Q249 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 64 0 0.00 11 13 54.17 - - - CPT1C 0 genome.wustl.edu 37 19 50215134 50215134 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 50215134 50215134 G A SNP CPT1C ENST00000323446 human ensembl 69_37n +1 known missense c.1935 p.M645I 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 86 0 0.00 36 14 28.00 - - - CRB1 0 genome.wustl.edu 37 1 197404570 197404570 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 197404570 197404570 G A SNP CRB1 ENST00000367400 human ensembl 69_37n +1 known missense c.3577 p.D1193N 0.895 pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 99 0 0.00 80 22 21.57 - - - CRHBP 0 genome.wustl.edu 37 5 76251689 76251689 + Splice_Site SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 76251689 76251689 G A SNP CRHBP ENST00000274368 human ensembl 69_37n +1 known splice_site c.544+1 e4+1 1.000 - - - no_errors CRHBP HGNC ENSG00000145708 48 0 0.00 59 25 29.76 - - - CRNKL1 0 genome.wustl.edu 37 20 20026080 20026080 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 20026080 20026080 C G SNP CRNKL1 ENST00000377340 human ensembl 69_37n -1 known missense c.1156 p.E386Q 1.000 pfam_HAT,smart_HAT pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 119 0 0.00 120 52 30.23 - - - CROCCP2 0 genome.wustl.edu 37 1 16950932 16950932 + RNA SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 16950932 16950932 C T SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.992 - - - no_errors CROCCP2 HGNC ENSG00000215908 22 0 0.00 8 4 33.33 - - - CSE1L 0 genome.wustl.edu 37 20 47701911 47701911 + Missense_Mutation SNP T T G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 47701911 47701911 T G SNP CSE1L ENST00000262982 human ensembl 69_37n +1 known missense c.1711 p.Y571D 1.000 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 100 0 0.00 92 26 22.03 - - - CSPP1 0 genome.wustl.edu 37 8 68087602 68087602 + Nonsense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 68087602 68087602 C T SNP CSPP1 ENST00000262210 human ensembl 69_37n +1 known nonsense c.3025 p.Q1009* 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 85 0 0.00 35 24 40.68 - - - CSRP2BP 0 genome.wustl.edu 37 20 18123319 18123319 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 18123319 18123319 C G SNP CSRP2BP ENST00000278816 human ensembl 69_37n +1 known missense c.15 p.I5M 0.970 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 40 0 0.00 22 20 47.62 - - - CTAGE9 0 genome.wustl.edu 37 6 132031204 132031204 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 132031204 132031204 C T SNP CTAGE9 ENST00000314099 human ensembl 69_37n -1 known silent c.954 p.L318 0.000 NULL NULL - no_errors CTAGE9 HGNC ENSG00000236761 122 0 0.00 65 143 68.75 - - - CTIF 0 genome.wustl.edu 37 18 46163043 46163043 + Frame_Shift_Del DEL C C - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 46163043 46163043 C - DEL CTIF ENST00000382998 human ensembl 69_37n +1 known frame_shift_del c.239 p.P82fs 0.778 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 32 0 0.00 7 8 53.33 - - - CTRC 0 genome.wustl.edu 37 1 15771218 15771218 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 15771218 15771218 G A SNP CTRC ENST00000375949 human ensembl 69_37n +1 known missense c.611 p.G204E 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,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors CTRC HGNC ENSG00000162438 90 0 0.00 15 26 63.41 - - - CTSS 0 genome.wustl.edu 37 1 150722569 150722569 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 150722569 150722569 C G SNP CTSS ENST00000368985 human ensembl 69_37n -1 known missense c.706 p.D236H 0.962 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSS HGNC ENSG00000163131 108 0 0.00 48 31 39.24 - - - CTSS 0 genome.wustl.edu 37 1 150724445 150724445 + Frame_Shift_Del DEL C C - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 150724445 150724445 C - DEL CTSS ENST00000368985 human ensembl 69_37n -1 known frame_shift_del c.439 p.A147fs 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSS HGNC ENSG00000163131 88 0 0.00 70 33 31.73 - - - CTTNBP2NL 0 genome.wustl.edu 37 1 113000008 113000008 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 113000008 113000008 G C SNP CTTNBP2NL ENST00000271277 human ensembl 69_37n +1 known missense c.1894 p.E632Q 0.999 NULL pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC ENSG00000143079 37 0 0.00 7 16 69.57 - - - CUX1 0 genome.wustl.edu 37 7 101758493 101758493 + Frame_Shift_Del DEL A A - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 101758493 101758493 A - DEL CUX1 ENST00000360264 human ensembl 69_37n +1 known frame_shift_del c.647 p.T218fs 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 87 0 0.00 62 28 30.77 - - - CWF19L2 0 genome.wustl.edu 37 11 107219706 107219706 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 107219706 107219706 C G SNP CWF19L2 ENST00000282251 human ensembl 69_37n -1 known missense c.2159 p.R720T 0.970 pfam_Cwf19-like_C_dom-1,superfamily_HIT-like pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 86 0 0.00 34 31 47.69 - - - CXXC11 0 genome.wustl.edu 37 2 242811980 242811980 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 242811980 242811980 C T SNP CXXC11 ENST00000343216 human ensembl 69_37n +1 known silent c.72 p.D24 0.049 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 34 0 0.00 18 6 25.00 - - - CXorf22 0 genome.wustl.edu 37 X 35993898 35993898 + Nonsense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 35993898 35993898 C T SNP CXorf22 ENST00000297866 human ensembl 69_37n +1 known nonsense c.2581 p.R861* 0.291 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 88 0 0.00 30 46 60.53 - - - CYB5D2 0 genome.wustl.edu 37 17 4053207 4053207 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 4053207 4053207 C T SNP CYB5D2 ENST00000301391 human ensembl 69_37n +1 known silent c.273 p.F91 0.992 pfam_Cyt_B5,superfamily_Cyt_B5 pfam_Cyt_B5,superfamily_Cyt_B5 - no_errors CYB5D2 HGNC ENSG00000167740 81 0 0.00 48 8 14.29 - - - CYFIP1 0 genome.wustl.edu 37 15 22926026 22926026 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 22926026 22926026 C T SNP CYFIP1 ENST00000313077 human ensembl 69_37n +1 known silent c.168 p.I56 0.993 pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 118 1 0.84 37 39 51.32 - - - CYP2D6 0 genome.wustl.edu 37 22 42524214 42524214 + Frame_Shift_Del DEL G G - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 22 42524214 42524214 G - DEL CYP2D6 ENST00000360608 human ensembl 69_37n -1 known frame_shift_del c.805 p.R269fs 0.947 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 70 0 0.00 13 9 37.50 - - - CYP4X1 0 genome.wustl.edu 37 1 47501732 47501732 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 47501732 47501732 A G SNP CYP4X1 ENST00000371901 human ensembl 69_37n +1 known missense c.664 p.I222V 0.891 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 CYP4X1 HGNC ENSG00000186377 121 0 0.00 59 42 41.58 - - - DAAM1 0 genome.wustl.edu 37 14 59789941 59789941 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 59789941 59789941 C G SNP DAAM1 ENST00000351081 human ensembl 69_37n +1 known missense c.772 p.Q258E 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,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC ENSG00000100592 14 0 0.00 17 12 41.38 - - - DAAM1 0 genome.wustl.edu 37 14 59792700 59792700 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 59792700 59792700 C T SNP DAAM1 ENST00000351081 human ensembl 69_37n +1 known missense c.1079 p.A360V 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,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC ENSG00000100592 102 0 0.00 72 39 35.14 - - - DBC1 0 genome.wustl.edu 37 9 121976415 121976415 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 121976415 121976415 G A SNP DBC1 ENST00000265922 human ensembl 69_37n -1 known missense c.704 p.P235L 1.000 smart_MACPF pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 57 0 0.00 49 27 35.53 - - - DCDC5 0 genome.wustl.edu 37 11 30937125 30937125 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 30937125 30937125 C G SNP DCDC5 ENST00000339794 human ensembl 69_37n -1 known missense c.823 p.E275Q 0.935 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC5 HGNC ENSG00000170959 121 0 0.00 46 49 51.58 - - - DCHS1 0 genome.wustl.edu 37 11 6661920 6661920 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 6661920 6661920 C T SNP DCHS1 ENST00000299441 human ensembl 69_37n -1 known missense c.925 p.A309T 0.149 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 61 0 0.00 25 12 32.43 - - - DCST2 0 genome.wustl.edu 37 1 155001812 155001812 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 155001812 155001812 G C SNP DCST2 ENST00000368424 human ensembl 69_37n -1 known missense c.1239 p.I413M 0.064 pfam_DC_STAMP-like pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 44 0 0.00 54 28 34.15 - - - DDX23 0 genome.wustl.edu 37 12 49230685 49230685 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 49230685 49230685 C T SNP DDX23 ENST00000308025 human ensembl 69_37n -1 known silent c.1002 p.E334 1.000 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 DDX23 HGNC ENSG00000174243 140 0 0.00 78 45 36.59 - - - DDX31 0 genome.wustl.edu 37 9 135534114 135534114 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 135534114 135534114 G C SNP DDX31 ENST00000372159 human ensembl 69_37n -1 known missense c.847 p.L283V 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_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 126 0 0.00 83 43 34.13 - - - DDX60 0 genome.wustl.edu 37 4 169195233 169195233 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 169195233 169195233 C T SNP DDX60 ENST00000393743 human ensembl 69_37n -1 known missense c.2306 p.R769Q 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 86 0 0.00 36 43 54.43 - - - DDX60 0 genome.wustl.edu 37 4 169206004 169206004 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 169206004 169206004 C G SNP DDX60 ENST00000393743 human ensembl 69_37n -1 known missense c.1528 p.D510H 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 98 0 0.00 35 41 53.25 - - - DENND4B 0 genome.wustl.edu 37 1 153914454 153914454 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 153914454 153914454 G A SNP DENND4B ENST00000361217 human ensembl 69_37n -1 known missense c.946 p.R316C 0.867 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 37 0 0.00 7 6 46.15 - - - DFNB31 0 genome.wustl.edu 37 9 117228550 117228550 + Silent SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 117228550 117228550 G C SNP DFNB31 ENST00000362057 human ensembl 69_37n -1 known silent c.960 p.L320 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 57 0 0.00 25 13 34.21 - - - DGKD 0 genome.wustl.edu 37 2 234359584 234359584 + Nonsense_Mutation SNP T T A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 234359584 234359584 T A SNP DGKD ENST00000264057 human ensembl 69_37n +1 known nonsense c.2055 p.C685* 0.998 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,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 DGKD HGNC ENSG00000077044 101 0 0.00 42 28 40.00 - - - DGUOK 0 genome.wustl.edu 37 2 74177789 74177789 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 74177789 74177789 C G SNP DGUOK ENST00000264093 human ensembl 69_37n +1 known missense c.521 p.S174C 0.973 pfam_Deoxynucleoside_kinase pfam_Deoxynucleoside_kinase - no_errors DGUOK HGNC ENSG00000114956 144 0 0.00 149 49 24.75 - - - DHRSX 0 genome.wustl.edu 37 X 2343248 2343248 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 2343248 2343248 A G SNP DHRSX ENST00000478825 human ensembl 69_37n -1 known missense c.377 p.M126T 0.995 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DHRSX HGNC ENSG00000169084 193 0 0.00 86 55 39.01 - - - DHTKD1 0 genome.wustl.edu 37 10 12126594 12126594 + Silent SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 12126594 12126594 C G SNP DHTKD1 ENST00000263035 human ensembl 69_37n +1 known silent c.366 p.L122 0.998 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 82 0 0.00 36 21 36.84 - - - DHX29 0 genome.wustl.edu 37 5 54579162 54579162 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 54579162 54579162 C G SNP DHX29 ENST00000251636 human ensembl 69_37n -1 known missense c.1834 p.D612H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 81 0 0.00 77 27 25.96 - - - DHX57 0 genome.wustl.edu 37 2 39081307 39081307 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 39081307 39081307 C T SNP DHX57 ENST00000295373 human ensembl 69_37n -1 known missense c.1919 p.R640K 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 87 0 0.00 78 45 36.59 - - - DHX57 0 genome.wustl.edu 37 2 39082249 39082249 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 39082249 39082249 C T SNP DHX57 ENST00000295373 human ensembl 69_37n -1 known missense c.1855 p.E619K 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 132 0 0.00 78 48 38.10 - - - DHX57 0 genome.wustl.edu 37 2 39083579 39083579 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 39083579 39083579 G A SNP DHX57 ENST00000295373 human ensembl 69_37n -1 known silent c.1612 p.L538 1.000 NULL pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 76 0 0.00 54 18 25.00 - - - DHX57 0 genome.wustl.edu 37 2 39088557 39088557 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 39088557 39088557 C T SNP DHX57 ENST00000295373 human ensembl 69_37n -1 known missense c.995 p.G332E 0.031 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 88 0 0.00 83 41 33.06 - - - DLGAP2 0 genome.wustl.edu 37 8 1497432 1497432 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 1497432 1497432 C T SNP DLGAP2 ENST00000520901 human ensembl 69_37n +1 known missense c.623 p.T208M 0.002 NULL pfam_GKAP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DLGAP2 HGNC ENSG00000198010 13 0 0.00 5 4 44.44 - - - DMAP1 0 genome.wustl.edu 37 1 44684860 44684860 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 44684860 44684860 G A SNP DMAP1 ENST00000315913 human ensembl 69_37n +1 known missense c.853 p.E285K 0.998 pfam_DMAP1 pfam_DMAP1,superfamily_Homeodomain-like - no_errors DMAP1 HGNC ENSG00000178028 32 0 0.00 5 7 58.33 - - - DMGDH 0 genome.wustl.edu 37 5 78351683 78351683 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 78351683 78351683 G A SNP DMGDH ENST00000255189 human ensembl 69_37n -1 known missense c.325 p.H109Y 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 129 0 0.00 149 66 30.70 - - - DMXL1 0 genome.wustl.edu 37 5 118479553 118479553 + Silent SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 118479553 118479553 C G SNP DMXL1 ENST00000539542 human ensembl 69_37n +1 known silent c.2394 p.V798 0.966 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 104 0 0.00 88 42 32.31 - - - DNAH10 0 genome.wustl.edu 37 12 124398954 124398954 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 124398954 124398954 C T SNP DNAH10 ENST00000540041 human ensembl 69_37n +1 putative missense c.860 p.S287L 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DNAH10 HGNC ENSG00000197653 48 0 0.00 39 15 27.78 - - - DNAH11 0 genome.wustl.edu 37 7 21847542 21847542 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 21847542 21847542 C G SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known missense c.10228 p.Q3410E 1.000 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 83 0 0.00 62 40 39.22 - - - DNAH7 0 genome.wustl.edu 37 2 196636482 196636482 + Nonsense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 196636482 196636482 G A SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known nonsense c.11335 p.Q3779* 1.000 pfam_Dynein_heavy 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 203 0 0.00 178 78 30.47 - - - DNAJB14 0 genome.wustl.edu 37 4 100867604 100867604 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 100867604 100867604 G A SNP DNAJB14 ENST00000442697 human ensembl 69_37n -1 known missense c.125 p.S42L 0.984 NULL pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB14 HGNC ENSG00000164031 65 0 0.00 29 39 57.35 - - - DNAJC10 0 genome.wustl.edu 37 2 183624001 183624001 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 183624001 183624001 G A SNP DNAJC10 ENST00000264065 human ensembl 69_37n +1 known silent c.2112 p.Q704 0.960 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C,prints_Thioredoxin pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,prints_Hsp_DnaJ,prints_Thioredoxin,pfscan_DnaJ_N - no_errors DNAJC10 HGNC ENSG00000077232 157 0 0.00 118 69 36.90 - - - DNASE1L3 0 genome.wustl.edu 37 3 58183604 58183604 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 58183604 58183604 C T SNP DNASE1L3 ENST00000318316 human ensembl 69_37n -1 known silent c.648 p.L216 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk - no_errors DNASE1L3 HGNC ENSG00000163687 138 0 0.00 35 56 61.54 - - - DNMT3A 0 genome.wustl.edu 37 2 25523047 25523047 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 25523047 25523047 C T SNP DNMT3A ENST00000264709 human ensembl 69_37n -1 known silent c.138 p.R46 0.999 NULL pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP - no_errors DNMT3A HGNC ENSG00000119772 71 0 0.00 47 16 25.40 - - - DOCK9 0 genome.wustl.edu 37 13 99508157 99508157 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 13 99508157 99508157 C A SNP DOCK9 ENST00000339416 human ensembl 69_37n -1 known missense c.3829 p.D1277Y 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 142 0 0.00 63 41 39.42 - - - DPY19L2 0 genome.wustl.edu 37 12 63963127 63963127 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 63963127 63963127 G C SNP DPY19L2 ENST00000324472 human ensembl 69_37n -1 known missense c.2003 p.A668G 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 101 0 0.00 84 40 32.26 - - - DQX1 0 genome.wustl.edu 37 2 74752197 74752197 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 74752197 74752197 C A SNP DQX1 ENST00000393951 human ensembl 69_37n -1 known missense c.370 p.G124C 1.000 smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 52 0 0.00 14 9 39.13 - - - DTX4 0 genome.wustl.edu 37 11 58972164 58972164 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 58972164 58972164 C T SNP DTX4 ENST00000227451 human ensembl 69_37n +1 known missense c.1642 p.L548F 1.000 NULL pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 122 0 0.00 47 49 51.04 - - - DYNC1H1 0 genome.wustl.edu 37 14 102500780 102500780 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 102500780 102500780 G A SNP DYNC1H1 ENST00000360184 human ensembl 69_37n +1 known missense c.10745 p.R3582Q 0.927 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 74 0 0.00 46 22 32.35 - - - DYNC2H1 0 genome.wustl.edu 37 11 103004288 103004288 + Nonsense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 103004288 103004288 C G SNP DYNC2H1 ENST00000398093 human ensembl 69_37n +1 known nonsense c.1958 p.S653* 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 53 0 0.00 19 27 58.70 - - - EFHC1 0 genome.wustl.edu 37 6 52317651 52317651 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 52317651 52317651 A G SNP EFHC1 ENST00000480623 human ensembl 69_37n +1 known missense c.739 p.T247A 0.001 NULL pfam_DUF1126,smart_Uncharacterised_DM10 - no_errors EFHC1 HGNC ENSG00000096093 106 0 0.00 87 28 24.35 - - - EHD4 0 genome.wustl.edu 37 15 42192996 42192996 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 42192996 42192996 G A SNP EHD4 ENST00000220325 human ensembl 69_37n -1 known silent c.1473 p.A491 0.387 smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD4 HGNC ENSG00000103966 44 0 0.00 17 17 48.57 - - - EIF5B 0 genome.wustl.edu 37 2 100013281 100013281 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 100013281 100013281 C G SNP EIF5B ENST00000289371 human ensembl 69_37n +1 known missense c.3313 p.R1105G 1.000 superfamily_Transl_elong_init/rib_B-barrel pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 83 0 0.00 70 31 30.69 - - - ELTD1 0 genome.wustl.edu 37 1 79403912 79403912 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 79403912 79403912 G A SNP ELTD1 ENST00000370742 human ensembl 69_37n -1 known missense c.449 p.S150F 0.741 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 73 0 0.00 33 44 57.14 - - - EML4 0 genome.wustl.edu 37 2 42530295 42530295 + Nonsense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 42530295 42530295 C T SNP EML4 ENST00000318522 human ensembl 69_37n +1 known nonsense c.1693 p.Q565* 1.000 superfamily_Quinonprotein_ADH-like pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 130 0 0.00 130 68 34.34 - - - EML6 0 genome.wustl.edu 37 2 55197473 55197473 + RNA SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 55197473 55197473 G C SNP EML6 ENST00000481376 human ensembl 69_37n +1 known rna NULL NULL 0.827 - - - no_errors EML6 HGNC ENSG00000214595 12 0 0.00 11 5 31.25 - - - ENAH 0 genome.wustl.edu 37 1 225707007 225707007 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 225707007 225707007 C T SNP ENAH ENST00000366844 human ensembl 69_37n -1 known missense c.695 p.R232Q 0.988 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000154380 290 0 0.00 356 112 23.93 - - - ENAH 0 genome.wustl.edu 37 1 225707048 225707048 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 225707048 225707048 C T SNP ENAH ENST00000366844 human ensembl 69_37n -1 known silent c.654 p.R218 0.909 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000154380 199 0 0.00 286 98 25.52 - - - ENAH 0 genome.wustl.edu 37 1 225707117 225707118 + Frame_Shift_Del DEL TC TC - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 225707117 225707118 TC - DEL ENAH ENST00000366844 human ensembl 69_37n -1 known frame_shift_del c.585_584 p.R195fs 0.964:0.991 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000154380 269 1 0.37 365 90 19.74 - - - ENSG00000233389 0 genome.wustl.edu 37 7 99999515 99999515 + Splice_Site SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 99999515 99999515 G A SNP ENSG00000233389 ENST00000449355 human ensembl 69_37n +1 known splice_site c.234-1 e2-1 0.969 - - - no_errors AC005071.2 Clone_based_ensembl_gene ENSG00000233389 96 0 0.00 67 33 33.00 - - - ENSG00000237240 0 genome.wustl.edu 37 12 6955960 6955960 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 6955960 6955960 C T SNP ENSG00000237240 ENST00000422785 human ensembl 69_37n -1 novel missense c.652 p.D218N 0.999 NULL NULL - no_errors U47924.25 Clone_based_vega_gene ENSG00000237240 59 0 0.00 30 10 25.00 - - - EP400 0 genome.wustl.edu 37 12 132490757 132490757 + Missense_Mutation SNP T T A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 132490757 132490757 T A SNP EP400 ENST00000333577 human ensembl 69_37n +1 known missense c.3144 p.N1048K 0.