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 ABCG5 0 genome.wustl.edu 37 2 44040269 44040269 + Missense_Mutation SNP G G C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 2 44040269 44040269 G C SNP ABCG5 ENST00000260645 human ensembl 69_37n -1 known missense c.1942 p.L648V 0.013 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ENSG00000138075 71 0 0.00 54 7 11.48 - - - ADD2 0 genome.wustl.edu 37 2 70905998 70905998 + Silent SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 2 70905998 70905998 G A SNP ADD2 ENST00000264436 human ensembl 69_37n -1 known silent c.1221 p.F407 0.918 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 320 0 0.00 272 33 10.82 - - - AMBRA1 0 genome.wustl.edu 37 11 46564007 46564007 + Silent SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 11 46564007 46564007 C T SNP AMBRA1 ENST00000458649 human ensembl 69_37n -1 known silent c.1560 p.L520 0.936 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 94 0 0.00 103 17 14.17 - - - ANKFY1 0 genome.wustl.edu 37 17 4109717 4109717 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 17 4109717 4109717 C T SNP ANKFY1 ENST00000570535 human ensembl 69_37n -1 known missense c.923 p.R308Q 0.972 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 167 0 0.00 187 30 13.82 - - - ANO3 0 genome.wustl.edu 37 11 26569062 26569062 + Silent SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 11 26569062 26569062 C T SNP ANO3 ENST00000256737 human ensembl 69_37n +1 known silent c.1254 p.F418 0.996 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 822 0 0.00 646 89 12.09 - - - ASIC2 0 genome.wustl.edu 37 17 31439028 31439028 + Silent SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 17 31439028 31439028 G A SNP ASIC2 ENST00000225823 human ensembl 69_37n -1 known silent c.766 p.L256 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 192 0 0.00 170 33 16.26 - - - ASPM 0 genome.wustl.edu 37 1 197069570 197069570 + Missense_Mutation SNP T T C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 1 197069570 197069570 T C SNP ASPM ENST00000367409 human ensembl 69_37n -1 known missense c.8811 p.I2937M 0.997 pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 115 0 0.00 77 13 14.44 - - - BACE1 0 genome.wustl.edu 37 11 117161249 117161249 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 11 117161249 117161249 C T SNP BACE1 ENST00000313005 human ensembl 69_37n -1 known missense c.1219 p.D407N 1.000 pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Peptidase_A1 - no_errors BACE1 HGNC ENSG00000186318 159 0 0.00 178 23 11.44 - - - BCAT1 0 genome.wustl.edu 37 12 25054773 25054773 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 12 25054773 25054773 G A SNP BCAT1 ENST00000261192 human ensembl 69_37n -1 known missense c.53 p.S18L 0.000 NULL pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT1 HGNC ENSG00000060982 90 0 0.00 45 7 13.46 - - - BLM 0 genome.wustl.edu 37 15 91293183 91293183 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 15 91293183 91293183 G A SNP BLM ENST00000355112 human ensembl 69_37n +1 known missense c.685 p.E229K 0.002 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 235 0 0.00 177 26 12.81 - - - BMP2K 0 genome.wustl.edu 37 4 79782550 79782550 + Missense_Mutation SNP C C G TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 4 79782550 79782550 C G SNP BMP2K ENST00000335016 human ensembl 69_37n +1 known missense c.995 p.S332C 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMP2K HGNC ENSG00000138756 141 0 0.00 125 16 11.35 - - - BMP3 0 genome.wustl.edu 37 4 81967616 81967616 + Silent SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 4 81967616 81967616 G A SNP BMP3 ENST00000282701 human ensembl 69_37n +1 known silent c.1041 p.Q347 1.000 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 298 1 0.33 276 33 10.68 - - - CAMTA1 0 genome.wustl.edu 37 1 7725242 7725242 + Missense_Mutation SNP G G C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 1 7725242 7725242 G C SNP CAMTA1 ENST00000303635 human ensembl 69_37n +1 known missense c.2635 p.E879Q 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 10 0 0.00 7 4 36.36 - - - CARD18 0 genome.wustl.edu 37 11 105009659 105009659 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 11 105009659 105009659 C T SNP