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 ABCA12 0 genome.wustl.edu 37 2 215815716 215815716 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 215815716 215815716 C G SNP ABCA12 ENST00000272895 human ensembl 69_37n -1 known missense c.6739 p.G2247R 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 910 1 0.11 597 319 34.75 - - - ACAP3 0 genome.wustl.edu 37 1 1229567 1229567 + Missense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 1229567 1229567 C T SNP ACAP3 ENST00000353662 human ensembl 69_37n -1 known missense c.1927 p.V643I 0.713 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,prints_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP - no_errors ACAP3 HGNC ENSG00000131584 33 0 0.00 15 19 55.88 - - - ACOX1 0 genome.wustl.edu 37 17 73949695 73949695 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 17 73949695 73949695 G C SNP ACOX1 ENST00000293217 human ensembl 69_37n -1 known missense c.781 p.P261A 1.000 superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ENSG00000161533 257 0 0.00 74 89 54.27 - - - ACTN4 0 genome.wustl.edu 37 19 39219701 39219701 + Frame_Shift_Del DEL C C - TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 19 39219701 39219701 C - DEL ACTN4 ENST00000252699 human ensembl 69_37n +1 known frame_shift_del c.2484 p.Q829fs 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 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 ACTN4 HGNC ENSG00000130402 96 0 0.00 36 15 28.85 - - - ADAMTS19 0 genome.wustl.edu 37 5 128797410 128797410 + Missense_Mutation SNP C C A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 5 128797410 128797410 C A SNP ADAMTS19 ENST00000274487 human ensembl 69_37n +1 known missense c.689 p.P230H 0.993 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 49 0 0.00 30 5 14.29 - - - ADCY2 0 genome.wustl.edu 37 5 7820754 7820754 + Silent SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 5 7820754 7820754 C G SNP ADCY2 ENST00000338316 human ensembl 69_37n +1 known silent c.3075 p.V1025 0.913 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 ADCY2 HGNC ENSG00000078295 346 0 0.00 374 111 22.84 - - - ADORA1 0 genome.wustl.edu 37 1 203134380 203134380 + RNA SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 203134380 203134380 C T SNP ADORA1 ENST00000464019 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ADORA1 HGNC ENSG00000163485 115 0 0.00 68 13 16.05 - - - AEBP1 0 genome.wustl.edu 37 7 44153560 44153560 + Silent SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 7 44153560 44153560 C G SNP AEBP1 ENST00000223357 human ensembl 69_37n +1 known silent c.3177 p.T1059 0.000 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 206 0 0.00 194 53 21.37 - - - AKAP9 0 genome.wustl.edu 37 7 91718833 91718833 + Missense_Mutation SNP A A C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 7 91718833 91718833 A C SNP AKAP9 ENST00000359028 human ensembl 69_37n +1 known missense c.9360 p.K3120N 0.719 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 338 1 0.29 349 162 31.64 - - - ALCAM 0 genome.wustl.edu 37 3 105260577 105260577 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 105260577 105260577 G C SNP ALCAM ENST00000306107 human ensembl 69_37n +1 known missense c.959 p.S320T 0.998 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors ALCAM HGNC ENSG00000170017 285 0 0.00 118 175 59.73 - - - ALPK3 0 genome.wustl.edu 37 15 85405916 85405916 + Missense_Mutation SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 15 85405916 85405916 G T SNP ALPK3 ENST00000258888 human ensembl 69_37n +1 known missense c.4786 p.D1596Y 1.000 superfamily_Kinase-like_dom,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ENSG00000136383 173 1 0.57 146 59 28.64 - - - ANKRD30A 0 genome.wustl.edu 37 10 37508523 37508523 + Missense_Mutation SNP A A G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 10 37508523 37508523 A G SNP ANKRD30A ENST00000361713 human ensembl 69_37n +1 known missense c.3715 p.M1239V 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 269 0 0.00 209 90 30.10 - - - APLP1 0 genome.wustl.edu 37 19 36370329 36370329 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 19 36370329 36370329 G C SNP APLP1 ENST00000221891 human ensembl 69_37n +1 known missense c.1942 p.E648Q 1.000 pfam_APP_amyloid_C,prints_Amyloid_glyco pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 114 0 0.00 74 38 33.93 - - - APOB 0 genome.wustl.edu 37 2 21233256 21233256 + Missense_Mutation SNP C C A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 21233256 21233256 C A SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.6484 p.D2162Y 0.883 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 297 1 0.34 312 161 34.04 - - - ARHGAP11A 0 genome.wustl.edu 37 15 32929259 32929259 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 15 32929259 32929259 C G SNP ARHGAP11A ENST00000361627 human ensembl 69_37n +1 known missense c.2285 p.S762C 0.006 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ENSG00000198826 103 0 0.00 93 42 31.11 - - - ARHGEF1 0 genome.wustl.edu 37 19 42410647 42410647 + Missense_Mutation SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 19 42410647 42410647 G T SNP ARHGEF1 ENST00000337665 human ensembl 69_37n +1 known missense c.2575 p.D859Y 1.000 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 68 0 0.00 35 18 33.96 - - - ARID3B 0 genome.wustl.edu 37 15 74836815 74836815 + Missense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 15 74836815 74836815 G A SNP ARID3B ENST00000346246 human ensembl 69_37n +1 known missense c.538 p.E180K 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ENSG00000179361 71 0 0.00 47 33 41.25 - - - ARID5B 0 genome.wustl.edu 37 10 63661995 63661998 + Frame_Shift_Del DEL AAGA AAGA - TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 10 63661995 63661998 AAGA - DEL ARID5B ENST00000279873 human ensembl 69_37n +1 known frame_shift_del c.99_102 p.R34fs 1.000:1.000:1.000:1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 249 1 0.40 160 88 35.34 - - - ATP2B2 0 genome.wustl.edu 37 3 10430045 10430045 + Missense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 10430045 10430045 C T SNP ATP2B2 ENST00000352432 human ensembl 69_37n -1 known missense c.823 p.A275T 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 482 0 0.00 120 282 70.15 - - - ATP2C2 0 genome.wustl.edu 37 16 84473108 84473108 + Missense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 16 84473108 84473108 C T SNP ATP2C2 ENST00000262429 human ensembl 69_37n +1 known missense c.1187 p.T396M 0.947 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2C2 HGNC ENSG00000064270 383 0 0.00 266 127 32.23 - - - B3GALNT1 0 genome.wustl.edu 37 3 160804030 160804030 + Silent SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 160804030 160804030 G T SNP B3GALNT1 ENST00000320474 human ensembl 69_37n -1 known silent c.513 p.P171 0.168 pfam_Glyco_trans_31,pfam_Fringe-like pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GALNT1 HGNC ENSG00000169255 147 0 0.00 184 81 30.57 - - - BAI1 0 genome.wustl.edu 37 8 143618431 143618431 + Missense_Mutation SNP C C A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 8 143618431 143618431 C A SNP BAI1 ENST00000323289 human ensembl 69_37n +1 known missense c.3654 p.H1218Q 0.704 NULL pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 47 0 0.00 21 9 30.00 - - - BANK1 0 genome.wustl.edu 37 4 102946423 102946423 + Missense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 4 102946423 102946423 G A SNP BANK1 ENST00000322953 human ensembl 69_37n +1 known missense c.1351 p.E451K 0.