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 ABCB1 0 genome.wustl.edu 37 7 87135240 87135240 + Silent SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 7 87135240 87135240 C T SNP ABCB1 ENST00000265724 human ensembl 69_37n -1 known silent c.3609 p.T1203 0.799 pfam_ABC_transporter-like,pfam_ABC_ATPase_put,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 85 0 0.00 108 23 17.56 - - - ABCF1 0 genome.wustl.edu 37 6 30558385 30558385 + Missense_Mutation SNP G G C TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 6 30558385 30558385 G C SNP ABCF1 ENST00000326195 human ensembl 69_37n +1 known missense c.2445 p.Q815H 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 440 0 0.00 578 91 13.60 - - - ADCY7 0 genome.wustl.edu 37 16 50324435 50324435 + Missense_Mutation SNP C C G TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 16 50324435 50324435 C G SNP ADCY7 ENST00000254235 human ensembl 69_37n +1 known missense c.239 p.S80C 0.985 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 12 0 0.00 21 6 22.22 - - - ALDH1L2 0 genome.wustl.edu 37 12 105456678 105456678 + Silent SNP G G A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 12 105456678 105456678 G A SNP ALDH1L2 ENST00000258494 human ensembl 69_37n -1 known silent c.909 p.N303 1.000 pfam_Formyl_trans_C,superfamily_Formyl_transferase_C-like,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 55 0 0.00 109 36 24.83 - - - ANK2 0 genome.wustl.edu 37 4 114238897 114238897 + Missense_Mutation SNP C C G TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 4 114238897 114238897 C G SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.2728 p.L910V 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 61 0 0.00 63 28 30.77 - - - ASPM 0 genome.wustl.edu 37 1 197111819 197111819 + Silent SNP G G T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 1 197111819 197111819 G T SNP ASPM ENST00000367409 human ensembl 69_37n -1 known silent c.1563 p.L521 0.805 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 209 1 0.47 234 124 34.54 - - - ATAD2 0 genome.wustl.edu 37 8 124340530 124340530 + Silent SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 8 124340530 124340530 C T SNP ATAD2 ENST00000287394 human ensembl 69_37n -1 known silent c.3768 p.R1256 0.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 93 0 0.00 191 73 27.65 - - - BTNL3 0 genome.wustl.edu 37 5 180420100 180420100 + Missense_Mutation SNP G G A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 5 180420100 180420100 G A SNP BTNL3 ENST00000342868 human ensembl 69_37n +1 known missense c.337 p.G113R 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTNL3 HGNC ENSG00000168903 41 0 0.00 31 30 49.18 - - - C1QL1 0 genome.wustl.edu 37 17 43045072 43045073 + Frame_Shift_Ins INS - - C TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 17 43045072 43045073 - C INS C1QL1 ENST00000253407 human ensembl 69_37n -1 known frame_shift_ins c.345_344 p.S116fs 0.846:0.834 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL1 HGNC ENSG00000131094 9 0 0.00 13 2 13.33 - - - C4orf40 0 genome.wustl.edu 37 4 71021774 71021774 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 4 71021774 71021774 C T SNP C4orf40 ENST00000344526 human ensembl 69_37n +1 known missense c.55 p.R19W 0.004 NULL NULL - no_errors C4orf40 HGNC ENSG00000187533 113 0 0.00 86 63 42.28 - - - CBWD5 0 genome.wustl.edu 37 9 70483224 70483224 + Missense_Mutation SNP C C A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 9 70483224 70483224 C A SNP CBWD5 ENST00000382405 human ensembl 69_37n -1 known missense c.394 p.D132Y 1.000 pfam_Cbl_biosynth_CobW-like pfam_Cbl_biosynth_CobW-like,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD5 HGNC ENSG00000147996 51 0 0.00 10 2 16.67 - - - CCDC40 0 genome.wustl.edu 37 17 78055837 78055837 + Missense_Mutation SNP C C A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 17 78055837 78055837 C A SNP CCDC40 ENST00000397545 human ensembl 69_37n +1 known missense c.1969 p.Q657K 0.997 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 21 0 0.00 37 14 27.45 - - - CDH2 0 genome.wustl.edu 37 18 25565518 25565518 + Missense_Mutation SNP C C G TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 18 25565518 25565518 C G SNP CDH2 ENST00000269141 human ensembl 69_37n -1 known missense c.1949 p.R650T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH2 