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 ADAMTS15 0 genome.wustl.edu 37 11 130343075 130343075 + Frame_Shift_Del DEL A A - TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 11 130343075 130343075 A - DEL ADAMTS15 ENST00000299164 human ensembl 69_37n +1 known frame_shift_del c.2212 p.N738fs 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 23 0 0.00 18 2 10.00 - - - AMDHD2 0 genome.wustl.edu 37 16 2580462 2580462 + Missense_Mutation SNP T T G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 16 2580462 2580462 T G SNP AMDHD2 ENST00000413459 human ensembl 69_37n +1 known missense c.1487 p.L496R 0.000 NULL pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite - no_errors AMDHD2 HGNC ENSG00000162066 49 0 0.00 27 4 12.90 - - - ANK3 0 genome.wustl.edu 37 10 61832621 61832621 + Missense_Mutation SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 10 61832621 61832621 G A SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known missense c.8018 p.P2673L 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 ANK3 HGNC ENSG00000151150 71 0 0.00 63 17 21.25 - - - ANKAR 0 genome.wustl.edu 37 2 190602506 190602506 + Missense_Mutation SNP C C G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 2 190602506 190602506 C G SNP ANKAR ENST00000313581 human ensembl 69_37n +1 known missense c.3521 p.S1174C 0.467 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 159 0 0.00 107 33 23.57 - - - ARFGEF1 0 genome.wustl.edu 37 8 68189547 68189547 + Silent SNP A A G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 8 68189547 68189547 A G SNP ARFGEF1 ENST00000262215 human ensembl 69_37n -1 known silent c.1173 p.D391 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ENSG00000066777 131 0 0.00 239 41 14.64 - - - ARHGAP12 0 genome.wustl.edu 37 10 32197724 32197724 + Missense_Mutation SNP T T A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 10 32197724 32197724 T A SNP ARHGAP12 ENST00000344936 human ensembl 69_37n -1 known missense c.60 p.E20D 0.988 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_SH3_domain,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP12 HGNC ENSG00000165322 312 0 0.00 384 77 16.70 - - - ARHGEF3 0 genome.wustl.edu 37 3 56766419 56766420 + Frame_Shift_Ins INS - - A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 3 56766419 56766420 - A INS ARHGEF3 ENST00000338458 human ensembl 69_37n -1 known frame_shift_ins c.1171_1170 p.V390fs 1.000:0.949 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ENSG00000163947 47 0 0.00 47 40 45.98 - - - ASMTL 0 genome.wustl.edu 37 X 1554633 1554633 + Silent SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f X 1554633 1554633 G A SNP ASMTL ENST00000381317 human ensembl 69_37n -1 known silent c.292 p.L98 0.973 pfam_Maf,tigrfam_Maf pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 129 0 0.00 49 30 37.97 - - - ASTN1 0 genome.wustl.edu 37 1 177133537 177133537 + Silent SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 1 177133537 177133537 G A SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known silent c.276 p.F92 1.000 NULL superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 45 0 0.00 76 35 31.25 - - - ASTN2 0 genome.wustl.edu 37 9 119903677 119903677 + Missense_Mutation SNP C C T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 9 119903677 119903677 C T SNP ASTN2 ENST00000313400 human ensembl 69_37n -1 known missense c.1096 p.E366K 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 250 0 0.00 264 70 20.96 - - - ATF2 0 genome.wustl.edu 37 2 175939354 175939354 + Missense_Mutation SNP G G T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 2 175939354 175939354 G T SNP ATF2 ENST00000264110 human ensembl 69_37n -1 known missense c.1501 p.Q501K 1.000 pirsf_TF_cAMP-dep pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors ATF2 HGNC ENSG00000115966 63 0 0.00 92 23 20.00 - - - ATL2 0 genome.wustl.edu 37 2 38527429 38527429 + Silent SNP T T C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 2 38527429 38527429 T C SNP ATL2 ENST00000378954 human ensembl 69_37n -1 known silent c.1113 p.P371 0.991 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors ATL2 HGNC ENSG00000119787 340 0 0.00 193 63 24.61 - - - CATSPER1 0 genome.wustl.edu 37 11 65792950 65792950 + Missense_Mutation SNP G G C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 11 65792950 65792950 G C SNP CATSPER1 ENST00000312106 human ensembl 69_37n -1 known missense c.901 p.Q301E 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 724 0 0.00 520 240 31.58 - - - CDK5RAP2 0 genome.wustl.edu 37 9 123201946 123201946 + Silent