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 529 0 0.00 370 245 39.84 - - - BARX2 0 genome.wustl.edu 37 11 129306882 129306882 + Nonsense_Mutation SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 11 129306882 129306882 G T SNP BARX2 ENST00000281437 human ensembl 69_37n +1 known nonsense c.424 p.E142* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors BARX2 HGNC ENSG00000043039 96 0 0.00 32 4 11.11 - - - BCL2L12 0 genome.wustl.edu 37 19 50173639 50173639 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 19 50173639 50173639 C G SNP BCL2L12 ENST00000246785 human ensembl 69_37n +1 known missense c.848 p.A283G 1.000 NULL NULL - no_errors BCL2L12 HGNC ENSG00000126453 13 0 0.00 1 4 80.00 - - - BMP5 0 genome.wustl.edu 37 6 55739309 55739309 + Missense_Mutation SNP A A G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 6 55739309 55739309 A G SNP BMP5 ENST00000370830 human ensembl 69_37n -1 known missense c.355 p.S119P 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 290 0 0.00 222 117 34.41 - - - BRD9 0 genome.wustl.edu 37 5 870670 870670 + Nonsense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 5 870670 870670 G A SNP BRD9 ENST00000523139 human ensembl 69_37n -1 known nonsense c.163 p.Q55* 0.000 pfam_DUF3512 pfam_DUF3512 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BRD9 HGNC ENSG00000028310 218 0 0.00 229 36 13.58 - - - C2orf81 0 genome.wustl.edu 37 2 74643227 74643227 + Nonsense_Mutation SNP C C A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 74643227 74643227 C A SNP C2orf81 ENST00000290390 human ensembl 69_37n -1 known nonsense c.169 p.E57* 0.993 NULL NULL - no_errors C2orf81 HGNC ENSG00000159239 37 0 0.00 23 14 37.84 - - - C8orf44 0 genome.wustl.edu 37 8 67589946 67589946 + Missense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 8 67589946 67589946 G A SNP C8orf44 ENST00000390159 human ensembl 69_37n +1 known missense c.3 p.M1I 0.000 NULL NULL - no_errors C8orf44 HGNC ENSG00000213865 287 0 0.00 279 95 25.40 - - - C9orf3 0 genome.wustl.edu 37 9 97522822 97522822 + Missense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 9 97522822 97522822 G A SNP C9orf3 ENST00000375315 human ensembl 69_37n +1 known missense c.757 p.E253K 0.043 NULL pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 124 1 0.80 30 97 76.38 - - - CANX 0 genome.wustl.edu 37 5 179134161 179134161 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 5 179134161 179134161 G C SNP CANX ENST00000415618 human ensembl 69_37n +1 known missense c.379 p.D127H 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl pfam_Calret/calnex,superfamily_ConA-like_lec_gl,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex - no_errors CANX HGNC ENSG00000127022 607 1 0.16 524 585 52.75 - - - CARNS1 0 genome.wustl.edu 37 11 67191270 67191270 + Missense_Mutation SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 11 67191270 67191270 G T SNP CARNS1 ENST00000445895 human ensembl 69_37n +1 known missense c.2051 p.G684V 0.999 pfscan_ATP-grasp superfamily_PreATP-grasp_fold,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 112 0 0.00 37 24 39.34 - - - CBLB 0 genome.wustl.edu 37 3 105397410 105397410 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 105397410 105397410 C G SNP CBLB ENST00000264122 human ensembl 69_37n -1 known missense c.2434 p.D812H 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 321 0 0.00 104 202 66.01 - - - CCNB3 0 genome.wustl.edu 37 X 50053928 50053928 + Missense_Mutation SNP C C A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c X 50053928 50053928 C A SNP CCNB3 ENST00000276014 human ensembl 69_37n +1 known missense c.2759 p.T920N 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 247 0 0.00 87 116 57.14 - - - CDC20B 0 genome.wustl.edu 37 5 54429340 54429340 + Silent SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 5 54429340 54429340 G C SNP CDC20B ENST00000296733 human ensembl 69_37n -1 known silent c.597 p.V199 0.221 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20B HGNC ENSG00000164287 258 0 0.00 105 115 52.27 - - - CDH12 0 genome.wustl.edu 37 5 21975200 21975200 + Missense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 5 21975200 21975200 C T SNP CDH12 ENST00000382254 human ensembl 69_37n -1 known missense c.526 p.G176S 1.000 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH12 HGNC ENSG00000154162 277 0 0.00 410 48 10.48 - - - CDK16 0 genome.wustl.edu 37 X 47086816 47086816 + Nonsense_Mutation SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c X 47086816 47086816 G T SNP CDK16 ENST00000520141 human ensembl 69_37n +1 putative nonsense c.82 p.E28* 1.000 superfamily_Kinase-like_dom superfamily_Kinase-like_dom - no_start_codon:pseudogene:no_stop_codon CDK16 HGNC ENSG00000102225 197 0 0.00 55 64 53.78 - - - CLEC2D 0 genome.wustl.edu 37 12 9833616 9833616 + Silent SNP T T G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 12 9833616 9833616 T G SNP CLEC2D ENST00000261340 human ensembl 69_37n +1 known silent c.159 p.V53 0.000 pfam_Herpes_UL45-like pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2D HGNC ENSG00000069493 627 0 0.00 956 136 12.45 - - - CLEC9A 0 genome.wustl.edu 37 12 10205227 10205227 + Splice_Site SNP A A T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 12 10205227 10205227 A T SNP CLEC9A ENST00000355819 human ensembl 69_37n +1 putative splice_site c.1-2 e1-2 0.001 - - - no_errors CLEC9A HGNC ENSG00000197992 151 0 0.00 209 64 23.44 - - - CLMN 0 genome.wustl.edu 37 14 95669354 95669354 + Nonsense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 14 95669354 95669354 G A SNP CLMN ENST00000298912 human ensembl 69_37n -1 known nonsense c.2332 p.Q778* 0.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 96 0 0.00 50 27 35.06 - - - CNTNAP3B 0 genome.wustl.edu 37 9 43849775 43849775 + Missense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 9 43849775 43849775 C T SNP CNTNAP3B ENST00000377561 human ensembl 69_37n +1 known missense c.1826 p.A609V 0.868 smart_EGF-like,pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CNTNAP3B HGNC ENSG00000154529 23 0 0.00 18 5 21.74 - - - CNTNAP5 0 genome.wustl.edu 37 2 125204421 125204421 + Silent SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 125204421 125204421 G A SNP CNTNAP5 ENST00000431078 human ensembl 69_37n +1 known silent c.825 p.E275 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 137 0 0.00 81 21 20.59 - - - COL16A1 0 genome.wustl.edu 37 1 32131199 32131199 + Silent SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 32131199 32131199 G T SNP COL16A1 ENST00000271069 human ensembl 69_37n -1 known silent c.3477 p.G1159 0.998 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 143 0 0.00 58 43 42.57 - - - COPS3 0 genome.wustl.edu 37 17 17171253 17171253 + Missense_Mutation SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 17 17171253 17171253 G T SNP COPS3 ENST00000268717 human ensembl 69_37n -1 known missense c.387 p.D129E 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors COPS3 HGNC ENSG00000141030 575 0 0.00 180 249 57.91 - - - CPT2 0 genome.wustl.edu 37 1 53675880 53675880 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 53675880 53675880 G C SNP CPT2 ENST00000371486 human ensembl 69_37n +1 known missense c.534 p.L178F 0.998 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT2 HGNC ENSG00000157184 219 0 0.00 149 30 16.76 - - - CPXM1 0 genome.wustl.edu 37 20 2776651 2776651 + Missense_Mutation SNP A A G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 20 2776651 2776651 A G SNP CPXM1 ENST00000380605 human ensembl 69_37n -1 known missense c.1399 p.Y467H 0.987 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors CPXM1 HGNC ENSG00000088882 353 0 0.00 90 108 