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 85 0 0.00 51 24 32.00 - - - EPB41L2 0 genome.wustl.edu 37 6 131222189 131222189 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 131222189 131222189 C T SNP EPB41L2 ENST00000337057 human ensembl 69_37n -1 known missense c.1061 p.G354D 0.971 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 121 0 0.00 38 86 69.35 - - - EPHA8 0 genome.wustl.edu 37 1 22924193 22924193 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 22924193 22924193 G A SNP EPHA8 ENST00000166244 human ensembl 69_37n +1 known missense c.1955 p.G652E 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_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 EPHA8 HGNC ENSG00000070886 24 0 0.00 4 5 55.56 - - - ERBB2IP 0 genome.wustl.edu 37 5 65321315 65321315 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 65321315 65321315 G A SNP ERBB2IP ENST00000284037 human ensembl 69_37n +1 known silent c.825 p.L275 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 ERBB2IP HGNC ENSG00000112851 179 0 0.00 153 70 31.39 - - - ERBB2IP 0 genome.wustl.edu 37 5 65321692 65321692 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 65321692 65321692 G C SNP ERBB2IP ENST00000284037 human ensembl 69_37n +1 known missense c.907 p.E303Q 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 77 0 0.00 60 40 40.00 - - - ERBB2IP 0 genome.wustl.edu 37 5 65349777 65349777 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 65349777 65349777 G C SNP ERBB2IP ENST00000284037 human ensembl 69_37n +1 known missense c.2631 p.E877D 0.700 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 30 0 0.00 34 26 43.33 - - - ERBB2IP 0 genome.wustl.edu 37 5 65350195 65350195 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 65350195 65350195 G A SNP ERBB2IP ENST00000284037 human ensembl 69_37n +1 known missense c.3049 p.E1017K 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 51 0 0.00 27 26 49.06 - - - ERBB2IP 0 genome.wustl.edu 37 5 65350414 65350414 + Missense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 65350414 65350414 G T SNP ERBB2IP ENST00000284037 human ensembl 69_37n +1 known missense c.3268 p.D1090Y 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 97 0 0.00 46 36 43.90 - - - ERBB2IP 0 genome.wustl.edu 37 5 65371041 65371041 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 65371041 65371041 G A SNP ERBB2IP ENST00000284037 human ensembl 69_37n +1 known missense c.3946 p.E1316K 1.000 superfamily_PDZ pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 62 0 0.00 37 22 37.29 - - - ERBB4 0 genome.wustl.edu 37 2 212578306 212578306 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 212578306 212578306 T C SNP ERBB4 ENST00000260943 human ensembl 69_37n -1 novel missense c.950 p.K317R 1.000 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,superfamily_Kinase-like_dom,smart_Furin_repeat - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ERBB4 HGNC ENSG00000178568 124 0 0.00 131 41 23.84 - - - ESR1 0 genome.wustl.edu 37 6 152265369 152265369 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 152265369 152265369 G A SNP ESR1 ENST00000427531 human ensembl 69_37n +1 putative missense c.536 p.G179E 0.998 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Oestr_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ESR1 HGNC ENSG00000091831 76 0 0.00 13 36 73.47 - - - ESR2 0 genome.wustl.edu 37 14 64746795 64746795 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 64746795 64746795 G A SNP ESR2 ENST00000341099 human ensembl 69_37n -1 known missense c.439 p.H147Y 1.000 smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors ESR2 HGNC ENSG00000140009 56 0 0.00 67 36 34.95 - - - F2RL2 0 genome.wustl.edu 37 5 75913971 75913971 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 75913971 75913971 G C SNP F2RL2 ENST00000296641 human ensembl 69_37n -1 known missense c.561 p.I187M 1.000 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Prot_act_rcpt_3,prints_7TM_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors F2RL2 HGNC ENSG00000164220 32 0 0.00 25 25 50.00 - - - FAM111A 0 genome.wustl.edu 37 11 58919838 58919838 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 58919838 58919838 T C SNP FAM111A ENST00000361723 human ensembl 69_37n +1 known missense c.697 p.S233P 0.000 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC ENSG00000166801 80 0 0.00 36 44 55.00 - - - FAM13C 0 genome.wustl.edu 37 10 61115683 61115683 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 61115683 61115683 G A SNP FAM13C ENST00000373868 human ensembl 69_37n -1 known missense c.83 p.S28F 0.989 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 87 0 0.00 23 17 42.50 - - - FAM160A1 0 genome.wustl.edu 37 4 152498704 152498704 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 152498704 152498704 C T SNP FAM160A1 ENST00000435205 human ensembl 69_37n +1 known missense c.208 p.H70Y 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A1 HGNC ENSG00000164142 76 0 0.00 59 9 13.24 - - - FAM169A 0 genome.wustl.edu 37 5 74130403 74130403 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 74130403 74130403 C G SNP FAM169A ENST00000389156 human ensembl 69_37n -1 known missense c.338 p.R113T 1.000 NULL NULL - no_errors FAM169A HGNC ENSG00000198780 59 0 0.00 51 29 36.25 - - - FAM177B 0 genome.wustl.edu 37 1 222920391 222920391 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 222920391 222920391 G C SNP FAM177B ENST00000360827 human ensembl 69_37n +1 known missense c.209 p.W70S 1.000 NULL NULL - no_errors FAM177B HGNC ENSG00000197520 144 0 0.00 162 63 28.00 - - - FAM186A 0 genome.wustl.edu 37 12 50748541 50748541 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 50748541 50748541 C G SNP FAM186A ENST00000327337 human ensembl 69_37n -1 known missense c.2074 p.D692H 0.011 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 53 0 0.00 59 36 37.89 - - - FAM217B 0 genome.wustl.edu 37 20 58519120 58519120 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 58519120 58519120 C A SNP FAM217B ENST00000358293 human ensembl 69_37n +1 known missense c.122 p.T41N 0.003 NULL NULL - no_errors FAM217B HGNC ENSG00000196227 46 0 0.00 25 21 45.65 - - - FAM22F 0 genome.wustl.edu 37 9 97080989 97080989 + Nonsense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 97080989 97080989 G A SNP FAM22F ENST00000253262 human ensembl 69_37n -1 known nonsense c.2029 p.Q677* 0.000 NULL NULL - no_errors FAM22F HGNC ENSG00000130950 131 0 0.00 80 43 34.96 - - - FAM22F 0 genome.wustl.edu 37 9 97088185 97088185 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 97088185 97088185 C T SNP FAM22F ENST00000253262 human ensembl 69_37n -1 known silent c.48 p.V16 0.002 NULL NULL - no_errors FAM22F HGNC ENSG00000130950 62 0 0.00 29 21 42.00 - - - FAM47A 0 genome.wustl.edu 37 X 34149897 34149897 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 34149897 34149897 C T SNP FAM47A ENST00000346193 human ensembl 69_37n -1 known missense c.499 p.E167K 0.007 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 116 0 0.00 36 45 55.56 - - - FAM59A 0 genome.wustl.edu 37 18 29848284 29848284 + Frame_Shift_Del DEL G G - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 29848284 29848284 G - DEL FAM59A ENST00000269209 human ensembl 69_37n -1 known frame_shift_del c.2181 p.R728fs 0.927 NULL superfamily_SAM/pointed - no_errors FAM59A HGNC ENSG00000141441 84 0 0.00 22 21 46.67 - - - FAM5C 0 genome.wustl.edu 37 1 190068091 190068091 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 190068091 190068091 G A SNP FAM5C ENST00000367462 human ensembl 69_37n -1 known missense c.1358 p.A453V 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC ENSG00000162670 37 0 0.00 27 12 30.77 - - - FAM75D1 0 genome.wustl.edu 37 9 84608240 84608240 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 84608240 84608240 C G SNP FAM75D1 ENST00000344803 human ensembl 69_37n +1 known missense c.2855 p.S952C 0.006 NULL NULL - no_errors FAM75D1 HGNC ENSG00000214929 61 0 0.00 53 24 31.17 - - - FAM75D3 0 genome.wustl.edu 37 9 84562337 84562337 + RNA SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 84562337 84562337 G C SNP FAM75D3 ENST00000334208 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FAM75D3 HGNC ENSG00000186788 11 0 0.00 17 7 29.17 - - - FAM75D3 0 genome.wustl.edu 37 9 84562818 84562818 + RNA SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 84562818 84562818 G C SNP FAM75D3 ENST00000334208 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FAM75D3 HGNC ENSG00000186788 157 0 0.00 132 42 24.14 - - - FAM75E1 0 genome.wustl.edu 37 9 90502987 90502987 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 90502987 90502987 G A SNP FAM75E1 ENST00000325643 human ensembl 69_37n +1 known silent c.3585 p.Q1195 0.000 NULL NULL - no_errors FAM75E1 HGNC ENSG00000177992 18 0 0.00 12 6 33.33 - - - FAM75E1 0 genome.wustl.edu 37 9 90503538 90503538 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 90503538 90503538 C T SNP FAM75E1 ENST00000325643 human ensembl 69_37n +1 known missense c.4136 p.P1379L 0.000 NULL NULL - no_errors FAM75E1 HGNC ENSG00000177992 46 0 0.00 14 6 30.00 - - - FAN1 0 genome.wustl.edu 37 15 31229382 31229382 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 31229382 31229382 G A SNP FAN1 ENST00000362065 human ensembl 69_37n +1 known missense c.2977 p.E993K 1.000 pfam_VRR_NUC pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 85 0 0.00 22 41 65.08 - - - FBF1 0 genome.wustl.edu 37 17 73917561 73917561 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 73917561 73917561 G A SNP FBF1 ENST00000389570 human ensembl 69_37n -1 known missense c.1565 p.S522L 0.000 NULL superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 39 0 0.00 8 14 63.64 - - - FBN3 0 genome.wustl.edu 37 19 8174578 8174578 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 8174578 8174578 C T SNP FBN3 ENST00000270509 human ensembl 69_37n -1 known missense c.4393 p.G1465S 1.000 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 38 0 0.00 11 6 35.29 - - - FBXL5 0 genome.wustl.edu 37 4 15613942 15613942 + Nonsense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 15613942 15613942 G C SNP FBXL5 ENST00000341285 human ensembl 69_37n -1 known nonsense c.1946 p.S649* 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL5 HGNC ENSG00000118564 59 0 0.00 53 12 18.46 - - - FCRL5 0 genome.wustl.edu 37 1 157509116 157509116 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 157509116 157509116 C T SNP FCRL5 ENST00000356953 human ensembl 69_37n -1 known missense c.1162 p.E388K 0.000 smart_Ig_sub,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC ENSG00000143297 84 0 0.00 49 29 37.18 - - - FCRL6 0 genome.wustl.edu 37 1 159778911 159778911 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 159778911 159778911 C T SNP FCRL6 ENST00000368106 human ensembl 69_37n +1 known silent c.480 p.G160 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL6 HGNC ENSG00000181036 56 0 0.00 28 15 34.88 - - - FKBP15 0 genome.wustl.edu 37 9 115941002 115941002 + Frame_Shift_Del DEL T T - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 115941002 115941002 T - DEL FKBP15 ENST00000238256 human ensembl 69_37n -1 known frame_shift_del c.1994 p.K665fs 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 148 0 0.00 93 44 31.21 - - - FKBP8 0 genome.wustl.edu 37 19 18652634 18652634 + Silent SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 18652634 18652634 C G SNP FKBP8 ENST00000453489 human ensembl 69_37n -1 known silent c.234 p.L78 1.000 NULL pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC ENSG00000105701 47 0 0.00 18 9 33.33 - - - FKBP8 0 genome.wustl.edu 37 19 18652687 18652687 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 18652687 18652687 C G SNP FKBP8 ENST00000453489 human ensembl 69_37n -1 known missense c.181 p.D61H 0.951 NULL pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC ENSG00000105701 52 0 0.00 23 9 28.12 - - - FOXN1 0 genome.wustl.edu 37 17 26862049 26862049 + Frame_Shift_Del DEL C C - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 26862049 26862049 C - DEL FOXN1 ENST00000226247 human ensembl 69_37n +1 known frame_shift_del c.1460 p.Q489fs 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN1 HGNC ENSG00000109101 16 0 0.00 8 5 38.46 - - - FOXP3 0 genome.wustl.edu 37 X 49107846 49107846 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 49107846 49107846 C T SNP FOXP3 ENST00000376207 human ensembl 69_37n -1 known silent c.1245 p.K415 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP3 HGNC ENSG00000049768 105 0 0.00 25 38 60.32 - - - FREM3 0 genome.wustl.edu 37 4 144619338 144619338 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 144619338 144619338 C T SNP FREM3 ENST00000329798 human ensembl 69_37n -1 putative missense c.2491 p.E831K 0.005 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 101 1 0.98 32 49 60.49 - - - FRMD4A 0 genome.wustl.edu 37 10 13696452 13696452 + Frame_Shift_Del DEL G G - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 13696452 13696452 G - DEL FRMD4A ENST00000357447 human ensembl 69_37n -1 known frame_shift_del c.3014 p.P1005fs 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 84 0 0.00 28 7 20.00 - - - FRMPD1 0 genome.wustl.edu 37 9 37744937 37744937 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 37744937 37744937 C G SNP FRMPD1 ENST00000377765 human ensembl 69_37n +1 known missense c.2908 p.H970D 0.006 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 33 0 0.00 40 16 28.57 - - - FTO 0 genome.wustl.edu 37 16 53860226 53860226 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 53860226 53860226 G C SNP FTO ENST00000471389 human ensembl 69_37n +1 known missense c.574 p.D192H 0.028 NULL NULL - no_errors FTO HGNC ENSG00000140718 118 0 0.00 33 30 47.62 - - - FZD10 0 genome.wustl.edu 37 12 130648757 130648757 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 130648757 130648757 C T SNP FZD10 ENST00000229030 human ensembl 69_37n +1 known missense c.1270 p.R424W 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like - no_errors FZD10 HGNC ENSG00000111432 130 0 0.00 100 52 33.99 - - - FZD5 0 genome.wustl.edu 37 2 208632887 208632887 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 208632887 208632887 G A SNP FZD5 ENST00000295417 human ensembl 69_37n -1 known missense c.577 p.R193C 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 17 0 0.00 16 6 27.27 - - - G3BP2 0 genome.wustl.edu 37 4 76570700 76570700 + Missense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 76570700 76570700 G T SNP G3BP2 ENST00000359707 human ensembl 69_37n -1 known missense c.1363 p.P455T 1.000 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP2 HGNC ENSG00000138757 169 0 0.00 82 71 46.41 - - - G6PD 0 genome.wustl.edu 37 X 153760987 153760987 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 153760987 153760987 G A SNP G6PD ENST00000369620 human ensembl 69_37n -1 known missense c.1220 p.A407V 1.000 pfam_G6P_DH_C,pirsf_G6P_DH,prints_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH - no_errors G6PD HGNC ENSG00000160211 31 0 0.00 8 16 66.67 - - - GABRA3 0 genome.wustl.edu 37 X 151336964 151336964 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 151336964 151336964 G C SNP GABRA3 ENST00000370311 human ensembl 69_37n -1 known missense c.1215 p.I405M 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABBAa3_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_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 254 0 0.00 83 105 55.85 - - - GABRR3 0 genome.wustl.edu 37 3 97731335 97731335 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 97731335 97731335 C T SNP GABRR3 ENST00000472788 human ensembl 69_37n -1 known missense c.383 p.S128N 1.000 NULL NULL - pseudogene GABRR3 HGNC ENSG00000183185 166 0 0.00 90 44 32.84 - - - GALK2 0 genome.wustl.edu 37 15 49531449 49531449 + Missense_Mutation SNP T T A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 49531449 49531449 T A SNP GALK2 ENST00000560031 human ensembl 69_37n +1 known missense c.389 p.M130K 1.000 superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Galactokinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,tigrfam_Galactokinase - no_errors GALK2 HGNC ENSG00000156958 147 0 0.00 77 37 32.46 - - - GALNT13 0 genome.wustl.edu 37 2 155115572 155115572 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 155115572 155115572 G A SNP GALNT13 ENST00000409237 human ensembl 69_37n +1 known missense c.896 p.R299K 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 GALNT13 HGNC ENSG00000144278 177 0 0.00 130 24 15.58 - - - GALNT5 0 genome.wustl.edu 37 2 158153015 158153015 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 158153015 158153015 G C SNP GALNT5 ENST00000259056 human ensembl 69_37n +1 known missense c.1987 p.D663H 0.999 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 GALNT5 HGNC ENSG00000136542 98 0 0.00 91 47 34.06 - - - GARNL3 0 genome.wustl.edu 37 9 130111209 130111209 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 130111209 130111209 G A SNP GARNL3 ENST00000373387 human ensembl 69_37n +1 known missense c.1438 p.E480K 1.000 NULL pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP - no_errors GARNL3 HGNC ENSG00000136895 160 1 0.62 117 57 32.76 - - - GAS6 0 genome.wustl.edu 37 13 114541067 114541067 + Silent SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 13 114541067 114541067 G C SNP GAS6 ENST00000357389 human ensembl 69_37n -1 known silent c.564 p.L188 0.002 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 53 0 0.00 15 7 31.82 - - - GATA3 0 genome.wustl.edu 37 10 8106094 8106094 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 8106094 8106094 G A SNP GATA3 ENST00000379328 human ensembl 69_37n +1 known missense c.917 p.R306Q 1.000 smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 81 0 0.00 36 27 42.86 - - - GBAP1 0 genome.wustl.edu 37 1 155184145 155184145 + RNA SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 155184145 155184145 G C SNP GBAP1 ENST00000368374 human ensembl 69_37n -1 known rna NULL NULL 0.069 - - - no_errors GBAP1 HGNC ENSG00000160766 36 0 0.00 16 20 55.56 - - - GIGYF2 0 genome.wustl.edu 37 2 233655742 233655742 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 233655742 233655742 G A SNP GIGYF2 ENST00000373566 human ensembl 69_37n +1 known missense c.1021 p.E341K 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 75 0 0.00 34 23 40.35 - - - GINS1 0 genome.wustl.edu 37 20 25388530 25388530 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 25388530 25388530 A G SNP GINS1 ENST00000262460 human ensembl 69_37n +1 known missense c.74 p.N25S 1.000 NULL NULL - no_errors GINS1 HGNC ENSG00000101003 34 0 0.00 16 5 23.81 - - - GLDC 0 genome.wustl.edu 37 9 6644693 6644693 + Splice_Site SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 6644693 6644693 C T SNP GLDC ENST00000321612 human ensembl 69_37n -1 known splice_site c.256-1 e2-1 1.000 - - - no_errors GLDC HGNC ENSG00000178445 58 0 0.00 41 23 35.94 - - - GLTSCR1 0 genome.wustl.edu 37 19 48197891 48197891 + Frame_Shift_Del DEL C C - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 48197891 48197891 C - DEL GLTSCR1 ENST00000396720 human ensembl 69_37n +1 known frame_shift_del c.2803 p.P937fs 0.226 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 15 0 0.00 3 5 62.50 - - - GLTSCR1 0 genome.wustl.edu 37 19 48198190 48198190 + Frame_Shift_Del DEL G G - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 48198190 48198190 G - DEL GLTSCR1 ENST00000396720 human ensembl 69_37n +1 known frame_shift_del c.2929 p.A979fs 0.010 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 36 0 0.00 4 3 37.50 - - - GM2A 0 genome.wustl.edu 37 5 150646902 150646902 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 150646902 150646902 G A SNP GM2A ENST00000357164 human ensembl 69_37n +1 known missense c.472 p.E158K 1.000 smart_MD-2_lipid-recog smart_MD-2_lipid-recog - no_errors GM2A HGNC ENSG00000196743 73 0 0.00 61 26 29.89 - - - GMPPB 0 genome.wustl.edu 37 3 49759422 49759422 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 49759422 49759422 G A SNP GMPPB ENST00000308375 human ensembl 69_37n -1 known silent c.927 p.G309 1.000 NULL pfam_NTP_transferase,pfam_Hexapep_transf - no_errors GMPPB HGNC ENSG00000173540 30 0 0.00 9 4 30.77 - - - GNPDA2 0 genome.wustl.edu 37 4 44724209 44724209 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 44724209 44724209 G A SNP GNPDA2 ENST00000295448 human ensembl 69_37n -1 known missense c.16 p.L6F 1.000 tigrfam_Glucosamine6P_isomerase pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase - no_errors GNPDA2 HGNC ENSG00000163281 81 0 0.00 71 23 24.47 - - - GPR12 0 genome.wustl.edu 37 13 27333511 27333511 + Missense_Mutation SNP T T A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 13 27333511 27333511 T A SNP GPR12 ENST00000381436 human ensembl 69_37n -1 known missense c.454 p.R152W 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR_orph_rcpt,prints_GPR12_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 44 0 0.00 13 12 48.00 - - - GPR173 0 genome.wustl.edu 37 X 53106178 53106178 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 53106178 53106178 C T SNP GPR173 ENST00000332582 human ensembl 69_37n +1 known silent c.375 p.I125 0.991 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 GPR173 HGNC ENSG00000184194 43 0 0.00 13 11 45.83 - - - GPR180 0 genome.wustl.edu 37 13 95271495 95271495 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 13 95271495 95271495 C T SNP GPR180 ENST00000376958 human ensembl 69_37n +1 known silent c.597 p.G199 0.998 pfam_Rhodopsin-like_GPCR_TM_domain,pfam_TM_rcpt_euk pfam_Rhodopsin-like_GPCR_TM_domain,pfam_TM_rcpt_euk - no_errors GPR180 HGNC ENSG00000152749 236 0 0.00 72 72 47.68 - - - GPR56 0 genome.wustl.edu 37 16 57689382 57689382 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 57689382 57689382 G A SNP GPR56 ENST00000565391 human ensembl 69_37n +1 putative missense c.325 p.E109K 0.603 NULL NULL - no_start_codon:pseudogene:no_stop_codon GPR56 HGNC ENSG00000205336 29 0 0.00 3 7 70.00 - - - GPR62 0 genome.wustl.edu 37 3 51989737 51989737 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 51989737 51989737 C T SNP GPR62 ENST00000322241 human ensembl 69_37n +1 known silent c.69 p.V23 0.466 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR62 HGNC ENSG00000180929 31 0 0.00 9 4 30.77 - - - GPR75 0 genome.wustl.edu 37 2 54081853 54081853 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 54081853 54081853 G A SNP GPR75 ENST00000394705 human ensembl 69_37n -1 known missense c.41 p.T14I 0.592 NULL pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR75 HGNC ENSG00000119737 39 0 0.00 22 10 31.25 - - - GRASP 0 genome.wustl.edu 37 12 52407499 52407499 + Silent SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 52407499 52407499 G C SNP GRASP ENST00000293662 human ensembl 69_37n +1 known silent c.483 p.L161 0.743 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRASP HGNC ENSG00000161835 68 0 0.00 41 21 33.87 - - - GRID2IP 0 genome.wustl.edu 37 7 6550320 6550320 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 6550320 6550320 C T SNP GRID2IP ENST00000457091 human ensembl 69_37n -1 putative missense c.1573 p.E525K 0.995 NULL pfam_FH2_actin-bd,pfam_PDZ,superfamily_FH2_actin-bd,superfamily_PDZ,smart_PDZ,smart_Actin-bd_FH2/DRF_autoreg,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 64 0 0.00 8 8 50.00 - - - GRIK1 0 genome.wustl.edu 37 21 30949301 30949301 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 21 30949301 30949301 T C SNP GRIK1 ENST00000535441 human ensembl 69_37n -1 known missense c.2119 p.T707A 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_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 GRIK1 HGNC ENSG00000171189 97 0 0.00 38 30 44.12 - - - GRTP1 0 genome.wustl.edu 37 13 113980339 113980339 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 13 113980339 113980339 C T SNP GRTP1 ENST00000375430 human ensembl 69_37n -1 known silent c.630 p.A210 0.898 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,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors GRTP1 HGNC ENSG00000139835 35 0 0.00 8 8 50.00 - - - H3F3C 0 genome.wustl.edu 37 12 31944956 31944956 + Nonsense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 31944956 31944956 G A SNP H3F3C ENST00000340398 human ensembl 69_37n -1 known nonsense c.145 p.R49* 0.947 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3C HGNC ENSG00000188375 66 0 0.00 46 25 35.21 - - - HCFC2 0 genome.wustl.edu 37 12 104458465 104458465 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 104458465 104458465 G C SNP HCFC2 ENST00000229330 human ensembl 69_37n +1 known missense c.127 p.E43Q 1.000 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 36 0 0.00 3 4 57.14 - - - HDAC4 0 genome.wustl.edu 37 2 240056337 240056337 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 240056337 240056337 C T SNP HDAC4 ENST00000445704 human ensembl 69_37n -1 novel missense c.212 p.R71Q 0.978 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HDAC4 HGNC ENSG00000068024 75 0 0.00 28 18 39.13 - - - HEPH 0 genome.wustl.edu 37 X 65415033 65415033 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 65415033 65415033 T C SNP HEPH ENST00000519389 human ensembl 69_37n +1 known missense c.1625 p.F542S 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 81 0 0.00 44 12 21.43 - - - HERC2 0 genome.wustl.edu 37 15 28375390 28375390 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 28375390 28375390 G A SNP HERC2 ENST00000261609 human ensembl 69_37n -1 known missense c.12721 p.R4241W 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 106 0 0.00 33 32 49.23 - - - HEY2 0 genome.wustl.edu 37 6 126080335 126080335 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 126080335 126080335 C T SNP HEY2 ENST00000368364 