CARD18 ENST00000530950 human ensembl 69_37n -1 known missense c.154 p.D52N 0.018 pfam_CARD,superfamily_DEATH-like,pfscan_CARD pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD18 HGNC ENSG00000255501 1191 0 0.00 1143 137 10.68 - - - CCDC11 0 genome.wustl.edu 37 18 47787564 47787564 + Nonsense_Mutation SNP C C A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 18 47787564 47787564 C A SNP CCDC11 ENST00000398545 human ensembl 69_37n -1 known nonsense c.343 p.E115* 0.990 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 251 0 0.00 187 26 12.15 - - - CDH1 0 genome.wustl.edu 37 16 68844139 68844139 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 16 68844139 68844139 G A SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known missense c.727 p.E243K 0.999 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 - no_errors CDH1 HGNC ENSG00000039068 257 0 0.00 321 55 14.63 - - - CELA3A 0 genome.wustl.edu 37 1 22332186 22332186 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 1 22332186 22332186 G A SNP CELA3A ENST00000290122 human ensembl 69_37n +1 known missense c.259 p.E87K 0.993 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA3A HGNC ENSG00000142789 77 0 0.00 96 17 15.04 - - - CIR1 0 genome.wustl.edu 37 2 175213464 175213464 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 2 175213464 175213464 C T SNP CIR1 ENST00000342016 human ensembl 69_37n -1 known missense c.1114 p.E372K 0.999 NULL pfam_CIR_N_dom,superfamily_Znf_CCHC - no_errors CIR1 HGNC ENSG00000138433 228 0 0.00 238 29 10.82 - - - CMAS 0 genome.wustl.edu 37 12 22214234 22214234 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 12 22214234 22214234 G A SNP CMAS ENST00000229329 human ensembl 69_37n +1 known missense c.808 p.E270K 1.000 pfam_Cytidylyl_trans pfam_Cytidylyl_trans,superfamily_HAD-like_dom - no_errors CMAS HGNC ENSG00000111726 200 0 0.00 152 19 11.05 - - - COL1A2 0 genome.wustl.edu 37 7 94047827 94047827 + Missense_Mutation SNP G G C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 7 94047827 94047827 G C SNP COL1A2 ENST00000297268 human ensembl 69_37n +1 known missense c.1988 p.R663T 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 248 1 0.40 230 28 10.85 - - - CSPP1 0 genome.wustl.edu 37 8 67976671 67976671 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 8 67976671 67976671 C T SNP CSPP1 ENST00000262210 human ensembl 69_37n +1 known missense c.38 p.S13L 0.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 18 0 0.00 34 9 20.93 - - - CTTNBP2 0 genome.wustl.edu 37 7 117432081 117432081 + Nonsense_Mutation SNP G G C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 7 117432081 117432081 G C SNP CTTNBP2 ENST00000160373 human ensembl 69_37n -1 known nonsense c.1169 p.S390* 0.017 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 464 0 0.00 393 56 12.47 - - - DLGAP3 0 genome.wustl.edu 37 1 35370730 35370731 + Frame_Shift_Ins INS - - C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 1 35370730 35370731 - C INS DLGAP3 ENST00000235180 human ensembl 69_37n -1 known frame_shift_ins c.255_254 p.S86fs 0.928:1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 20 0 0.00 12 3 20.00 - - - ENOX2 0 genome.wustl.edu 37 X 129822967 129822967 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d X 129822967 129822967 C T SNP ENOX2 ENST00000338144 human ensembl 69_37n -1 known missense c.210 p.M70I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX2 HGNC ENSG00000165675 407 0 0.00 229 30 11.58 - - - EP300 0 genome.wustl.edu 37 22 41545099 41545099 + Nonsense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 22 41545099 41545099 C T SNP EP300 ENST00000263253 human ensembl 69_37n +1 known nonsense c.2299 p.Q767* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 316 1 0.32 300 40 11.76 - - - ESYT1 0 genome.wustl.edu 37 12 56522465 56522465 + Missense_Mutation SNP A A G TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 12 56522465 56522465 A G SNP ESYT1 ENST00000267113 human ensembl 69_37n +1 known missense c.362 p.Y121C 0.560 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting - no_errors ESYT1 HGNC ENSG00000139641 60 0 0.00 51 95 65.07 - - - FAM153B 0 genome.wustl.edu 37 5 175517376 175517376 + Missense_Mutation SNP G G C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 