54.55 - - - CSRNP2 0 genome.wustl.edu 37 12 51457830 51457830 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 12 51457830 51457830 G C SNP CSRNP2 ENST00000228515 human ensembl 69_37n -1 known missense c.1331 p.P444R 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP2 HGNC ENSG00000110925 174 0 0.00 97 14 12.50 - - - CT45A5 0 genome.wustl.edu 37 X 134947485 134947485 + Silent SNP A A T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c X 134947485 134947485 A T SNP CT45A5 ENST00000370724 human ensembl 69_37n -1 known silent c.462 p.P154 0.006 NULL superfamily_RmlC_Cupin - no_errors CT45A5 HGNC ENSG00000242284 90 0 0.00 21 45 68.18 - - - CUBN 0 genome.wustl.edu 37 10 16893355 16893355 + Missense_Mutation SNP T T C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 10 16893355 16893355 T C SNP CUBN ENST00000377833 human ensembl 69_37n -1 known missense c.9542 p.K3181R 0.135 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 251 0 0.00 183 101 35.56 - - - CYP2C8 0 genome.wustl.edu 37 10 96829054 96829054 + Missense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 10 96829054 96829054 G A SNP CYP2C8 ENST00000371270 human ensembl 69_37n -1 known missense c.106 p.L36F 0.995 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C8 HGNC ENSG00000138115 206 0 0.00 124 100 44.64 - - - DCHS2 0 genome.wustl.edu 37 4 155156862 155156862 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 4 155156862 155156862 G C SNP DCHS2 ENST00000357232 human ensembl 69_37n -1 known missense c.7577 p.S2526C 0.003 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 136 0 0.00 77 112 59.26 - - - DLX5 0 genome.wustl.edu 37 7 96650328 96650328 + Missense_Mutation SNP T T G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 7 96650328 96650328 T G SNP DLX5 ENST00000222598 human ensembl 69_37n -1 known missense c.590 p.K197T 1.000 superfamily_Homeodomain-like,smart_Homeodomain pfam_Distal-less_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 250 0 0.00 133 69 34.16 - - - DLX5 0 genome.wustl.edu 37 7 96651583 96651583 + Silent SNP A A G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 7 96651583 96651583 A G SNP DLX5 ENST00000222598 human ensembl 69_37n -1 known silent c.454 p.L152 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Distal-less_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 250 0 0.00 170 81 32.27 - - - DNAH7 0 genome.wustl.edu 37 2 196740462 196740462 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 196740462 196740462 G C SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known missense c.6223 p.L2075V 1.000 smart_AAA+_ATPase 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 178 0 0.00 148 86 36.75 - - - DNAJC13 0 genome.wustl.edu 37 3 132247140 132247140 + Nonsense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 132247140 132247140 C G SNP DNAJC13 ENST00000509279 human ensembl 69_37n +1 known nonsense c.95 p.S32* 0.999 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DNAJC13 HGNC ENSG00000138246 239 0 0.00 153 159 50.96 - - - ECE2 0 genome.wustl.edu 37 3 184008058 184008058 + Missense_Mutation SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 184008058 184008058 G T SNP ECE2 ENST00000402825 human ensembl 69_37n +1 known missense c.1921 p.D641Y 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 275 1 0.36 286 137 32.39 - - - EML6 0 genome.wustl.edu 37 2 55093957 55093957 + Missense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 55093957 55093957 G A SNP EML6 ENST00000356458 human ensembl 69_37n +1 novel missense c.1987 p.A663T 0.988 NULL pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 139 1 0.71 101 59 36.88 - - - ENTPD2 0 genome.wustl.edu 37 9 139946068 139946068 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 9 139946068 139946068 G C SNP ENTPD2 ENST00000355097 human ensembl 69_37n -1 known missense c.280 p.Q94E 0.999 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD2 HGNC ENSG00000054179 100 0 0.00 53 21 28.38 - - - EP400NL 0 genome.wustl.edu 37 12 132589226 132589226 + Missense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 12 132589226 132589226 G A SNP EP400NL ENST00000376625 human ensembl 69_37n +1 known missense c.661 p.G221S 0.998 NULL NULL - no_errors EP400NL HGNC ENSG00000185684 19 0 0.00 4 2 33.33 - - - ETNK1 0 genome.wustl.edu 37 12 22796922 22796922 + Nonsense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 12 22796922 22796922 G A SNP ETNK1 ENST00000538218 human ensembl 69_37n +1 putative nonsense c.621 p.W207* 1.000 pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ETNK1 HGNC ENSG00000139163 143 0 0.00 345 69 16.67 - - - F5 0 genome.wustl.edu 37 1 169509636 169509636 + Silent SNP A A G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 169509636 169509636 A G SNP F5 ENST00000367796 human ensembl 69_37n -1 known silent c.4707 p.P1569 0.896 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 430 2 0.46 569 94 14.18 - - - FAM161A 0 genome.wustl.edu 37 2 62067332 62067332 + Nonsense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 62067332 62067332 G C SNP FAM161A ENST00000418113 human ensembl 69_37n -1 known nonsense c.794 p.S265* 0.859 pfam_UPF0564 pfam_UPF0564 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FAM161A HGNC ENSG00000170264 598 0 0.00 474 320 39.22 - - - FAM86C1 0 genome.wustl.edu 37 11 71507236 71507236 + Silent SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 11 71507236 71507236 C T SNP FAM86C1 ENST00000528685 human ensembl 69_37n +1 putative silent c.333 p.G111 0.002 NULL NULL - no_errors FAM86C1 HGNC ENSG00000158483 158 0 0.00 61 32 34.41 - - - FBN1 0 genome.wustl.edu 37 15 48717990 48717990 + Missense_Mutation SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 15 48717990 48717990 G T SNP FBN1 ENST00000316623 human ensembl 69_37n -1 known missense c.7276 p.H2426N 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_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 445 1 0.22 305 164 34.82 - - - FCER1A 0 genome.wustl.edu 37 1 159273955 159273955 + Missense_Mutation SNP A A T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 159273955 159273955 A T SNP FCER1A ENST00000368115 human ensembl 69_37n +1 known missense c.314 p.Y105F 0.001 smart_Ig_sub,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCER1A HGNC ENSG00000179639 148 0 0.00 150 180 54.55 - - - FGA 0 genome.wustl.edu 37 4 155510695 155510695 + Missense_Mutation SNP C C A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 4 155510695 155510695 C A SNP FGA ENST00000302053 human ensembl 69_37n -1 known missense c.74 p.G25V 0.081 NULL pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC ENSG00000171560 266 0 0.00 188 214 53.10 - - - FGF7 0 genome.wustl.edu 37 15 49716609 49716609 + Nonsense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 15 49716609 49716609 C T SNP FGF7 ENST00000267843 human ensembl 69_37n +1 known nonsense c.115 p.Q39* 1.000 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF7 HGNC ENSG00000140285 282 0 0.00 227 139 37.57 - - - FIGF 0 genome.wustl.edu 37 X 15381257 15381257 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c X 15381257 15381257 G C SNP FIGF ENST00000297904 human ensembl 69_37n -1 known missense c.275 p.T92S 0.997 NULL pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors FIGF HGNC ENSG00000165197 188 0 0.00 48 72 60.00 - - - FLG 0 genome.wustl.edu 37 1 152279371 152279371 + Missense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 152279371 152279371 C T SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.7991 p.S2664N 0.111 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 23 0 0.00 13 32 71.11 - - - FLI1 0 genome.wustl.edu 