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 ABR 0 genome.wustl.edu 37 17 1028559 1028559 + Frame_Shift_Del DEL C C - TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 17 1028559 1028559 C - DEL ABR ENST00000302538 human ensembl 69_37n -1 known frame_shift_del c.205 p.D69fs 1.000 superfamily_DH-domain pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 17 0 0.00 15 3 16.67 - - - ACAN 0 genome.wustl.edu 37 15 89388987 89388987 + Nonsense_Mutation SNP G G T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 15 89388987 89388987 G T SNP ACAN ENST00000439576 human ensembl 69_37n +1 known nonsense c.1303 p.E435* 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ENSG00000157766 13 0 0.00 13 10 43.48 - - - AGPAT6 0 genome.wustl.edu 37 8 41467297 41467297 + Missense_Mutation SNP G G A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 8 41467297 41467297 G A SNP AGPAT6 ENST00000396987 human ensembl 69_37n +1 known missense c.359 p.R120Q 1.000 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors AGPAT6 HGNC ENSG00000158669 45 0 0.00 7 8 53.33 - - - AHCTF1 0 genome.wustl.edu 37 1 247007193 247007193 + Missense_Mutation SNP T T G TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 1 247007193 247007193 T G SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known missense c.6456 p.L2152F 0.993 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 84 0 0.00 119 42 26.09 - - - ANO4 0 genome.wustl.edu 37 12 101490420 101490420 + Silent SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 12 101490420 101490420 C T SNP ANO4 ENST00000392977 human ensembl 69_37n +1 known silent c.1845 p.L615 0.269 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 44 0 0.00 35 8 18.60 - - - ATP2B4 0 genome.wustl.edu 37 1 203680228 203680228 + Missense_Mutation SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 1 203680228 203680228 C T SNP ATP2B4 ENST00000357681 human ensembl 69_37n +1 known missense c.2023 p.R675C 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC ENSG00000058668 27 0 0.00 75 11 12.79 - - - CASC4 0 genome.wustl.edu 37 15 44615184 44615184 + Missense_Mutation SNP T T A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 15 44615184 44615184 T A SNP CASC4 ENST00000299957 human ensembl 69_37n +1 known missense c.349 p.S117T 1.000 NULL NULL - no_errors CASC4 HGNC ENSG00000166734 55 0 0.00 24 13 35.14 - - - CATSPER2 0 genome.wustl.edu 37 15 43927354 43927354 + Splice_Site DEL T T - TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 15 43927354 43927354 T - DEL CATSPER2 ENST00000419262 human ensembl 69_37n -1 known splice_site_del c.34-2 e2-2 0.002 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CATSPER2 HGNC ENSG00000166762 13 0 0.00 13 2 13.33 - - - CEP112 0 genome.wustl.edu 37 17 63898300 63898300 + Silent SNP T T C TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 17 63898300 63898300 T C SNP CEP112 ENST00000392769 human ensembl 69_37n -1 known silent c.2133 p.Q711 1.000 superfamily_t-SNARE superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 103 0 0.00 85 39 31.45 - - - EXT2 0 genome.wustl.edu 37 11 44219400 44219400 + Missense_Mutation SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 11 44219400 44219400 C T SNP EXT2 ENST00000395673 human ensembl 69_37n +1 known missense c.1426 p.P476S 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT2 HGNC ENSG00000151348 28 0 0.00 16 18 52.94 - - - GATA3 0 genome.wustl.edu 37 10 8115941 8115942 + Frame_Shift_Ins INS - - T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 10 8115941 8115942 - T INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1290_1291 p.G431fs 1.000:1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 24 0 0.00 26 11 29.73 - - - GSK3A 0 genome.wustl.edu 37 19 42738739 42738739 + Missense_Mutation SNP T T C TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 19 42738739 42738739 T C SNP GSK3A ENST00000222330 human ensembl 69_37n -1 known missense c.758 p.D253G 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors GSK3A HGNC ENSG00000105723 31 0 0.00 10 16 61.54 - - - HIST1H2AH 0 genome.wustl.edu 37 6 27115041 27115041 + Missense_Mutation SNP G G A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 6 27115041 27115041 G A SNP HIST1H2AH ENST00000377459 human ensembl 69_37n +1 known missense c.134 p.G45E 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AH HGNC ENSG00000184825 43 0 0.00 29 14 32.56 - - - IL7R 0 genome.wustl.edu 37 5 35874629 35874629 + Missense_Mutation SNP T T C TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 5 35874629 35874629 T C SNP IL7R ENST00000303115 human ensembl 69_37n +1 known missense