SNP T T C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 9 123201946 123201946 T C SNP CDK5RAP2 ENST00000349780 human ensembl 69_37n -1 known silent c.3453 p.E1151 0.998 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 321 0 0.00 150 136 47.55 - - - CEP68 0 genome.wustl.edu 37 2 65299440 65299440 + Missense_Mutation SNP C C G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 2 65299440 65299440 C G SNP CEP68 ENST00000377990 human ensembl 69_37n +1 known missense c.1210 p.P404A 0.423 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 88 0 0.00 30 6 16.67 - - - CHGB 0 genome.wustl.edu 37 20 5904091 5904091 + Missense_Mutation SNP C C A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 20 5904091 5904091 C A SNP CHGB ENST00000378961 human ensembl 69_37n +1 known missense c.1301 p.T434N 0.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 132 0 0.00 76 50 39.68 - - - CLDN17 0 genome.wustl.edu 37 21 31538837 31538837 + Silent SNP T T A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 21 31538837 31538837 T A SNP CLDN17 ENST00000286808 human ensembl 69_37n -1 known silent c.99 p.S33 0.219 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8 - no_errors CLDN17 HGNC ENSG00000156282 130 0 0.00 111 28 20.14 - - - COL5A3 0 genome.wustl.edu 37 19 10088137 10088137 + Silent SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 19 10088137 10088137 G A SNP COL5A3 ENST00000264828 human ensembl 69_37n -1 known silent c.3138 p.G1046 0.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 128 0 0.00 51 18 26.09 - - - CPAMD8 0 genome.wustl.edu 37 19 17057997 17057997 + Missense_Mutation SNP A A T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 19 17057997 17057997 A T SNP CPAMD8 ENST00000291440 human ensembl 69_37n -1 known missense c.2690 p.V897D 0.998 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC ENSG00000160111 151 0 0.00 50 66 56.41 - - - CPED1 0 genome.wustl.edu 37 7 120737791 120737791 + Missense_Mutation SNP C C A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 7 120737791 120737791 C A SNP CPED1 ENST00000310396 human ensembl 69_37n +1 known missense c.655 p.Q219K 0.590 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 181 0 0.00 106 60 36.14 - - - DIS3L 0 genome.wustl.edu 37 15 66587367 66587367 + Missense_Mutation SNP C C G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 15 66587367 66587367 C G SNP DIS3L ENST00000319212 human ensembl 69_37n +1 known missense c.181 p.P61A 1.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L HGNC ENSG00000166938 138 0 0.00 63 12 16.00 - - - DNAH12 0 genome.wustl.edu 37 3 57343879 57343879 + Missense_Mutation SNP G G C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 3 57343879 57343879 G C SNP DNAH12 ENST00000351747 human ensembl 69_37n -1 known missense c.8296 p.L2766V 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 63 0 0.00 67 27 28.72 - - - DNAJC27 0 genome.wustl.edu 37 2 25174424 25174424 + Splice_Site SNP C C G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 2 25174424 25174424 C G SNP DNAJC27 ENST00000264711 human ensembl 69_37n -1 known splice_site c.529-1 e6-1 1.000 - - - no_errors DNAJC27 HGNC ENSG00000115137 98 0 0.00 58 23 28.40 - - - ERG 0 genome.wustl.edu 37 21 39817428 39817428 + Silent SNP G G C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 21 39817428 39817428 G C SNP ERG ENST00000398919 human ensembl 69_37n -1 known silent c.156 p.S52 1.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ERG HGNC ENSG00000157554 124 0 0.00 90 20 18.18 - - - ERN2 0 genome.wustl.edu 37 16 23706244 23706244 + Missense_Mutation SNP G G T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 16 23706244 23706244 G T SNP ERN2 ENST00000256797 human ensembl 69_37n -1 known missense c.2049 p.H683Q 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_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom - no_errors ERN2 HGNC ENSG00000134398 160 0 0.00 53 23 30.26 - - - F8 0 genome.wustl.edu 37 X 154091404 154091404 + Silent SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f X 154091404 154091404 G A SNP F8 ENST00000360256 human ensembl 69_37n -1 known silent c.6528 p.S2176 0.025 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_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 180 0 0.00 230 30 11.54 - - - FAM161B 0 genome.wustl.edu 37 14 74413296 74413297 + Frame_Shift_Ins INS - - G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 14 74413296 74413297 - G INS FAM161B ENST00000286544 human ensembl 69_37n -1 known frame_shift_ins c.256_255 p.E85fs 0.058:0.068 NULL pfam_UPF0564 - no_errors