37 11 128638063 128638063 + Missense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 11 128638063 128638063 G A SNP FLI1 ENST00000429175 human ensembl 69_37n +1 known missense c.281 p.G94E 0.995 superfamily_SAM/pointed pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors FLI1 HGNC ENSG00000151702 351 0 0.00 62 104 62.28 - - - FNDC5 0 genome.wustl.edu 37 1 33333876 33333876 + Silent SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 33333876 33333876 G A SNP FNDC5 ENST00000373471 human ensembl 69_37n -1 known silent c.99 p.I33 1.000 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors FNDC5 HGNC ENSG00000160097 152 0 0.00 56 52 48.15 - - - FRAS1 0 genome.wustl.edu 37 4 79188077 79188077 + Missense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 4 79188077 79188077 G A SNP FRAS1 ENST00000508900 human ensembl 69_37n +1 putative missense c.304 p.E102K 0.491 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,superfamily_Growth_fac_rcpt,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,pfscan_VWF_C - pseudogene:no_stop_codon:bad_bp_length_for_coding_region FRAS1 HGNC ENSG00000138759 238 1 0.42 70 74 51.39 - - - GCLC 0 genome.wustl.edu 37 6 53372344 53372344 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 6 53372344 53372344 C G SNP GCLC ENST00000229416 human ensembl 69_37n -1 known missense c.1018 p.G340R 1.000 pfam_GCS pfam_GCS - no_errors GCLC HGNC ENSG00000001084 519 0 0.00 774 122 13.62 - - - GIPR 0 genome.wustl.edu 37 19 46178065 46178065 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 19 46178065 46178065 C G SNP GIPR ENST00000590918 human ensembl 69_37n +1 known missense c.614 p.A205G 0.288 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_GIP_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like - no_errors GIPR HGNC ENSG00000010310 108 1 0.92 63 32 33.68 - - - GPA33 0 genome.wustl.edu 37 1 167038307 167038307 + Silent SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 167038307 167038307 G A SNP GPA33 ENST00000367868 human ensembl 69_37n -1 known silent c.267 p.V89 0.009 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors GPA33 HGNC ENSG00000143167 400 0 0.00 407 60 12.79 - - - GPR153 0 genome.wustl.edu 37 1 6311508 6311508 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 6311508 6311508 G C SNP GPR153 ENST00000377893 human ensembl 69_37n -1 known missense c.869 p.A290G 1.000 pfam_7TM_GPCR_Rhodpsn,prints_GPCR_153/162 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 32 0 0.00 4 14 77.78 - - - GPR160 0 genome.wustl.edu 37 3 169802102 169802102 + Silent SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 169802102 169802102 G C SNP GPR160 ENST00000355897 human ensembl 69_37n +1 known silent c.342 p.L114 0.002 pfscan_GPCR_Rhodpsn_supfam pfscan_GPCR_Rhodpsn_supfam - no_errors GPR160 HGNC ENSG00000173890 231 1 0.43 359 105 22.63 - - - GPR180 0 genome.wustl.edu 37 13 95273462 95273462 + Silent SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 13 95273462 95273462 C T SNP GPR180 ENST00000376958 human ensembl 69_37n +1 known silent c.867 p.G289 0.974 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 277 1 0.36 396 106 21.12 - - - GRB7 0 genome.wustl.edu 37 17 37899236 37899236 + Missense_Mutation SNP T T A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 17 37899236 37899236 T A SNP GRB7 ENST00000445327 human ensembl 69_37n +1 known missense c.461 p.L154Q 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 93 0 0.00 36 5 12.20 - - - GRIK2 0 genome.wustl.edu 37 6 102483412 102483412 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 6 102483412 102483412 C G SNP GRIK2 ENST00000421544 human ensembl 69_37n +1 known missense c.2282 p.S761C 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 GRIK2 HGNC ENSG00000164418 83 0 0.00 28 63 69.23 - - - GRM8 0 genome.wustl.edu 37 7 126173298 126173298 + Nonsense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 7 126173298 126173298 C T SNP GRM8 ENST00000339582 human ensembl 69_37n -1 known nonsense c.2138 p.W713* 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC ENSG00000179603 167 0 0.00 124 76 37.81 - - - HIF3A 0 genome.wustl.edu 37 19 46828875 46828875 + Missense_Mutation SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 19 46828875 46828875 G T SNP HIF3A ENST00000377670 human ensembl 69_37n +1 known missense c.1419 p.E473D 0.979 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 203 0 0.00 150 72 32.43 - - - HIST1H2BH 0 genome.wustl.edu 37 6 26251947 26251947 + Silent SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 6 26251947 26251947 G A SNP HIST1H2BH ENST00000356350 human ensembl 69_37n +1 known silent c.69 p.Q23 0.998 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BH HGNC ENSG00000197459 472 1 0.21 338 119 26.04 - - - HTR2A 0 genome.wustl.edu 37 13 47409443 47409443 + Silent SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 13 47409443 47409443 G A SNP HTR2A ENST00000378688 human ensembl 69_37n -1 known silent c.945 p.I315 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2A_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 151 1 0.65 97 61 38.61 - - - HTR2B 0 genome.wustl.edu 37 2 231988413 231988413 + Silent SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 231988413 231988413 G C SNP HTR2B ENST00000258400 human ensembl 69_37n -1 known silent c.66 p.T22 0.028 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2B_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2B HGNC ENSG00000135914 355 1 0.28 362 222 38.01 - - - IFI35 0 genome.wustl.edu 37 17 41165360 41165360 + Silent SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 17 41165360 41165360 C G SNP IFI35 ENST00000438323 human ensembl 69_37n +1 known silent c.345 p.P115 0.681 pfam_Nmi/IFP35 pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N - no_errors IFI35 HGNC ENSG00000068079 107 0 0.00 60 17 22.08 - - - IL21R 0 genome.wustl.edu 37 16 27448978 27448978 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 16 27448978 27448978 G C SNP IL21R ENST00000337929 human ensembl 69_37n +1 known missense c.322 p.E108Q 0.985 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL21R HGNC ENSG00000103522 199 0 0.00 117 69 37.10 - - - IMPDH1 0 genome.wustl.edu 37 7 128038635 128038635 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 7 128038635 128038635 G C SNP IMPDH1 ENST00000338791 human ensembl 69_37n -1 known missense c.907 p.L303V 1.000 pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_Cysta_beta_synth_core,tigrfam_IMP_DH - no_errors IMPDH1 HGNC ENSG00000106348 82 0 0.00 40 47 54.02 - - - KBTBD10 0 genome.wustl.edu 37 2 170366886 170366886 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 170366886 170366886 G C SNP KBTBD10 ENST00000284669 human ensembl 69_37n +1 known missense c.598 p.V200L 0.982 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD10 HGNC ENSG00000239474 414 0 0.00 520 174 25.07 - - - KCNA4 0 genome.wustl.edu 37 11 30034200 30034200 + Missense_Mutation SNP T T C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 11 30034200 30034200 T C SNP KCNA4 ENST00000328224 human ensembl 69_37n -1 known missense c.26 p.E9G 1.000 pfam_K_chnl_volt-dep_Kv1.4_TID,prints_K_chnl_volt-dep_Kv1.4 pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 49 0 0.00 7 10 58.82 - - - KIAA0226 0 genome.wustl.edu 37 3 197402332 197402332 + Missense_Mutation SNP T T C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 197402332 197402332 T C SNP KIAA0226 ENST00000296343 human ensembl 69_37n -1 known missense c.2701 p.I901V 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 194 0 0.00 186 53 22.18 - - - KIAA0430 0 genome.wustl.edu 37 16 15702342 15702342 