human ensembl 69_37n +1 known missense c.401 p.A134V 1.000 pfam_Orange,smart_Orange_subgr,pfscan_Orange pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd,prints_Antifreeze_1 - no_errors HEY2 HGNC ENSG00000135547 96 0 0.00 79 10 11.24 - - - HHIPL1 0 genome.wustl.edu 37 14 100118811 100118811 + Nonsense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 100118811 100118811 C G SNP HHIPL1 ENST00000330710 human ensembl 69_37n +1 known nonsense c.506 p.S169* 0.047 pfam_Folate_rcpt-like pfam_Srcr_rcpt,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors HHIPL1 HGNC ENSG00000182218 83 0 0.00 29 11 27.50 - - - HIF1A 0 genome.wustl.edu 37 14 62187188 62187188 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 62187188 62187188 C T SNP HIF1A ENST00000539097 human ensembl 69_37n +1 known missense c.196 p.H66Y 1.000 superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_HIF-1_alpha,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 81 0 0.00 51 31 37.80 - - - HIPK2 0 genome.wustl.edu 37 7 139281600 139281600 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 139281600 139281600 G A SNP HIPK2 ENST00000406875 human ensembl 69_37n -1 known silent c.2580 p.G860 0.166 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 57 0 0.00 24 14 36.84 - - - HIPK3 0 genome.wustl.edu 37 11 33308561 33308561 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 33308561 33308561 G A SNP HIPK3 ENST00000303296 human ensembl 69_37n +1 known missense c.601 p.D201N 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_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 34 0 0.00 12 18 60.00 - - - HIST1H3B 0 genome.wustl.edu 37 6 26031967 26031967 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 26031967 26031967 T C SNP HIST1H3B ENST00000244661 human ensembl 69_37n -1 known missense c.322 p.T108A 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 HIST1H3B HGNC ENSG00000124693 80 0 0.00 48 14 22.22 - - - HIVEP1 0 genome.wustl.edu 37 6 12161698 12161698 + Nonsense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 12161698 12161698 C T SNP HIVEP1 ENST00000379388 human ensembl 69_37n +1 known nonsense c.6514 p.R2172* 0.995 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 29 0 0.00 32 14 30.43 - - - HKR1 0 genome.wustl.edu 37 19 37853022 37853022 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 37853022 37853022 G C SNP HKR1 ENST00000324411 human ensembl 69_37n +1 known missense c.325 p.E109Q 0.110 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 HKR1 HGNC ENSG00000181666 61 0 0.00 44 31 41.33 - - - HLA-A 0 genome.wustl.edu 37 6 29911954 29911954 + Silent SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 29911954 29911954 G T SNP HLA-A ENST00000376806 human ensembl 69_37n +1 known silent c.675 p.L225 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 44 0 0.00 10 21 67.74 - - - HMCN1 0 genome.wustl.edu 37 1 186147874 186147874 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 186147874 186147874 G A SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.16270 p.E5424K 1.000 superfamily_Growth_fac_rcpt 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 71 0 0.00 53 36 40.45 - - - HMGB4 0 genome.wustl.edu 37 1 34330027 34330027 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 34330027 34330027 G A SNP HMGB4 ENST00000519684 human ensembl 69_37n +1 known missense c.235 p.V79I 0.000 superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGB4 HGNC ENSG00000176256 74 0 0.00 53 19 26.39 - - - HNF4G 0 genome.wustl.edu 37 8 76456180 76456180 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 76456180 76456180 C T SNP HNF4G ENST00000396423 human ensembl 69_37n +1 known missense c.223 p.R75C 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4G HGNC ENSG00000164749 116 0 0.00 41 54 56.84 - - - HNRNPC 0 genome.wustl.edu 37 14 21680074 21680074 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 21680074 21680074 C T SNP HNRNPC ENST00000320084 human ensembl 69_37n -1 known missense c.571 p.D191N 1.000 superfamily_Regulat_G_prot_signal_superfam,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 108 0 0.00 101 44 30.34 - - - HOOK2 0 genome.wustl.edu 37 19 12881762 12881762 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 12881762 12881762 C T SNP HOOK2 ENST00000397668 human ensembl 69_37n -1 known missense c.886 p.E296K 1.000 pfam_HOOK pfam_HOOK,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 48 0 0.00 18 10 35.71 - - - HOXA9 0 genome.wustl.edu 37 7 27203249 27203249 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 27203249 27203249 G A SNP HOXA9 ENST00000343483 human ensembl 69_37n -1 known silent c.792 p.I264 1.000 superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA9 HGNC ENSG00000078399 262 0 0.00 160 81 33.61 - - - HPCAL4 0 genome.wustl.edu 37 1 40149705 40149705 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 40149705 40149705 G A SNP HPCAL4 ENST00000372844 human ensembl 69_37n -1 known silent c.282 p.R94 0.991 pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors HPCAL4 HGNC ENSG00000116983 49 0 0.00 21 18 46.15 - - - HRH4 0 genome.wustl.edu 37 18 22057345 22057345 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 22057345 22057345 C T SNP HRH4 ENST00000256906 human ensembl 69_37n +1 known missense c.992 p.S331L 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Histamine_H4_recept,prints_7TM_GPCR_Rhodpsn - no_errors HRH4 HGNC ENSG00000134489 264 0 0.00 93 108 53.73 - - - HS6ST1 0 genome.wustl.edu 37 2 129075905 129075905 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 129075905 129075905 G A SNP HS6ST1 ENST00000259241 human ensembl 69_37n -1 known missense c.233 p.S78L 1.000 NULL pfam_Sulfotransferase - no_errors HS6ST1 HGNC ENSG00000136720 32 0 0.00 4 4 50.00 - - - HSDL2 0 genome.wustl.edu 37 9 115232817 115232817 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 115232817 115232817 G C SNP HSDL2 ENST00000398805 human ensembl 69_37n +1 known missense c.1250 p.R417T 0.983 superfamily_SCP2_sterol-bd_dom pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH - no_errors HSDL2 HGNC ENSG00000119471 59 0 0.00 43 32 42.67 - - - HTT 0 genome.wustl.edu 37 4 3205874 3205874 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 3205874 3205874 T C SNP HTT ENST00000355072 human ensembl 69_37n +1 known missense c.5717 p.V1906A 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 118 1 0.83 54 16 22.86 - - - HYDIN 0 genome.wustl.edu 37 16 70884495 70884495 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 70884495 70884495 G A SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known silent c.12504 p.C4168 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 104 0 0.00 38 34 47.22 - - - HYDIN 0 genome.wustl.edu 37 16 71026093 71026093 + Missense_Mutation SNP T T G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 71026093 71026093 T G SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known missense c.3665 p.K1222T 0.950 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 155 0 0.00 18 34 65.38 - - - IARS 0 genome.wustl.edu 37 9 95025286 95025286 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 95025286 95025286 G A SNP IARS ENST00000375643 human ensembl 69_37n -1 known silent c.1752 p.F584 1.000 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-synt pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt - no_errors IARS HGNC ENSG00000196305 83 0 0.00 52 27 34.18 - - - IARS2 0 genome.wustl.edu 37 1 220316389 220316389 + Silent SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 220316389 220316389 A G SNP IARS2 ENST00000302637 human ensembl 69_37n +1 known silent c.2664 p.S888 0.023 superfamily_tRNAsynth_1a_anticodon-bd pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt - no_errors IARS2 HGNC ENSG00000067704 117 0 0.00 178 73 29.08 - - - ICK 0 genome.wustl.edu 37 6 52883203 52883203 + Silent SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 52883203 52883203 G C SNP ICK ENST00000350082 human ensembl 69_37n -1 known silent c.588 p.L196 0.892 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 82 0 0.00 22 65 74.71 - - - IFFO1 0 genome.wustl.edu 37 12 6658963 6658963 + Nonsense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 6658963 6658963 C T SNP IFFO1 ENST00000416019 human ensembl 69_37n -1 novel nonsense c.225 p.W75* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IFFO1 HGNC ENSG00000010295 84 0 0.00 30 24 44.44 - - - IGKV6-21 0 genome.wustl.edu 37 2 89459508 89459508 + Silent SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 89459508 89459508 C G SNP IGKV6-21 ENST00000390256 human ensembl 69_37n -1 known silent c.69 p.L23 0.991 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV6-21 HGNC ENSG00000211611 60 0 0.00 86 23 21.10 - - - IL1RAPL2 0 genome.wustl.edu 37 X 104440363 104440363 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 104440363 104440363 G C SNP IL1RAPL2 ENST00000344799 human ensembl 69_37n +1 known missense c.289 p.E97Q 1.000 smart_Ig_sub,pfscan_Ig-like,prints_Interleukin-1_rcpt_II pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II - no_errors IL1RAPL2 HGNC ENSG00000189108 77 0 0.00 32 29 47.54 - - - IL34 0 genome.wustl.edu 37 16 70688451 70688451 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 70688451 70688451 C G SNP IL34 ENST00000288098 human ensembl 69_37n +1 known missense c.39 p.I13M 0.304 NULL prints_Interleukin-34 - no_errors IL34 HGNC ENSG00000157368 285 0 0.00 76 120 61.22 - - - INADL 0 genome.wustl.edu 37 1 62330274 62330274 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 62330274 62330274 C T SNP INADL ENST00000371158 human ensembl 69_37n +1 known missense c.2804 p.A935V 0.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 33 0 0.00 9 15 62.50 - - - INF2 0 genome.wustl.edu 37 14 105169695 105169695 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 105169695 105169695 G A SNP INF2 ENST00000392634 human ensembl 69_37n +1 known missense c.571 p.V191M 1.000 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 54 0 0.00 23 18 43.90 - - - ING3 0 genome.wustl.edu 37 7 120607994 120607994 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 120607994 120607994 G A SNP ING3 ENST00000315870 human ensembl 69_37n +1 known missense c.563 p.R188Q 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING3 HGNC ENSG00000071243 78 0 0.00 73 23 23.96 - - - INTS9 0 genome.wustl.edu 37 8 28635395 28635395 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 28635395 28635395 T C SNP INTS9 ENST00000521022 human ensembl 69_37n -1 known missense c.1346 p.D449G 1.000 NULL pfam_Beta_Casp - no_errors INTS9 HGNC ENSG00000104299 131 1 0.76 67 13 16.25 - - - IQSEC2 0 genome.wustl.edu 37 X 53276254 53276254 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 53276254 53276254 G A SNP IQSEC2 ENST00000396435 human ensembl 69_37n -1 known silent c.2646 p.F882 1.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC2 HGNC ENSG00000124313 184 0 0.00 73 65 47.10 - - - ITIH3 0 genome.wustl.edu 37 3 52841021 52841021 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 52841021 52841021 G C SNP ITIH3 ENST00000449956 human ensembl 69_37n +1 known missense c.2161 p.D721H 0.449 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 37 0 0.00 10 12 54.55 - - - ITK 0 genome.wustl.edu 37 5 156641279 156641279 + Nonsense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 156641279 156641279 C T SNP ITK ENST00000422843 human ensembl 69_37n +1 known nonsense c.403 p.Q135* 1.000 pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 102 0 0.00 78 33 29.73 - - - ITPR2 0 genome.wustl.edu 37 12 26750047 26750047 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 26750047 26750047 G A SNP ITPR2 ENST00000381340 human ensembl 69_37n -1 known silent c.4023 p.D1341 0.996 pfam_Ca-rel_channel,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 81 0 0.00 52 24 31.58 - - - ITPRIPL1 0 genome.wustl.edu 37 2 96993969 96993969 + Nonsense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 96993969 96993969 G A SNP ITPRIPL1 ENST00000420728 human ensembl 69_37n +1 putative nonsense c.1695 p.W565* 0.990 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ITPRIPL1 HGNC ENSG00000198885 15 0 0.00 13 9 40.91 - - - IZUMO1 0 genome.wustl.edu 37 19 49249107 49249107 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 49249107 49249107 G A SNP IZUMO1 ENST00000332955 human ensembl 69_37n -1 known missense c.10 p.H4Y 0.000 NULL NULL - no_errors IZUMO1 HGNC ENSG00000182264 43 0 0.00 36 20 35.71 - - - JAG1 0 genome.wustl.edu 37 20 10632838 10632838 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 10632838 10632838 C T SNP JAG1 ENST00000254958 human ensembl 69_37n -1 known missense c.947 p.G316D 0.999 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 85 0 0.00 45 24 34.78 - - - JMJD1C 0 genome.wustl.edu 37 10 65140109 65140109 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 65140109 65140109 G A SNP JMJD1C ENST00000399262 human ensembl 69_37n -1 known missense c.302 p.S101L 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 110 0 0.00 48 32 40.00 - - - JMY 0 genome.wustl.edu 37 5 78533503 78533503 + Nonsense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 78533503 78533503 G T SNP JMY ENST00000396137 human ensembl 69_37n +1 known nonsense c.1030 p.E344* 1.000 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 29 0 0.00 10 11 52.38 - - - JPH4 0 genome.wustl.edu 37 14 24041029 24041029 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 24041029 24041029 G A SNP JPH4 ENST00000356300 human ensembl 69_37n -1 known missense c.1252 p.P418S 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 48 0 0.00 30 6 16.67 - - - KBTBD2 0 genome.wustl.edu 37 7 32908995 32908995 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 32908995 32908995 C G SNP KBTBD2 ENST00000304056 human ensembl 69_37n -1 known missense c.1834 p.E612Q 1.000 NULL pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 93 0 0.00 71 44 38.26 - - - KCNA6 0 genome.wustl.edu 37 12 4919268 4919268 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 4919268 4919268 G C SNP KCNA6 ENST00000280684 human ensembl 69_37n +1 known missense c.61 p.E21Q 0.745 prints_K_chnl_volt-dep_Kv1.6 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_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 13 0 0.00 11 5 31.25 - - - KCNA6 0 genome.wustl.edu 37 12 4919634 4919634 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 4919634 4919634 G A SNP KCNA6 ENST00000280684 human ensembl 69_37n +1 known missense c.427 p.E143K 0.673 prints_K_chnl_volt-dep_Kv1.6 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_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 35 0 0.00 11 11 50.00 - - - KCNC2 0 genome.wustl.edu 37 12 75436094 75436097 + Frame_Shift_Del DEL TAAG TAAG - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 TAAG TAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 75436094 75436097 TAAG - DEL KCNC2 ENST00000298972 human ensembl 69_37n -1 known frame_shift_del c.1841_1838 p.T613fs 1.000:1.000:1.000:1.000 NULL 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_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 124 0 0.00 149 22 12.87 - - - KCNT2 0 genome.wustl.edu 37 1 196309545 196309545 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 196309545 196309545 C G SNP KCNT2 ENST00000294725 human ensembl 69_37n -1 known missense c.1709 p.R570T 0.775 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT2 HGNC ENSG00000162687 143 0 0.00 161 74 31.49 - - - KCTD19 0 genome.wustl.edu 37 16 67327655 67327655 + Silent SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 67327655 67327655 G T SNP KCTD19 ENST00000304372 human ensembl 69_37n -1 known silent c.2010 p.L670 0.090 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 88 0 0.00 24 29 54.72 - - - KDELC1 0 genome.wustl.edu 37 13 103443621 103443621 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 13 103443621 103443621 C T SNP KDELC1 ENST00000376004 human ensembl 69_37n -1 known missense c.832 p.E278K 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 103 0 0.00 35 42 54.55 - - - KDM5C 0 genome.wustl.edu 37 X 53224232 53224232 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 53224232 53224232 C G SNP KDM5C ENST00000375401 human ensembl 69_37n -1 known missense c.3319 p.D1107H 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,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 KDM5C HGNC ENSG00000126012 59 0 0.00 17 21 55.26 - - - KDR 0 genome.wustl.edu 37 4 55964914 55964914 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 55964914 55964914 C T SNP KDR ENST00000263923 human ensembl 69_37n -1 known missense c.2323 p.A775T 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,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,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors KDR HGNC ENSG00000128052 76 0 0.00 39 26 40.00 - - - KIAA0020 0 genome.wustl.edu 37 9 2811363 2811363 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 2811363 2811363 C G SNP KIAA0020 ENST00000397885 human ensembl 69_37n -1 known missense c.1633 p.E545Q 1.000 pfam_CPL,superfamily_ARM-type_fold pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 89 0 0.00 53 32 37.65 - - - KIAA0226 0 genome.wustl.edu 37 3 197427635 197427635 + Nonsense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 197427635 197427635 C A SNP KIAA0226 ENST00000413360 human ensembl 69_37n -1 novel nonsense c.1045 p.G349* 0.459 NULL pfam_Run,smart_Run,pfscan_Run - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIAA0226 HGNC ENSG00000145016 49 0 0.00 13 21 61.76 - - - KIAA0226 0 genome.wustl.edu 37 3 197427778 197427778 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 197427778 197427778 C G SNP KIAA0226 ENST00000296343 human ensembl 69_37n -1 known missense c.967 p.E323Q 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 31 0 0.00 6 19 76.00 - - - KIAA0556 0 genome.wustl.edu 37 16 27777778 27777778 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 27777778 27777778 G A SNP KIAA0556 ENST00000261588 human ensembl 69_37n +1 known missense c.3958 p.E1320K 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 47 0 0.00 30 6 16.67 - - - KIAA1109 0 genome.wustl.edu 37 4 123239410 123239410 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 123239410 123239410 G A SNP KIAA1109 ENST00000419325 human ensembl 69_37n +1 putative missense c.4651 p.E1551K 0.997 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIAA1109 HGNC ENSG00000138688 90 0 0.00 46 55 54.46 - - - KIAA1429 0 genome.wustl.edu 37 8 95523890 95523890 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 95523890 95523890 C T SNP KIAA1429 ENST00000297591 human ensembl 69_37n -1 known silent c.2913 p.T971 0.997 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 25 0 0.00 21 15 41.67 - - - KIAA1456 0 genome.wustl.edu 37 8 12878609 12878609 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 12878609 12878609 G A SNP KIAA1456 ENST00000524591 human ensembl 69_37n +1 known missense c.421 p.V141I 0.995 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel - no_errors KIAA1456 Clone_based_vega_gene ENSG00000250305 52 0 0.00 19 23 54.76 - - - KIAA1755 0 genome.wustl.edu 37 20 36845798 36845798 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 36845798 36845798 C T SNP KIAA1755 ENST00000279024 human ensembl 69_37n -1 known missense c.2758 p.E920K 0.005 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 39 0 0.00 9 7 43.75 - - - KIAA1984 0 genome.wustl.edu 37 9 139697137 139697137 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 139697137 139697137 G C SNP KIAA1984 ENST00000338005 human ensembl 69_37n +1 known missense c.565 p.E189Q 0.053 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 82 0 0.00 52 28 34.57 - - - KIF11 0 genome.wustl.edu 37 10 94388635 94388635 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 94388635 94388635 G C SNP KIF11 ENST00000260731 human ensembl 69_37n +1 known missense c.1288 p.E430Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 73 0 0.00 32 29 47.54 - - - KIF19 0 genome.wustl.edu 37 17 72346876 72346876 + Silent SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 72346876 72346876 C G SNP KIF19 ENST00000389916 human ensembl 69_37n +1 known silent c.1419 p.L473 0.989 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 25 0 0.00 5 6 54.55 - - - KPNB1 0 genome.wustl.edu 37 17 45734337 45734337 + Nonsense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 45734337 45734337 C A SNP KPNB1 ENST00000582097 human ensembl 69_37n +1 novel nonsense c.47 p.S16* 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_HEAT_type_2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KPNB1 HGNC ENSG00000108424 183 0 0.00 64 93 59.24 - - - KRBA1 0 genome.wustl.edu 37 7 149427568 149427568 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 149427568 149427568 C G SNP KRBA1 ENST00000255992 human ensembl 69_37n +1 known missense c.2053 p.P685A 0.000 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 60 0 0.00 39 18 31.58 - - - KRIT1 0 genome.wustl.edu 37 7 91843945 91843945 + Frame_Shift_Del DEL T T - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 91843945 91843945 T - DEL KRIT1 ENST00000340022 human ensembl 69_37n -1 known frame_shift_del c.1710 p.K570fs 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 113 0 0.00 102 53 33.97 - - - KRT18 0 genome.wustl.edu 37 12 53345518 53345518 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 53345518 53345518 G C SNP KRT18 ENST00000388835 human ensembl 69_37n +1 known missense c.826 p.E276Q 1.000 pfam_F pfam_F,prints_Keratin_I - no_errors KRT18 HGNC ENSG00000111057 69 0 0.00 39 29 42.65 - - - KRT2 0 genome.wustl.edu 37 12 53041591 53041591 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 53041591 53041591 C G SNP KRT2 ENST00000309680 human ensembl 69_37n -1 known missense c.1171 p.E391Q 0.000 pfam_F,superfamily_Prefoldin,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 73 0 0.00 65 34 34.34 - - - KRT6A 0 genome.wustl.edu 37 12 52881589 52881589 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 52881589 52881589 C T SNP KRT6A ENST00000330722 human ensembl 69_37n -1 known missense c.1610 p.G537D 0.683 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 156 0 0.00 84 29 25.66 - - - KRTAP13-3 0 genome.wustl.edu 37 21 31797808 31797808 + Missense_Mutation SNP A A T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 21 31797808 31797808 A T SNP KRTAP13-3 ENST00000390690 human ensembl 69_37n -1 known missense c.423 p.S141R 0.227 pfam_PMG pfam_PMG - no_errors KRTAP13-3 HGNC ENSG00000240432 38 0 0.00 14 21 60.00 - - - L3MBTL1 0 genome.wustl.edu 37 20 42164830 42164830 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 42164830 42164830 G A SNP L3MBTL1 ENST00000445228 human ensembl 69_37n +1 known missense c.821 p.G274E 1.000 NULL pfam_Mbt,pfam_Znf_C2HC,smart_Mbt,pfscan_Mbt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region L3MBTL1 HGNC ENSG00000185513 22 0 0.00 16 7 30.43 - - - LCA5L 0 genome.wustl.edu 37 21 40795031 40795031 + Silent SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 21 40795031 40795031 C A SNP LCA5L ENST00000288350 human ensembl 69_37n -1 known silent c.708 p.L236 0.115 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 165 0 0.00 90 90 50.00 - - - LENG1 0 genome.wustl.edu 37 19 54663378 54663378 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 54663378 54663378 C G SNP LENG1 ENST00000222224 human ensembl 69_37n -1 known missense c.56 p.R19P 1.000 NULL NULL - no_errors LENG1 HGNC ENSG00000105617 33 0 0.00 13 10 43.48 - - - LGI2 0 genome.wustl.edu 37 4 25005603 25005603 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 25005603 25005603 A G SNP LGI2 ENST00000382114 human ensembl 69_37n -1 known missense c.1108 p.W370R 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 71 0 0.00 63 8 11.11 - - - LRCH2 0 genome.wustl.edu 37 X 114400488 114400488 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 114400488 114400488 G C SNP LRCH2 ENST00000317135 human ensembl 69_37n -1 known missense c.1114 p.H372D 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 168 0 0.00 53 56 51.38 - - - LRP1 0 genome.wustl.edu 37 12 57593676 57593677 + Frame_Shift_Ins INS - - A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 57593676 57593677 - A