c.785 p.V262A 0.142 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 82 0 0.00 68 50 42.37 - - - INO80D 0 genome.wustl.edu 37 2 206869432 206869432 + Missense_Mutation SNP G G T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 2 206869432 206869432 G T SNP INO80D ENST00000403263 human ensembl 69_37n -1 known missense c.2744 p.S915Y 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 70 0 0.00 64 27 29.67 - - - IQCA1 0 genome.wustl.edu 37 2 237240002 237240002 + Silent SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 2 237240002 237240002 C T SNP IQCA1 ENST00000409907 human ensembl 69_37n -1 known silent c.2373 p.K791 1.000 NULL pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 73 0 0.00 50 20 28.57 - - - ITGAL 0 genome.wustl.edu 37 16 30515580 30515580 + Silent SNP A A C TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 16 30515580 30515580 A C SNP ITGAL ENST00000356798 human ensembl 69_37n +1 known silent c.2230 p.R744 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAL HGNC ENSG00000005844 79 0 0.00 72 13 15.29 - - - JAK1 0 genome.wustl.edu 37 1 65335075 65335075 + Missense_Mutation SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 1 65335075 65335075 C T SNP JAK1 ENST00000342505 human ensembl 69_37n -1 known missense c.566 p.C189Y 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors JAK1 HGNC ENSG00000162434 59 0 0.00 26 23 46.94 - - - JMJD4 0 genome.wustl.edu 37 1 227921282 227921282 + Silent SNP G G A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 1 227921282 227921282 G A SNP JMJD4 ENST00000366758 human ensembl 69_37n -1 known silent c.793 p.L265 0.996 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD4 HGNC ENSG00000081692 8 0 0.00 49 13 20.97 - - - KCTD3 0 genome.wustl.edu 37 1 215768802 215768802 + Nonsense_Mutation SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 1 215768802 215768802 C T SNP KCTD3 ENST00000259154 human ensembl 69_37n +1 known nonsense c.922 p.Q308* 1.000 superfamily_WD40_repeat_dom pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 70 0 0.00 131 46 25.99 - - - MARC2 0 genome.wustl.edu 37 1 220953546 220953546 + Silent SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 1 220953546 220953546 C T SNP MARC2 ENST00000366913 human ensembl 69_37n +1 known silent c.849 p.V283 0.805 pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom pfam_MOSC_N,pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom - no_errors MARC2 HGNC ENSG00000117791 51 0 0.00 125 18 12.59 - - - MASP1 0 genome.wustl.edu 37 3 186953750 186953750 + Missense_Mutation SNP G G A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 3 186953750 186953750 G A SNP MASP1 ENST00000296280 human ensembl 69_37n -1 known missense c.1909 p.R637C 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6 - no_errors MASP1 HGNC ENSG00000127241 28 0 0.00 24 14 36.84 - - - MKRN3 0 genome.wustl.edu 37 15 23811660 23811660 + Missense_Mutation SNP G G A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 15 23811660 23811660 G A SNP MKRN3 ENST00000314520 human ensembl 69_37n +1 known missense c.731 p.C244Y 1.000 smart_Znf_CCCH pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 66 0 0.00 29 16 34.78 - - - MUC5B 0 genome.wustl.edu 37 11 1266479 1266479 + Missense_Mutation SNP G G T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 11 1266479 1266479 G T SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.8378 p.G2793V 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 14 0 0.00 34 10 22.73 - - - MYH8 0 genome.wustl.edu 37 17 10298758 10298758 + Missense_Mutation SNP C C G TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 17 10298758 10298758 C G SNP MYH8 ENST00000403437 human ensembl 69_37n -1 known missense c.4654 p.A1552P 1.000 pfam_Myosin_tail,superfamily_t-SNARE pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 53 0 0.00 20 16 44.44 - - - NFATC4 0 genome.wustl.edu 37 14 24836347 24836347 + Silent SNP A A C TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 14 24836347 24836347 A C SNP NFATC4 ENST00000413692 human ensembl 69_37n +1 known silent c.87 p.S29 0.