HGNC ENSG00000170558 142 0 0.00 138 29 17.37 - - - CDH24 0 genome.wustl.edu 37 14 23523727 23523728 + Frame_Shift_Ins INS - - G TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 14 23523727 23523728 - G INS CDH24 ENST00000267383 human ensembl 69_37n -1 known frame_shift_ins c.772_771 p.K257fs 1.000:1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 47 0 0.00 27 4 12.90 - - - CDYL 0 genome.wustl.edu 37 6 4943943 4943943 + Missense_Mutation SNP G G A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 6 4943943 4943943 G A SNP CDYL ENST00000328908 human ensembl 69_37n +1 known missense c.1447 p.D483N 1.000 pfam_Crotonase_core pfam_Crotonase_core,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 88 0 0.00 16 60 78.95 - - - CEP19 0 genome.wustl.edu 37 3 196434580 196434580 + Nonsense_Mutation SNP C C A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 3 196434580 196434580 C A SNP CEP19 ENST00000409690 human ensembl 69_37n -1 known nonsense c.346 p.E116* 1.000 NULL NULL - no_errors CEP19 HGNC ENSG00000174007 110 0 0.00 72 72 49.66 - - - CLASP2 0 genome.wustl.edu 37 3 33644558 33644558 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 3 33644558 33644558 C T SNP CLASP2 ENST00000399362 human ensembl 69_37n -1 known missense c.1810 p.D604N 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 21 0 0.00 30 10 25.00 - - - CNGA3 0 genome.wustl.edu 37 2 99013495 99013495 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 2 99013495 99013495 C T SNP CNGA3 ENST00000272602 human ensembl 69_37n +1 known missense c.1862 p.A621V 0.088 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 40 0 0.00 41 8 16.33 - - - CYP2S1 0 genome.wustl.edu 37 19 41703775 41703775 + Silent SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 19 41703775 41703775 C T SNP CYP2S1 ENST00000310054 human ensembl 69_37n +1 known silent c.435 p.G145 0.090 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 180 0 0.00 206 24 10.43 - - - DNAH1 0 genome.wustl.edu 37 3 52433155 52433156 + Frame_Shift_Ins INS - - T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 3 52433155 52433156 - T INS DNAH1 ENST00000420323 human ensembl 69_37n +1 known frame_shift_ins c.12379_12380 p.T4127fs 0.995:0.989 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 149 0 0.00 114 119 51.07 - - - EFCAB5 0 genome.wustl.edu 37 17 28380797 28380797 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 17 28380797 28380797 C T SNP EFCAB5 ENST00000394835 human ensembl 69_37n +1 known missense c.1825 p.R609C 0.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB5 HGNC ENSG00000176927 475 0 0.00 635 271 29.85 - - - EXT1 0 genome.wustl.edu 37 8 119122505 119122505 + Missense_Mutation SNP T T C TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 8 119122505 119122505 T C SNP EXT1 ENST00000378204 human ensembl 69_37n -1 known missense c.781 p.K261E 1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 190 0 0.00 215 32 12.96 - - - FBN3 0 genome.wustl.edu 37 19 8196624 8196625 + Frame_Shift_Ins INS - - C TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 19 8196624 8196625 - C INS FBN3 ENST00000270509 human ensembl 69_37n -1 known frame_shift_ins c.1804_1803 p.L601fs 1.000:0.999 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 25 0 0.00 29 4 12.12 - - - FBXO22 0 genome.wustl.edu 37 15 76196845 76196845 + Missense_Mutation SNP T T C TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 15 76196845 76196845 T C SNP FBXO22 ENST00000308275 human ensembl 69_37n +1 known missense c.154 p.W52R 0.992 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like pfam_FIST_C_domain,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like - no_errors FBXO22 HGNC ENSG00000167196 60 0 0.00 10 35 77.78 - - - FLNB 0 genome.wustl.edu 37 3 58135903 58135904 + In_Frame_Ins INS - - CGT TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 3 58135903 58135904 - CGT INS FLNB ENST00000295956 human ensembl 69_37n +1 known in_frame_ins c.6316_6317 p.2108in_frame_insS 1.000:1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 86 0 0.00 29 38 56.72 - - - FRMD4A 0 genome.wustl.edu 37 10 13782556 13782556 + Silent SNP G G A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 10 13782556 13782556 G A SNP FRMD4A ENST00000357447 human ensembl 69_37n -1 known silent c.570 p.H190 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 