INS LRP1 ENST00000243077 human ensembl 69_37n +1 known frame_shift_ins c.9882_9883 p.V3295fs 1.000:1.000 superfamily_Growth_fac_rcpt,smart_EGF-like pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 63 0 0.00 38 6 13.64 - - - LRP1 0 genome.wustl.edu 37 12 57594568 57594568 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 57594568 57594568 T C SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known missense c.10195 p.C3399R 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 30 0 0.00 20 5 20.00 - - - LRP1B 0 genome.wustl.edu 37 2 141116507 141116507 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 141116507 141116507 G A SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known missense c.11140 p.L3714F 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_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 114 0 0.00 92 48 34.29 - - - LRRC8A 0 genome.wustl.edu 37 9 131669651 131669651 + Silent SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 131669651 131669651 C A SNP LRRC8A ENST00000259324 human ensembl 69_37n +1 known silent c.208 p.R70 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 46 0 0.00 15 9 37.50 - - - LRRTM4 0 genome.wustl.edu 37 2 77745581 77745581 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 77745581 77745581 C T SNP LRRTM4 ENST00000409911 human ensembl 69_37n -1 known missense c.1417 p.E473K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 83 0 0.00 58 35 37.63 - - - LSG1 0 genome.wustl.edu 37 3 194379779 194379779 + Silent SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 194379779 194379779 C G SNP LSG1 ENST00000265245 human ensembl 69_37n -1 known silent c.666 p.R222 0.019 NULL pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors LSG1 HGNC ENSG00000041802 42 0 0.00 22 13 37.14 - - - LTK 0 genome.wustl.edu 37 15 41796393 41796393 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 41796393 41796393 G A SNP LTK ENST00000263800 human ensembl 69_37n -1 known missense c.2396 p.P799L 0.462 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 LTK HGNC ENSG00000062524 26 0 0.00 5 4 44.44 - - - MAEL 0 genome.wustl.edu 37 1 166974320 166974320 + Missense_Mutation SNP A A T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 166974320 166974320 A T SNP MAEL ENST00000367872 human ensembl 69_37n +1 known missense c.656 p.D219V 1.000 superfamily_CH-domain pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain - no_errors MAEL HGNC ENSG00000143194 69 0 0.00 53 25 32.05 - - - MAGI1 0 genome.wustl.edu 37 3 65349175 65349175 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 65349175 65349175 C T SNP MAGI1 ENST00000402939 human ensembl 69_37n -1 known missense c.3460 p.E1154K 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 39 0 0.00 10 21 67.74 - - - MAN1A1 0 genome.wustl.edu 37 6 119510960 119510960 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 119510960 119510960 C T SNP MAN1A1 ENST00000368468 human ensembl 69_37n -1 known missense c.1415 p.G472D 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 50 0 0.00 60 14 18.92 - - - MAP1S 0 genome.wustl.edu 37 19 17844161 17844161 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 17844161 17844161 A G SNP MAP1S ENST00000324096 human ensembl 69_37n +1 known missense c.2948 p.Q983R 0.294 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 41 0 0.00 9 8 44.44 - - - MAP3K2 0 genome.wustl.edu 37 2 128075321 128075321 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 128075321 128075321 C T SNP MAP3K2 ENST00000344908 human ensembl 69_37n -1 known missense c.1210 p.E404K 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_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K2 HGNC ENSG00000169967 74 0 0.00 60 40 40.00 - - - MAP4K2 0 genome.wustl.edu 37 11 64567840 64567840 + Silent SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 64567840 64567840 G C SNP MAP4K2 ENST00000294066 human ensembl 69_37n -1 known silent c.750 p.L250 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_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K2 HGNC ENSG00000168067 43 0 0.00 9 15 62.50 - - - MAP7 0 genome.wustl.edu 37 6 136687005 136687005 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 136687005 136687005 C G SNP MAP7 ENST00000454590 human ensembl 69_37n -1 known missense c.1207 p.E403Q 0.993 NULL pfam_E-MAP-115 - no_errors MAP7 HGNC ENSG00000135525 70 0 0.00 31 64 67.37 - - - MAPK15 0 genome.wustl.edu 37 8 144800433 144800433 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 144800433 144800433 G C SNP MAPK15 ENST00000338033 human ensembl 69_37n +1 known missense c.247 p.E83Q 0.918 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 MAPK15 HGNC ENSG00000181085 26 0 0.00 3 10 76.92 - - - MAST4 0 genome.wustl.edu 37 5 66459594 66459594 + Nonsense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 66459594 66459594 C T SNP MAST4 ENST00000443808 human ensembl 69_37n +1 novel nonsense c.1756 p.R586* 0.993 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MAST4 HGNC ENSG00000069020 14 0 0.00 11 7 38.89 - - - MAZ 0 genome.wustl.edu 37 16 29818053 29818054 + Frame_Shift_Ins INS - - C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 29818053 29818054 - C INS MAZ ENST00000219782 human ensembl 69_37n +1 known frame_shift_ins c.31_32 p.F14fs 0.017:0.006 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 22 0 0.00 4 2 33.33 - - - MAZ 0 genome.wustl.edu 37 16 29819914 29819914 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 29819914 29819914 G A SNP MAZ ENST00000568411 human ensembl 69_37n +1 putative missense c.142 p.E48K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MAZ HGNC ENSG00000103495 32 0 0.00 17 13 43.33 - - - MBOAT7 0 genome.wustl.edu 37 19 54677970 54677970 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 54677970 54677970 T C SNP MBOAT7 ENST00000245615 human ensembl 69_37n -1 known missense c.1187 p.D396G 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 63 0 0.00 29 15 34.09 - - - MDGA1 0 genome.wustl.edu 37 6 37611585 37611585 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 37611585 37611585 C T SNP MDGA1 ENST00000297153 human ensembl 69_37n -1 known missense c.2548 p.G850S 0.991 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA1 HGNC ENSG00000112139 84 0 0.00 17 41 70.69 - - - MDH1 0 genome.wustl.edu 37 2 63822565 63822565 + Silent SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 63822565 63822565 T C SNP MDH1 ENST00000539945 human ensembl 69_37n +1 known silent c.165 p.I55 1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 - no_errors MDH1 HGNC ENSG00000014641 99 0 0.00 92 14 13.21 - - - ME2 0 genome.wustl.edu 37 18 48473521 48473521 + Missense_Mutation SNP A A T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 48473521 48473521 A T SNP ME2 ENST00000321341 human ensembl 69_37n +1 known missense c.1722 p.E574D 0.000 NULL pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 93 0 0.00 28 28 50.00 - - - MED13 0 genome.wustl.edu 37 17 60033733 60033733 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 60033733 60033733 G A SNP MED13 ENST00000397786 human ensembl 69_37n -1 known missense c.5590 p.R1864C 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 133 0 0.00 98 21 17.65 - - - MED13 0 genome.wustl.edu 37 17 60050231 60050231 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 60050231 60050231 G A SNP MED13 ENST00000397786 human ensembl 69_37n -1 known missense c.3824 p.S1275L 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 109 0 0.00 46 34 42.50 - - - MED13L 0 genome.wustl.edu 37 12 116457647 116457649 + In_Frame_Del DEL TTC TTC - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 116457647 116457649 TTC - DEL MED13L ENST00000281928 human ensembl 69_37n -1 known in_frame_del c.756_754 p.E252in_frame_del 0.129:0.665:0.695 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 186 0 0.00 149 54 26.34 - - - MEF2C 0 genome.wustl.edu 37 5 88026048 88026048 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 88026048 88026048 C T SNP MEF2C ENST00000437473 human ensembl 69_37n -1 known missense c.814 p.E272K 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 76 0 0.00 40 17 29.82 - - - MGA 0 genome.wustl.edu 37 15 41989020 41989020 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 41989020 41989020 G A SNP MGA ENST00000219905 human ensembl 69_37n +1 known silent c.1812 p.Q604 0.090 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 36 0 0.00 11 15 57.69 - - - MGAM 0 genome.wustl.edu 37 7 141755406 141755406 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 141755406 141755406 C T SNP MGAM ENST00000549489 human ensembl 69_37n +1 known silent c.3363 p.R1121 0.983 superfamily_Glyco_hydro-type_carb-bd 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 175 0 0.00 145 96 39.83 - - - MICAL3 0 genome.wustl.edu 37 22 18314825 18314827 + In_Frame_Del DEL CTC CTC - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 22 18314825 18314827 CTC - DEL MICAL3 ENST00000441493 human ensembl 69_37n -1 known in_frame_del c.2850_2848 p.E950in_frame_del 0.639:0.995:1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 51 0 0.00 44 5 10.20 - - - MKKS 0 genome.wustl.edu 37 20 10393434 10393434 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 10393434 10393434 G A SNP MKKS ENST00000347364 human ensembl 69_37n -1 known silent c.729 p.L243 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors MKKS HGNC ENSG00000125863 118 0 0.00 103 51 33.12 - - - MKNK2 0 genome.wustl.edu 37 19 2039659 2039659 + Frame_Shift_Del DEL C C - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 2039659 2039659 C - DEL MKNK2 ENST00000250896 human ensembl 69_37n -1 known frame_shift_del c.1351 p.A451fs 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 MKNK2 HGNC ENSG00000099875 39 0 0.00 9 2 18.18 - - - MLH3 0 genome.wustl.edu 37 14 75514822 75514822 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 75514822 75514822 G C SNP MLH3 ENST00000355774 human ensembl 69_37n -1 known missense c.1537 p.Q513E 0.094 NULL 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 79 0 0.00 75 39 34.21 - - - MMEL1 0 genome.wustl.edu 37 1 2524347 2524347 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 2524347 2524347 C G SNP MMEL1 ENST00000378412 human ensembl 69_37n -1 known missense c.1926 p.Q642H 0.998 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 102 0 0.00 37 27 42.19 - - - MOCOS 0 genome.wustl.edu 37 18 33795621 33795621 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 33795621 33795621 C T SNP MOCOS ENST00000261326 human ensembl 69_37n +1 known missense c.1478 p.S493L 0.001 NULL pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 60 0 0.00 15 30 66.67 - - - MOCOS 0 genome.wustl.edu 37 18 33848647 33848647 + Frame_Shift_Del DEL A A - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 33848647 33848647 A - DEL MOCOS ENST00000261326 human ensembl 69_37n +1 known frame_shift_del c.2666 p.*889fs 0.029 NULL pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 115 0 0.00 63 30 32.26 - - - MOCS1 0 genome.wustl.edu 37 6 39874156 39874156 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 39874156 39874156 G A SNP MOCS1 ENST00000340692 human ensembl 69_37n -1 known missense c.1888 p.R630W 1.000 superfamily_Mopterin_CF_biosynth-C_dom pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 38 0 0.00 36 8 18.18 - - - MORN3 0 genome.wustl.edu 37 12 122091035 122091035 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 122091035 122091035 C G SNP MORN3 ENST00000355329 human ensembl 69_37n -1 known missense c.594 p.M198I 1.000 NULL pfam_MORN,smart_MORN - no_errors MORN3 HGNC ENSG00000139714 33 0 0.00 10 7 41.18 - - - MPDZ 0 genome.wustl.edu 37 9 13176326 13176326 + Nonsense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 13176326 13176326 C A SNP MPDZ ENST00000319217 human ensembl 69_37n -1 known nonsense c.2740 p.E914* 0.185 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 87 0 0.00 78 56 41.79 - - - MRE11A 0 genome.wustl.edu 37 11 94189498 94189498 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 94189498 94189498 G A SNP MRE11A ENST00000323929 human ensembl 69_37n -1 known missense c.1507 p.R503C 0.980 pirsf_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 196 0 0.00 93 117 55.71 - - - MRPL11 0 genome.wustl.edu 37 11 66204351 66204351 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 66204351 66204351 C A SNP MRPL11 ENST00000329819 human ensembl 69_37n -1 known missense c.503 p.G168V 0.001 NULL pfam_Ribosomal_L11_N,pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_N,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11,tigrfam_Ribosomal_L11_bac-typ - no_errors MRPL11 HGNC ENSG00000174547 129 0 0.00 39 41 51.25 - - - MT1E 0 genome.wustl.edu 37 16 56660528 56660528 + Nonsense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 56660528 56660528 G A SNP MT1E ENST00000330439 human ensembl 69_37n +1 putative nonsense c.179 p.W60* 0.026 NULL pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom - no_errors MT1E HGNC ENSG00000169715 65 0 0.00 45 52 53.61 - - - MTOR 0 genome.wustl.edu 37 1 11210203 11210203 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 11210203 11210203 G A SNP MTOR ENST00000361445 human ensembl 69_37n -1 known missense c.4550 p.A1517V 1.000 pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 74 0 0.00 38 16 29.63 - - - MUC12 0 genome.wustl.edu 37 7 100634086 100634086 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 100634086 100634086 C T SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.671 p.S224L 0.004 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 130 0 0.00 166 74 30.71 - - - MUC16 0 genome.wustl.edu 37 19 9046939 9046939 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 9046939 9046939 C T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.34692 p.L11564 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 216 0 0.00 178 103 36.65 - - - MUC17 0 genome.wustl.edu 37 7 100681242 100681242 + Nonsense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 100681242 100681242 C G SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known nonsense c.6545 p.S2182* 0.119 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 149 0 0.00 164 83 33.60 - - - MUC2 0 genome.wustl.edu 37 11 1093500 1093500 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 1093500 1093500 C T SNP MUC2 ENST00000441003 human ensembl 69_37n +1 known silent c.5319 p.T1773 0.599 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,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 MUC2 HGNC ENSG00000198788 316 0 0.00 152 41 21.24 - - - MUC2 0 genome.wustl.edu 37 11 1093642 1093642 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 1093642 1093642 A G SNP MUC2 ENST00000441003 human ensembl 69_37n +1 known missense c.5461 p.T1821A 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,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 MUC2 HGNC ENSG00000198788 303 0 0.00 96 47 32.87 - - - MUSK 0 genome.wustl.edu 37 9 113449439 113449439 + Silent SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 113449439 113449439 C G SNP MUSK ENST00000189978 human ensembl 69_37n +1 known silent c.249 p.L83 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 154 0 0.00 116 64 35.56 - - - MYBPC2 0 genome.wustl.edu 37 19 50954182 50954182 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 50954182 50954182 C T SNP MYBPC2 ENST00000357701 human ensembl 69_37n +1 known silent c.1569 p.L523 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 38 0 0.00 46 14 23.33 - - - MYH11 0 genome.wustl.edu 37 16 15813521 15813521 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 15813521 15813521 C T SNP MYH11 ENST00000396324 human ensembl 69_37n -1 known missense c.5024 p.R1675K 1.000 pfam_Myosin_tail,superfamily_t-SNARE 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 118 0 0.00 91 38 29.46 - - - MYL6B 0 genome.wustl.edu 37 12 56547854 56547854 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 56547854 56547854 C T SNP MYL6B ENST00000207437 human ensembl 69_37n +1 known missense c.152 p.P51L 0.976 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL6B HGNC ENSG00000196465 96 0 0.00 39 20 33.90 - - - MYO10 0 genome.wustl.edu 37 5 16935899 16935899 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 16935899 16935899 C T SNP MYO10 ENST00000513610 human ensembl 69_37n -1 known missense c.19 p.E7K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 42 0 0.00 7 4 36.36 - - - MYO7B 0 genome.wustl.edu 37 2 128385990 128385990 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 128385990 128385990 G A SNP MYO7B ENST00000389524 human ensembl 69_37n +1 known missense c.4426 p.E1476K 0.892 pfscan_FERM_domain 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 42 0 0.00 19 8 29.63 - - - MYOM1 0 genome.wustl.edu 37 18 3164315 3164315 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 3164315 3164315 C T SNP MYOM1 ENST00000356443 human ensembl 69_37n -1 known missense c.1462 p.E488K 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM1 HGNC ENSG00000101605 98 0 0.00 34 37 52.11 - - - MYOM2 0 genome.wustl.edu 37 8 2017432 2017432 + Missense_Mutation SNP T T G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 2017432 2017432 T G SNP MYOM2 ENST00000262113 human ensembl 69_37n +1 known missense c.689 p.V230G 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 MYOM2 HGNC ENSG00000036448 131 0 0.00 39 59 60.20 - - - NABP2 0 genome.wustl.edu 37 12 56619427 56619427 + Missense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 56619427 56619427 G T SNP NABP2 ENST00000267023 human ensembl 69_37n +1 known missense c.238 p.G80C 1.000 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like - no_errors NABP2 HGNC ENSG00000139579 253 0 0.00 256 112 30.43 - - - NAV2 0 genome.wustl.edu 37 11 19955610 19955610 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 19955610 19955610 G A SNP NAV2 ENST00000396087 human ensembl 69_37n +1 known missense c.1889 p.G630D 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 44 0 0.00 10 10 50.00 - - - NCAM1 0 genome.wustl.edu 37 11 113076329 113076329 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 113076329 113076329 C G SNP NCAM1 ENST00000316851 human ensembl 69_37n +1 known missense c.401 p.S134C 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,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 115 0 0.00 42 37 46.84 - - - NCAPD3 0 genome.wustl.edu 37 11 134038496 134038496 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 134038496 134038496 C G SNP NCAPD3 ENST00000534548 human ensembl 69_37n -1 known missense c.3241 p.E1081Q 1.000 superfamily_ARM-type_fold,pirsf_Condns_HCP-6 superfamily_ARM-type_fold,pirsf_Condns_HCP-6 - no_errors NCAPD3 HGNC ENSG00000151503 134 0 0.00 57 73 56.15 - - - NCKAP5 0 genome.wustl.edu 37 2 133540873 133540873 + Nonsense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 133540873 133540873 C A SNP NCKAP5 ENST00000317721 human ensembl 69_37n -1 known nonsense c.3511 p.E1171* 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 86 0 0.00 66 30 30.61 - - - NCL 0 genome.wustl.edu 37 2 232325216 232325216 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 232325216 232325216 G C SNP NCL ENST00000322723 human ensembl 69_37n -1 known missense c.871 p.P291A 0.995 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 259 0 0.00 192 78 28.89 - - - NECAP1 0 genome.wustl.edu 37 12 8234951 8234951 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 8234951 8234951 C T SNP NECAP1 ENST00000339754 human ensembl 69_37n +1 known missense c.67 p.P23S 1.000 pfam_NECAP-1 pfam_NECAP-1 - no_errors NECAP1 HGNC ENSG00000089818 36 0 0.00 10 13 56.52 - - - NEDD4 0 genome.wustl.edu 37 15 56209009 56209009 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 56209009 56209009 C T SNP NEDD4 ENST00000508342 human ensembl 69_37n -1 known silent c.21 p.L7 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors NEDD4 HGNC ENSG00000069869 63 0 0.00 32 24 42.86 - - - NES 0 genome.wustl.edu 37 1 156639698 156639698 + Nonsense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 156639698 156639698 C A SNP NES ENST00000368223 human ensembl 69_37n -1 known nonsense c.4282 p.E1428* 0.001 NULL pfam_F - no_errors NES HGNC ENSG00000132688 14 0 0.00 13 6 30.00 - - - NES 0 genome.wustl.edu 37 1 156640739 156640739 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 156640739 156640739 C G SNP NES ENST00000368223 human ensembl 69_37n -1 known missense c.3241 p.E1081Q 0.000 NULL pfam_F - no_errors NES HGNC ENSG00000132688 18 0 0.00 3 5 62.50 - - - NF1 0 genome.wustl.edu 37 17 29483062 29483062 + Frame_Shift_Del DEL A A - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 29483062 29483062 A - DEL NF1 ENST00000358273 human ensembl 69_37n +1 known frame_shift_del c.122 p.E41fs 1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 79 0 0.00 45 17 25.76 - - - NFAT5 0 genome.wustl.edu 37 16 69704148 69704148 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 69704148 69704148 C G SNP NFAT5 ENST00000432919 human ensembl 69_37n +1 known missense c.1514 p.S505C 1.000 superfamily_Ig_E-set,smart_IPT_TIG_rcpt 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 51 0 0.00 24 18 42.86 - - - NFATC4 0 genome.wustl.edu 37 14 24837614 24837614 + Frame_Shift_Del DEL C C - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 24837614 24837614 C - DEL NFATC4 ENST00000413692 human ensembl 69_37n +1 known frame_shift_del c.257 p.P88fs 0.992 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 23 0 0.00 3 2 40.00 - - - NID1 0 genome.wustl.edu 37 1 236212244 236212244 + Nonsense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 236212244 236212244 C A SNP NID1 ENST00000264187 human ensembl 69_37n -1 known nonsense c.271 p.E91* 0.059 NULL 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_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,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 NID1 HGNC ENSG00000116962 103 0 0.00 49 14 22.22 - - - NISCH 0 genome.wustl.edu 37 3 52512531 52512531 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 52512531 52512531 C G SNP NISCH ENST00000345716 human ensembl 69_37n +1 known missense c.1240 p.L414V 0.866 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 85 0 0.00 16 26 61.90 - - - NIT2 0 genome.wustl.edu 37 3 100058030 100058030 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 100058030 100058030 C T SNP NIT2 ENST00000394140 human ensembl 69_37n +1 known missense c.107 p.A36V 1.000 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT2 HGNC ENSG00000114021 118 0 0.00 61 8 11.59 - - - NLRC3 0 genome.wustl.edu 37 16 3613884 3613884 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 3613884 3613884 C T SNP NLRC3 ENST00000448023 human ensembl 69_37n -1 known missense c.1195 p.A399T 0.