FAM161B HGNC ENSG00000156050 67 0 0.00 21 4 16.00 - - - FAM186A 0 genome.wustl.edu 37 12 50744938 50744938 + Missense_Mutation SNP T T A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 12 50744938 50744938 T A SNP FAM186A ENST00000327337 human ensembl 69_37n -1 known missense c.5677 p.T1893S 0.000 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 114 0 0.00 74 49 39.52 - - - FAM193A 0 genome.wustl.edu 37 4 2648490 2648491 + Frame_Shift_Ins INS - - T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 4 2648490 2648491 - T INS FAM193A ENST00000324666 human ensembl 69_37n +1 known frame_shift_ins c.369_370 p.E123fs 0.990:1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 42 0 0.00 19 12 38.71 - - - FAM193A 0 genome.wustl.edu 37 4 2648493 2648494 + Frame_Shift_Ins INS - - C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 4 2648493 2648494 - C INS FAM193A ENST00000324666 human ensembl 69_37n +1 known frame_shift_ins c.372_373 p.L124fs 1.000:1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 41 0 0.00 18 12 40.00 - - - FAM228A 0 genome.wustl.edu 37 2 24406369 24406369 + Nonsense_Mutation SNP C C T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 2 24406369 24406369 C T SNP FAM228A ENST00000295150 human ensembl 69_37n +1 known nonsense c.256 p.R86* 0.001 NULL NULL - no_errors FAM228A HGNC ENSG00000186453 205 0 0.00 128 32 20.00 - - - FAM98A 0 genome.wustl.edu 37 2 33810513 33810513 + Splice_Site DEL T T - TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 2 33810513 33810513 T - DEL FAM98A ENST00000238823 human ensembl 69_37n -1 known splice_site_del c.889-2 e8-2 0.999 - - - no_errors FAM98A HGNC ENSG00000119812 90 0 0.00 75 22 22.00 - - - FLNC 0 genome.wustl.edu 37 7 128482326 128482326 + Missense_Mutation SNP C C A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 7 128482326 128482326 C A SNP FLNC ENST00000325888 human ensembl 69_37n +1 known missense c.2163 p.N721K 0.029 pfam_Filamin/ABP280_repeat-like,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 FLNC HGNC ENSG00000128591 55 0 0.00 10 4 26.67 - - - FRG1B 0 genome.wustl.edu 37 20 29632707 29632707 + Silent SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 20 29632707 29632707 G A SNP FRG1B ENST00000278882 human ensembl 69_37n +1 known silent c.522 p.E174 1.000 pfam_FRG1 pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 31 0 0.00 20 4 16.67 - - - GDPD1 0 genome.wustl.edu 37 17 57352538 57352538 + Silent SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 17 57352538 57352538 G A SNP GDPD1 ENST00000581140 human ensembl 69_37n +1 known silent c.849 p.L283 0.003 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD1 HGNC ENSG00000153982 301 0 0.00 346 39 10.08 - - - GGA2 0 genome.wustl.edu 37 16 23492053 23492053 + Missense_Mutation SNP C C T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 16 23492053 23492053 C T SNP GGA2 ENST00000309859 human ensembl 69_37n -1 known missense c.919 p.V307I 1.000 pfam_GAT,pfscan_GAT pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA2 HGNC ENSG00000103365 114 0 0.00 75 14 15.56 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685820 23685820 + Missense_Mutation SNP G G T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 15 23685820 23685820 G T SNP GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative missense c.1802 p.A601E 0.000 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 10 0 0.00 10 5 33.33 - - - GPATCH8 0 genome.wustl.edu 37 17 42477506 42477506 + Missense_Mutation SNP G G T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 17 42477506 42477506 G T SNP GPATCH8 ENST00000591680 human ensembl 69_37n -1 known missense c.1939 p.P647T 0.701 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 175 0 0.00 168 40 19.05 - - - GPR161 0 genome.wustl.edu 37 1 168066094 168066094 + Missense_Mutation SNP T T C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 1 168066094 168066094 T C SNP GPR161 ENST00000537209 human ensembl 69_37n -1 known missense c.811 p.S271G 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 67 0 0.00 53 9 14.52 - - - GPR61 0 genome.wustl.edu 37 1 110086349 110086349 + Silent SNP C C G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 1 110086349 110086349 C G SNP GPR61 ENST00000404129 human ensembl 69_37n +1 known silent c.705 p.A235 0.945 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR61 HGNC ENSG00000156097 44 0 0.00 17 5 22.73 - - - GRIA1 0 genome.wustl.edu 37 5 153030053 153030053 + Silent SNP C C A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 5 153030053 153030053 C A SNP GRIA1 ENST00000448073 