89 0 0.00 105 13 11.02 - - - FRMPD3 0 genome.wustl.edu 37 X 106844028 106844028 + Frame_Shift_Del DEL C C - TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 X 106844028 106844028 C - DEL FRMPD3 ENST00000276185 human ensembl 69_37n +1 known frame_shift_del c.2858 p.L954fs 0.903 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 36 0 0.00 13 2 13.33 - - - FRYL 0 genome.wustl.edu 37 4 48636482 48636482 + Silent SNP A A G TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 4 48636482 48636482 A G SNP FRYL ENST00000505759 human ensembl 69_37n -1 novel silent c.222 p.N74 1.000 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region FRYL HGNC ENSG00000075539 101 0 0.00 145 81 35.84 - - - GPR97 0 genome.wustl.edu 37 16 57714456 57714456 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 16 57714456 57714456 C T SNP GPR97 ENST00000333493 human ensembl 69_37n +1 known missense c.808 p.R270C 0.144 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR97 HGNC ENSG00000182885 23 0 0.00 1 13 92.86 - - - GRK4 0 genome.wustl.edu 37 4 3039136 3039136 + Missense_Mutation SNP C C G TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 4 3039136 3039136 C G SNP GRK4 ENST00000398052 human ensembl 69_37n +1 known missense c.1443 p.I481M 0.198 smart_AGC-kinase_C,prints_GPCR_kinase pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 153 0 0.00 100 97 49.24 - - - HCFC1 0 genome.wustl.edu 37 X 153219586 153219587 + Frame_Shift_Ins INS - - G TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 X 153219586 153219587 - G INS HCFC1 ENST00000310441 human ensembl 69_37n -1 known frame_shift_ins c.4264_4263 p.C1421fs 1.000:0.875 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 13 0 0.00 3 2 40.00 - - - HCN4 0 genome.wustl.edu 37 15 73621931 73621931 + Missense_Mutation SNP G G A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 15 73621931 73621931 G A SNP HCN4 ENST00000261917 human ensembl 69_37n -1 known missense c.1573 p.R525C 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 46 0 0.00 10 33 76.74 - - - IL17RC 0 genome.wustl.edu 37 3 9974335 9974335 + Silent SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 3 9974335 9974335 C T SNP IL17RC ENST00000295981 human ensembl 69_37n +1 known silent c.1644 p.L548 0.016 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 36 0 0.00 53 29 35.37 - - - INPP5F 0 genome.wustl.edu 37 10 121583335 121583335 + Nonsense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 10 121583335 121583335 C T SNP INPP5F ENST00000361976 human ensembl 69_37n +1 known nonsense c.2170 p.Q724* 1.000 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 70 0 0.00 38 42 52.50 - - - ITK 0 genome.wustl.edu 37 5 156638350 156638350 + Missense_Mutation SNP G G A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 5 156638350 156638350 G A SNP ITK ENST00000422843 human ensembl 69_37n +1 known missense c.296 p.R99Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 74 0 0.00 51 30 37.04 - - - KCTD17 0 genome.wustl.edu 37 22 37455388 37455388 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 22 37455388 37455388 C T SNP KCTD17 ENST00000456470 human ensembl 69_37n +1 novel missense c.407 p.A136V 0.132 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KCTD17 HGNC ENSG00000100379 98 0 0.00 84 24 22.02 - - - KIAA1468 0 genome.wustl.edu 37 18 59854856 59854856 + Silent SNP C C A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 18 59854856 59854856 C A SNP KIAA1468 ENST00000256858 human ensembl 69_37n +1 known silent c.118 p.R40 0.998 NULL pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 21 0 0.00 18 14 43.75 - - - KIF11 0 genome.wustl.edu 37 10 94393475 94393475 + Missense_Mutation SNP G G T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 10 94393475 94393475 G T SNP KIF11 ENST00000260731 human ensembl 69_37n +1 known missense c.1798 p.V600F 0.331 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 115 0 0.00 86 31 26.50 - - - KRT1 0 genome.wustl.edu 37 12 53069105 53069105 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 12 53069105 53069105 C T SNP KRT1 ENST00000252244 human ensembl 69_37n -1 known missense c.1807 p.G603S 0.008 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 76 0 0.00 55 19 25.33 - - - LARS 0 genome.wustl.edu 37 5 145537087 145537087 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 