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 16 15702342 15702342 G C SNP KIAA0430 ENST00000396368 human ensembl 69_37n -1 known missense c.3988 p.L1330V 0.817 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 225 0 0.00 193 96 33.22 - - - KIAA1984-AS1 0 genome.wustl.edu 37 9 139701383 139701383 + RNA SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 9 139701383 139701383 C T SNP KIAA1984-AS1 ENST00000414656 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors KIAA1984-AS1 HGNC ENSG00000228544 38 0 0.00 20 11 35.48 - - - KLHL1 0 genome.wustl.edu 37 13 70456605 70456605 + Missense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 13 70456605 70456605 C T SNP KLHL1 ENST00000377844 human ensembl 69_37n -1 known missense c.1037 p.R346K 1.000 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 290 0 0.00 309 85 21.57 - - - KRT121P 0 genome.wustl.edu 37 12 52649868 52649868 + RNA SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 12 52649868 52649868 G A SNP KRT121P ENST00000529785 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors KRT121P HGNC ENSG00000135477 207 0 0.00 56 82 59.42 - - - LINGO2 0 genome.wustl.edu 37 9 27950483 27950483 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 9 27950483 27950483 C G SNP LINGO2 ENST00000308675 human ensembl 69_37n -1 known missense c.187 p.D63H 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO2 HGNC ENSG00000174482 314 0 0.00 246 119 32.60 - - - LMNB2 0 genome.wustl.edu 37 19 2431811 2431811 + Silent SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 19 2431811 2431811 G A SNP LMNB2 ENST00000325327 human ensembl 69_37n -1 known silent c.1680 p.F560 0.999 pfam_Lamin_tail_dom pfam_F,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 54 0 0.00 13 17 56.67 - - - LPPR1 0 genome.wustl.edu 37 9 104032342 104032342 + Missense_Mutation SNP A A C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 9 104032342 104032342 A C SNP LPPR1 ENST00000374871 human ensembl 69_37n +1 known missense c.244 p.T82P 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors RP11-35N6.1 Clone_based_vega_gene ENSG00000148123 133 0 0.00 35 90 72.00 - - - LRP2 0 genome.wustl.edu 37 2 170027091 170027091 + Missense_Mutation SNP A A G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 170027091 170027091 A G SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known missense c.11350 p.C3784R 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,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 226 0 0.00 172 74 30.08 - - - LRRC31 0 genome.wustl.edu 37 3 169565908 169565908 + Nonsense_Mutation SNP C C A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 169565908 169565908 C A SNP LRRC31 ENST00000523069 human ensembl 69_37n -1 putative nonsense c.1327 p.E443* 0.992 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 88 0 0.00 87 32 26.89 - - - LTK 0 genome.wustl.edu 37 15 41800394 41800394 + Missense_Mutation SNP C C A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 15 41800394 41800394 C A SNP LTK ENST00000263800 human ensembl 69_37n -1 known missense c.1122 p.E374D 0.961 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 229 0 0.00 149 85 36.32 - - - LZTS2 0 genome.wustl.edu 37 10 102762473 102762473 + Missense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 10 102762473 102762473 G A SNP LZTS2 ENST00000370220 human ensembl 69_37n +1 known missense c.178 p.D60N 1.000 NULL pfam_Fez1 - no_errors LZTS2 HGNC ENSG00000107816 29 0 0.00 14 6 30.00 - - - MAB21L1 0 genome.wustl.edu 37 13 36049917 36049917 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 13 36049917 36049917 G C SNP MAB21L1 ENST00000379919 human ensembl 69_37n -1 known missense c.359 p.S120C 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 85 0 0.00 44 22 33.33 - - - MAP2 0 genome.wustl.edu 37 2 210574870 210574870 + Silent SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 210574870 210574870 G A SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known silent c.4965 p.A1655 0.085 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 342 1 0.29 180 110 37.93 - - - MB21D2 0 genome.wustl.edu 37 3 192516720 192516720 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 192516720 192516720 G C SNP MB21D2 ENST00000392452 human ensembl 69_37n -1 known missense c.931 p.Q311E 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 49 0 0.00 34 16 31.37 - - - MCM10 0 genome.wustl.edu 37 10 13251286 13251286 + Silent SNP T T A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 10 13251286 13251286 T A SNP MCM10 ENST00000361282 human ensembl 69_37n +1 known silent c.2604 p.A868 0.983 pfam_Rep_factor_Mcm10 pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 411 0 0.00 582 78 11.82 - - - METAP1D 0 genome.wustl.edu 37 2 172944897 172944897 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 172944897 172944897 G C SNP METAP1D ENST00000315796 human ensembl 69_37n +1 known missense c.892 p.E298Q 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1D HGNC ENSG00000172878 571 1 0.17 405 192 32.16 - - - MFGE8 0 genome.wustl.edu 37 15 89450546 89450546 + Silent SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 15 89450546 89450546 C G SNP MFGE8 ENST00000268150 human ensembl 69_37n -1 known silent c.267 p.S89 0.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,smart_EGF-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors MFGE8 HGNC ENSG00000140545 56 0 0.00 54 32 31.07 - - - MIS18BP1 0 genome.wustl.edu 37 14 45716464 45716464 + Nonsense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 14 45716464 45716464 G C SNP MIS18BP1 ENST00000310806 human ensembl 69_37n -1 known nonsense c.26 p.S9* 0.985 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 134 0 0.00 57 68 54.40 - - - MKL2 0 genome.wustl.edu 37 16 14334339 14334339 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 16 14334339 14334339 C G SNP MKL2 ENST00000341243 human ensembl 69_37n +1 known missense c.1044 p.F348L 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC ENSG00000186260 164 0 0.00 104 58 35.58 - - - MRPS22 0 genome.wustl.edu 37 3 139074558 139074558 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 139074558 139074558 C G SNP MRPS22 ENST00000310776 human ensembl 69_37n +1 known missense c.913 p.H305D 1.000 pfam_Ribosomal_S22_mit pfam_Ribosomal_S22_mit - no_errors MRPS22 HGNC ENSG00000175110 268 0 0.00 241 145 37.56 - - - MSH3 0 genome.wustl.edu 37 5 80071554 80071554 + Silent SNP A A T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 5 80071554 80071554 A T SNP MSH3 ENST00000265081 human ensembl 69_37n +1 known silent c.2295 p.P765 0.994 pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 388 1 0.26 176 180 50.42 - - - MTRF1 0 genome.wustl.edu 37 13 41834948 41834948 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 13 41834948 41834948 C G SNP MTRF1 ENST00000430347 human ensembl 69_37n -1 known missense c.135 p.Q45H 0.074 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC ENSG00000120662 225 0 0.00 170 107 38.63 - - - MTUS2 0 genome.wustl.edu 37 13 29600959 29600959 + Silent SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 13 29600959 29600959 C G SNP MTUS2 ENST00000431530 human ensembl 69_37n +1 known silent c.2154 p.V718 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 174 0 0.00 168 41 19.43 - - - MUC13 0 genome.wustl.edu 37 3 124632415 124632415 + Missense_Mutation SNP A A C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 124632415 124632415 A C SNP MUC13 ENST00000311075 human ensembl 69_37n -1 known missense c.1075 p.C359G 0.129 superfamily_Growth_fac_rcpt,smart_EGF-like pfam_SEA,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom - no_errors MUC13 HGNC ENSG00000173702 155 0 0.00 120 64 34.78 - - - MYO1A 0 genome.wustl.edu 37 12 57423998 57423998 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 12 57423998 57423998 G C SNP MYO1A ENST00000300119 human ensembl 69_37n -1 known missense c.2587 p.Q863E 0.999 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1A HGNC ENSG00000166866 191 0 0.00 50 51 50.50 - - - NALCN 0 genome.wustl.edu 37 13 101748002 101748002 + Missense_Mutation SNP A A T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 13 101748002 101748002 A T SNP NALCN ENST00000251127 human ensembl 69_37n -1 known missense c.3192 p.N1064K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 295 0 0.00 225 249 52.53 - - - NDUFB9 0 genome.wustl.edu 37 8 125551447 125551447 + Missense_Mutation SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 8 125551447 125551447 G T SNP NDUFB9 ENST00000276689 human ensembl 69_37n +1 known missense c.20 p.G7V 0.000 NULL pfam_Complex1_LYR - no_errors NDUFB9 HGNC ENSG00000147684 32 0 0.00 52 13 20.00 - - - NEO1 0 genome.wustl.edu 37 15 73593721 73593721 + Missense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 15 73593721 73593721 C T SNP NEO1 ENST00000261908 human ensembl 69_37n +1 known missense c.4225 p.R1409W 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NEO1 HGNC ENSG00000067141 213 0 0.00 102 53 34.19 - - - NOTCH1 0 genome.wustl.edu 37 9 139390731 139390731 + Missense_Mutation SNP T T A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 9 139390731 139390731 T A SNP NOTCH1 ENST00000277541 human ensembl 69_37n -1 known missense c.7460 p.Q2487L 1.000 pirsf_Notch,pfam_DUF3454_notch pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_1,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 86 0 0.00 7 44 86.27 - - - NOTCH2 0 genome.wustl.edu 37 1 120465372 120465372 + Missense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 120465372 120465372 C T SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known missense c.4889 p.R1630H 1.000 pirsf_Notch,pfam_Notch_NODP_dom 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 283 0 0.00 156 83 34.58 - - - NPY2R 0 genome.wustl.edu 37 4 156135095 156135095 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 4 156135095 156135095 G C SNP NPY2R ENST00000329476 human ensembl 69_37n +1 known missense c.4 p.G2R 1.000 prints_NPY2_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_NPY2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors NPY2R HGNC ENSG00000185149 317 0 0.00 222 217 49.43 - - - NSD1 0 genome.wustl.edu 37 5 176721686 176721686 + Silent SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 5 176721686 176721686 G A SNP NSD1 ENST00000439151 human ensembl 69_37n +1 known silent c.7317 p.L2439 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 93 0 0.00 42 41 49.40 - - - NT5DC2 0 genome.wustl.edu 37 3 52563265 52563265 + Missense_Mutation SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 52563265 52563265 G T SNP NT5DC2 ENST00000489316 human ensembl 69_37n -1 novel missense c.112 p.L38I 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NT5DC2 HGNC ENSG00000168268 548 0 0.00 303 41 11.85 - - - NYNRIN 0 genome.wustl.edu 37 14 24880591 24880591 + Silent SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 14 24880591 24880591 C G SNP NYNRIN ENST00000382554 human ensembl 69_37n +1 known silent c.2577 p.L859 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 376 0 0.00 86 121 58.17 - - - OR13C4 0 genome.wustl.edu 37 9 107288610 107288610 + Missense_Mutation SNP A A T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 9 107288610 107288610 A T SNP OR13C4 ENST00000277216 human ensembl 69_37n -1 known missense c.881 p.I294K 1.000 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR13C4 HGNC ENSG00000148136 131 0 0.00 101 63 38.41 - - - PARP3 0 genome.wustl.edu 37 3 51978147 51978147 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 51978147 51978147 G C SNP PARP3 ENST00000398755 human ensembl 69_37n +1 known missense c.247 p.E83Q 0.528 pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 180 1 0.55 36 80 68.38 - - - PARP8 0 genome.wustl.edu 37 5 50128622 50128622 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 5 50128622 50128622 C G SNP PARP8 ENST00000281631 human ensembl 69_37n +1 known missense c.2241 p.N747K 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 319 0 0.00 174 129 42.02 - - - PDE3A 0 genome.wustl.edu 37 12 20799535 20799535 + Missense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 12 20799535 20799535 C T SNP PDE3A ENST00000359062 human ensembl 69_37n +1 known missense c.2363 p.S788L 1.000 smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 320 0 0.00 471 178 27.43 - - - PHF12 0 genome.wustl.edu 37 17 27240940 27240940 + Missense_Mutation SNP A A G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 17 27240940 27240940 A G SNP PHF12 ENST00000332830 human ensembl 69_37n -1 known missense c.1250 p.L417P 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 285 2 0.70 60 120 66.67 - - - PHKA2 0 genome.wustl.edu 37 X 18918818 18918818 + Splice_Site SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c X 18918818 18918818 C G SNP PHKA2 ENST00000379942 human ensembl 69_37n -1 known splice_site c.3028-1 e28-1 1.000 - - - no_errors PHKA2 HGNC ENSG00000044446 568 0 0.00 293 60 17.00 - - - PLA2R1 0 genome.wustl.edu 37 2 160840563 160840563 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 160840563 160840563 G C SNP PLA2R1 ENST00000283243 human ensembl 69_37n -1 known missense c.2059 p.L687V 0.518 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 116 0 0.00 82 63 43.45 - - - PLEKHA5 0 genome.wustl.edu 37 12 19500091 19500091 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 12 19500091 19500091 G C SNP PLEKHA5 ENST00000317589 human ensembl 69_37n +1 known missense c.2564 p.G855A 1.000 NULL pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA5 HGNC ENSG00000052126 273 0 0.00 252 92 26.74 - - - PPP1R36 0 genome.wustl.edu 37 14 65053580 65053580 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 14 65053580 65053580 G C SNP PPP1R36 ENST00000298705 human ensembl 69_37n +1 known missense c.694 p.D232H 1.000 NULL NULL - no_errors PPP1R36 HGNC ENSG00000165807 537 0 0.00 220 270 54.88 - - - PPP2R5B 0 genome.wustl.edu 37 11 64699231 64699231 + Missense_Mutation SNP T T C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 11 64699231 64699231 T C SNP PPP2R5B ENST00000164133 human ensembl 69_37n +1 known missense c.1007 p.L336P 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 178 0 0.00 128 70 35.35 - - - PPP2R5B 0 genome.wustl.edu 37 11 64699232 64699232 + Silent SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 11 64699232 64699232 G T SNP PPP2R5B ENST00000164133 human ensembl 69_37n +1 known silent c.1008 p.L336 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 180 0 0.00 127 70 35.35 - - - PPP4R2 0 genome.wustl.edu 37 3 73114577 73114577 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 73114577 73114577 C G SNP PPP4R2 ENST00000356692 human ensembl 69_37n +1 known missense c.958 p.P320A 0.967 NULL pfam_PPP4R2 - no_errors PPP4R2 HGNC ENSG00000163605 36 0 0.00 9 37 78.72 - - - PRKAA1 0 genome.wustl.edu 37 5 40767578 40767578 + Missense_Mutation SNP T T G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 5 40767578 40767578 T G SNP PRKAA1 ENST00000354209 human ensembl 69_37n -1 known missense c.856 p.K286Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKAA1 HGNC ENSG00000132356 263 0 0.00 165 126 43.30 - - - PTPRF 0 genome.wustl.edu 37 1 44084968 44084968 + Nonsense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 