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 27 0 0.00 9 6 40.00 - - - NLRC5 0 genome.wustl.edu 37 16 57103787 57103787 + Frame_Shift_Del DEL C C - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 57103787 57103787 C - DEL NLRC5 ENST00000262510 human ensembl 69_37n +1 known frame_shift_del c.4539 p.L1514fs 0.859 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp 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 25 0 0.00 6 2 25.00 - - - NLRP1 0 genome.wustl.edu 37 17 5436238 5436238 + Missense_Mutation SNP T T A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 5436238 5436238 T A SNP NLRP1 ENST00000572272 human ensembl 69_37n -1 known missense c.3200 p.D1067V 0.000 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 98 0 0.00 38 6 13.64 - - - NLRP9 0 genome.wustl.edu 37 19 56223333 56223333 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 56223333 56223333 C T SNP NLRP9 ENST00000332836 human ensembl 69_37n -1 known silent c.2676 p.L892 0.530 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 45 0 0.00 31 25 44.64 - - - NOMO2 0 genome.wustl.edu 37 16 18573201 18573201 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 18573201 18573201 G C SNP NOMO2 ENST00000381474 human ensembl 69_37n -1 known missense c.162 p.I54M 1.000 superfamily_Collagen-bd_Cna_B-typ_dom pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO2 HGNC ENSG00000185164 11 0 0.00 15 6 28.57 - - - NOP2 0 genome.wustl.edu 37 12 6672330 6672330 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 6672330 6672330 C T SNP NOP2 ENST00000322166 human ensembl 69_37n -1 known missense c.895 p.E299K 0.998 prints_RCMT_NOP2 pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 60 0 0.00 30 19 38.78 - - - NOTCH2 0 genome.wustl.edu 37 1 120462993 120462993 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 120462993 120462993 C T SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known missense c.5338 p.E1780K 0.998 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 100 0 0.00 39 5 11.36 - - - NPC1L1 0 genome.wustl.edu 37 7 44571371 44571371 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 44571371 44571371 C G SNP NPC1L1 ENST00000289547 human ensembl 69_37n -1 known missense c.2620 p.E874Q 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 42 0 0.00 10 5 33.33 - - - NPR1 0 genome.wustl.edu 37 1 153661986 153661986 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 153661986 153661986 G C SNP NPR1 ENST00000368680 human ensembl 69_37n +1 known missense c.2746 p.D916H 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase 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_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 201 0 0.00 140 71 33.65 - - - NPVF 0 genome.wustl.edu 37 7 25266492 25266492 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 25266492 25266492 C G SNP NPVF ENST00000222674 human ensembl 69_37n -1 known missense c.292 p.E98Q 0.980 NULL NULL - no_errors NPVF HGNC ENSG00000105954 197 0 0.00 148 81 35.22 - - - NSMAF 0 genome.wustl.edu 37 8 59498560 59498560 + Splice_Site SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 59498560 59498560 C G SNP NSMAF ENST00000427130 human ensembl 69_37n -1 known splice_site c.2540-1 e29-1 1.000 - - - no_errors NSMAF HGNC ENSG00000035681 77 0 0.00 23 23 50.00 - - - NTRK2 0 genome.wustl.edu 37 9 87342753 87342753 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 87342753 87342753 C T SNP NTRK2 ENST00000277120 human ensembl 69_37n +1 known silent c.1038 p.L346 1.000 pfam_Ig_I-set,prints_Tyr_kinase_NGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,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,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 79 0 0.00 100 25 20.00 - - - NUP205 0 genome.wustl.edu 37 7 135272692 135272692 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 135272692 135272692 C G SNP NUP205 ENST00000285968 human ensembl 69_37n +1 known missense c.1425 p.I475M 0.973 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC ENSG00000155561 87 0 0.00 83 34 29.06 - - - NUP43 0 genome.wustl.edu 37 6 150052790 150052790 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 150052790 150052790 G A SNP NUP43 ENST00000340413 human ensembl 69_37n -1 known missense c.872 p.A291V 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 - no_errors NUP43 HGNC ENSG00000120253 101 0 0.00 86 29 25.22 - - - OBSCN 0 genome.wustl.edu 37 1 228486990 228486990 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 228486990 228486990 G A SNP OBSCN ENST00000366707 human ensembl 69_37n +1 known missense c.3311 p.R1104K 0.042 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,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 27 10 27.03 - - - OBSCN 0 genome.wustl.edu 37 1 228495850 228495850 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 228495850 228495850 G A SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known missense c.12505 p.E4169K 0.970 pfam_Ig_I-set,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 89 0 0.00 107 31 22.46 - - - OBSL1 0 genome.wustl.edu 37 2 220427277 220427277 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 220427277 220427277 C G SNP OBSL1 ENST00000404537 human ensembl 69_37n -1 known missense c.2800 p.D934H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 95 0 0.00 37 12 24.49 - - - OBSL1 0 genome.wustl.edu 37 2 220428119 220428119 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 220428119 220428119 C T SNP OBSL1 ENST00000404537 human ensembl 69_37n -1 known missense c.2638 p.V880I 0.001 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 40 0 0.00 28 12 30.00 - - - OBSL1 0 genome.wustl.edu 37 2 220433035 220433035 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 220433035 220433035 G A SNP OBSL1 ENST00000404537 human ensembl 69_37n -1 known missense c.1024 p.R342W 1.000 pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC ENSG00000124006 17 0 0.00 2 10 83.33 - - - ODZ3 0 genome.wustl.edu 37 4 183600901 183600901 + Missense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 183600901 183600901 G T SNP ODZ3 ENST00000406950 human ensembl 69_37n +1 known missense c.1409 p.R470L 0.970 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ3 HGNC ENSG00000218336 80 0 0.00 27 26 49.06 - - - ONECUT2 0 genome.wustl.edu 37 18 55103687 55103687 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 55103687 55103687 C T SNP ONECUT2 ENST00000262095 human ensembl 69_37n +1 known missense c.739 p.P247S 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors ONECUT2 HGNC ENSG00000119547 32 0 0.00 8 6 42.86 - - - OR10K1 0 genome.wustl.edu 37 1 158435690 158435690 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 158435690 158435690 C T SNP OR10K1 ENST00000289451 human ensembl 69_37n +1 known silent c.339 p.F113 0.996 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 OR10K1 HGNC ENSG00000173285 186 0 0.00 137 74 34.91 - - - OR4D10 0 genome.wustl.edu 37 11 59245060 59245060 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 59245060 59245060 C A SNP OR4D10 ENST00000530162 human ensembl 69_37n +1 known missense c.158 p.S53Y 0.004 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4D10 HGNC ENSG00000254466 96 0 0.00 91 24 20.87 - - - OR5H6 0 genome.wustl.edu 37 3 97983873 97983873 + Missense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 97983873 97983873 G T SNP OR5H6 ENST00000383696 human ensembl 69_37n +1 known missense c.745 p.G249W 0.398 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 OR5H6 HGNC ENSG00000230301 96 0 0.00 53 45 45.92 - - - P2RY4 0 genome.wustl.edu 37 X 69478418 69478418 + Frame_Shift_Del DEL G G - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 69478418 69478418 G - DEL P2RY4 ENST00000374519 human ensembl 69_37n -1 known frame_shift_del c.1057 p.Q353fs 0.000 prints_P2Y4_purnocptor,prints_P2U_purnocptor pfam_7TM_GPCR_Rhodpsn,prints_P2Y4_purnocptor,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2U_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors P2RY4 HGNC ENSG00000186912 58 0 0.00 18 8 30.77 - - - P4HB 0 genome.wustl.edu 37 17 79803764 79803764 + Frame_Shift_Del DEL T T - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 79803764 79803764 T - DEL P4HB ENST00000331483 human ensembl 69_37n -1 known frame_shift_del c.1160 p.N387fs 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 70 0 0.00 27 29 51.79 - - - PACS1 0 genome.wustl.edu 37 11 66009006 66009006 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 66009006 66009006 G C SNP PACS1 ENST00000320580 human ensembl 69_37n +1 known missense c.2538 p.K846N 1.000 pfam_Phosphofurin_acidic_CS-1 pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC ENSG00000175115 49 0 0.00 9 4 30.77 - - - PALB2 0 genome.wustl.edu 37 16 23634364 23634364 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 23634364 23634364 C T SNP PALB2 ENST00000261584 human ensembl 69_37n -1 known silent c.2922 p.K974 0.512 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 145 1 0.68 109 60 35.50 - - - PAPPA 0 genome.wustl.edu 37 9 118973980 118973980 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 118973980 118973980 G A SNP PAPPA ENST00000328252 human ensembl 69_37n +1 known missense c.1687 p.E563K 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 78 0 0.00 42 27 39.13 - - - PAPPA2 0 genome.wustl.edu 37 1 176762724 176762724 + Frame_Shift_Del DEL C C - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 176762724 176762724 C - DEL PAPPA2 ENST00000367662 human ensembl 69_37n +1 known frame_shift_del c.5049 p.S1686fs 0.506 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,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 PAPPA2 HGNC ENSG00000116183 223 0 0.00 260 95 26.69 - - - PAQR6 0 genome.wustl.edu 37 1 156214536 156214536 + Frame_Shift_Del DEL C C - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 156214536 156214536 C - DEL PAQR6 ENST00000335852 human ensembl 69_37n -1 known frame_shift_del c.458 p.G153fs 0.012 NULL pfam_HlyIII-related - no_errors PAQR6 HGNC ENSG00000160781 79 0 0.00 26 22 45.83 - - - PARP15 0 genome.wustl.edu 37 3 122354880 122354880 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 122354880 122354880 C T SNP PARP15 ENST00000464300 human ensembl 69_37n +1 known missense c.1970 p.P657L 0.989 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP15 HGNC ENSG00000173200 104 0 0.00 30 40 57.14 - - - PARP4 0 genome.wustl.edu 37 13 25033251 25033251 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 13 25033251 25033251 C G SNP PARP4 ENST00000381989 human ensembl 69_37n -1 known missense c.2355 p.L785F 0.946 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 105 0 0.00 36 50 58.14 - - - PCDHAC1 0 genome.wustl.edu 37 5 140306817 140306817 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 140306817 140306817 G A SNP PCDHAC1 ENST00000253807 human ensembl 69_37n +1 known missense c.340 p.V114I 0.148 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 34 0 0.00 35 10 22.22 - - - PCDHB7 0 genome.wustl.edu 37 5 140554310 140554310 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 140554310 140554310 G A SNP PCDHB7 ENST00000231137 human ensembl 69_37n +1 known missense c.1894 p.E632K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 27 0 0.00 12 11 47.83 - - - PCDHGA4 0 genome.wustl.edu 37 5 140736993 140736993 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 140736993 140736993 C T SNP PCDHGA4 ENST00000571252 human ensembl 69_37n +1 known silent c.2226 p.G742 0.723 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 97 0 0.00 49 31 38.75 - - - PCSK1 0 genome.wustl.edu 37 5 95768600 95768600 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 95768600 95768600 G A SNP PCSK1 ENST00000311106 human ensembl 69_37n -1 known silent c.147 p.I49 0.995 superfamily_Prot_inh_propept pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 80 0 0.00 40 26 39.39 - - - PDIA2 0 genome.wustl.edu 37 16 336659 336659 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 336659 336659 C T SNP PDIA2 ENST00000219406 human ensembl 69_37n +1 known missense c.1346 p.T449M 0.998 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase - no_errors PDIA2 HGNC ENSG00000185615 41 0 0.00 32 11 25.58 - - - PER2 0 genome.wustl.edu 37 2 239155114 239155114 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 239155114 239155114 C T SNP PER2 ENST00000254657 human ensembl 69_37n -1 known missense c.3670 p.E1224K 0.700 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 96 0 0.00 57 31 35.23 - - - PEX5 0 genome.wustl.edu 37 12 7343048 7343048 + Silent SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 7343048 7343048 C A SNP PEX5 ENST00000434354 human ensembl 69_37n +1 known silent c.75 p.T25 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 77 0 0.00 31 30 49.18 - - - PHACTR1 0 genome.wustl.edu 37 6 13286408 13286408 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 13286408 13286408 A G SNP PHACTR1 ENST00000379335 human ensembl 69_37n +1 known missense c.373 p.K125E 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC ENSG00000112137 105 0 0.00 116 19 14.07 - - - PHF2 0 genome.wustl.edu 37 9 96439925 96439925 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 96439925 96439925 G A SNP PHF2 ENST00000359246 human ensembl 69_37n +1 known silent c.3258 p.L1086 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 89 0 0.00 39 20 33.90 - - - PHIP 0 genome.wustl.edu 37 6 79725353 79725353 + Silent SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 79725353 79725353 G C SNP PHIP ENST00000275034 human ensembl 69_37n -1 known silent c.1383 p.V461 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 122 1 0.81 51 119 70.00 - - - PIAS4 0 genome.wustl.edu 37 19 4028789 4028789 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 4028789 4028789 C T SNP PIAS4 ENST00000262971 human ensembl 69_37n +1 known silent c.744 p.L248 1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS4 HGNC ENSG00000105229 88 0 0.00 12 7 36.84 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 92 0 0.00 28 39 58.21 - - - PIK3CB 0 genome.wustl.edu 37 3 138403593 138403593 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 138403593 138403593 G A SNP PIK3CB ENST00000289153 human ensembl 69_37n -1 known missense c.2189 p.A730V 1.000 superfamily_Kinase-like_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,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 PIK3CB HGNC ENSG00000051382 94 0 0.00 43 30 41.10 - - - PLB1 0 genome.wustl.edu 37 2 28771790 28771790 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 28771790 28771790 C T SNP PLB1 ENST00000422425 human ensembl 69_37n +1 known missense c.1033 p.P345S 1.000 NULL pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type - no_errors PLB1 HGNC ENSG00000163803 73 0 0.00 46 25 35.21 - - - PLEKHG2 0 genome.wustl.edu 37 19 39913648 39913648 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 39913648 39913648 G A SNP PLEKHG2 ENST00000409794 human ensembl 69_37n +1 known missense c.1954 p.E652K 0.001 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 35 0 0.00 20 8 28.57 - - - PLEKHH2 0 genome.wustl.edu 37 2 43871929 43871929 + Silent SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 43871929 43871929 A G SNP PLEKHH2 ENST00000282406 human ensembl 69_37n +1 known silent c.117 p.A39 1.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 89 0 0.00 49 36 42.35 - - - PLIN1 0 genome.wustl.edu 37 15 90214720 90214720 + Frame_Shift_Del DEL G G - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 90214720 90214720 G - DEL PLIN1 ENST00000300055 human ensembl 69_37n -1 known frame_shift_del c.326 p.P109fs 0.988 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN1 HGNC ENSG00000166819 41 0 0.00 4 3 42.86 - - - PLVAP 0 genome.wustl.edu 37 19 17487862 17487862 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 17487862 17487862 G A SNP PLVAP ENST00000252590 human ensembl 69_37n -1 known missense c.236 p.A79V 0.245 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 105 0 0.00 80 36 31.03 - - - PLXNC1 0 genome.wustl.edu 37 12 94634314 94634314 + Nonsense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 94634314 94634314 C G SNP PLXNC1 ENST00000258526 human ensembl 69_37n +1 known nonsense c.2174 p.S725* 0.973 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC ENSG00000136040 185 0 0.00 132 71 34.98 - - - PNISR 0 genome.wustl.edu 37 6 99849343 99849343 + Frame_Shift_Del DEL T T - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 99849343 99849343 T - DEL PNISR ENST00000369239 human ensembl 69_37n -1 known frame_shift_del c.1491 p.E498fs 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 155 0 0.00 128 59 31.05 - - - PNKP 0 genome.wustl.edu 37 19 50367244 50367244 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 50367244 50367244 C G SNP PNKP ENST00000322344 human ensembl 69_37n -1 known missense c.721 p.E241Q 1.000 pfam_PNK3P,superfamily_HAD-like_dom,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC ENSG00000039650 68 0 0.00 26 15 36.59 - - - PNMA3 0 genome.wustl.edu 37 X 152226242 152226242 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 152226242 152226242 G C SNP PNMA3 ENST00000370264 human ensembl 69_37n +1 known missense c.830 p.R277T 0.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 112 0 0.00 40 37 48.05 - - - PODXL 0 genome.wustl.edu 37 7 131189073 131189073 + Silent SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 131189073 131189073 G T SNP PODXL ENST00000541194 human ensembl 69_37n -1 known silent c.1680 p.L560 1.000 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 - no_errors PODXL HGNC ENSG00000128567 59 0 0.00 33 20 37.74 - - - POGLUT1 0 genome.wustl.edu 37 3 119209419 119209419 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 119209419 119209419 C T SNP POGLUT1 ENST00000295588 human ensembl 69_37n +1 known silent c.819 p.G273 0.989 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 230 0 0.00 167 42 20.00 - - - PON1 0 genome.wustl.edu 37 7 94935641 94935641 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 94935641 94935641 G A SNP PON1 ENST00000222381 human ensembl 69_37n -1 known missense c.736 p.H246Y 1.000 pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 89 0 0.00 88 37 29.60 - - - POU4F1 0 genome.wustl.edu 37 13 79175724 79175724 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 13 79175724 79175724 G A SNP POU4F1 ENST00000377208 human ensembl 69_37n -1 known silent c.1086 p.I362 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_POU 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 - no_errors POU4F1 HGNC ENSG00000152192 78 0 0.00 11 12 50.00 - - - POU5F1B 0 genome.wustl.edu 37 8 128429115 128429115 + Nonsense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 128429115 128429115 C G SNP POU5F1B ENST00000391675 human ensembl 69_37n +1 known nonsense c.1004 p.S335* 0.043 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,prints_POU,pfscan_Homeodomain,pfscan_POU_specific - no_errors POU5F1B HGNC ENSG00000212993 101 0 0.00 33 42 56.00 - - - PPP1R9A 0 genome.wustl.edu 37 7 94539589 94539589 + Frame_Shift_Del DEL G G - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 94539589 94539589 G - DEL PPP1R9A ENST00000289495 human ensembl 69_37n +1 known frame_shift_del c.164 p.R57fs 1.000 NULL 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 50 0 0.00 25 13 34.21 - - - PRICKLE1 0 genome.wustl.edu 37 12 42854279 42854279 + Nonsense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 42854279 42854279 C A SNP PRICKLE1 ENST00000345127 human ensembl 69_37n -1 known nonsense c.1828 p.E610* 0.024 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 91 0 0.00 69 42 37.84 - - - PRKCD 0 genome.wustl.edu 37 3 53213754 53213754 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 53213754 53213754 G A SNP PRKCD ENST00000330452 human ensembl 69_37n +1 known missense c.277 p.E93K 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,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 45 0 0.00 14 21 60.00 - - - PRKD2 0 genome.wustl.edu 37 19 47192823 47192823 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 47192823 47192823 C T SNP PRKD2 ENST00000291281 human ensembl 69_37n -1 known missense c.1942 p.E648K 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_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,prints_DAG/PE-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors PRKD2 HGNC ENSG00000105287 113 0 0.00 70 38 35.19 - - - PRKD3 0 genome.wustl.edu 37 2 37499526 37499526 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 37499526 37499526 A G SNP PRKD3 ENST00000452104 human ensembl 69_37n -1 novel missense c.41 p.M14T 1.000 superfamily_Kinase-like_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_start_codon:pseudogene:no_stop_codon PRKD3 HGNC ENSG00000115825 51 0 0.00 48 24 33.33 - - - PRLR 0 genome.wustl.edu 37 5 35065595 35065595 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 35065595 35065595 C T SNP PRLR ENST00000382002 human ensembl 69_37n -1 known missense c.1465 p.D489N 0.046 NULL pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 97 0 0.00 53 32 37.65 - - - PROSC 0 genome.wustl.edu 37 8 37630348 37630348 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 37630348 37630348 G C SNP PROSC ENST00000328195 human ensembl 69_37n +1 known missense c.395 p.R132T 0.997 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 - no_errors PROSC HGNC ENSG00000147471 80 0 0.00 42 46 52.27 - - - PRPF39 0 genome.wustl.edu 37 14 45565402 45565402 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 45565402 45565402 C T SNP PRPF39 ENST00000355765 human ensembl 69_37n +1 known missense c.421 p.R141W 1.000 smart_HAT smart_HAT - no_errors PRPF39 HGNC ENSG00000185246 82 0 0.00 91 23 20.18 - - - PRPF4B 0 genome.wustl.edu 37 6 4037711 4037713 + In_Frame_Del DEL GAA GAA - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 4037711 4037713 GAA - DEL PRPF4B ENST00000337659 human ensembl 69_37n +1 known in_frame_del c.1319_1321 p.R442in_frame_del 1.000:0.998:1.000 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 PRPF4B HGNC ENSG00000112739 73 0 0.00 35 37 50.00 - - - PRPF8 0 genome.wustl.edu 37 17 1554841 1554841 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 1554841 1554841 C T SNP PRPF8 ENST00000304992 human ensembl 69_37n -1 known missense c.6517 p.E2173K 1.000 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 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 95 0 0.00 23 25 52.08 - - - PRSS55 0 genome.wustl.edu 37 8 10390543 10390543 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 10390543 10390543 C T SNP PRSS55 ENST00000328655 human ensembl 69_37n +1 known silent c.726 p.S242 0.003 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS55 HGNC ENSG00000184647 99 0 0.00 77 15 16.30 - - - PRX 0 genome.wustl.edu 37 19 40900900 40900900 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 40900900 40900900 C T SNP PRX ENST00000324001 human ensembl 69_37n -1 known missense c.3359 p.G1120E 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 34 0 0.00 6 6 50.00 - - - PSD2 0 genome.wustl.edu 37 5 139193060 139193060 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 139193060 139193060 C A SNP PSD2 ENST00000274710 human ensembl 69_37n +1 known missense c.538 p.L180I 1.000 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors PSD2 HGNC ENSG00000146005 39 0 0.00 8 4 33.33 - - - PSG2 0 genome.wustl.edu 37 19 43585326 43585326 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 43585326 43585326 G A SNP PSG2 ENST00000329509 human ensembl 69_37n -1 known missense c.137 p.S46F 0.004 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 PSG2 HGNC ENSG00000242221 175 0 0.00 60 86 58.90 - - - PSMD1 0 genome.wustl.edu 37 2 232035319 232035319 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 232035319 232035319 G C SNP PSMD1 ENST00000308696 human ensembl 69_37n +1 known missense c.2755 p.E919Q 1.000 pirsf_26S_Psome_Rpn2 pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 107 0 0.00 81 34 29.57 - - - PSMD12 0 genome.wustl.edu 37 17 65341877 65341877 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 65341877 65341877 C G SNP PSMD12 ENST00000356126 human ensembl 69_37n -1 known missense c.892 p.E298Q 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors PSMD12 HGNC ENSG00000197170 194 0 0.00 92 93 50.27 - - - PSME4 0 genome.wustl.edu 37 2 54155412 54155412 + Nonsense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 54155412 54155412 C A SNP PSME4 ENST00000404125 human ensembl 69_37n -1 known nonsense c.1345 p.E449* 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 98 0 0.00 54 22 28.95 - - - PTCD1 0 genome.wustl.edu 37 7 99032720 99032720 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 99032720 99032720 G A SNP PTCD1 ENST00000555673 human ensembl 69_37n -1 known missense c.293 p.S98F 0.808 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors PTCD1 HGNC ENSG00000106246 40 0 0.00 20 7 25.93 - - - PTCH1 0 genome.wustl.edu 37 9 98209244 98209244 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 98209244 98209244 G A SNP PTCH1 ENST00000331920 human ensembl 69_37n -1 known silent c.4294 p.L1432 1.000 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 60 0 0.00 25 17 40.48 - - - PTEN 0 genome.wustl.edu 37 10 89692886 89692886 + Missense_Mutation SNP T T G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 89692886 89692886 T G SNP PTEN ENST00000371953 human ensembl 69_37n +1 known missense c.370 p.C124G 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 104 0 0.00 61 72 54.14 - - - PTGS2 0 genome.wustl.edu 37 1 186643896 186643896 + Splice_Site SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 186643896 186643896 T C SNP PTGS2 ENST00000367468 human ensembl 69_37n -1 known splice_site c.1406-2 e10-2 1.000 - - - no_errors PTGS2 HGNC ENSG00000073756 58 0 0.00 67 25 27.17 - - - PTGS2 0 genome.wustl.edu 37 1 186648511 186648511 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 186648511 186648511 C T SNP PTGS2 ENST00000367468 human ensembl 69_37n -1 known missense c.112 p.D38N 1.000 pfscan_EG-like_dom pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal - no_errors PTGS2 HGNC ENSG00000073756 116 0 0.00 117 45 27.78 - - - PTK7 0 genome.wustl.edu 37 6 43109509 43109509 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 43109509 43109509 C T SNP PTK7 ENST00000230419 human ensembl 69_37n +1 known silent c.1722 p.N574 0.760 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors PTK7 HGNC ENSG00000112655 65 0 0.00 31 8 20.51 - - - PTPN3 0 genome.wustl.edu 37 9 112168784 112168784 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 112168784 112168784 C G SNP PTPN3 ENST00000374541 human ensembl 69_37n -1 known missense c.1750 p.E584Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,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 110 0 0.00 83 33 28.45 - - - PTPRM 0 genome.wustl.edu 37 18 7888192 7888192 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 7888192 7888192 C T SNP PTPRM ENST00000400060 human ensembl 69_37n +1 known silent c.285 p.H95 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,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 PTPRM HGNC ENSG00000173482 140 0 0.00 49 56 53.33 - - - PTPRT 0 genome.wustl.edu 37 20 41419914 41419914 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 41419914 41419914 C A SNP PTPRT ENST00000373198 human ensembl 69_37n -1 known missense c.407 p.W136L 1.000 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,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,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 PTPRT HGNC ENSG00000196090 43 0 0.00 30 7 18.92 - - - PTPRT 0 genome.wustl.edu 37 20 41420063 41420063 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 41420063 41420063 C T SNP PTPRT ENST00000373198 human ensembl 69_37n -1 known silent c.258 p.Q86 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,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 PTPRT HGNC ENSG00000196090 61 0 0.00 30 9 23.08 - - - PYGB 0 genome.wustl.edu 37 20 25239910 25239910 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 25239910 25239910 G A SNP PYGB ENST00000216962 human ensembl 69_37n +1 known missense c.281 p.R94H 1.000 pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 100 0 0.00 59 35 37.23 - - - PYGM 0 genome.wustl.edu 37 11 64525980 64525980 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 64525980 64525980 A G SNP PYGM ENST00000164139 human ensembl 69_37n -1 known missense c.353 p.L118P 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 47 0 0.00 18 4 18.18 - - - RAD50 0 genome.wustl.edu 37 5 131924411 131924411 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 131924411 131924411 G C SNP RAD50 ENST00000265335 human ensembl 69_37n +1 known missense c.1084 p.E362Q 1.000 tigrfam_Rad50 pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50 - no_errors RAD50 HGNC ENSG00000113522 51 0 0.00 77 28 26.67 - - - RALGAPA2 0 genome.wustl.edu 37 20 20610050 20610050 + Nonsense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 20610050 20610050 G C SNP RALGAPA2 ENST00000202677 human ensembl 69_37n -1 known nonsense c.1190 p.S397* 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC ENSG00000188559 117 0 0.00 82 42 33.87 - - - RAP1B 0 genome.wustl.edu 37 12 69042554 69042554 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 69042554 69042554 C G SNP RAP1B ENST00000250559 human ensembl 69_37n +1 known missense c.50 p.S17C 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,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 RAP1B HGNC ENSG00000127314 126 0 0.00 144 58 28.57 - - - RAPGEF6 0 genome.wustl.edu 37 5 130764664 130764664 + Nonsense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 130764664 130764664 G A SNP RAPGEF6 ENST00000509018 human ensembl 69_37n -1 known nonsense c.4711 p.Q1571* 1.000 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,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 RAPGEF6 HGNC ENSG00000158987 98 0 0.00 51 41 44.57 - - - RBM20 0 genome.wustl.edu 37 10 112581589 112581589 + Frame_Shift_Del DEL C C - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 112581589 112581589 C - DEL RBM20 ENST00000369519 human ensembl 69_37n +1 known frame_shift_del c.3212 p.E1073fs 0.229 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC ENSG00000203867 48 0 0.00 9 8 44.44 - - - RBM28 0 genome.wustl.edu 37 7 127975956 127975956 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 127975956 127975956 C T SNP RBM28 ENST00000223073 human ensembl 69_37n -1 known missense c.754 p.E252K 0.010 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM28 HGNC ENSG00000106344 356 0 0.00 308 146 32.16 - - - RBM44 0 genome.wustl.edu 37 2 238725800 238725800 + Frame_Shift_Del DEL T T - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 238725800 238725800 T - DEL RBM44 ENST00000316997 human ensembl 69_37n +1 known frame_shift_del c.241 p.S83fs 0.003 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 42 0 0.00 38 11 22.45 - - - REN 0 genome.wustl.edu 37 1 204125433 204125433 + Nonsense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 204125433 204125433 G T SNP REN ENST00000272190 human ensembl 69_37n -1 known nonsense c.833 p.S278* 0.084 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors REN HGNC ENSG00000143839 39 0 0.00 27 11 28.95 - - - RET 0 genome.wustl.edu 37 10 43615122 43615122 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 43615122 43615122 C A SNP RET ENST00000355710 human ensembl 69_37n +1 known missense c.2536 p.L846I 0.990 pirsf_Tyr_kinase_Ret_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_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 22 0 0.00 6 8 57.14 - - - RIT2 0 genome.wustl.edu 37 18 40503615 40503615 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 40503615 40503615 G A SNP RIT2 ENST00000590910 human ensembl 69_37n -1 novel missense c.410 p.S137L 1.000 smart_Small_GTPase_Ras pfam_Small_GTPase,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT2 HGNC ENSG00000152214 49 0 0.00 32 26 44.83 - - - RLN2 0 genome.wustl.edu 37 9 5300362 5300362 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 5300362 5300362 C T SNP RLN2 ENST00000381627 human ensembl 69_37n -1 known silent c.294 p.L98 0.003 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN2 HGNC ENSG00000107014 191 0 0.00 151 63 29.44 - - - RNF103 0 genome.wustl.edu 37 2 86831694 86831694 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 86831694 86831694 T C SNP RNF103 ENST00000237455 human ensembl 69_37n -1 known missense c.1330 p.N444D 0.279 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 103 0 0.00 108 43 28.48 - - - RPL13A 0 genome.wustl.edu 37 19 49994349 49994349 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 49994349 49994349 C T SNP RPL13A ENST00000391857 human ensembl 69_37n +1 known missense c.395 p.T132I 0.948 superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc - no_errors RPL13A HGNC ENSG00000142541 50 0 0.00 32 16 33.33 - - - RPTOR 0 genome.wustl.edu 37 17 78931483 78931483 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 78931483 78931483 G A SNP RPTOR ENST00000306801 human ensembl 69_37n +1 known missense c.3430 p.V1144M 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 73 0 0.00 23 15 39.47 - - - RUFY1 0 genome.wustl.edu 37 5 179004109 179004109 + Missense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 179004109 179004109 G T SNP RUFY1 ENST00000319449 human ensembl 69_37n +1 known missense c.862 p.D288Y 1.000 NULL pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING - no_errors RUFY1 HGNC ENSG00000176783 267 0 0.00 189 108 36.36 - - - RUNDC1 0 genome.wustl.edu 37 17 41139393 41139393 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 41139393 41139393 G A SNP RUNDC1 ENST00000361677 human ensembl 69_37n +1 known missense c.619 p.D207N 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC ENSG00000198863 66 0 0.00 20 29 59.18 - - - RYR2 0 genome.wustl.edu 37 1 237532877 237532877 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 237532877 237532877 C T SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.347 p.A116V 1.000 pfam_Ins145_P3_rcpt,superfamily_MIR,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif 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 207 0 0.00 229 72 23.84 - - - S1PR3 0 genome.wustl.edu 37 9 91617141 91617141 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 91617141 91617141 C T SNP S1PR3 ENST00000358157 human ensembl 69_37n +1 known silent c.1026 p.S342 1.000 prints_EDG1_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_EDG3_rcpt,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt - no_errors S1PR3 HGNC ENSG00000213694 62 0 0.00 28 14 33.33 - - - SACS 0 genome.wustl.edu 37 13 23909883 23909883 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 13 23909883 23909883 G A SNP SACS ENST00000382292 human ensembl 69_37n -1 known missense c.8132 p.S2711L 1.000 superfamily_ATPase-like_ATP-bd 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 65 0 0.00 49 11 18.33 - - - SAMD9 0 genome.wustl.edu 37 7 92733848 92733848 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 92733848 92733848 G A SNP SAMD9 ENST00000379958 human ensembl 69_37n -1 known silent c.1563 p.V521 0.987 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 76 0 0.00 62 24 27.91 - - - SCAF8 0 genome.wustl.edu 37 6 155148305 155148305 + Splice_Site SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 155148305 155148305 G T SNP SCAF8 ENST00000367186 human ensembl 69_37n +1 known splice_site c.2270-1 e20-1 1.000 - - - no_errors SCAF8 HGNC ENSG00000213079 134 0 0.00 31 68 68.69 - - - SCN3A 0 genome.wustl.edu 37 2 165972038 165972040 + In_Frame_Del DEL AAC AAC - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 165972038 165972040 AAC - DEL SCN3A ENST00000283254 human ensembl 69_37n -1 known in_frame_del c.3441_3439 p.V1147in_frame_del 0.987:1.000:1.000 pfam_Na_trans_assoc 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 144 0 0.00 105 46 30.07 - - - SCN7A 0 genome.wustl.edu 37 2 167289026 167289026 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 167289026 167289026 C T SNP SCN7A ENST00000409855 human ensembl 69_37n -1 known silent c.2394 p.L798 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 186 0 0.00 186 77 29.28 - - - SDK2 0 genome.wustl.edu 37 17 71431698 71431698 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 71431698 71431698 G A SNP SDK2 ENST00000392650 human ensembl 69_37n -1 known silent c.1086 p.D362 0.467 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 45 0 0.00 6 7 53.85 - - - SEC14L3 0 genome.wustl.edu 37 22 30857624 30857624 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 22 30857624 30857624 G C SNP SEC14L3 ENST00000215812 human ensembl 69_37n -1 known missense c.829 p.Q277E 0.870 superfamily_GOLD,pfscan_GOLD pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L3 HGNC ENSG00000100012 82 0 0.00 25 39 60.94 - - - SEMA3A 0 genome.wustl.edu 37 7 83764203 83764203 + Silent SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 83764203 83764203 G T SNP SEMA3A ENST00000265362 human ensembl 69_37n -1 known silent c.177 p.T59 0.973 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3A HGNC ENSG00000075213 108 0 0.00 73 25 25.51 - - - SEMA3C 0 genome.wustl.edu 37 7 80374310 80374310 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 80374310 80374310 C T SNP SEMA3C ENST00000544525 human ensembl 69_37n -1 known missense c.2210 p.G737E 0.011 NULL pfam_Semaphorin/CD100_Ag,pfam_Ig_I-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3C HGNC ENSG00000075223 149 0 0.00 120 45 27.27 - - - SEMA4F 0 genome.wustl.edu 37 2 74906801 74906801 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 74906801 74906801 G C SNP SEMA4F ENST00000357877 human ensembl 69_37n +1 known missense c.1778 p.W593S 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 SEMA4F HGNC ENSG00000135622 97 0 0.00 66 34 34.00 - - - SEMA6D 0 genome.wustl.edu 37 15 48056840 48056840 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 48056840 48056840 G A SNP SEMA6D ENST00000316364 human ensembl 69_37n +1 known missense c.1103 p.G368D 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag 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 SEMA6D HGNC ENSG00000137872 55 0 0.00 33 9 21.43 - - - SERPINA11 0 genome.wustl.edu 37 14 94909049 94909049 + Nonsense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 94909049 94909049 G C SNP SERPINA11 ENST00000334708 human ensembl 69_37n -1 known nonsense c.1163 p.S388* 0.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINA11 HGNC ENSG00000186910 114 1 0.87 42 20 32.26 - - - SERPINB3 0 genome.wustl.edu 37 18 61325785 61325785 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 61325785 61325785 C T SNP SERPINB3 ENST00000283752 human ensembl 69_37n -1 known missense c.431 p.R144Q 0.015 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB3 HGNC ENSG00000057149 221 0 0.00 108 100 48.08 - - - SERPINB4 0 genome.wustl.edu 37 18 61305175 61305175 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 61305175 61305175 C T SNP SERPINB4 ENST00000341074 human ensembl 69_37n -1 known missense c.951 p.M317I 0.998 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB4 HGNC ENSG00000206073 115 0 0.00 50 50 50.00 - - - SERTAD2 0 genome.wustl.edu 37 2 64863616 64863616 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 64863616 64863616 G A SNP SERTAD2 ENST00000313349 human ensembl 69_37n -1 known silent c.390 p.L130 1.000 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD2 HGNC ENSG00000179833 70 0 0.00 39 8 17.02 - - - SERTM1 0 genome.wustl.edu 37 13 37269304 37269304 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 13 37269304 37269304 C T SNP SERTM1 ENST00000315190 human ensembl 69_37n +1 known missense c.89 p.S30L 0.097 NULL NULL - no_errors SERTM1 HGNC ENSG00000180440 119 0 0.00 46 39 45.88 - - - SETBP1 0 genome.wustl.edu 37 18 42532585 42532585 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 42532585 42532585 C G SNP SETBP1 ENST00000282030 human ensembl 69_37n +1 known missense c.3280 p.Q1094E 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 84 0 0.00 23 27 54.00 - - - SFSWAP 0 genome.wustl.edu 37 12 132249183 132249183 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 132249183 132249183 G A SNP SFSWAP ENST00000261674 human ensembl 69_37n +1 known missense c.1903 p.E635K 0.999 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 55 0 0.00 56 23 29.11 - - - SGSM1 0 genome.wustl.edu 37 22 25272622 25272622 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 22 25272622 25272622 C T SNP SGSM1 ENST00000400359 human ensembl 69_37n +1 known missense c.1535 p.S512L 1.000 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 133 0 0.00 37 34 47.89 - - - SGSM3 0 genome.wustl.edu 37 22 40800417 40800417 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 22 40800417 40800417 C T SNP SGSM3 ENST00000248929 human ensembl 69_37n +1 known silent c.324 p.R108 0.989 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC ENSG00000100359 60 0 0.00 9 14 60.87 - - - SH2B1 0 genome.wustl.edu 37 16 28885049 28885049 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 28885049 28885049 C A SNP SH2B1 ENST00000322610 human ensembl 69_37n +1 known missense c.2179 p.P727T 0.002 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,prints_SH2,pfscan_SH2 - no_errors SH2B1 HGNC ENSG00000178188 59 0 0.00 15 6 28.57 - - - SH3BP4 0 genome.wustl.edu 37 2 235950796 235950796 + Silent SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 235950796 235950796 C G SNP SH3BP4 ENST00000344528 human ensembl 69_37n +1 known silent c.1383 p.L461 0.618 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 37 0 0.00 23 14 37.84 - - - SIGLEC16 0 genome.wustl.edu 37 19 50475228 50475228 + Frame_Shift_Del DEL C C - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 50475228 50475228 C - DEL SIGLEC16 ENST00000456956 human ensembl 69_37n +1 known frame_shift_del c.1149 p.S385fs 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC16 HGNC ENSG00000161643 34 0 0.00 13 9 39.13 - - - SKIV2L 0 genome.wustl.edu 37 6 31930342 31930342 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 31930342 31930342 C T SNP SKIV2L ENST00000375394 human ensembl 69_37n +1 known silent c.1191 p.I397 0.999 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 51 0 0.00 8 29 78.38 - - - SLC1A6 0 genome.wustl.edu 37 19 15083567 15083567 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 15083567 15083567 G A SNP SLC1A6 ENST00000430939 human ensembl 69_37n -1 known missense c.169 p.P57S 1.000 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 35 0 0.00 23 9 28.12 - - - SLC25A34 0 genome.wustl.edu 37 1 16065220 16065220 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 16065220 16065220 C T SNP SLC25A34 ENST00000294454 human ensembl 69_37n +1 known silent c.729 p.G243 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 SLC25A34 HGNC ENSG00000162461 58 0 0.00 11 5 31.25 - - - SLC26A9 0 genome.wustl.edu 37 1 205904876 205904876 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 205904876 205904876 C G SNP SLC26A9 ENST00000340781 human ensembl 69_37n -1 known missense c.73 p.E25Q 1.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 194 0 0.00 172 56 24.56 - - - SLC46A1 0 genome.wustl.edu 37 17 26727696 26727696 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 26727696 26727696 G C SNP SLC46A1 ENST00000440501 human ensembl 69_37n -1 known missense c.1252 p.L418V 0.965 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC46A1 HGNC ENSG00000076351 55 0 0.00 32 4 11.11 - - - SLC4A3 0 genome.wustl.edu 37 2 220505649 220505649 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 220505649 220505649 C T SNP SLC4A3 ENST00000273063 human ensembl 69_37n +1 known silent c.3667 p.L1223 0.999 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 98 0 0.00 31 11 26.19 - - - SLC4A4 0 genome.wustl.edu 37 4 72400045 72400045 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 72400045 72400045 G A SNP SLC4A4 ENST00000425175 human ensembl 69_37n +1 known silent c.2382 p.L794 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,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 SLC4A4 HGNC ENSG00000080493 92 0 0.00 26 40 60.61 - - - SLC5A2 0 genome.wustl.edu 37 16 31499002 31499002 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 31499002 31499002 C T SNP SLC5A2 ENST00000330498 human ensembl 69_37n +1 known silent c.807 p.P269 0.999 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 SLC5A2 HGNC ENSG00000140675 29 0 0.00 4 15 78.95 - - - SLC6A11 0 genome.wustl.edu 37 3 10970889 10970889 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 10970889 10970889 T C SNP SLC6A11 ENST00000254488 human ensembl 69_37n +1 known missense c.1235 p.F412S 1.000 pfam_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 1 0.45 137 19 12.18 - - - SLC9A5 0 genome.wustl.edu 37 16 67289057 67289057 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 67289057 67289057 C T SNP SLC9A5 ENST00000566626 human ensembl 69_37n +1 putative missense c.170 p.A57V 0.999 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - pseudogene:no_stop_codon SLC9A5 HGNC ENSG00000135740 101 0 0.00 66 21 24.14 - - - SLC9C2 0 genome.wustl.edu 37 1 173499130 173499130 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 173499130 173499130 A G SNP SLC9C2 ENST00000367714 human ensembl 69_37n -1 known missense c.2227 p.Y743H 0.992 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 222 1 0.45 173 101 36.86 - - - SLCO4A1 0 genome.wustl.edu 37 20 61300421 61300421 + Silent SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 61300421 61300421 C G SNP SLCO4A1 ENST00000217159 human ensembl 69_37n +1 known silent c.2016 p.L672 0.011 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 SLCO4A1 HGNC ENSG00000101187 52 0 0.00 16 12 42.86 - - - SLIT2 0 genome.wustl.edu 37 4 20521058 20521058 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 20521058 20521058 T C SNP SLIT2 ENST00000504154 human ensembl 69_37n +1 known missense c.1112 p.L371P 0.999 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp 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 94 0 0.00 78 34 30.36 - - - SLX4 0 genome.wustl.edu 37 16 3658860 3658860 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 3658860 3658860 C T SNP SLX4 ENST00000294008 human ensembl 69_37n -1 known missense c.106 p.E36K 0.003 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 73 0 0.00 88 40 31.25 - - - SMG7 0 genome.wustl.edu 37 1 183519915 183519915 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 183519915 183519915 C T SNP SMG7 ENST00000507469 human ensembl 69_37n +1 known missense c.3025 p.H1009Y 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 133 0 0.00 134 58 30.21 - - - SMOC2 0 genome.wustl.edu 37 6 168949861 168949861 + Missense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 168949861 168949861 G T SNP SMOC2 ENST00000354536 human ensembl 69_37n +1 known missense c.648 p.Q216H 1.000 superfamily_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 99 0 0.00 85 33 27.97 - - - SNED1 0 genome.wustl.edu 37 2 241969770 241969770 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 241969770 241969770 G A SNP SNED1 ENST00000310397 human ensembl 69_37n +1 known missense c.283 p.A95T 1.000 NULL pfam_EGF-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 62 0 0.00 43 19 30.65 - - - SOGA1 0 genome.wustl.edu 37 20 35414897 35414897 + Frame_Shift_Del DEL G G - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 35414897 35414897 G - DEL SOGA1 ENST00000357779 human ensembl 69_37n -1 known frame_shift_del c.4263 p.S1422fs 0.644 NULL pfam_DUF3166 - no_errors SOGA1 HGNC ENSG00000149639 30 0 0.00 8 5 33.33 - - - SOX30 0 genome.wustl.edu 37 5 157053418 157053418 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 157053418 157053418 G C SNP SOX30 ENST00000265007 human ensembl 69_37n -1 known missense c.2192 p.S731C 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX30 HGNC ENSG00000039600 108 0 0.00 87 42 32.56 - - - SOX30 0 genome.wustl.edu 37 5 157065288 157065288 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 157065288 157065288 G C SNP SOX30 ENST00000265007 human ensembl 69_37n -1 known missense c.1830 p.F610L 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX30 HGNC ENSG00000039600 76 0 0.00 30 13 30.23 - - - SPATA7 0 genome.wustl.edu 37 14 88904306 88904306 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 88904306 88904306 C T SNP SPATA7 ENST00000393545 human ensembl 69_37n +1 known missense c.1340 p.S447L 0.038 NULL NULL - no_errors SPATA7 HGNC ENSG00000042317 74 0 0.00 61 27 30.68 - - - SPEN 0 genome.wustl.edu 37 1 16255589 16255589 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 16255589 16255589 G A SNP SPEN ENST00000375759 human ensembl 69_37n +1 known missense c.2854 p.V952M 0.001 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 46 0 0.00 14 13 48.15 - - - SPEN 0 genome.wustl.edu 37 1 16265817 16265817 + Silent SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 16265817 16265817 G T SNP SPEN ENST00000375759 human ensembl 69_37n +1 known silent c.10890 p.P3630 0.923 pfam_SPOC_C,superfamily_SPOC-like,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 165 0 0.00 29 33 53.23 - - - SPTBN4 0 genome.wustl.edu 37 19 41019290 41019290 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 41019290 41019290 A G SNP SPTBN4 ENST00000352632 human ensembl 69_37n +1 known missense c.2594 p.E865G 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,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 SPTBN4 HGNC ENSG00000160460 29 0 0.00 9 4 30.77 - - - SRC 0 genome.wustl.edu 37 20 36026204 36026204 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 36026204 36026204 C T SNP SRC ENST00000360723 human ensembl 69_37n +1 known missense c.824 p.S275L 1.000 superfamily_Kinase-like_dom 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 SRC HGNC ENSG00000197122 32 0 0.00 16 8 33.33 - - - SRPK3 0 genome.wustl.edu 37 X 153047644 153047644 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 153047644 153047644 C A SNP SRPK3 ENST00000430541 human ensembl 69_37n +1 putative missense c.497 p.S166Y 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SRPK3 HGNC ENSG00000184343 89 0 0.00 30 27 47.37 - - - ST6GAL2 0 genome.wustl.edu 37 2 107423287 107423287 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 107423287 107423287 G A SNP ST6GAL2 ENST00000361803 human ensembl 69_37n -1 known missense c.133 p.R45W 0.851 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ST6GAL2 HGNC ENSG00000144057 65 0 0.00 42 13 23.21 - - - STAG3L3 0 genome.wustl.edu 37 7 72470029 72470029 + Silent SNP T T A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 72470029 72470029 T A SNP STAG3L3 ENST00000308103 human ensembl 69_37n -1 known silent c.312 p.A104 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors STAG3L3 HGNC ENSG00000174353 350 0 0.00 352 102 22.47 - - - STARD9 0 genome.wustl.edu 37 15 42973719 42973719 + Missense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 42973719 42973719 G T SNP STARD9 ENST00000290607 human ensembl 69_37n +1 known missense c.1974 p.E658D 0.992 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 65 0 0.00 23 16 41.03 - - - STAT1 0 genome.wustl.edu 37 2 191843677 191843677 + Missense_Mutation SNP T T A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 191843677 191843677 T A SNP STAT1 ENST00000361099 human ensembl 69_37n -1 known missense c.1778 p.D593V 1.000 pfam_SH2,pfscan_SH2 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 45 0 0.00 17 10 37.04 - - - STK33 0 genome.wustl.edu 37 11 8483385 8483385 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 8483385 8483385 G A SNP STK33 ENST00000315204 human ensembl 69_37n -1 known silent c.525 p.I175 0.997 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 STK33 HGNC ENSG00000130413 234 0 0.00 88 84 48.84 - - - STRADB 0 genome.wustl.edu 37 2 202344866 202344866 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 202344866 202344866 C G SNP STRADB ENST00000194530 human ensembl 69_37n +1 known missense c.1225 p.P409A 0.959 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 STRADB HGNC ENSG00000082146 88 0 0.00 65 32 32.99 - - - STT3B 0 genome.wustl.edu 37 3 31661216 31661216 + Silent SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 31661216 31661216 A G SNP STT3B ENST00000295770 human ensembl 69_37n +1 known silent c.1221 p.Q407 0.997 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 255 0 0.00 85 87 50.58 - - - STXBP3 0 genome.wustl.edu 37 1 109301146 109301146 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 109301146 109301146 C G SNP STXBP3 ENST00000370008 human ensembl 69_37n +1 known missense c.273 p.F91L 0.999 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP3 HGNC ENSG00000116266 54 0 0.00 21 32 60.38 - - - SYBU 0 genome.wustl.edu 37 8 110655102 110655102 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 110655102 110655102 C G SNP SYBU ENST00000276646 human ensembl 69_37n -1 known missense c.84 p.L28F 1.