5 145537087 145537087 C T SNP LARS ENST00000394434 human ensembl 69_37n -1 known missense c.944 p.G315E 0.995 pfam_aa-tRNA-synth_Ia,tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 106 0 0.00 86 54 38.57 - - - LRRIQ3 0 genome.wustl.edu 37 1 74507579 74507579 + Missense_Mutation SNP C C A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 1 74507579 74507579 C A SNP LRRIQ3 ENST00000354431 human ensembl 69_37n -1 known missense c.1036 p.D346Y 0.013 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 195 1 0.51 102 93 47.45 - - - LTBP2 0 genome.wustl.edu 37 14 74972768 74972768 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 14 74972768 74972768 C T SNP LTBP2 ENST00000261978 human ensembl 69_37n -1 known missense c.4160 p.R1387H 0.994 smart_EGF-like_Ca-bd,smart_EGF-like pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 52 0 0.00 36 11 23.40 - - - LYN 0 genome.wustl.edu 37 8 56864664 56864664 + Missense_Mutation SNP A A T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 8 56864664 56864664 A T SNP LYN ENST00000519728 human ensembl 69_37n +1 known missense c.627 p.K209N 0.913 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 122 0 0.00 244 91 27.16 - - - LYST 0 genome.wustl.edu 37 1 235969153 235969153 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 1 235969153 235969153 C T SNP LYST ENST00000389793 human ensembl 69_37n -1 known missense c.3283 p.E1095K 0.998 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 123 0 0.00 107 54 33.33 - - - MARS2 0 genome.wustl.edu 37 2 198570580 198570581 + Frame_Shift_Ins INS - - G TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 2 198570580 198570581 - G INS MARS2 ENST00000282276 human ensembl 69_37n +1 known frame_shift_ins c.451_452 p.V153fs 1.000:1.000 pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS2 HGNC ENSG00000247626 26 0 0.00 24 3 11.11 - - - MCRS1 0 genome.wustl.edu 37 12 49953743 49953743 + Missense_Mutation SNP G G C TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 12 49953743 49953743 G C SNP MCRS1 ENST00000357123 human ensembl 69_37n -1 known missense c.928 p.R310G 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 46 0 0.00 36 11 23.40 - - - MLL2 0 genome.wustl.edu 37 12 49427728 49427728 + Missense_Mutation SNP T T A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 12 49427728 49427728 T A SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known missense c.10760 p.E3587V 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 30 0 0.00 10 15 57.69 - - - MYH10 0 genome.wustl.edu 37 17 8384646 8384646 + Missense_Mutation SNP G G A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 17 8384646 8384646 G A SNP MYH10 ENST00000396239 human ensembl 69_37n -1 known missense c.5228 p.S1743F 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 27 0 0.00 30 7 18.92 - - - MYH10 0 genome.wustl.edu 37 17 8424562 8424562 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 17 8424562 8424562 C T SNP MYH10 ENST00000396239 human ensembl 69_37n -1 known missense c.1969 p.E657K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 165 0 0.00 224 111 32.94 - - - MYH11 0 genome.wustl.edu 37 16 15818522 15818522 + Missense_Mutation SNP G G C TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 16 15818522 15818522 G C SNP MYH11 ENST00000396324 human ensembl 69_37n -1 known missense c.4119 p.I1373M 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 140 0 0.00 74 67 47.52 - - - NUDT5 0 genome.wustl.edu 37 10 12215795 12215795 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 10 12215795 12215795 C T SNP NUDT5 ENST00000378937 human ensembl 69_37n -1 known missense c.346 p.E116K 0.998 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase - no_errors NUDT5 HGNC ENSG00000165609 191 0 0.00 129 48 26.97 - - - NXN 0 genome.wustl.edu 37 17 729229 729229 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 17 729229 729229 C T SNP NXN ENST00000571684 human ensembl 69_37n -1 putative missense c.13 p.A5T 0.961 NULL pfam_AhpC/TSA,pfam_Redoxin,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NXN HGNC ENSG00000167693 34 0 0.00 11 4 26.67 - - - OR10A6 0 genome.wustl.edu 37 11 7949711 7949711 + Missense_Mutation SNP G G A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 11 7949711 7949711 G A SNP OR10A6 ENST00000309838 human ensembl 69_37n -1 known missense c.499 p.P167S 0.457 