human ensembl 69_37n +1 known silent c.654 p.R218 0.995 pfam_ANF_lig-bd_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 GRIA1 HGNC ENSG00000155511 306 0 0.00 195 63 24.42 - - - HELZ 0 genome.wustl.edu 37 17 65105258 65105258 + Missense_Mutation SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 17 65105258 65105258 G A SNP HELZ ENST00000358691 human ensembl 69_37n -1 known missense c.4463 p.S1488L 0.034 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 103 0 0.00 162 54 24.88 - - - HIP1 0 genome.wustl.edu 37 7 75174474 75174474 + Missense_Mutation SNP G G C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 7 75174474 75174474 G C SNP HIP1 ENST00000336926 human ensembl 69_37n -1 known missense c.2572 p.P858A 1.000 pfam_ILWEQ,smart_ILWEQ,pfscan_ILWEQ pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1 HGNC ENSG00000127946 98 0 0.00 52 12 18.75 - - - HIVEP2 0 genome.wustl.edu 37 6 143074259 143074259 + Silent SNP C C T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 6 143074259 143074259 C T SNP HIVEP2 ENST00000012134 human ensembl 69_37n -1 known silent c.7326 p.K2442 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 154 0 0.00 129 25 16.23 - - - HPSE 0 genome.wustl.edu 37 4 84227420 84227420 + Missense_Mutation SNP A A T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 4 84227420 84227420 A T SNP HPSE ENST00000311412 human ensembl 69_37n -1 known missense c.1142 p.M381K 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE HGNC ENSG00000173083 191 0 0.00 105 34 24.46 - - - IGSF5 0 genome.wustl.edu 37 21 41142941 41142941 + Missense_Mutation SNP G G T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 21 41142941 41142941 G T SNP IGSF5 ENST00000380588 human ensembl 69_37n +1 novel missense c.517 p.D173Y 0.004 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors IGSF5 HGNC ENSG00000183067 135 0 0.00 67 33 33.00 - - - IL17B 0 genome.wustl.edu 37 5 148756510 148756510 + Missense_Mutation SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 5 148756510 148756510 G A SNP IL17B ENST00000261796 human ensembl 69_37n -1 known missense c.100 p.R34W 0.011 pfam_Interleukin-17 pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17B HGNC ENSG00000127743 32 0 0.00 15 13 46.43 - - - IQGAP3 0 genome.wustl.edu 37 1 156502784 156502784 + Missense_Mutation SNP C C T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 1 156502784 156502784 C T SNP IQGAP3 ENST00000361170 human ensembl 69_37n -1 known missense c.4091 p.S1364N 0.992 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 463 0 0.00 209 45 17.58 - - - KCNH5 0 genome.wustl.edu 37 14 63473181 63473181 + Silent SNP A A G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 14 63473181 63473181 A G SNP KCNH5 ENST00000322893 human ensembl 69_37n -1 known silent c.207 p.Y69 1.000 pfam_PAS_fold,tigrfam_PAS pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 153 0 0.00 185 31 14.35 - - - KCNJ6 0 genome.wustl.edu 37 21 39086885 39086886 + Frame_Shift_Ins INS - - GG TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 21 39086885 39086886 - GG INS KCNJ6 ENST00000288309 human ensembl 69_37n -1 known frame_shift_ins c.575_574 p.K192fs 1.000:1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 17 0 0.00 33 42 56.00 - - - LHFPL1 0 genome.wustl.edu 37 X 111874827 111874827 + Missense_Mutation SNP T T C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f X 111874827 111874827 T C SNP LHFPL1 ENST00000371968 human ensembl 69_37n -1 known missense c.484 p.T162A 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL1 HGNC ENSG00000182508 83 0 0.00 119 29 19.33 - - - LONP2 0 genome.wustl.edu 37 16 48295483 48295483 + Missense_Mutation SNP T T G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 16 48295483 48295483 T G SNP LONP2 ENST00000285737 human ensembl 69_37n +1 known missense c.872 p.V291G 1.000 tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP2 HGNC ENSG00000102910 137 0 0.00 94 45 32.37 - - - MADD 0 genome.wustl.edu 37 11 47331104 47331104 + Missense_Mutation SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 11 47331104 47331104 G A SNP MADD ENST00000311027 human ensembl 69_37n +1 known missense c.4099 p.E1367K 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 291 0 0.00 228 53 18.79 - - - MAP2 0 genome.wustl.edu 37 2 210559945 210559945 + Missense_Mutation SNP G G T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 2 210559945 210559945 G T SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known missense c.3051 p.K1017N 0.428 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 94 0 0.00 58 14 