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 79 0 0.00 10 23 69.70 - - - SYNE2 0 genome.wustl.edu 37 14 64619358 64619358 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 64619358 64619358 G A SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.15716 p.G5239E 0.927 smart_Spectrin/alpha-actinin 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 79 0 0.00 63 49 43.75 - - - SYNPO 0 genome.wustl.edu 37 5 150028481 150028481 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 150028481 150028481 C T SNP SYNPO ENST00000394243 human ensembl 69_37n +1 known missense c.1376 p.A459V 0.000 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 62 0 0.00 38 11 22.45 - - - SYS1 0 genome.wustl.edu 37 20 43992240 43992240 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 43992240 43992240 G C SNP SYS1 ENST00000243918 human ensembl 69_37n +1 known missense c.69 p.Q23H 0.996 pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1 pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1 - no_errors SYS1 HGNC ENSG00000204070 53 0 0.00 19 14 42.42 - - - SYT17 0 genome.wustl.edu 37 16 19195030 19195030 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 19195030 19195030 T C SNP SYT17 ENST00000355377 human ensembl 69_37n +1 known missense c.512 p.V171A 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 SYT17 HGNC ENSG00000103528 45 0 0.00 34 21 38.18 - - - TAF1L 0 genome.wustl.edu 37 9 32632013 32632013 + Missense_Mutation SNP T T A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 32632013 32632013 T A SNP TAF1L ENST00000242310 human ensembl 69_37n -1 known missense c.3565 p.T1189S 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 164 0 0.00 125 49 28.16 - - - TAS2R1 0 genome.wustl.edu 37 5 9629676 9629676 + Missense_Mutation SNP T T A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 9629676 9629676 T A SNP TAS2R1 ENST00000382492 human ensembl 69_37n -1 known missense c.469 p.R157W 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R1 HGNC ENSG00000169777 51 0 0.00 35 15 30.00 - - - TBC1D8B 0 genome.wustl.edu 37 X 106065207 106065207 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 106065207 106065207 G A SNP TBC1D8B ENST00000357242 human ensembl 69_37n +1 known missense c.361 p.G121R 1.000 NULL 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 TBC1D8B HGNC ENSG00000133138 48 0 0.00 36 27 42.86 - - - TBR1 0 genome.wustl.edu 37 2 162273201 162273201 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 162273201 162273201 C T SNP TBR1 ENST00000389554 human ensembl 69_37n +1 known missense c.280 p.R94C 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 TBR1 HGNC ENSG00000136535 33 0 0.00 23 8 25.81 - - - TBR1 0 genome.wustl.edu 37 2 162274263 162274263 + Missense_Mutation SNP A A T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 162274263 162274263 A T SNP TBR1 ENST00000389554 human ensembl 69_37n +1 known missense c.769 p.I257F 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 162 0 0.00 150 59 28.10 - - - TCERG1 0 genome.wustl.edu 37 5 145886756 145886756 + Missense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 145886756 145886756 G T SNP TCERG1 ENST00000296702 human ensembl 69_37n +1 known missense c.2896 p.D966Y 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain 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 62 0 0.00 52 23 30.67 - - - TCHH 0 genome.wustl.edu 37 1 152083851 152083853 + In_Frame_Del DEL CTC CTC - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 152083851 152083853 CTC - DEL TCHH ENST00000368804 human ensembl 69_37n -1 known in_frame_del c.1842_1840 p.E614in_frame_del 0.000:0.000:0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 70 0 0.00 66 19 22.35 - - - TEC 0 genome.wustl.edu 37 4 48152946 48152946 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 48152946 48152946 C T SNP TEC ENST00000381501 human ensembl 69_37n -1 known missense c.806 p.G269D 1.000 pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,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_SH3_domain,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom - no_errors TEC HGNC ENSG00000135605 80 0 0.00 29 58 66.67 - - - TESPA1 0 genome.wustl.edu 37 12 55356217 55356217 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 55356217 55356217 C T SNP TESPA1 ENST00000316577 human ensembl 69_37n -1 known missense c.1465 p.E489K 0.968 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 140 0 0.00 65 37 36.27 - - - TEX30 0 genome.wustl.edu 37 13 103421738 103421738 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 13 103421738 103421738 G A SNP TEX30 ENST00000376032 human ensembl 69_37n -1 known missense c.169 p.H57Y 1.000 NULL pfam_Dienelactn_hydro - no_errors TEX30 HGNC ENSG00000151287 44 0 0.00 27 18 40.00 - - - TFEB 0 genome.wustl.edu 37 6 41652769 41652769 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 41652769 41652769 C T SNP TFEB ENST00000230323 human ensembl 69_37n -1 known silent c.999 p.P333 0.152 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 TFEB HGNC ENSG00000112561 40 0 0.00 7 10 55.56 - - - TGM7 0 genome.wustl.edu 37 15 43584976 43584976 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 43584976 43584976 G C SNP TGM7 ENST00000452443 human ensembl 69_37n -1 known missense c.370 p.Q124E 0.001 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 99 0 0.00 29 29 50.00 - - - THADA 0 genome.wustl.edu 37 2 43802047 43802047 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 43802047 43802047 G A SNP THADA ENST00000405006 human ensembl 69_37n -1 known missense c.1157 p.S386L 0.959 NULL pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 109 0 0.00 107 50 31.85 - - - THSD7A 0 genome.wustl.edu 37 7 11464450 11464450 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 11464450 11464450 C T SNP THSD7A ENST00000423059 human ensembl 69_37n -1 known missense c.3256 p.E1086K 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 113 0 0.00 88 43 32.82 - - - THTPA 0 genome.wustl.edu 37 14 24026073 24026073 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 24026073 24026073 G A SNP THTPA ENST00000288014 human ensembl 69_37n +1 known missense c.107 p.R36Q 0.987 pfam_CYTH_domain,superfamily_CYTH-like_domain,pirsf_ThTPase pfam_CYTH_domain,superfamily_CYTH-like_domain,pirsf_ThTPase - no_errors THTPA HGNC ENSG00000259431 99 0 0.00 43 33 43.42 - - - THTPA 0 genome.wustl.edu 37 14 24026219 24026219 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 24026219 24026219 G A SNP THTPA ENST00000288014 human ensembl 69_37n +1 known missense c.253 p.E85K 0.224 pfam_CYTH_domain,superfamily_CYTH-like_domain,pirsf_ThTPase pfam_CYTH_domain,superfamily_CYTH-like_domain,pirsf_ThTPase - no_errors THTPA HGNC ENSG00000259431 141 0 0.00 50 25 33.33 - - - TIAM1 0 genome.wustl.edu 37 21 32639061 32639061 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 21 32639061 32639061 G A SNP TIAM1 ENST00000286827 human ensembl 69_37n -1 known silent c.228 p.F76 0.975 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 40 0 0.00 8 8 50.00 - - - TIMELESS 0 genome.wustl.edu 37 12 56816665 56816665 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 56816665 56816665 C G SNP TIMELESS ENST00000553532 human ensembl 69_37n -1 known missense c.2404 p.E802Q 1.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 57 0 0.00 53 18 25.35 - - - TLN2 0 genome.wustl.edu 37 15 62948251 62948251 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 62948251 62948251 G A SNP TLN2 ENST00000306829 human ensembl 69_37n +1 known missense c.626 p.R209K 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain 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 80 0 0.00 24 25 51.02 - - - TMED4 0 genome.wustl.edu 37 7 44621710 44621710 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 44621710 44621710 G C SNP TMED4 ENST00000457408 human ensembl 69_37n -1 known missense c.96 p.F32L 1.000 pfam_GOLD pfam_GOLD,pfscan_GOLD - no_errors TMED4 HGNC ENSG00000158604 22 0 0.00 7 4 36.36 - - - TMEM132C 0 genome.wustl.edu 37 12 129028546 129028546 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 129028546 129028546 G A SNP TMEM132C ENST00000435159 human ensembl 69_37n +1 known missense c.1019 p.R340H 1.000 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 32 0 0.00 8 5 38.46 - - - TMEM132D 0 genome.wustl.edu 37 12 129559341 129559341 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 129559341 129559341 G C SNP TMEM132D ENST00000422113 human ensembl 69_37n -1 known missense c.2379 p.I793M 0.811 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 115 0 0.00 128 57 30.81 - - - TMEM176B 0 genome.wustl.edu 37 7 150490276 150490276 + Nonsense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 150490276 150490276 G C SNP TMEM176B ENST00000326442 human ensembl 69_37n -1 known nonsense c.500 p.S167* 0.000 pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors TMEM176B HGNC ENSG00000106565 120 0 0.00 92 52 36.11 - - - TMEM19 0 genome.wustl.edu 37 12 72090223 72090223 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 72090223 72090223 C T SNP TMEM19 ENST00000266673 human ensembl 69_37n +1 known silent c.252 p.V84 0.985 pfam_DUF92_TMEM19 pfam_DUF92_TMEM19 - no_errors TMEM19 HGNC ENSG00000139291 148 1 0.67 110 46 29.49 - - - TMEM19 0 genome.wustl.edu 37 12 72091271 72091271 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 72091271 72091271 A G SNP TMEM19 ENST00000550787 human ensembl 69_37n +1 known missense c.40 p.K14E 0.934 pfam_DUF92_TMEM19 pfam_DUF92_TMEM19 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TMEM19 HGNC ENSG00000139291 88 0 0.00 67 44 39.64 - - - TMEM246 0 genome.wustl.edu 37 9 104238342 104238342 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 104238342 104238342 G A SNP TMEM246 ENST00000374847 human ensembl 69_37n -1 known missense c.1033 p.R345C 1.000 NULL NULL - no_errors TMEM246 HGNC ENSG00000165152 82 0 0.00 44 25 36.23 - - - TMEM50B 0 genome.wustl.edu 37 21 34839406 34839406 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 21 34839406 34839406 C G SNP TMEM50B ENST00000420455 human ensembl 69_37n -1 known missense c.123 p.M41I 1.000 pfam_UPF0220 pfam_UPF0220 - no_errors TMEM50B HGNC ENSG00000142188 171 0 0.00 34 56 62.22 - - - TMEM52B 0 genome.wustl.edu 37 12 10342675 10342675 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 10342675 10342675 C A SNP TMEM52B ENST00000381923 human ensembl 69_37n +1 known missense c.488 p.P163H 0.849 NULL NULL - no_errors TMEM52B HGNC ENSG00000165685 59 0 0.00 46 17 26.98 - - - TMTC3 0 genome.wustl.edu 37 12 88566490 88566490 + Silent SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 88566490 88566490 A G SNP TMTC3 ENST00000266712 human ensembl 69_37n +1 known silent c.1167 p.V389 1.000 NULL pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 155 0 0.00 136 62 31.31 - - - TMX3 0 genome.wustl.edu 37 18 66354978 66354978 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 66354978 66354978 G A SNP TMX3 ENST00000299608 human ensembl 69_37n -1 known missense c.662 p.S221L 0.951 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TMX3 HGNC ENSG00000166479 91 0 0.00 23 32 58.18 - - - TNNT3 0 genome.wustl.edu 37 11 1955029 1955030 + In_Frame_Ins INS - - AGG TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 1955029 1955030 - AGG INS TNNT3 ENST00000397301 human ensembl 69_37n +1 known in_frame_ins c.283_284 p.99in_frame_insE 1.000:1.000 pfam_Troponin pfam_Troponin - no_errors TNNT3 HGNC ENSG00000130595 75 0 0.00 20 14 41.18 - - - TOX4 0 genome.wustl.edu 37 14 21961177 21961177 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 14 21961177 21961177 C G SNP TOX4 ENST00000262709 human ensembl 69_37n +1 known missense c.1402 p.P468A 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX4 HGNC ENSG00000092203 39 0 0.00 31 19 38.00 - - - TP63 0 genome.wustl.edu 37 3 189612137 189612137 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 189612137 189612137 C G SNP TP63 ENST00000264731 human ensembl 69_37n +1 known missense c.1889 p.S630C 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 94 0 0.00 35 27 43.55 - - - TRAF3IP3 0 genome.wustl.edu 37 1 209935932 209935932 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 209935932 209935932 G C SNP TRAF3IP3 ENST00000367024 human ensembl 69_37n +1 known missense c.418 p.D140H 0.001 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 49 0 0.00 62 17 21.52 - - - TRAK2 0 genome.wustl.edu 37 2 202245494 202245494 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 202245494 202245494 C G SNP TRAK2 ENST00000332624 human ensembl 69_37n -1 known missense c.2517 p.K839N 1.000 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 66 0 0.00 51 33 39.29 - - - TRBV20-1 0 genome.wustl.edu 37 7 142334807 142334807 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 142334807 142334807 G A SNP TRBV20-1 ENST00000390394 human ensembl 69_37n +1 known missense c.229 p.E77K 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:bad_bp_length_for_coding_region TRBV20-1 HGNC ENSG00000211747 76 0 0.00 72 31 30.10 - - - TRIM14 0 genome.wustl.edu 37 9 100862276 100862276 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 100862276 100862276 C T SNP TRIM14 ENST00000341469 human ensembl 69_37n -1 known missense c.474 p.M158I 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM14 HGNC ENSG00000106785 128 0 0.00 82 36 30.51 - - - TRIM2 0 genome.wustl.edu 37 4 154191674 154191674 + RNA SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 154191674 154191674 A G SNP TRIM2 ENST00000502281 human ensembl 69_37n +1 putative rna NULL NULL 1.000 - - - no_errors TRIM2 HGNC ENSG00000109654 89 0 0.00 39 27 40.91 - - - TRIM24 0 genome.wustl.edu 37 7 138269670 138269670 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 138269670 138269670 A G SNP TRIM24 ENST00000343526 human ensembl 69_37n +1 known missense c.3127 p.I1043V 0.134 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 20 0 0.00 27 15 35.71 - - - TRIM3 0 genome.wustl.edu 37 11 6477399 6477399 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 6477399 6477399 C T SNP TRIM3 ENST00000345851 human ensembl 69_37n -1 known missense c.1436 p.R479H 0.992 pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 97 0 0.00 69 9 11.54 - - - TRMT11 0 genome.wustl.edu 37 6 126319391 126319391 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 126319391 126319391 C T SNP TRMT11 ENST00000334379 human ensembl 69_37n +1 known missense c.317 p.S106F 1.000 pirsf_tRNA_mtfrase_TRM11 pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase - no_errors TRMT11 HGNC ENSG00000066651 93 0 0.00 36 71 66.36 - - - TRMT6 0 genome.wustl.edu 37 20 5923223 5923223 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 5923223 5923223 C G SNP TRMT6 ENST00000203001 human ensembl 69_37n -1 known missense c.877 p.E293Q 1.000 pirsf_tRNA_m1A_mtfrase pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase - no_errors TRMT6 HGNC ENSG00000089195 221 0 0.00 224 119 34.69 - - - TRPM6 0 genome.wustl.edu 37 9 77377431 77377431 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 77377431 77377431 G A SNP TRPM6 ENST00000451710 human ensembl 69_37n -1 known missense c.4156 p.H1386Y 0.001 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 70 0 0.00 27 25 48.08 - - - TSEN54 0 genome.wustl.edu 37 17 73517571 73517571 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 73517571 73517571 G C SNP TSEN54 ENST00000333213 human ensembl 69_37n +1 known missense c.603 p.K201N 1.000 NULL NULL - no_errors TSEN54 HGNC ENSG00000182173 97 0 0.00 21 18 46.15 - - - TSPAN11 0 genome.wustl.edu 37 12 31135536 31135536 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 31135536 31135536 G A SNP TSPAN11 ENST00000261177 human ensembl 69_37n +1 known missense c.526 p.E176K 0.980 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN11 HGNC ENSG00000110900 37 0 0.00 12 7 36.84 - - - TSPAN5 0 genome.wustl.edu 37 4 99403180 99403181 + Frame_Shift_Ins INS - - T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 4 99403180 99403181 - T INS TSPAN5 ENST00000305798 human ensembl 69_37n -1 known frame_shift_ins c.426_425 p.N142fs 1.000:1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN5 HGNC ENSG00000168785 168 0 0.00 103 38 26.95 - - - TTBK2 0 genome.wustl.edu 37 15 43102874 43102874 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 43102874 43102874 C T SNP TTBK2 ENST00000267890 human ensembl 69_37n -1 known missense c.760 p.E254K 1.000 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 95 0 0.00 34 39 53.42 - - - TTC21A 0 genome.wustl.edu 37 3 39162578 39162578 + Nonsense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 39162578 39162578 G T SNP TTC21A ENST00000301819 human ensembl 69_37n +1 known nonsense c.1015 p.E339* 1.000 smart_TPR_repeat,pfscan_TPR_repeat pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 163 0 0.00 68 49 41.88 - - - TTC28 0 genome.wustl.edu 37 22 28693820 28693820 + Nonsense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 22 28693820 28693820 G A SNP TTC28 ENST00000397906 human ensembl 69_37n -1 novel nonsense c.550 p.Q184* 1.000 pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 69 0 0.00 24 24 50.00 - - - TTC39B 0 genome.wustl.edu 37 9 15175073 15175073 + Silent SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 15175073 15175073 A G SNP TTC39B ENST00000512701 human ensembl 69_37n -1 known silent c.1902 p.S634 1.000 smart_TPR_repeat pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 82 0 0.00 78 43 35.54 - - - TTLL3 0 genome.wustl.edu 37 3 9870740 9870740 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 9870740 9870740 G C SNP TTLL3 ENST00000426895 human ensembl 69_37n +1 known missense c.1644 p.Q548H 0.998 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL3 HGNC ENSG00000214021 59 0 0.00 37 16 30.19 - - - TTN 0 genome.wustl.edu 37 2 179396976 179396976 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 179396976 179396976 T C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.96662 p.E32221G 1.000 superfamily_Calpain_domain_III,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 256 0 0.00 209 71 25.36 - - - TTN 0 genome.wustl.edu 37 2 179428340 179428340 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 179428340 179428340 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.74815 p.E24939Q 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 35 0 0.00 43 19 30.65 - - - TTN 0 genome.wustl.edu 37 2 179435966 179435966 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 179435966 179435966 G C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.67189 p.Q22397E 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 68 0 0.00 74 25 25.25 - - - TTN 0 genome.wustl.edu 37 2 179595841 179595841 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 179595841 179595841 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.13819 p.E4607Q 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 165 0 0.00 111 58 34.32 - - - TTN 0 genome.wustl.edu 37 2 179602965 179602965 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 179602965 179602965 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.10483 p.E3495Q 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 97 0 0.00 67 41 37.96 - - - TTN 0 genome.wustl.edu 37 2 179643760 179643760 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 179643760 179643760 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.4049 p.R1350H 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 111 0 0.00 72 40 35.71 - - - TTN 0 genome.wustl.edu 37 2 179656925 179656925 + Splice_Site SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 179656925 179656925 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known splice_site c.1537-1 e9-1 1.000 - - - no_errors TTN HGNC ENSG00000155657 116 0 0.00 92 42 31.34 - - - TUBB4A 0 genome.wustl.edu 37 19 6495394 6495394 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 6495394 6495394 C T SNP TUBB4A ENST00000264071 human ensembl 69_37n -1 known silent c.1116 p.T372 0.986 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_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_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 72 0 0.00 49 25 33.78 - - - TUBGCP2 0 genome.wustl.edu 37 10 135096600 135096600 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 135096600 135096600 C T SNP TUBGCP2 ENST00000543663 human ensembl 69_37n -1 known missense c.2355 p.M785I 1.000 NULL pfam_Spc97_Spc98,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 103 0 0.00 28 24 46.15 - - - TWIST1 0 genome.wustl.edu 37 7 19156620 19156620 + Nonsense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 19156620 19156620 G A SNP TWIST1 ENST00000242261 human ensembl 69_37n -1 known nonsense c.325 p.Q109* 1.000 pfam_HLH_DNA-bd,superfamily_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 TWIST1 HGNC ENSG00000122691 32 0 0.00 26 8 23.53 - - - TXNDC11 0 genome.wustl.edu 37 16 11792007 11792007 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 11792007 11792007 C T SNP TXNDC11 ENST00000356957 human ensembl 69_37n -1 known missense c.1162 p.A388T 0.998 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 81 0 0.00 78 22 22.00 - - - TXNDC5 0 genome.wustl.edu 37 6 7883486 7883486 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 