5 175517376 175517376 G C SNP FAM153B ENST00000253490 human ensembl 69_37n +1 known missense c.238 p.D80H 0.005 prints_FAM153 prints_FAM153 - no_errors FAM153B HGNC ENSG00000182230 159 0 0.00 171 27 13.64 - - - FBXO43 0 genome.wustl.edu 37 8 101153488 101153488 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 8 101153488 101153488 C T SNP FBXO43 ENST00000428847 human ensembl 69_37n -1 known missense c.994 p.E332K 1.000 NULL pfam_Znf_C6HC,superfamily_F-box_dom_cyclin-like,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 211 0 0.00 171 63 26.92 - - - GP2 0 genome.wustl.edu 37 16 20331055 20331055 + Silent SNP G G C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 16 20331055 20331055 G C SNP GP2 ENST00000381362 human ensembl 69_37n -1 known silent c.903 p.L301 0.474 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors GP2 HGNC ENSG00000169347 451 1 0.22 460 60 11.52 - - - GUCY1A2 0 genome.wustl.edu 37 11 106810633 106810633 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 11 106810633 106810633 C T SNP GUCY1A2 ENST00000282249 human ensembl 69_37n -1 known missense c.759 p.M253I 1.000 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 475 0 0.00 375 45 10.64 - - - HSPG2 0 genome.wustl.edu 37 1 22211641 22211642 + Frame_Shift_Ins INS - - G TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 1 22211641 22211642 - G INS HSPG2 ENST00000374695 human ensembl 69_37n -1 known frame_shift_ins c.1220_1219 p.Q407fs 1.000:0.999 pfam_Ig_I-set,superfamily_LDrepeatLR_classA_rpt,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 9 0 0.00 8 2 20.00 - - - INCENP 0 genome.wustl.edu 37 11 61908274 61908274 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 11 61908274 61908274 C T SNP INCENP ENST00000394818 human ensembl 69_37n +1 known missense c.1442 p.S481L 0.968 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 17 0 0.00 13 6 31.58 - - - ITCH 0 genome.wustl.edu 37 20 33026307 33026307 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 20 33026307 33026307 G A SNP ITCH ENST00000262650 human ensembl 69_37n +1 known missense c.673 p.E225K 0.994 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,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_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors ITCH HGNC ENSG00000078747 488 0 0.00 468 112 19.28 - - - ITPR1 0 genome.wustl.edu 37 3 4726864 4726864 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 3 4726864 4726864 G A SNP ITPR1 ENST00000302640 human ensembl 69_37n +1 known missense c.3631 p.E1211K 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 62 0 0.00 45 5 10.00 - - - KDM5C 0 genome.wustl.edu 37 X 53223539 53223539 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d X 53223539 53223539 C T SNP KDM5C ENST00000375401 human ensembl 69_37n -1 known missense c.3820 p.E1274K 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 53 0 0.00 59 12 16.44 - - - KRT5 0 genome.wustl.edu 37 12 52910585 52910585 + Nonsense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 12 52910585 52910585 G A SNP KRT5 ENST00000548409 human ensembl 69_37n -1 putative nonsense c.397 p.Q133* 1.000 pfam_F,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KRT5 HGNC ENSG00000186081 251 0 0.00 169 24 12.44 - - - LPXN 0 genome.wustl.edu 37 11 58338121 58338121 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 11 58338121 58338121 G A SNP LPXN ENST00000528954 human ensembl 69_37n -1 known missense c.94 p.P32S 0.000 pirsf_Leupaxin pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors LPXN HGNC ENSG00000110031 208 0 0.00 170 22 11.46 - - - LRRIQ1 0 genome.wustl.edu 37 12 85518188 85518188 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 12 85518188 85518188 G A SNP LRRIQ1 ENST00000393217 human ensembl 69_37n +1 known missense c.3898 p.E1300K 0.065 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 734 1 0.14 315 56 15.01 - - - MCF2L2 0 genome.wustl.edu 37 3 182937693 182937693 + Missense_Mutation SNP G G C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 3 182937693 182937693 G C SNP MCF2L2 ENST00000328913 human ensembl 69_37n -1 known missense c.2321 p.S774C 0.989 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 383 0 0.00 253 38 13.01 - - - MCOLN3 0 genome.wustl.edu 37 1 85486834 85486834 + Silent SNP G G