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10A6 HGNC ENSG00000175393 262 0 0.00 358 143 28.49 - - - OR2Z1 0 genome.wustl.edu 37 19 8841768 8841768 + Silent SNP G G T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 19 8841768 8841768 G T SNP OR2Z1 ENST00000324060 human ensembl 69_37n +1 known silent c.378 p.V126 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 146 0 0.00 153 140 47.62 - - - PCDHGB4 0 genome.wustl.edu 37 5 140768708 140768708 + Silent SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 5 140768708 140768708 C T SNP PCDHGB4 ENST00000519479 human ensembl 69_37n +1 known silent c.1257 p.T419 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 111 0 0.00 98 64 39.51 - - - RCBTB2 0 genome.wustl.edu 37 13 49075943 49075943 + Silent SNP A A T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 13 49075943 49075943 A T SNP RCBTB2 ENST00000430805 human ensembl 69_37n -1 known silent c.1194 p.T398 0.682 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB2 HGNC ENSG00000136161 57 0 0.00 8 20 71.43 - - - SERPINA10 0 genome.wustl.edu 37 14 94756847 94756847 + Silent SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 14 94756847 94756847 C T SNP SERPINA10 ENST00000261994 human ensembl 69_37n -1 known silent c.84 p.S28 0.000 superfamily_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINA10 HGNC ENSG00000140093 23 0 0.00 5 16 76.19 - - - SETX 0 genome.wustl.edu 37 9 135140193 135140195 + In_Frame_Del DEL ACC ACC - TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 ACC ACC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 9 135140193 135140195 ACC - DEL SETX ENST00000372169 human ensembl 69_37n -1 known in_frame_del c.7554_7552 p.G2518in_frame_del 0.051:0.066:0.043 NULL NULL - no_errors SETX HGNC ENSG00000107290 123 0 0.00 106 55 33.74 - - - SIPA1L2 0 genome.wustl.edu 37 1 232561348 232561348 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 1 232561348 232561348 C T SNP SIPA1L2 ENST00000262861 human ensembl 69_37n -1 known missense c.4617 p.M1539I 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 12 0 0.00 1 14 87.50 - - - SLC2A1 0 genome.wustl.edu 37 1 43393369 43393369 + Silent SNP G G A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 1 43393369 43393369 G A SNP SLC2A1 ENST00000426263 human ensembl 69_37n -1 known silent c.1185 p.F395 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 25 0 0.00 14 7 33.33 - - - ST6GALNAC1 0 genome.wustl.edu 37 17 74623542 74623542 + Missense_Mutation SNP C C G TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 17 74623542 74623542 C G SNP ST6GALNAC1 ENST00000156626 human ensembl 69_37n -1 known missense c.955 p.E319Q 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 100 0 0.00 109 50 31.45 - - - STX10 0 genome.wustl.edu 37 19 13260551 13260551 + Nonsense_Mutation SNP C C A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 19 13260551 13260551 C A SNP STX10 ENST00000587230 human ensembl 69_37n -1 known nonsense c.196 p.E66* 1.000 pfam_Syntaxin-6_N,superfamily_t-SNARE pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX10 HGNC ENSG00000104915 46 0 0.00 52 8 13.33 - - - TAP1 0 genome.wustl.edu 37 6 32813449 32813449 + Silent SNP G G A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 6 32813449 32813449 G A SNP TAP1 ENST00000354258 human ensembl 69_37n -1 known silent c.2334 p.G778 0.054 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC ENSG00000168394 27 0 0.00 52 17 24.64 - - - TBCC 0 genome.wustl.edu 37 6 42713573 42713573 + Missense_Mutation SNP G G A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 6 42713573 42713573 G A SNP TBCC ENST00000244625 human ensembl 69_37n -1 known missense c.239 p.S80L 0.301 NULL pfam_Tubulin-bd_cofactor_C,smart_CARP_motif - no_errors TBCC HGNC ENSG00000124659 39 0 0.00 32 42 56.76 - - - TBL1X 0 genome.wustl.edu 37 X 9683009 9683009 + Missense_Mutation SNP G G T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 X 9683009 9683009 G T SNP TBL1X ENST00000217964 human ensembl 69_37n +1 known missense c.1673 p.G558V 0.998 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 22 0 0.00 4 19 82.61 - - - TBL3 0 genome.wustl.edu 37 16 2024405 2024405 + Missense_Mutation SNP A A G TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 16 2024405 2024405 A G SNP TBL3 ENST00000568546 human ensembl 69_37n +1 known missense c.218 p.D73G 