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 50 0 0.00 55 17 23.61 - - - NRP1 0 genome.wustl.edu 37 10 33469188 33469188 + Missense_Mutation SNP G G A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 10 33469188 33469188 G A SNP NRP1 ENST00000265371 human ensembl 69_37n -1 known missense c.2588 p.A863V 1.000 pirsf_Neuropilin,pfam_Neuropilin1_C pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 77 0 0.00 54 24 30.77 - - - OR2AG1 0 genome.wustl.edu 37 11 6806874 6806874 + Missense_Mutation SNP G G A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 11 6806874 6806874 G A SNP OR2AG1 ENST00000307401 human ensembl 69_37n +1 known missense c.606 p.M202I 0.722 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2AG1 HGNC ENSG00000170803 96 0 0.00 95 39 29.10 - - - PEX1 0 genome.wustl.edu 37 7 92119083 92119083 + Missense_Mutation SNP T T C TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 7 92119083 92119083 T C SNP PEX1 ENST00000248633 human ensembl 69_37n -1 known missense c.3581 p.D1194G 0.993 NULL pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 100 0 0.00 73 25 25.51 - - - PHLPP1 0 genome.wustl.edu 37 18 60563042 60563042 + Missense_Mutation SNP T T G TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 18 60563042 60563042 T G SNP PHLPP1 ENST00000262719 human ensembl 69_37n +1 known missense c.2242 p.F748V 0.998 smart_Leu-rich_rpt_typical-subtyp pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 74 0 0.00 48 25 34.25 - - - PHRF1 0 genome.wustl.edu 37 11 605238 605238 + Silent SNP G G A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 11 605238 605238 G A SNP PHRF1 ENST00000264555 human ensembl 69_37n +1 known silent c.1272 p.A424 0.962 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 26 0 0.00 31 27 46.55 - - - PJA2 0 genome.wustl.edu 37 5 108714080 108714080 + Missense_Mutation SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 5 108714080 108714080 C T SNP PJA2 ENST00000361189 human ensembl 69_37n -1 known missense c.1108 p.E370K 0.984 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 96 0 0.00 61 24 28.24 - - - PRKCB 0 genome.wustl.edu 37 16 24135281 24135281 + Silent SNP G G A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 16 24135281 24135281 G A SNP PRKCB ENST00000303531 human ensembl 69_37n +1 known silent c.1044 p.L348 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors PRKCB HGNC ENSG00000166501 52 0 0.00 27 19 41.30 - - - PRSS3 0 genome.wustl.edu 37 9 33797959 33797959 + Missense_Mutation SNP C C G TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 9 33797959 33797959 C G SNP PRSS3 ENST00000361005 human ensembl 69_37n +1 known missense c.504 p.I168M 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 76 0 0.00 43 27 38.57 - - - PVRL4 0 genome.wustl.edu 37 1 161059016 161059016 + Missense_Mutation SNP G G A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 1 161059016 161059016 G A SNP PVRL4 ENST00000368012 human ensembl 69_37n -1 known missense c.71 p.S24L 0.554 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PVRL4 HGNC ENSG00000143217 11 0 0.00 43 39 47.56 - - - RGS3 0 genome.wustl.edu 37 9 116224016 116224016 + Missense_Mutation SNP A A G TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 9 116224016 116224016 A G SNP RGS3 ENST00000350696 human ensembl 69_37n +1 known missense c.110 p.N37S 0.000 NULL 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 44 0 0.00 17 20 54.05 - - - RNF145 0 genome.wustl.edu 37 5 158630630 158630630 + Frame_Shift_Del DEL T T - TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 5 158630630 158630630 T - DEL RNF145 ENST00000274542 human ensembl 69_37n -1 known frame_shift_del c.80 p.N27fs 0.002 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 34 0 0.00 17 2 10.53 - - - RP1 0 genome.wustl.edu 37 8 55540310 55540310 + Nonsense_Mutation SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 8 55540310 55540310 C T SNP RP1 ENST00000220676 human ensembl 69_37n +1 known nonsense c.3868 p.Q1290* 0.962 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 33 0 0.00 24 4 14.29 - - - RPTOR 0 genome.wustl.edu 37 17 78704422 78704422 + Silent SNP G G T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 17 78704422 78704422 G T SNP RPTOR ENST00000306801 human ensembl 69_37n +1 known silent c.570 p.S190 0.962 prints_Raptor pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 37 0 0.00 38 12 24.00 - - - SALL1 0 genome.wustl.edu 37 16 51175500 51175500 + Silent SNP G G T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 16 51175500 51175500 G T SNP SALL1 ENST00000251020 human ensembl 69_37n -1 known silent c.633 p.S211 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 22 0 0.00 10 14 58.33 - - - SDC2 0 genome.wustl.edu 37 8 97605791 97605791 + Missense_Mutation SNP C C A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 8 97605791 97605791 C A SNP SDC2 ENST00000302190 human ensembl 69_37n +1 known missense c.144 p.D48E 0.402 pfam_Syndecan pfam_Syndecan,smart_Neurexin-like - no_errors SDC2 HGNC ENSG00000169439 35 0 0.00 37 16 30.19 - - - SDHAP1 0 genome.wustl.edu 37 3 195702639 195702639 + RNA SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 3 195702639 