19.44 - - - MDGA2 0 genome.wustl.edu 37 14 47530633 47530633 + Missense_Mutation SNP T T A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 14 47530633 47530633 T A SNP MDGA2 ENST00000554762 human ensembl 69_37n -1 novel missense c.460 p.I154F 0.572 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MDGA2 HGNC ENSG00000139915 70 0 0.00 36 52 59.09 - - - METTL11B 0 genome.wustl.edu 37 1 170136716 170136716 + Missense_Mutation SNP G G T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 1 170136716 170136716 G T SNP METTL11B ENST00000439373 human ensembl 69_37n +1 known missense c.670 p.V224L 1.000 pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pirsf_DUF858_MeTrfase_lik - no_errors METTL11B HGNC ENSG00000203740 79 0 0.00 141 24 14.55 - - - METTL13 0 genome.wustl.edu 37 1 171763540 171763540 + Silent SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 1 171763540 171763540 G A SNP METTL13 ENST00000361735 human ensembl 69_37n +1 known silent c.1698 p.R566 0.000 pfam_Spermidine/spermine_synthase pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 185 1 0.54 140 30 17.54 - - - MLL3 0 genome.wustl.edu 37 7 151917808 151917808 + Missense_Mutation SNP G G C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 7 151917808 151917808 G C SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.3512 p.T1171S 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 107 0 0.00 129 30 18.87 - - - MOV10 0 genome.wustl.edu 37 1 113239380 113239380 + Missense_Mutation SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 1 113239380 113239380 G A SNP MOV10 ENST00000357443 human ensembl 69_37n +1 known missense c.2110 p.E704K 1.000 NULL NULL - no_errors MOV10 HGNC ENSG00000155363 296 0 0.00 97 53 35.10 - - - MRPL45 0 genome.wustl.edu 37 17 36474595 36474595 + Silent SNP T T C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 17 36474595 36474595 T C SNP MRPL45 ENST00000312513 human ensembl 69_37n +1 known silent c.471 p.H157 1.000 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45 - no_errors MRPL45 HGNC ENSG00000174100 174 0 0.00 129 21 14.00 - - - MUC16 0 genome.wustl.edu 37 19 9065990 9065990 + Silent SNP A A G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 19 9065990 9065990 A G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.21456 p.P7152 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 588 0 0.00 508 209 29.07 - - - MUC4 0 genome.wustl.edu 37 3 195507242 195507242 + Missense_Mutation SNP C C A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 3 195507242 195507242 C A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.11209 p.A3737S 0.018 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 11 0 0.00 20 11 35.48 - - - MUC4 0 genome.wustl.edu 37 3 195512103 195512103 + Silent SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 3 195512103 195512103 G A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.6348 p.T2116 0.138 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 34 0 0.00 25 7 21.88 - - - MYCN 0 genome.wustl.edu 37 2 16086025 16086025 + Missense_Mutation SNP T T A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 2 16086025 16086025 T A SNP MYCN ENST00000281043 human ensembl 69_37n +1 known missense c.1201 p.F401I 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 43 0 0.00 14 13 48.15 - - - MYH9 0 genome.wustl.edu 37 22 36681952 36681952 + Silent SNP C C G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 22 36681952 36681952 C G SNP MYH9 ENST00000216181 human ensembl 69_37n -1 known silent c.5109 p.R1703 1.000 pfam_Myosin_tail,superfamily_tRNA-bd_arm pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 83 0 0.00 25 18 41.86 - - - NAV1 0 genome.wustl.edu 37 1 201618306 201618306 + Missense_Mutation SNP G G T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 1 201618306 201618306 G T SNP NAV1 ENST00000367296 human ensembl 69_37n +1 known missense c.510 p.K170N 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 13 0 0.00 13 6 31.58 - - - NCOR1 0 genome.wustl.edu 37 17 15943800 15943800 + Nonsense_Mutation SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 17 15943800 15943800 G A SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known nonsense c.6688 p.Q2230* 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 100 0 0.00 31 38 54.29 - - - NLRP9 0 genome.wustl.edu 37 19 56244140 56244140 + Missense_Mutation SNP T T C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 19 56244140 56244140 T C SNP NLRP9 ENST00000332836 human ensembl 69_37n -1 known missense c.1057 p.R353G 0.015 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 