0.955 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 20 0 0.00 30 7 18.42 - - - TBX18 0 genome.wustl.edu 37 6 85448266 85448266 + Missense_Mutation SNP G G T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 6 85448266 85448266 G T SNP TBX18 ENST00000369663 human ensembl 69_37n -1 known missense c.1048 p.P350T 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 208 0 0.00 45 128 73.56 - - - TCHH 0 genome.wustl.edu 37 1 152085140 152085140 + Missense_Mutation SNP C C G TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 1 152085140 152085140 C G SNP TCHH ENST00000368804 human ensembl 69_37n -1 known missense c.553 p.E185Q 0.006 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 101 0 0.00 78 55 41.35 - - - TCP10 0 genome.wustl.edu 37 6 167790110 167790110 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 6 167790110 167790110 C T SNP TCP10 ENST00000397829 human ensembl 69_37n -1 known missense c.500 p.R167H 0.001 NULL NULL - no_errors TCP10 HGNC ENSG00000203690 31 0 0.00 9 2 18.18 - - - TKTL2 0 genome.wustl.edu 37 4 164393824 164393824 + Missense_Mutation SNP A A G TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 4 164393824 164393824 A G SNP TKTL2 ENST00000280605 human ensembl 69_37n -1 known missense c.1063 p.F355L 0.995 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 146 0 0.00 98 107 51.94 - - - TMEM74B 0 genome.wustl.edu 37 20 1161624 1161624 + Silent SNP G G A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 20 1161624 1161624 G A SNP TMEM74B ENST00000381894 human ensembl 69_37n -1 known silent c.639 p.G213 1.000 NULL NULL - no_errors TMEM74B HGNC ENSG00000125895 43 0 0.00 82 17 17.17 - - - TSLP 0 genome.wustl.edu 37 5 110411667 110411667 + Silent SNP G G A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 5 110411667 110411667 G A SNP TSLP ENST00000344895 human ensembl 69_37n +1 known silent c.375 p.K125 0.000 NULL NULL - no_errors TSLP HGNC ENSG00000145777 135 0 0.00 103 24 18.90 - - - TTBK1 0 genome.wustl.edu 37 6 43251629 43251629 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 6 43251629 43251629 C T SNP TTBK1 ENST00000259750 human ensembl 69_37n +1 known missense c.3151 p.R1051C 0.734 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK1 HGNC ENSG00000146216 39 0 0.00 36 22 37.93 - - - UBAP2L 0 genome.wustl.edu 37 1 154229568 154229568 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 1 154229568 154229568 C T SNP UBAP2L ENST00000433615 human ensembl 69_37n +1 known missense c.178 p.P60S 0.998 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UBAP2L HGNC ENSG00000143569 134 0 0.00 126 91 41.94 - - - ZNF473 0 genome.wustl.edu 37 19 50548923 50548923 + Missense_Mutation SNP G G T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 19 50548923 50548923 G T SNP ZNF473 ENST00000270617 human ensembl 69_37n +1 known missense c.1223 p.R408L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF473 HGNC ENSG00000142528 210 1 0.47 141 137 49.10 - - - ZNF486 0 genome.wustl.edu 37 19 20308633 20308633 + Missense_Mutation SNP C C G TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 19 20308633 20308633 C G SNP ZNF486 ENST00000335117 human ensembl 69_37n +1 known missense c.1114 p.H372D 0.983 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF486 HGNC ENSG00000256229 155 1 0.64 173 105 37.77 - - - ZNF518B 0 genome.wustl.edu 37 4 10445216 10445216 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 4 10445216 10445216 C T SNP ZNF518B ENST00000326756 human ensembl 69_37n -1 known missense c.2737 p.D913N 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 165 0 0.00 200 110 35.37 - - - ZNF658 0 genome.wustl.edu 37 9 40772564 40772564 + Missense_Mutation SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 9 40772564 40772564 C T SNP ZNF658 ENST00000377626 human ensembl 69_37n -1 known missense c.2711 p.R904H 0.707 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF658 HGNC ENSG00000196409 264 0 0.00 60 242 79.87 - - - ZSCAN10 0 genome.wustl.edu 37 16 3140511 3140511 + Silent SNP G G A TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2b412ad8-abda-4cf8-8f68-59dbce80031e b34c4ee7-2776-40c7-9b34-b53e5674aab8 16 3140511 3140511 G A SNP ZSCAN10 ENST00000252463 human ensembl 69_37n -1 known silent c.759 p.L253 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC ENSG00000130182 19 0 0.00 18 11 37.93 - - -