7883486 7883486 G A SNP TXNDC5 ENST00000379757 human ensembl 69_37n -1 known missense c.1190 p.P397L 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors TXNDC5 HGNC ENSG00000239264 66 0 0.00 58 21 26.58 - - - TXNRD1 0 genome.wustl.edu 37 12 104682791 104682791 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 104682791 104682791 G C SNP TXNRD1 ENST00000429002 human ensembl 69_37n +1 known missense c.387 p.K129N 0.054 superfamily_Thioredoxin-like_fold pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 69 0 0.00 46 8 14.81 - - - TYMP 0 genome.wustl.edu 37 22 50966117 50966117 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 22 50966117 50966117 G A SNP TYMP ENST00000252029 human ensembl 69_37n -1 known silent c.546 p.C182 1.000 pfam_Glycosyl_Trfase_fam3,superfamily_Glycosyl_Trfase_fam3,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk - no_errors TYMP HGNC ENSG00000025708 68 0 0.00 31 19 38.00 - - - UBA2 0 genome.wustl.edu 37 19 34941194 34941194 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 34941194 34941194 C A SNP UBA2 ENST00000246548 human ensembl 69_37n +1 known missense c.796 p.L266M 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 104 0 0.00 107 51 32.28 - - - UBE2T 0 genome.wustl.edu 37 1 202301082 202301082 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 202301082 202301082 C T SNP UBE2T ENST00000367274 human ensembl 69_37n -1 known missense c.475 p.E159K 0.030 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2T HGNC ENSG00000077152 150 0 0.00 179 60 25.10 - - - UBTF 0 genome.wustl.edu 37 17 42284729 42284729 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 42284729 42284729 C G SNP UBTF ENST00000302904 human ensembl 69_37n -1 known missense c.2176 p.E726Q 0.999 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors UBTF HGNC ENSG00000108312 130 1 0.76 57 59 50.86 - - - UHRF1BP1L 0 genome.wustl.edu 37 12 100451840 100451840 + Frame_Shift_Del DEL G G - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 100451840 100451840 G - DEL UHRF1BP1L ENST00000279907 human ensembl 69_37n -1 known frame_shift_del c.3215 p.P1072fs 0.844 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 32 0 0.00 40 13 24.53 - - - ULK4 0 genome.wustl.edu 37 3 41795894 41795894 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 41795894 41795894 C G SNP ULK4 ENST00000301831 human ensembl 69_37n -1 known missense c.2280 p.L760F 0.706 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ULK4 HGNC ENSG00000168038 98 0 0.00 43 38 46.91 - - - UMODL1 0 genome.wustl.edu 37 21 43524173 43524173 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 21 43524173 43524173 G A SNP UMODL1 ENST00000408989 human ensembl 69_37n +1 known missense c.1495 p.D499N 0.815 NULL pfam_Zona_pellucida_Endoglin/CD105,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors UMODL1 HGNC ENSG00000177398 53 0 0.00 14 22 61.11 - - - UNC13B 0 genome.wustl.edu 37 9 35237784 35237784 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 35237784 35237784 C T SNP UNC13B ENST00000396787 human ensembl 69_37n +1 known missense c.355 p.H119Y 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 105 0 0.00 72 40 35.71 - - - UNCX 0 genome.wustl.edu 37 7 1275500 1275500 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 1275500 1275500 G A SNP UNCX ENST00000316333 human ensembl 69_37n +1 known silent c.483 p.R161 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors UNCX HGNC ENSG00000164853 20 0 0.00 21 7 25.00 - - - UNK 0 genome.wustl.edu 37 17 73818686 73818686 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 17 73818686 73818686 G A SNP UNK ENST00000293218 human ensembl 69_37n +1 known missense c.2194 p.E732K 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 65 0 0.00 10 11 52.38 - - - UPF2 0 genome.wustl.edu 37 10 12071427 12071427 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 10 12071427 12071427 G A SNP UPF2 ENST00000356352 human ensembl 69_37n -1 known silent c.462 p.S154 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 16 0 0.00 10 5 33.33 - - - UPK3A 0 genome.wustl.edu 37 22 45689105 45689105 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 22 45689105 45689105 C T SNP UPK3A ENST00000216211 human ensembl 69_37n +1 known silent c.615 p.S205 0.984 NULL NULL - no_errors UPK3A HGNC ENSG00000100373 102 0 0.00 38 27 41.54 - - - URB2 0 genome.wustl.edu 37 1 229773599 229773599 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 229773599 229773599 C A SNP URB2 ENST00000258243 human ensembl 69_37n +1 known missense c.3239 p.A1080D 0.001 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 38 0 0.00 18 10 35.71 - - - USH2A 0 genome.wustl.edu 37 1 216370014 216370014 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 216370014 216370014 G C SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.4132 p.L1378V 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 141 0 0.00 171 61 26.29 - - - USP45 0 genome.wustl.edu 37 6 99956518 99956518 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 99956518 99956518 C G SNP USP45 ENST00000327681 human ensembl 69_37n -1 known missense c.241 p.D81H 1.000 pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP pfam_Peptidase_C19,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP45 HGNC ENSG00000123552 127 0 0.00 38 86 69.35 - - - UTP15 0 genome.wustl.edu 37 5 72865429 72865429 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 72865429 72865429 C T SNP UTP15 ENST00000296792 human ensembl 69_37n +1 known missense c.476 p.T159I 0.206 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_U3_snoRNA-assocProt_15_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors UTP15 HGNC ENSG00000164338 141 0 0.00 122 48 28.24 - - - VASH2 0 genome.wustl.edu 37 1 213146162 213146162 + Silent SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 213146162 213146162 C G SNP VASH2 ENST00000517399 human ensembl 69_37n +1 known silent c.738 p.V246 1.000 NULL NULL - no_errors VASH2 HGNC ENSG00000143494 97 0 0.00 88 83 48.54 - - - VCPIP1 0 genome.wustl.edu 37 8 67578719 67578719 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 8 67578719 67578719 C G SNP VCPIP1 ENST00000310421 human ensembl 69_37n -1 known missense c.475 p.D159H 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 46 0 0.00 16 25 60.98 - - - VPS13A 0 genome.wustl.edu 37 9 79836219 79836219 + Frame_Shift_Del DEL A A - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 79836219 79836219 A - DEL VPS13A ENST00000360280 human ensembl 69_37n +1 known frame_shift_del c.1108 p.K372fs 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 143 0 0.00 126 52 29.05 - - - VPS13A 0 genome.wustl.edu 37 9 79898501 79898501 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 79898501 79898501 G C SNP VPS13A ENST00000360280 human ensembl 69_37n +1 known missense c.3274 p.E1092Q 0.993 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 65 0 0.00 58 35 37.63 - - - VPS45 0 genome.wustl.edu 37 1 150054064 150054064 + Silent SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 150054064 150054064 A G SNP VPS45 ENST00000369130 human ensembl 69_37n +1 known silent c.921 p.S307 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS45 HGNC ENSG00000136631 81 0 0.00 68 43 38.74 - - - VPS54 0 genome.wustl.edu 37 2 64160970 64160970 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 64160970 64160970 C T SNP VPS54 ENST00000272322 human ensembl 69_37n -1 known missense c.1576 p.E526K 1.000 NULL pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC ENSG00000143952 134 0 0.00 102 49 32.45 - - - VSIG10 0 genome.wustl.edu 37 12 118517245 118517245 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 12 118517245 118517245 C T SNP VSIG10 ENST00000359236 human ensembl 69_37n -1 known silent c.831 p.L277 0.990 pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG10 HGNC ENSG00000176834 155 0 0.00 91 38 29.46 - - - WDR60 0 genome.wustl.edu 37 7 158715127 158715127 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 158715127 158715127 C A SNP WDR60 ENST00000407559 human ensembl 69_37n +1 known missense c.1981 p.H661N 0.997 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 132 0 0.00 107 49 31.41 - - - WDR64 0 genome.wustl.edu 37 1 241959640 241959642 + In_Frame_Del DEL AAG AAG - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 241959640 241959642 AAG - DEL WDR64 ENST00000366552 human ensembl 69_37n +1 known in_frame_del c.3130_3132 p.K1046in_frame_del 0.882:0.909:0.922 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 76 0 0.00 123 31 20.13 - - - WDR87 0 genome.wustl.edu 37 19 38377679 38377679 + Nonsense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 38377679 38377679 G C SNP WDR87 ENST00000447313 human ensembl 69_37n -1 known nonsense c.6632 p.S2211* 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 197 0 0.00 167 87 33.98 - - - WNT8A 0 genome.wustl.edu 37 5 137426381 137426381 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 137426381 137426381 G A SNP WNT8A ENST00000361560 human ensembl 69_37n +1 known silent c.675 p.L225 0.055 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8A HGNC ENSG00000061492 45 0 0.00 24 6 20.00 - - - WWC1 0 genome.wustl.edu 37 5 167851016 167851016 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 167851016 167851016 G A SNP WWC1 ENST00000265293 human ensembl 69_37n +1 known missense c.1753 p.A585T 0.000 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC1 HGNC ENSG00000113645 30 0 0.00 26 6 18.75 - - - WWP2 0 genome.wustl.edu 37 16 69874100 69874100 + Missense_Mutation SNP A A T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 69874100 69874100 A T SNP WWP2 ENST00000356003 human ensembl 69_37n +1 known missense c.412 p.T138S 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors WWP2 HGNC ENSG00000198373 62 0 0.00 13 25 64.10 - - - XPC 0 genome.wustl.edu 37 3 14208754 14208754 + Splice_Site SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 14208754 14208754 C T SNP XPC ENST00000285021 human ensembl 69_37n -1 known splice_site c.537-1 e5-1 1.000 - - - no_errors XPC HGNC ENSG00000154767 115 0 0.00 68 17 20.00 - - - XPO4 0 genome.wustl.edu 37 13 21395842 21395842 + Splice_Site SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 13 21395842 21395842 C A SNP XPO4 ENST00000255305 human ensembl 69_37n -1 known splice_site c.1173+1 e9+1 1.000 - - - no_errors XPO4 HGNC ENSG00000132953 117 0 0.00 60 52 46.43 - - - YAP1 0 genome.wustl.edu 37 11 102076658 102076658 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 11 102076658 102076658 G A SNP YAP1 ENST00000282441 human ensembl 69_37n +1 known silent c.837 p.V279 0.995 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors YAP1 HGNC ENSG00000137693 30 0 0.00 10 14 58.33 - - - YEATS2 0 genome.wustl.edu 37 3 183525829 183525829 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 183525829 183525829 C T SNP YEATS2 ENST00000305135 human ensembl 69_37n +1 known silent c.4023 p.T1341 0.891 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 69 0 0.00 23 28 54.90 - - - YPEL5 0 genome.wustl.edu 37 2 30379522 30379522 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 30379522 30379522 G A SNP YPEL5 ENST00000261353 human ensembl 69_37n +1 known missense c.5 p.G2D 1.000 pfam_Yippee pfam_Yippee - no_errors YPEL5 HGNC ENSG00000119801 98 0 0.00 86 29 25.22 - - - YTHDC2 0 genome.wustl.edu 37 5 112889355 112889355 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 5 112889355 112889355 G A SNP YTHDC2 ENST00000161863 human ensembl 69_37n +1 known missense c.1936 p.D646N 1.000 smart_Helicase_C,pfscan_Helicase_C 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 135 0 0.00 149 57 27.67 - - - ZAN 0 genome.wustl.edu 37 7 100336212 100336212 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 100336212 100336212 G C SNP ZAN ENST00000546292 human ensembl 69_37n +1 known missense c.742 p.D248H 0.001 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 43 0 0.00 17 15 46.88 - - - ZAP70 0 genome.wustl.edu 37 2 98351824 98351824 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 98351824 98351824 C T SNP ZAP70 ENST00000264972 human ensembl 69_37n +1 known silent c.1194 p.I398 0.997 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,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 61 0 0.00 32 10 23.81 - - - ZBTB7C 0 genome.wustl.edu 37 18 45567085 45567085 + Frame_Shift_Del DEL C C - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 18 45567085 45567085 C - DEL ZBTB7C ENST00000332053 human ensembl 69_37n -1 known frame_shift_del c.394 p.D132fs 0.050 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 ZBTB7C HGNC ENSG00000184828 189 0 0.00 80 52 37.68 - - - ZC3H7A 0 genome.wustl.edu 37 16 11868840 11868840 + Silent SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 11868840 11868840 C T SNP ZC3H7A ENST00000355758 human ensembl 69_37n -1 known silent c.615 p.E205 0.976 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 61 0 0.00 54 18 24.66 - - - ZC3HC1 0 genome.wustl.edu 37 7 129680797 129680797 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 129680797 129680797 C G SNP ZC3HC1 ENST00000358303 human ensembl 69_37n -1 known missense c.403 p.D135H 1.000 pfam_Znf_C3HC-like pfam_Znf_C3HC-like,pfam_NIPA/Rsm1 - no_errors ZC3HC1 HGNC ENSG00000091732 78 0 0.00 67 42 38.53 - - - ZDHHC7 0 genome.wustl.edu 37 16 85010039 85010039 + Frame_Shift_Del DEL G G - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 85010039 85010039 G - DEL ZDHHC7 ENST00000344861 human ensembl 69_37n -1 known frame_shift_del c.948 p.S317fs 0.902 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ENSG00000153786 69 0 0.00 17 14 43.75 - - - ZFP28 0 genome.wustl.edu 37 19 57065152 57065152 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 57065152 57065152 C G SNP ZFP28 ENST00000301318 human ensembl 69_37n +1 known missense c.998 p.S333C 0.006 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 ZFP28 HGNC ENSG00000196867 74 0 0.00 52 6 10.34 - - - ZFP36L2 0 genome.wustl.edu 37 2 43452623 43452623 + Frame_Shift_Del DEL C C - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 43452623 43452623 C - DEL ZFP36L2 ENST00000282388 human ensembl 69_37n -1 known frame_shift_del c.320 p.G107fs 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 34 0 0.00 11 6 35.29 - - - ZKSCAN2 0 genome.wustl.edu 37 16 25258142 25258142 + Missense_Mutation SNP T T C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 25258142 25258142 T C SNP ZKSCAN2 ENST00000328086 human ensembl 69_37n -1 known missense c.1375 p.S459G 0.150 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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 ZKSCAN2 HGNC ENSG00000155592 137 0 0.00 79 73 48.03 - - - ZMYM1 0 genome.wustl.edu 37 1 35578941 35578941 + Frame_Shift_Del DEL A A - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 35578941 35578941 A - DEL ZMYM1 ENST00000359858 human ensembl 69_37n +1 known frame_shift_del c.1510 p.T506fs 0.996 NULL pfam_Znf_MYM,pfam_HATC,superfamily_RNaseH-like_dom,smart_TRASH - no_errors ZMYM1 HGNC ENSG00000197056 35 0 0.00 18 9 32.14 - - - ZNF12 0 genome.wustl.edu 37 7 6730725 6730725 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 6730725 6730725 C G SNP ZNF12 ENST00000405858 human ensembl 69_37n -1 known missense c.1848 p.Q616H 0.575 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 ZNF12 HGNC ENSG00000164631 114 0 0.00 134 75 35.89 - - - ZNF135 0 genome.wustl.edu 37 19 58579047 58579047 + Nonsense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 58579047 58579047 C T SNP ZNF135 ENST00000401053 human ensembl 69_37n +1 known nonsense c.1267 p.Q423* 0.019 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 ZNF135 HGNC ENSG00000176293 74 0 0.00 96 70 42.17 - - - ZNF165 0 genome.wustl.edu 37 6 28056587 28056587 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 28056587 28056587 G A SNP ZNF165 ENST00000377325 human ensembl 69_37n +1 known missense c.797 p.R266K 0.775 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 ZNF165 HGNC ENSG00000197279 49 0 0.00 20 30 60.00 - - - ZNF212 0 genome.wustl.edu 37 7 148947404 148947404 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 148947404 148947404 C T SNP ZNF212 ENST00000335870 human ensembl 69_37n +1 known missense c.179 p.A60V 1.000 pfam_DUF3669_Znf 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 ZNF212 HGNC ENSG00000170260 68 0 0.00 56 11 16.42 - - - ZNF275 0 genome.wustl.edu 37 X 152612505 152612505 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 X 152612505 152612505 G C SNP ZNF275 ENST00000440091 human ensembl 69_37n +1 known missense c.452 p.R151T 0.006 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 89 0 0.00 19 38 66.67 - - - ZNF318 0 genome.wustl.edu 37 6 43306449 43306449 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 43306449 43306449 C G SNP ZNF318 ENST00000361428 human ensembl 69_37n -1 known missense c.5287 p.E1763Q 0.949 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 127 1 0.78 48 117 70.91 - - - ZNF382 0 genome.wustl.edu 37 19 37118075 37118075 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 37118075 37118075 C T SNP ZNF382 ENST00000292928 human ensembl 69_37n +1 known missense c.1276 p.H426Y 0.999 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 ZNF382 HGNC ENSG00000161298 49 0 0.00 85 25 22.73 - - - ZNF423 0 genome.wustl.edu 37 16 49660157 49660157 + Silent SNP T T A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 16 49660157 49660157 T A SNP ZNF423 ENST00000262383 human ensembl 69_37n -1 known silent c.3501 p.T1167 0.889 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 250 0 0.00 82 94 53.41 - - - ZNF445 0 genome.wustl.edu 37 3 44489770 44489770 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 44489770 44489770 C G SNP ZNF445 ENST00000396077 human ensembl 69_37n -1 known missense c.1393 p.D465H 0.025 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 ZNF445 HGNC ENSG00000185219 141 0 0.00 62 53 46.09 - - - ZNF568 0 genome.wustl.edu 37 19 37488357 37488357 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 37488357 37488357 G A SNP ZNF568 ENST00000455427 human ensembl 69_37n +1 known silent c.1572 p.E524 0.986 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 ZNF568 HGNC ENSG00000198453 9 0 0.00 19 20 51.28 - - - ZNF592 0 genome.wustl.edu 37 15 85341183 85341183 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 85341183 85341183 A G SNP ZNF592 ENST00000299927 human ensembl 69_37n +1 known missense c.2483 p.K828R 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 51 0 0.00 15 16 51.61 - - - ZNF616 0 genome.wustl.edu 37 19 52618995 52618995 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 52618995 52618995 G A SNP ZNF616 ENST00000330123 human ensembl 69_37n -1 known silent c.1422 p.F474 0.004 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 ZNF616 HGNC ENSG00000204611 121 0 0.00 172 50 22.52 - - - ZNF648 0 genome.wustl.edu 37 1 182026740 182026740 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 1 182026740 182026740 C T SNP ZNF648 ENST00000339948 human ensembl 69_37n -1 known missense c.406 p.G136S 0.017 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 64 0 0.00 62 14 18.42 - - - ZNF654 0 genome.wustl.edu 37 3 88189622 88189625 + Frame_Shift_Del DEL ACAG ACAG - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 ACAG ACAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 3 88189622 88189625 ACAG - DEL ZNF654 ENST00000309495 human ensembl 69_37n +1 known frame_shift_del c.1162_1165 p.D389fs 1.000:1.000:1.000:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF654 HGNC ENSG00000175105 26 0 0.00 9 5 35.71 - - - ZNF658 0 genome.wustl.edu 37 9 40773227 40773227 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 40773227 40773227 C T SNP ZNF658 ENST00000377626 human ensembl 69_37n -1 known missense c.2048 p.R683K 0.587 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 ZNF658 HGNC ENSG00000196409 81 0 0.00 120 63 34.43 - - - ZNF658 0 genome.wustl.edu 37 9 40773922 40773922 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 9 40773922 40773922 C G SNP ZNF658 ENST00000377626 human ensembl 69_37n -1 known missense c.1353 p.Q451H 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 ZNF658 HGNC ENSG00000196409 40 0 0.00 43 25 36.76 - - - ZNF76 0 genome.wustl.edu 37 6 35262361 35262361 + Missense_Mutation SNP G G C TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 6 35262361 35262361 G C SNP ZNF76 ENST00000498555 human ensembl 69_37n +1 putative missense c.221 p.W74S 0.001 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF76 HGNC ENSG00000065029 86 0 0.00 19 49 72.06 - - - ZNF765 0 genome.wustl.edu 37 19 53912082 53912082 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 53912082 53912082 C G SNP ZNF765 ENST00000396408 human ensembl 69_37n +1 known missense c.1274 p.T425S 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 ZNF765 HGNC ENSG00000196417 66 0 0.00 126 66 34.38 - - - ZNF770 0 genome.wustl.edu 37 15 35274694 35274694 + Silent SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 15 35274694 35274694 A G SNP ZNF770 ENST00000356321 human ensembl 69_37n -1 known silent c.942 p.C314 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 41 0 0.00 28 14 33.33 - - - ZNF780A 0 genome.wustl.edu 37 19 40581230 40581230 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 40581230 40581230 G A SNP ZNF780A ENST00000455521 human ensembl 69_37n -1 known silent c.1122 p.L374 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 ZNF780A HGNC ENSG00000197782 116 0 0.00 135 68 33.50 - - - ZNF799 0 genome.wustl.edu 37 19 12502762 12502762 + Silent SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 12502762 12502762 G A SNP ZNF799 ENST00000430385 human ensembl 69_37n -1 known silent c.450 p.F150 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF799 HGNC ENSG00000196466 277 0 0.00 301 107 26.23 - - - ZNF804B 0 genome.wustl.edu 37 7 88956723 88956724 + Frame_Shift_Ins INS - - A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 7 88956723 88956724 - A INS ZNF804B ENST00000333190 human ensembl 69_37n +1 known frame_shift_ins c.315_316 p.Q107fs 0.992:1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 83 0 0.00 87 32 26.89 - - - ZNF829 0 genome.wustl.edu 37 19 37382414 37382414 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 37382414 37382414 C T SNP ZNF829 ENST00000520965 human ensembl 69_37n -1 known missense c.1522 p.E508K 0.948 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 ZNF829 HGNC ENSG00000185869 51 0 0.00 56 49 46.67 - - - ZNF845 0 genome.wustl.edu 37 19 53856140 53856140 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 53856140 53856140 C G SNP ZNF845 ENST00000458035 human ensembl 69_37n +1 known missense c.2212 p.L738V 0.266 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 ZNF845 HGNC ENSG00000213799 88 0 0.00 179 90 33.46 - - - ZNF845 0 genome.wustl.edu 37 19 53856158 53856158 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 53856158 53856158 G A SNP ZNF845 ENST00000458035 human ensembl 69_37n +1 known missense c.2230 p.E744K 0.816 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 ZNF845 HGNC ENSG00000213799 95 0 0.00 166 99 37.36 - - - ZNFX1 0 genome.wustl.edu 37 20 47887732 47887732 + Missense_Mutation SNP T T G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 20 47887732 47887732 T G SNP ZNFX1 ENST00000371752 human ensembl 69_37n -1 known missense c.617 p.H206P 0.993 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 77 0 0.00 70 34 32.69 - - - ZRANB3 0 genome.wustl.edu 37 2 135957918 135957918 + Missense_Mutation SNP C C A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 2 135957918 135957918 C A SNP ZRANB3 ENST00000264159 human ensembl 69_37n -1 known missense c.3234 p.K1078N 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 197 0 0.00 169 68 28.69 - - - ZSCAN5A 0 genome.wustl.edu 37 19 56736086 56736086 + Missense_Mutation SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1857f611-3082-45d3-801c-800e685ade07 58ca54bc-8f1a-4ffc-916c-f96b993e3c45 19 56736086 56736086 C G SNP ZSCAN5A ENST00000391713 human ensembl 69_37n -1 known missense c.330 p.Q110H 0.003 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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 ZSCAN5A HGNC ENSG00000131848 42 0 0.00 32 8 20.00 - - -