156 0 0.00 124 101 44.89 - - - NMNAT2 0 genome.wustl.edu 37 1 183255842 183255842 + Frame_Shift_Del DEL G G - TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 1 183255842 183255842 G - DEL NMNAT2 ENST00000287713 human ensembl 69_37n -1 known frame_shift_del c.403 p.Q135fs 1.000 pfam_Cytidylyltransf pfam_Cytidylyltransf - no_errors NMNAT2 HGNC ENSG00000157064 514 0 0.00 309 55 14.99 - - - NPHS1 0 genome.wustl.edu 37 19 36330494 36330494 + Missense_Mutation SNP G G C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 19 36330494 36330494 G C SNP NPHS1 ENST00000378910 human ensembl 69_37n -1 known missense c.2831 p.P944R 0.982 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NPHS1 HGNC ENSG00000161270 239 0 0.00 101 39 27.86 - - - NTRK1 0 genome.wustl.edu 37 1 156848984 156848984 + Missense_Mutation SNP C C A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 1 156848984 156848984 C A SNP NTRK1 ENST00000524377 human ensembl 69_37n +1 known missense c.1876 p.Q626K 1.000 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 126 0 0.00 107 20 15.62 - - - NXF5 0 genome.wustl.edu 37 X 101092628 101092628 + Splice_Site SNP T T C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f X 101092628 101092628 T C SNP NXF5 ENST00000263032 human ensembl 69_37n -1 known splice_site c.920-2 e13-2 0.446 - - - no_errors NXF5 HGNC ENSG00000126952 279 0 0.00 118 95 44.60 - - - OTOP2 0 genome.wustl.edu 37 17 72927076 72927076 + Missense_Mutation SNP C C G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 17 72927076 72927076 C G SNP OTOP2 ENST00000331427 human ensembl 69_37n +1 known missense c.1346 p.T449S 0.991 NULL pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 77 0 0.00 86 12 12.24 - - - PKHD1 0 genome.wustl.edu 37 6 51824744 51824744 + Missense_Mutation SNP G G T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 6 51824744 51824744 G T SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known missense c.5832 p.D1944E 1.000 pfam_G8_domain pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 170 0 0.00 179 40 18.26 - - - PLCH1 0 genome.wustl.edu 37 3 155212270 155212270 + Missense_Mutation SNP C C G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 3 155212270 155212270 C G SNP PLCH1 ENST00000340059 human ensembl 69_37n -1 known missense c.1895 p.R632T 1.000 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 250 0 0.00 358 69 16.16 - - - PMEPA1 0 genome.wustl.edu 37 20 56227380 56227380 + Missense_Mutation SNP T T A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 20 56227380 56227380 T A SNP PMEPA1 ENST00000341744 human ensembl 69_37n -1 known missense c.593 p.D198V 0.998 NULL NULL - no_errors PMEPA1 HGNC ENSG00000124225 77 0 0.00 7 25 78.12 - - - POTEC 0 genome.wustl.edu 37 18 14542680 14542680 + Missense_Mutation SNP C C A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 18 14542680 14542680 C A SNP POTEC ENST00000358970 human ensembl 69_37n -1 known missense c.466 p.D156Y 0.001 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTEC HGNC ENSG00000183206 321 0 0.00 116 92 44.23 - - - PRF1 0 genome.wustl.edu 37 10 72360527 72360527 + Silent SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 10 72360527 72360527 G A SNP PRF1 ENST00000318971 human ensembl 69_37n -1 known silent c.132 p.A44 0.006 NULL pfam_MACPF,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_MACPF,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors PRF1 HGNC ENSG00000180644 51 0 0.00 23 8 25.81 - - - PSMC4 0 genome.wustl.edu 37 19 40480261 40480261 + Missense_Mutation SNP C C T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 19 40480261 40480261 C T SNP PSMC4 ENST00000157812 human ensembl 69_37n +1 known missense c.383 p.A128V 1.000 tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 44 0 0.00 30 11 26.83 - - - PTPRG 0 genome.wustl.edu 37 3 62259418 62259418 + Missense_Mutation SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 3 62259418 62259418 G A SNP PTPRG ENST00000474889 human ensembl 69_37n +1 known missense c.3364 p.G1122R 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 192 0 0.00 167 26 13.47 - - - RAB40A 0 genome.wustl.edu 37 X 102755666 102755666 + Missense_Mutation SNP G G T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f X 102755666 102755666 G T SNP RAB40A ENST00000304236 human ensembl 69_37n -1 known missense c.19 p.P7T 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,prints_Small_GTPase,pfscan_SOCS_C,tigrfam_Small_GTP-bd_dom - no_errors RAB40A HGNC ENSG00000172476 66 0 0.00 41 10 19.61 - - - RENBP 0 genome.wustl.edu 37 X 153209420 153209420 + Silent SNP