C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 1 85486834 85486834 G C SNP MCOLN3 ENST00000302814 human ensembl 69_37n -1 known silent c.1446 p.L482 1.000 pfam_PKD1_2_channel pfam_PKD1_2_channel - no_errors MCOLN3 HGNC ENSG00000055732 126 0 0.00 154 22 12.50 - - - MGAT5 0 genome.wustl.edu 37 2 135012084 135012084 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 2 135012084 135012084 G A SNP MGAT5 ENST00000281923 human ensembl 69_37n +1 known missense c.110 p.R37Q 1.000 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 133 0 0.00 149 22 12.87 - - - MTF2 0 genome.wustl.edu 37 1 93594862 93594862 + Silent SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 1 93594862 93594862 G A SNP MTF2 ENST00000370298 human ensembl 69_37n +1 known silent c.1017 p.K339 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 295 0 0.00 284 34 10.69 - - - MTHFS 0 genome.wustl.edu 37 15 80181521 80181521 + Missense_Mutation SNP G G C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 15 80181521 80181521 G C SNP MTHFS ENST00000258874 human ensembl 69_37n -1 known missense c.293 p.P98R 0.003 pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase - no_errors MTHFS HGNC ENSG00000136371 347 0 0.00 380 59 13.44 - - - MYH9 0 genome.wustl.edu 37 22 36745008 36745008 + Missense_Mutation SNP G G C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 22 36745008 36745008 G C SNP MYH9 ENST00000216181 human ensembl 69_37n -1 known missense c.274 p.L92V 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 92 0 0.00 66 12 15.38 - - - NAPSB 0 genome.wustl.edu 37 19 50837601 50837602 + RNA INS - - C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 19 50837601 50837602 - C INS NAPSB ENST00000527780 human ensembl 69_37n -1 known rna NULL NULL 0.861:0.853 - - - no_errors NAPSB HGNC ENSG00000131401 21 0 0.00 18 2 10.00 - - - NBEA 0 genome.wustl.edu 37 13 36202288 36202288 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 13 36202288 36202288 G A SNP NBEA ENST00000310336 human ensembl 69_37n +1 known missense c.7520 p.R2507Q 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 98 0 0.00 82 13 13.54 - - - NCAM1 0 genome.wustl.edu 37 11 113076824 113076824 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 11 113076824 113076824 G A SNP NCAM1 ENST00000316851 human ensembl 69_37n +1 known missense c.520 p.E174K 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 653 0 0.00 432 52 10.74 - - - NCOA3 0 genome.wustl.edu 37 20 46252812 46252812 + Missense_Mutation SNP C C A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 20 46252812 46252812 C A SNP NCOA3 ENST00000371998 human ensembl 69_37n +1 known missense c.241 p.Q81K 1.000 superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_Nuclear_rcpt_coactivator,pfscan_HLH_DNA-bd pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NCOA3 HGNC ENSG00000124151 146 0 0.00 154 47 23.38 - - - OR8D4 0 genome.wustl.edu 37 11 123777208 123777208 + Nonsense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 11 123777208 123777208 C T SNP OR8D4 ENST00000321355 human ensembl 69_37n +1 known nonsense c.70 p.Q24* 0.992 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 538 1 0.19 399 45 10.14 - - - PABPC1 0 genome.wustl.edu 37 8 101719153 101719153 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 8 101719153 101719153 G A SNP PABPC1 ENST00000318607 human ensembl 69_37n -1 known missense c.1409 p.S470F 1.000 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1 HGNC ENSG00000070756 174 0 0.00 154 48 23.76 - - - PAPPA2 0 genome.wustl.edu 37 1 176671822 176671822 + Missense_Mutation SNP C C G TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 1 176671822 176671822 C G SNP PAPPA2 ENST00000367662 human ensembl 69_37n +1 known missense c.3316 p.L1106V 0.997 superfamily_Fibronectin_type3 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 295 0 0.00 246 30 10.83 - - - PDE4A 0 genome.wustl.edu 37 19 10572600 10572600 + Silent SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 19 10572600 10572600 G A SNP PDE4A ENST00000352831 human ensembl 69_37n +1 known silent c.1668 p.L556 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 160 0 0.00 148 20 11.90 - - - PGK2 0 genome.wustl.edu 37 6 49753829 49753829 + Nonsense_Mutation SNP C C A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 