44084968 44084968 G A SNP PTPRF ENST00000429895 human ensembl 69_37n +1 novel nonsense c.3593 p.W1198* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PTPRF HGNC ENSG00000142949 26 0 0.00 8 9 52.94 - - - R3HCC1L 0 genome.wustl.edu 37 10 99994243 99994243 + Missense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 10 99994243 99994243 G A SNP R3HCC1L ENST00000298999 human ensembl 69_37n +1 known missense c.2002 p.A668T 1.000 NULL NULL - no_errors R3HCC1L HGNC ENSG00000166024 511 0 0.00 417 103 19.77 - - - RECQL 0 genome.wustl.edu 37 12 21624426 21624426 + Missense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 12 21624426 21624426 G A SNP RECQL ENST00000421138 human ensembl 69_37n -1 known missense c.1603 p.P535S 0.999 pfam_RQC_domain,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 240 1 0.41 289 119 29.10 - - - RGS3 0 genome.wustl.edu 37 9 116241773 116241773 + Nonsense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 9 116241773 116241773 C T SNP RGS3 ENST00000350696 human ensembl 69_37n +1 known nonsense c.418 p.Q140* 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC ENSG00000138835 595 0 0.00 327 187 36.38 - - - RPL35 0 genome.wustl.edu 37 9 127620332 127620332 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 9 127620332 127620332 C G SNP RPL35 ENST00000348462 human ensembl 69_37n -1 known missense c.237 p.K79N 1.000 NULL pfam_Ribosomal_L29,superfamily_Ribosomal_L29,tigrfam_Ribosomal_L29 - no_errors RPL35 HGNC ENSG00000136942 72 0 0.00 13 35 72.92 - - - SAMD4B 0 genome.wustl.edu 37 19 39847654 39847654 + Silent SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 19 39847654 39847654 C T SNP SAMD4B ENST00000314471 human ensembl 69_37n +1 known silent c.121 p.L41 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 101 0 0.00 43 25 36.76 - - - SCCPDH 0 genome.wustl.edu 37 1 246890259 246890259 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 246890259 246890259 G C SNP SCCPDH ENST00000366510 human ensembl 69_37n +1 known missense c.256 p.D86H 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn - no_errors SCCPDH HGNC ENSG00000143653 512 0 0.00 509 105 17.07 - - - SCN4A 0 genome.wustl.edu 37 17 62026013 62026013 + Silent SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 17 62026013 62026013 C T SNP SCN4A ENST00000435607 human ensembl 69_37n -1 known silent c.3102 p.E1034 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN4A HGNC ENSG00000007314 101 1 0.98 26 38 59.38 - - - SCUBE1 0 genome.wustl.edu 37 22 43634854 43634854 + Missense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 22 43634854 43634854 C T SNP SCUBE1 ENST00000449304 human ensembl 69_37n -1 known missense c.394 p.D132N 1.000 smart_EGF-like,smart_EGF-like_Ca-bd pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SCUBE1 HGNC ENSG00000159307 61 0 0.00 29 20 40.82 - - - SEC62 0 genome.wustl.edu 37 3 169684617 169684617 + Missense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 169684617 169684617 G A SNP SEC62 ENST00000337002 human ensembl 69_37n +1 known missense c.7 p.E3K 1.000 NULL pfam_Sec62,superfamily_ABC_transptrTM_dom_typ1 - no_errors SEC62 HGNC ENSG00000008952 56 0 0.00 35 12 25.53 - - - SEL1L2 0 genome.wustl.edu 37 20 13894543 13894543 + Missense_Mutation SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 20 13894543 13894543 G T SNP SEL1L2 ENST00000284951 human ensembl 69_37n -1 known missense c.434 p.A145D 1.000 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 256 2 0.78 108 128 54.24 - - - SGMS1 0 genome.wustl.edu 37 10 52103557 52103557 + Silent SNP C C A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 10 52103557 52103557 C A SNP SGMS1 ENST00000361781 human ensembl 69_37n -1 known silent c.318 p.G106 0.992 NULL pfam_P_Acid_Pase_2/haloperoxidase,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_P_Acid_Pase_2/haloperoxidase,pfscan_SAM - no_errors SGMS1 HGNC ENSG00000198964 305 0 0.00 268 55 17.03 - - - SKIV2L2 0 genome.wustl.edu 37 5 54696232 54696232 + Missense_Mutation SNP T T C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 5 54696232 54696232 T C SNP SKIV2L2 ENST00000230640 human ensembl 69_37n +1 known missense c.2464 p.C822R 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 SKIV2L2 HGNC ENSG00000039123 132 0 0.00 46 81 63.78 - - - SLAMF6 0 genome.wustl.edu 37 1 160461134 160461134 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 160461134 160461134 G C SNP SLAMF6 ENST00000368057 human ensembl 69_37n -1 known missense c.427 p.Q143E 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors SLAMF6 HGNC ENSG00000162739 218 0 0.00 509 63 11.01 - - - SLC15A1 0 genome.wustl.edu 37 13 99376256 99376256 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 13 99376256 99376256 G C SNP SLC15A1 ENST00000376503 human ensembl 69_37n -1 known missense c.275 p.T92R 1.000 pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_Pep_H_symport pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_Pep_H_symport - no_errors SLC15A1 HGNC ENSG00000088386 536 2 0.37 426 170 28.52 - - - SLC9A2 0 genome.wustl.edu 37 2 103274408 103274408 + Silent SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 103274408 103274408 C G SNP SLC9A2 ENST00000233969 human ensembl 69_37n +1 known silent c.675 p.V225 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 310 0 0.00 207 120 36.70 - - - SON 0 genome.wustl.edu 37 21 34927217 34927217 + Missense_Mutation SNP T T C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 21 34927217 34927217 T C SNP SON ENST00000356577 human ensembl 69_37n +1 known missense c.5680 p.S1894P 0.994 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd - no_errors SON HGNC ENSG00000159140 113 0 0.00 77 35 31.25 - - - SSX2IP 0 genome.wustl.edu 37 1 85130215 85130215 + Silent SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 85130215 85130215 G A SNP SSX2IP ENST00000342203 human ensembl 69_37n -1 known silent c.558 p.I186 0.982 pfam_Afadin/alpha-actinin-bd pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC ENSG00000117155 502 3 0.59 205 206 50.12 - - - SSX4 0 genome.wustl.edu 37 X 48244061 48244061 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c X 48244061 48244061 C G SNP SSX4 ENST00000376886 human ensembl 69_37n +1 known missense c.128 p.S43W 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX4 HGNC ENSG00000204645 83 0 0.00 46 10 17.86 - - - SSX4B 0 genome.wustl.edu 37 X 48270249 48270249 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c X 48270249 48270249 G C SNP SSX4B ENST00000376884 human ensembl 69_37n -1 known missense c.128 p.S43W 0.001 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX4B HGNC ENSG00000198946 686 2 0.29 383 132 25.63 - - - STAMBPL1 0 genome.wustl.edu 37 10 90661472 90661472 + Missense_Mutation SNP C C A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 10 90661472 90661472 C A SNP STAMBPL1 ENST00000371927 human ensembl 69_37n +1 known missense c.7 p.Q3K 0.986 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors STAMBPL1 HGNC ENSG00000138134 481 2 0.41 242 182 42.92 - - - STK10 0 genome.wustl.edu 37 5 171533651 171533651 + Missense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 5 171533651 171533651 G A SNP STK10 ENST00000176763 human ensembl 69_37n -1 known missense c.761 p.P254L 0.995 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_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK10 HGNC ENSG00000072786 219 0 0.00 42 52 55.32 - - - STMN4 0 genome.wustl.edu 37 8 27099197 27099197 + Nonsense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 8 27099197 27099197 G A SNP STMN4 ENST00000350889 human ensembl 69_37n -1 known nonsense c.187 p.Q63* 0.994 