T T C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f X 153209420 153209420 T C SNP RENBP ENST00000393700 human ensembl 69_37n -1 known silent c.216 p.V72 0.228 pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like - no_errors RENBP HGNC ENSG00000102032 47 0 0.00 4 9 69.23 - - - ROR1 0 genome.wustl.edu 37 1 64515405 64515405 + Missense_Mutation SNP C C T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 1 64515405 64515405 C T SNP ROR1 ENST00000371079 human ensembl 69_37n +1 known missense c.206 p.T69M 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors ROR1 HGNC ENSG00000185483 163 0 0.00 98 48 32.88 - - - RPGR 0 genome.wustl.edu 37 X 38144855 38144855 + Missense_Mutation SNP C C A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f X 38144855 38144855 C A SNP RPGR ENST00000378505 human ensembl 69_37n -1 known missense c.3397 p.G1133W 0.038 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 61 0 0.00 31 21 40.38 - - - SEMA4G 0 genome.wustl.edu 37 10 102740951 102740951 + Missense_Mutation SNP G G C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 10 102740951 102740951 G C SNP SEMA4G ENST00000210633 human ensembl 69_37n +1 known missense c.1670 p.R557T 0.998 superfamily_Plexin-like_fold,smart_Plexin-like pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4G HGNC ENSG00000095539 221 0 0.00 89 40 31.01 - - - SGCE 0 genome.wustl.edu 37 7 94232698 94232698 + Missense_Mutation SNP C C G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 7 94232698 94232698 C G SNP SGCE ENST00000445866 human ensembl 69_37n -1 known missense c.729 p.Q243H 0.998 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCE HGNC ENSG00000127990 167 0 0.00 153 44 22.34 - - - SLC10A1 0 genome.wustl.edu 37 14 70245196 70245196 + Missense_Mutation SNP C C T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 14 70245196 70245196 C T SNP SLC10A1 ENST00000216540 human ensembl 69_37n -1 known missense c.797 p.C266Y 1.000 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A1 HGNC ENSG00000100652 159 0 0.00 60 39 39.39 - - - SLC17A3 0 genome.wustl.edu 37 6 25850741 25850741 + Missense_Mutation SNP C C A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 6 25850741 25850741 C A SNP SLC17A3 ENST00000397060 human ensembl 69_37n -1 known missense c.939 p.M313I 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 255 0 0.00 155 79 33.62 - - - SLC25A44 0 genome.wustl.edu 37 1 156169758 156169758 + Silent SNP C C A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 1 156169758 156169758 C A SNP SLC25A44 ENST00000359511 human ensembl 69_37n +1 known silent c.120 p.L40 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A44 HGNC ENSG00000160785 492 0 0.00 329 78 19.16 - - - SLC31A1 0 genome.wustl.edu 37 9 116021131 116021131 + Missense_Mutation SNP C C G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 9 116021131 116021131 C G SNP SLC31A1 ENST00000374212 human ensembl 69_37n +1 known missense c.360 p.H120Q 1.000 pfam_Cop_transporter pfam_Cop_transporter - no_errors SLC31A1 HGNC ENSG00000136868 113 0 0.00 111 19 14.62 - - - SPTA1 0 genome.wustl.edu 37 1 158606472 158606472 + Missense_Mutation SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 1 158606472 158606472 G A SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.5269 p.R1757C 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 145 0 0.00 79 69 46.62 - - - SYT8 0 genome.wustl.edu 37 11 1857139 1857139 + Frame_Shift_Del DEL G G - TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 11 1857139 1857139 G - DEL SYT8 ENST00000381968 human ensembl 69_37n +1 known frame_shift_del c.324 p.E109fs 0.077 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,pfscan_C2_membr_targeting - no_errors SYT8 HGNC ENSG00000149043 47 0 0.00 8 2 20.00 - - - TEX14 0 genome.wustl.edu 37 17 56700371 56700371 + Missense_Mutation SNP C C G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 17 56700371 56700371 C G SNP TEX14 ENST00000240361 human ensembl 69_37n -1 known missense c.254 p.R85P 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC ENSG00000121101 98 0 0.00 115 29 20.00 - - - TRPC5 0 genome.wustl.edu 37 X 111155910 111155910 + Missense_Mutation SNP C C A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f X 111155910 111155910 C A SNP TRPC5 ENST00000262839 human ensembl 69_37n -1 known missense c.509 p.R170L 1.000 smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 99 0 0.00 89 23 20.54 - - - TSSC1 0 genome.wustl.edu 37 2 3261182 3261182 + Missense_Mutation SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 2 3261182 3261182 G A SNP TSSC1 