6 49753829 49753829 C A SNP PGK2 ENST00000304801 human ensembl 69_37n -1 known nonsense c.1072 p.E358* 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK2 HGNC ENSG00000170950 714 0 0.00 668 92 12.09 - - - PIK3CA 0 genome.wustl.edu 37 3 178938934 178938934 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 3 178938934 178938934 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.2176 p.E726K 1.000 superfamily_Kinase-like_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 128 0 0.00 110 17 13.39 - - - PIK3CB 0 genome.wustl.edu 37 3 138474685 138474685 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 3 138474685 138474685 C T SNP PIK3CB ENST00000289153 human ensembl 69_37n -1 known missense c.308 p.R103K 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_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 373 0 0.00 518 66 11.26 - - - PIK3R2 0 genome.wustl.edu 37 19 18274193 18274193 + Frame_Shift_Del DEL T T - TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 19 18274193 18274193 T - DEL PIK3R2 ENST00000222254 human ensembl 69_37n +1 known frame_shift_del c.1411 p.S471fs 1.000 NULL pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 29 0 0.00 12 6 33.33 - - - PIN1P1 0 genome.wustl.edu 37 1 70385341 70385341 + RNA SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 1 70385341 70385341 G A SNP PIN1P1 ENST00000412108 human ensembl 69_37n +1 known rna NULL NULL 0.990 - - - no_errors PIN1P1 HGNC ENSG00000229359 41 0 0.00 31 4 11.43 - - - PLCG2 0 genome.wustl.edu 37 16 81969832 81969832 + Missense_Mutation SNP C C G TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 16 81969832 81969832 C G SNP PLCG2 ENST00000359376 human ensembl 69_37n +1 known missense c.2901 p.I967M 0.998 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pirsf_PLC-gamma,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCG2 HGNC ENSG00000197943 86 0 0.00 52 14 21.21 - - - PTBP3 0 genome.wustl.edu 37 9 114997156 114997156 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 9 114997156 114997156 G A SNP PTBP3 ENST00000458258 human ensembl 69_37n -1 known missense c.926 p.S309L 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP3 HGNC ENSG00000119314 147 0 0.00 124 18 12.68 - - - RGS21 0 genome.wustl.edu 37 1 192335120 192335120 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 1 192335120 192335120 G A SNP RGS21 ENST00000417209 human ensembl 69_37n +1 known missense c.325 p.D109N 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS21 HGNC ENSG00000253148 459 0 0.00 346 58 14.36 - - - ROBO1 0 genome.wustl.edu 37 3 78666819 78666819 + Silent SNP C C G TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 3 78666819 78666819 C G SNP ROBO1 ENST00000464233 human ensembl 69_37n -1 known silent c.4248 p.L1416 0.971 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 232 0 0.00 162 29 15.18 - - - RPL26 0 genome.wustl.edu 37 17 8285480 8285480 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 17 8285480 8285480 C T SNP RPL26 ENST00000293842 human ensembl 69_37n -1 known missense c.149 p.R50Q 1.000 superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc - no_errors RPL26 HGNC ENSG00000161970 129 0 0.00 90 14 13.46 - - - RYR1 0 genome.wustl.edu 37 19 38966090 38966090 + Silent SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 19 38966090 38966090 G A SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known silent c.4293 p.T1431 1.000 pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 108 0 0.00 90 10 10.00 - - - SEC23IP 0 genome.wustl.edu 37 10 121658202 121658202 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 10 121658202 121658202 G A SNP SEC23IP ENST00000369075 human ensembl 69_37n +1 known missense c.427 p.G143S 0.284 NULL pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD - no_errors SEC23IP HGNC ENSG00000107651 685 2 0.29 768 109 12.41 - - - SERPINE3 0 genome.wustl.edu 37 13 51915321 51915321 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 13 51915321 51915321 G A SNP SERPINE3 ENST00000521255 human ensembl 69_37n +1 known missense c.94 p.E32K 0.177 pfam_Sepin_dom,superfamily_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINE3 HGNC ENSG00000253309 304 0 0.00 273 31 10.20 - - - SKIV2L 0 genome.wustl.edu 37 6 31931758 31931758 + Silent SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 6 31931758 31931758 C T SNP SKIV2L ENST00000375394 human ensembl 69_37n +1 known silent c.1716 p.F572 1.000 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 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 93 0 0.00 77 14 15.38 - - - SLC5A8 0 genome.wustl.edu 37 12 101555848 101555848 + Silent SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 12 101555848 101555848 G A SNP SLC5A8 ENST00000536262 human ensembl 69_37n -1 known silent c.1534 p.L512 0.211 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC ENSG00000256870 510 0 0.00 437 68 13.47 - - - SLC8A1 0 genome.wustl.edu 37 2 40402401 40402401 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 2 40402401 40402401 C T SNP SLC8A1 ENST00000332839 human ensembl 69_37n -1 known missense c.1936 p.G646S 1.000 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_N,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 253 0 0.00 166 21 11.23 - - - SNX4 0 genome.wustl.edu 37 3 125216188 125216188 + Silent SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 3 125216188 125216188 C T SNP SNX4 ENST00000251775 human ensembl 69_37n -1 known silent c.594 p.L198 0.918 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX4 HGNC ENSG00000114520 83 0 0.00 112 15 11.81 - - - STK31 0 genome.wustl.edu 37 7 23827616 23827616 + Missense_Mutation SNP G G T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 7 23827616 23827616 G T SNP STK31 ENST00000355870 human ensembl 69_37n +1 known missense c.2505 p.M835I 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,pfscan_Prot_kinase_cat_dom pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom - no_errors STK31 HGNC ENSG00000196335 300 0 0.00 259 32 11.00 - - - SUV420H1 0 genome.wustl.edu 37 11 67939066 67939066 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 11 67939066 67939066 G A SNP SUV420H1 ENST00000304363 human ensembl 69_37n -1 known missense c.764 p.S255F 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 116 0 0.00 140 18 11.32 - - - SYMPK 0 genome.wustl.edu 37 19 46341874 46341874 + Splice_Site SNP C C G TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 19 46341874 46341874 C G SNP SYMPK ENST00000245934 human ensembl 69_37n -1 known splice_site c.1088-1 e9-1 1.000 - - - no_errors SYMPK HGNC ENSG00000125755 68 0 0.00 59 15 20.27 - - - SYNE2 0 genome.wustl.edu 37 14 64669610 64669610 + Missense_Mutation SNP G G C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 14 64669610 64669610 G C SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.18130 p.E6044Q 1.000 pfam_Spectrin_repeat,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 214 0 0.00 213 30 12.35 - - - TAPBPL 0 genome.wustl.edu 37 12 6567931 6567931 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 12 6567931 6567931 G A SNP TAPBPL ENST00000266556 human ensembl 69_37n +1 known missense c.1025 p.G342E 0.216 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like - no_errors TAPBPL HGNC ENSG00000139192 67 0 0.00 62 9 12.68 - - - TCF4 0 genome.wustl.edu 37 18 52896160 52896160 + Silent SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 18 52896160 52896160 G A SNP TCF4 ENST00000398339 human ensembl 69_37n -1 known silent c.2103 p.L701 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TCF4 HGNC ENSG00000196628 122 0 0.00 122 16 11.59 - - - TET1 0 genome.wustl.edu 37 10 70333675 70333675 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 10 70333675 70333675 C T SNP TET1 ENST00000373644 human ensembl 69_37n +1 known missense c.1580 p.S527L 0.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 124 0 0.00 151 21 12.14 - - - TET1 0 genome.wustl.edu 37 10 70451292 70451292 + Silent SNP C C G TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 10 70451292 70451292 C G SNP TET1 ENST00000373644 human ensembl 69_37n +1 known silent c.6132 p.L2044 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 223 0 0.00 212 30 12.35 - - - TGIF2 0 genome.wustl.edu 37 20 35207199 35207199 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 20 35207199 35207199 G A SNP TGIF2 ENST00000373872 human ensembl 69_37n +1 known missense c.22 p.E8K 0.981 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TGIF2 HGNC ENSG00000118707 86 0 0.00 105 21 16.67 - - - TGM2 0 genome.wustl.edu 