pirsf_Stathmin pfam_Stathmin,superfamily_Stathmin,pirsf_Stathmin,prints_Stathmin - no_errors STMN4 HGNC ENSG00000015592 236 0 0.00 54 53 49.53 - - - STON2 0 genome.wustl.edu 37 14 81862331 81862331 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 14 81862331 81862331 C G SNP STON2 ENST00000267540 human ensembl 69_37n -1 known missense c.280 p.D94H 1.000 pfam_Stonin2_N,pirsf_Stonin pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 144 0 0.00 31 68 68.69 - - - STRAP 0 genome.wustl.edu 37 12 16055855 16055855 + Missense_Mutation SNP A A T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 12 16055855 16055855 A T SNP STRAP ENST00000025399 human ensembl 69_37n +1 known missense c.1035 p.E345D 0.992 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRAP HGNC ENSG00000023734 97 0 0.00 135 46 25.41 - - - SURF6 0 genome.wustl.edu 37 9 136200568 136200568 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 9 136200568 136200568 C G SNP SURF6 ENST00000372022 human ensembl 69_37n -1 known missense c.379 p.E127Q 1.000 NULL pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 47 0 0.00 17 11 39.29 - - - TFCP2L1 0 genome.wustl.edu 37 2 121981961 121981961 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 121981961 121981961 C G SNP TFCP2L1 ENST00000263707 human ensembl 69_37n -1 known missense c.1396 p.E466Q 0.998 NULL pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC ENSG00000115112 177 0 0.00 139 27 16.17 - - - TIPRL 0 genome.wustl.edu 37 1 168160639 168160639 + Silent SNP A A G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 1 168160639 168160639 A G SNP TIPRL ENST00000367833 human ensembl 69_37n +1 known silent c.417 p.E139 1.000 pfam_TIP41-like pfam_TIP41-like - no_errors TIPRL HGNC ENSG00000143155 90 0 0.00 176 30 14.56 - - - TMEM245 0 genome.wustl.edu 37 9 111853251 111853251 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 9 111853251 111853251 C G SNP TMEM245 ENST00000374586 human ensembl 69_37n -1 known missense c.1101 p.Q367H 1.000 NULL pfam_UPF0118 - no_errors TMEM245 HGNC ENSG00000106771 328 0 0.00 228 135 37.09 - - - TNXB 0 genome.wustl.edu 37 6 32023670 32023670 + Missense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 6 32023670 32023670 C T SNP TNXB ENST00000375247 human ensembl 69_37n -1 known missense c.8425 p.E2809K 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 33 0 0.00 13 19 59.38 - - - TP53 0 genome.wustl.edu 37 17 7579521 7579521 + Nonsense_Mutation SNP C C A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 17 7579521 7579521 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.166 p.E56* 0.074 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 145 0 0.00 29 47 61.84 - - - TRIM49B 0 genome.wustl.edu 37 11 49059214 49059214 + Silent SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 11 49059214 49059214 G T SNP TRIM49B ENST00000332682 human ensembl 69_37n +1 known silent c.1044 p.G348 0.020 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49B HGNC ENSG00000182053 213 0 0.00 231 132 36.36 - - - TRIP4 0 genome.wustl.edu 37 15 64687614 64687614 + Missense_Mutation SNP A A G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 15 64687614 64687614 A G SNP TRIP4 ENST00000261884 human ensembl 69_37n +1 known missense c.289 p.K97E 0.026 NULL pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 128 1 0.78 113 83 42.35 - - - TSHR 0 genome.wustl.edu 37 14 81606112 81606112 + Missense_Mutation SNP A A T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 14 81606112 81606112 A T SNP TSHR ENST00000298171 human ensembl 69_37n +1 known missense c.782 p.K261M 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 248 0 0.00 127 99 43.81 - - - UBXN8 0 genome.wustl.edu 37 8 30614364 30614364 + RNA SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 8 30614364 30614364 C G SNP UBXN8 ENST00000265616 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors UBXN8 HGNC ENSG00000104691 278 0 0.00 110 111 50.00 - - - UGT2B10 0 genome.wustl.edu 37 4 69682121 69682121 + Missense_Mutation SNP T T A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 4 69682121 69682121 T A SNP UGT2B10 ENST00000265403 human ensembl 69_37n +1 known missense c.384 p.D128E 0.002 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B10 HGNC ENSG00000109181 287 0 0.00 125 178 58.75 - - - UMPS 0 genome.wustl.edu 37 3 124456915 124456915 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 3 124456915 124456915 G C SNP UMPS ENST00000232607 human ensembl 69_37n +1 known missense c.811 p.D271H 0.768 pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase pfam_OMPdeCOase_dom,pfam_PRibTrfase,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_clade-1 - no_errors UMPS HGNC ENSG00000114491 316 0 0.00 272 111 28.98 - - - UNC5C 0 genome.wustl.edu 37 4 96222841 96222841 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 4 96222841 96222841 C G SNP UNC5C ENST00000453304 human ensembl 69_37n -1 known missense c.406 p.G136R 1.000 NULL pfam_ZU5,pfam_Death,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5C HGNC ENSG00000182168 173 0 0.00 112 93 45.37 - - - USP11 0 genome.wustl.edu 37 X 47101698 47101698 + Missense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c X 47101698 47101698 C T SNP USP11 ENST00000218348 human ensembl 69_37n +1 known missense c.1526 p.P509L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC ENSG00000102226 140 0 0.00 34 51 60.00 - - - UTP20 0 genome.wustl.edu 37 12 101757468 101757468 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 12 101757468 101757468 G C SNP UTP20 ENST00000261637 human ensembl 69_37n +1 known missense c.5905 p.G1969R 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 384 0 0.00 195 70 26.32 - - - VPS13A 0 genome.wustl.edu 37 9 79954717 79954717 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 9 79954717 79954717 G C SNP VPS13A ENST00000360280 human ensembl 69_37n +1 known missense c.6664 p.G2222R 1.000 pfam_VPSAP pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 241 0 0.00 96 113 54.07 - - - VPS13B 0 genome.wustl.edu 37 8 100830977 100830977 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 8 100830977 100830977 C G SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known missense c.8557 p.L2853V 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 378 0 0.00 485 159 24.69 - - - XIRP2 0 genome.wustl.edu 37 2 168100303 168100303 + Missense_Mutation SNP G G A TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 2 168100303 168100303 G A SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.2401 p.V801I 0.005 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 165 0 0.00 137 59 30.10 - - - ZC3H7B 0 genome.wustl.edu 37 22 41752377 41752377 + Missense_Mutation SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 22 41752377 41752377 G C SNP ZC3H7B ENST00000351589 human ensembl 69_37n +1 known missense c.2414 p.W805S 1.000 NULL pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 145 0 0.00 105 14 11.67 - - - ZNF592 0 genome.wustl.edu 37 15 85327556 85327556 + Silent SNP G G T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 15 85327556 85327556 G T SNP ZNF592 ENST00000299927 human ensembl 69_37n +1 known silent c.1650 p.L550 0.067 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 82 0 0.00 50 25 33.33 - - - ZNF594 0 genome.wustl.edu 37 17 5087301 5087301 + Missense_Mutation SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6150dd25-a8f4-4d9f-9da0-f956855ab67d e968461c-7bb9-4db0-87c6-5e7c77c5042c 17 5087301 5087301 C G SNP ZNF594 ENST00000399604 human ensembl 69_37n -1 known missense c.251 p.G84A 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 278 0 0.00 116 139 54.51 - - -