ENST00000382125 human ensembl 69_37n -1 known missense c.304 p.P102S 1.000 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TSSC1 HGNC ENSG00000032389 108 0 0.00 79 28 25.93 - - - TTN 0 genome.wustl.edu 37 2 179449278 179449278 + Missense_Mutation SNP C C G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 2 179449278 179449278 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.57296 p.R19099P 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 98 0 0.00 76 32 29.63 - - - UGT8 0 genome.wustl.edu 37 4 115586909 115586909 + Frame_Shift_Del DEL C C - TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 4 115586909 115586909 C - DEL UGT8 ENST00000310836 human ensembl 69_37n +1 known frame_shift_del c.1039 p.H349fs 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT8 HGNC ENSG00000174607 326 0 0.00 65 69 50.36 - - - UTP14C 0 genome.wustl.edu 37 13 52605143 52605143 + Missense_Mutation SNP G G T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 13 52605143 52605143 G T SNP UTP14C ENST00000521776 human ensembl 69_37n +1 known missense c.2203 p.D735Y 1.000 NULL pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 190 0 0.00 95 40 29.63 - - - VMP1 0 genome.wustl.edu 37 17 57917167 57917167 + Silent SNP C C G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 17 57917167 57917167 C G SNP VMP1 ENST00000262291 human ensembl 69_37n +1 known silent c.1116 p.V372 0.072 NULL NULL - no_errors VMP1 HGNC ENSG00000062716 344 0 0.00 392 55 12.30 - - - YTHDF3 0 genome.wustl.edu 37 8 64099266 64099266 + RNA SNP C C T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 8 64099266 64099266 C T SNP YTHDF3 ENST00000339066 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC ENSG00000185728 94 0 0.00 134 20 12.99 - - - YY1AP1 0 genome.wustl.edu 37 1 155638533 155638533 + Missense_Mutation SNP G G C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 1 155638533 155638533 G C SNP YY1AP1 ENST00000368339 human ensembl 69_37n -1 known missense c.1178 p.T393S 1.000 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 444 0 0.00 406 118 22.48 - - - YY2 0 genome.wustl.edu 37 X 21875634 21875634 + Silent SNP C C G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f X 21875634 21875634 C G SNP YY2 ENST00000429584 human ensembl 69_37n +1 known silent c.1032 p.P344 0.499 smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY2 HGNC ENSG00000230797 53 0 0.00 27 6 18.18 - - - ZC3H15 0 genome.wustl.edu 37 2 187370515 187370515 + Missense_Mutation SNP G G A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 2 187370515 187370515 G A SNP ZC3H15 ENST00000337859 human ensembl 69_37n +1 known missense c.913 p.D305N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 123 0 0.00 86 27 23.89 - - - ZNF317 0 genome.wustl.edu 37 19 9271595 9271596 + Frame_Shift_Ins INS - - G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 19 9271595 9271596 - G INS ZNF317 ENST00000247956 human ensembl 69_37n +1 known frame_shift_ins c.1274_1275 p.T426fs 0.601:0.025 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 ZNF317 HGNC ENSG00000130803 197 0 0.00 77 60 43.80 - - - ZNF317 0 genome.wustl.edu 37 19 9271933 9271934 + Frame_Shift_Ins INS - - A TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 19 9271933 9271934 - A INS ZNF317 ENST00000247956 human ensembl 69_37n +1 known frame_shift_ins c.1612_1613 p.A538fs 0.836:0.860 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 ZNF317 HGNC ENSG00000130803 153 0 0.00 83 64 43.54 - - - ZNF658 0 genome.wustl.edu 37 9 40774719 40774719 + Missense_Mutation SNP C C G TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 9 40774719 40774719 C G SNP ZNF658 ENST00000377626 human ensembl 69_37n -1 known missense c.556 p.E186Q 0.554 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF658 HGNC ENSG00000196409 29 0 0.00 19 10 34.48 - - - ZNF749 0 genome.wustl.edu 37 19 57953288 57953288 + Silent SNP C C T TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 19 57953288 57953288 C T SNP ZNF749 ENST00000334181 human ensembl 69_37n +1 known silent c.51 p.F17 0.396 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF749 HGNC ENSG00000186230 498 0 0.00 168 170 50.30 - - - ZRANB3 0 genome.wustl.edu 37 2 136023137 136023137 + Silent SNP A A C TCGA-B6-A0I8-01A-11W-A050-09 TCGA-B6-A0I8-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ba80b13a-e20a-441b-b845-b617cc861ce7 4ff30155-adbf-49dd-a3f2-d040142f0b6f 2 136023137 136023137 A C SNP ZRANB3 ENST00000264159 human ensembl 69_37n -1 known silent c.1506 p.S502 0.041 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 139 0 0.00 96 20 17.24 - - -