37 20 36776435 36776435 + Silent SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 20 36776435 36776435 G A SNP TGM2 ENST00000361475 human ensembl 69_37n -1 known silent c.609 p.F203 0.997 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 31 0 0.00 23 5 17.86 - - - TMEM108 0 genome.wustl.edu 37 3 133098943 133098943 + Missense_Mutation SNP G G C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 3 133098943 133098943 G C SNP TMEM108 ENST00000321871 human ensembl 69_37n +1 known missense c.388 p.E130Q 0.046 NULL NULL - no_errors TMEM108 HGNC ENSG00000144868 140 0 0.00 70 14 16.67 - - - TMEM87B 0 genome.wustl.edu 37 2 112873704 112873704 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 2 112873704 112873704 C T SNP TMEM87B ENST00000283206 human ensembl 69_37n +1 known missense c.1652 p.S551L 1.000 NULL pfam_TM_rcpt_euk - no_errors TMEM87B HGNC ENSG00000153214 61 0 0.00 38 7 15.56 - - - TMEM99 0 genome.wustl.edu 37 17 38991475 38991475 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 17 38991475 38991475 C T SNP TMEM99 ENST00000301665 human ensembl 69_37n +1 known missense c.707 p.S236F 0.002 NULL NULL - no_errors TMEM99 HGNC ENSG00000167920 358 0 0.00 374 47 11.11 - - - TMPRSS7 0 genome.wustl.edu 37 3 111768781 111768781 + Silent SNP C C G TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 3 111768781 111768781 C G SNP TMPRSS7 ENST00000419127 human ensembl 69_37n +1 known silent c.672 p.L224 0.004 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS7 HGNC ENSG00000176040 248 0 0.00 161 33 17.01 - - - TOR1AIP1 0 genome.wustl.edu 37 1 179851766 179851767 + Frame_Shift_Ins INS - - A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 1 179851766 179851767 - A INS TOR1AIP1 ENST00000435319 human ensembl 69_37n +1 known frame_shift_ins c.129_130 p.A43fs 0.979:0.995 NULL pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP1 HGNC ENSG00000143337 15 0 0.00 23 12 34.29 - - - TRBV5-1 0 genome.wustl.edu 37 7 142021121 142021121 + Missense_Mutation SNP G G C TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 7 142021121 142021121 G C SNP TRBV5-1 ENST00000390381 human ensembl 69_37n +1 known missense c.101 p.R34T 0.001 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV5-1 HGNC ENSG00000211734 135 0 0.00 136 16 10.53 - - - VWA7 0 genome.wustl.edu 37 6 31733811 31733811 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 6 31733811 31733811 G A SNP VWA7 ENST00000375686 human ensembl 69_37n -1 known missense c.2348 p.S783L 0.958 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 82 0 0.00 65 16 19.51 - - - WNK1 0 genome.wustl.edu 37 12 994442 994442 + Missense_Mutation SNP C C T TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 12 994442 994442 C T SNP WNK1 ENST00000530271 human ensembl 69_37n +1 known missense c.5966 p.S1989L 0.254 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 472 0 0.00 396 67 14.44 - - - ZNF160 0 genome.wustl.edu 37 19 53573310 53573310 + Missense_Mutation SNP C C G TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 19 53573310 53573310 C G SNP ZNF160 ENST00000418871 human ensembl 69_37n -1 known missense c.477 p.Q159H 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF160 HGNC ENSG00000170949 298 0 0.00 374 84 18.30 - - - ZNF350 0 genome.wustl.edu 37 19 52471868 52471868 + Missense_Mutation SNP C C G TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 19 52471868 52471868 C G SNP ZNF350 ENST00000243644 human ensembl 69_37n -1 known missense c.201 p.W67C 0.301 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF350 HGNC ENSG00000256683 364 0 0.00 396 100 20.12 - - - ZNF574 0 genome.wustl.edu 37 19 42585168 42585168 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 19 42585168 42585168 G A SNP ZNF574 ENST00000222339 human ensembl 69_37n +1 known missense c.2680 p.A894T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 202 0 0.00 94 16 14.41 - - - ZNF800 0 genome.wustl.edu 37 7 127013543 127013543 + Missense_Mutation SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28be7b14-730d-44f7-bf93-a7590b4a08f8 42c2f167-31c5-4e16-8957-a01fd498e05d 7 127013543 127013543 G A SNP ZNF800 ENST00000265827 human ensembl 69_37n -1 known missense c.1847 p.S616F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 310 0 0.00 196 25 11.31 - - -