195702639 C T SNP SDHAP1 ENST00000427841 human ensembl 69_37n -1 known rna NULL NULL 0.965 - - - no_errors SDHAP1 HGNC ENSG00000185485 11 0 0.00 12 6 33.33 - - - SIGLEC1 0 genome.wustl.edu 37 20 3682202 3682202 + Missense_Mutation SNP G G T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 20 3682202 3682202 G T SNP SIGLEC1 ENST00000344754 human ensembl 69_37n -1 known missense c.1315 p.P439T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC ENSG00000088827 30 0 0.00 15 6 28.57 - - - SLC35B3 0 genome.wustl.edu 37 6 8417217 8417217 + Silent SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 6 8417217 8417217 C T SNP SLC35B3 ENST00000379660 human ensembl 69_37n -1 known silent c.885 p.R295 1.000 pfam_UAA pfam_UAA - no_errors SLC35B3 HGNC ENSG00000124786 43 0 0.00 29 4 12.12 - - - STAT3 0 genome.wustl.edu 37 17 40497585 40497585 + Missense_Mutation SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 17 40497585 40497585 C T SNP STAT3 ENST00000264657 human ensembl 69_37n -1 known missense c.364 p.A122T 0.992 superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 43 0 0.00 64 15 18.99 - - - STXBP5L 0 genome.wustl.edu 37 3 121137241 121137241 + Missense_Mutation SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 3 121137241 121137241 C T SNP STXBP5L ENST00000273666 human ensembl 69_37n +1 known missense c.3356 p.P1119L 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin - no_errors STXBP5L HGNC ENSG00000145087 47 0 0.00 22 8 26.67 - - - TAF13 0 genome.wustl.edu 37 1 109617632 109617632 + Missense_Mutation SNP C C A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 1 109617632 109617632 C A SNP TAF13 ENST00000338366 human ensembl 69_37n -1 known missense c.83 p.R28I 1.000 NULL pfam_TFIID-18,superfamily_Histone-fold - no_errors TAF13 HGNC ENSG00000197780 157 0 0.00 37 37 50.00 - - - TEP1 0 genome.wustl.edu 37 14 20876196 20876196 + Missense_Mutation SNP G G C TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 14 20876196 20876196 G C SNP TEP1 ENST00000262715 human ensembl 69_37n -1 known missense c.403 p.H135D 0.000 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 45 0 0.00 29 17 36.96 - - - TMEM131 0 genome.wustl.edu 37 2 98422132 98422132 + Missense_Mutation SNP T T C TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 2 98422132 98422132 T C SNP TMEM131 ENST00000186436 human ensembl 69_37n -1 known missense c.2090 p.N697S 1.000 pfam_DUF3651_TMEM131 pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 46 0 0.00 17 11 39.29 - - - TPRKB 0 genome.wustl.edu 37 2 73957812 73957812 + Missense_Mutation SNP G G C TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 2 73957812 73957812 G C SNP TPRKB ENST00000272424 human ensembl 69_37n -1 known missense c.316 p.L106V 1.000 pfam_Kinase-bd_CGI-121 pfam_Kinase-bd_CGI-121 - no_errors TPRKB HGNC ENSG00000144034 83 0 0.00 21 23 52.27 - - - TXLNB 0 genome.wustl.edu 37 6 139576544 139576544 + Missense_Mutation SNP G G A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 6 139576544 139576544 G A SNP TXLNB ENST00000367652 human ensembl 69_37n -1 known missense c.371 p.S124L 0.526 NULL pfam_Taxilin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TXLNB HGNC ENSG00000164440 12 0 0.00 3 10 76.92 - - - UBR4 0 genome.wustl.edu 37 1 19439335 19439335 + Silent SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 1 19439335 19439335 C T SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known silent c.11484 p.L3828 0.998 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 36 0 0.00 41 19 31.67 - - - UNC80 0 genome.wustl.edu 37 2 210841715 210841715 + Missense_Mutation SNP A A G TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 2 210841715 210841715 A G SNP UNC80 ENST00000439458 human ensembl 69_37n +1 known missense c.8653 p.I2885V 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 29 0 0.00 16 9 36.00 - - - WWC1 0 genome.wustl.edu 37 5 167798457 167798457 + Missense_Mutation SNP T T A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 5 167798457 167798457 T A SNP WWC1 ENST00000265293 human ensembl 69_37n +1 known missense c.148 p.C50S 1.000 superfamily_WW_Rsp5_WWP pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC1 HGNC ENSG00000113645 53 0 0.00 59 11 15.71 - - - ZNF330 0 genome.wustl.edu 37 4 142150807 142150807 + Missense_Mutation SNP C C A TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b3991854-6634-4428-bef7-a7d9ad9cca30 dbd03fe1-1392-455f-a634-69b59d0ef3aa 4 142150807 142150807 C A SNP ZNF330 ENST00000262990 human ensembl 69_37n +1 known missense c.374 p.T125N 0.998 pfam_NOA36 pfam_NOA36 - no_errors ZNF330 HGNC ENSG00000109445 95 0 0.00 58 37 38.95 - - -