Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCA12 0 genome.wustl.edu 37 2 215831644 215831644 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 2 215831644 215831644 G C SNP ABCA12 ENST00000272895 human ensembl 69_37n -1 known missense c.5812 p.P1938A 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 147 0 0.00 119 53 30.81 - - - ABCA8 0 genome.wustl.edu 37 17 66891114 66891114 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 17 66891114 66891114 C T SNP ABCA8 ENST00000589533 human ensembl 69_37n -1 known missense c.1747 p.E583K 0.970 NULL pfam_ABC_transporter-like,pfam_Ribosome_biogen_GTPase_RsgA,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_start_codon:pseudogene:no_stop_codon ABCA8 HGNC ENSG00000141338 170 0 0.00 98 36 26.47 - - - ABR 0 genome.wustl.edu 37 17 962030 962030 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 17 962030 962030 G C SNP ABR ENST00000574544 human ensembl 69_37n -1 putative missense c.259 p.Q87E 1.000 pfam_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ABR HGNC ENSG00000159842 228 0 0.00 125 16 11.35 - - - ABTB2 0 genome.wustl.edu 37 11 34182470 34182470 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 34182470 34182470 C T SNP ABTB2 ENST00000435224 human ensembl 69_37n -1 known missense c.2377 p.D793N 0.888 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 36 0 0.00 13 5 27.78 - - - ADAMTS3 0 genome.wustl.edu 37 4 73205317 73205317 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 4 73205317 73205317 C T SNP ADAMTS3 ENST00000286657 human ensembl 69_37n -1 known missense c.755 p.G252E 0.994 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC ENSG00000156140 115 0 0.00 140 47 25.13 - - - ADGB 0 genome.wustl.edu 37 6 146993405 146993405 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 6 146993405 146993405 G A SNP ADGB ENST00000397944 human ensembl 69_37n +1 known missense c.889 p.E297K 0.574 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat - no_errors ADGB HGNC ENSG00000118492 99 0 0.00 46 50 52.08 - - - AGAP3 0 genome.wustl.edu 37 7 150819866 150819866 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 7 150819866 150819866 C T SNP AGAP3 ENST00000473312 human ensembl 69_37n +1 known missense c.1183 p.P395S 1.000 NULL pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 73 0 0.00 17 7 29.17 - - - AGXT2L2 0 genome.wustl.edu 37 5 177656971 177656971 + Missense_Mutation SNP T T G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 5 177656971 177656971 T G SNP AGXT2L2 ENST00000308158 human ensembl 69_37n -1 known missense c.308 p.Q103P 0.869 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L2 HGNC ENSG00000175309 60 0 0.00 32 5 13.51 - - - ALDOA 0 genome.wustl.edu 37 16 30080238 30080238 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 16 30080238 30080238 C T SNP ALDOA ENST00000338110 human ensembl 69_37n +1 known missense c.479 p.S160L 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOA HGNC ENSG00000149925 109 0 0.00 50 11 18.03 - - - ANAPC7 0 genome.wustl.edu 37 12 110819687 110819687 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 12 110819687 110819687 C T SNP ANAPC7 ENST00000455511 human ensembl 69_37n -1 known silent c.1104 p.L368 0.997 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ANAPC7 HGNC ENSG00000196510 116 0 0.00 48 17 26.15 - - - ANGPTL3 0 genome.wustl.edu 37 1 63064371 63064371 + Missense_Mutation SNP T T C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 63064371 63064371 T C SNP ANGPTL3 ENST00000371129 human ensembl 69_37n +1 known missense c.500 p.F167S 1.000 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL3 HGNC ENSG00000132855 132 0 0.00 151 43 21.83 - - - ANGPTL5 0 genome.wustl.edu 37 11 101777891 101777891 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 101777891 101777891 C T SNP ANGPTL5 ENST00000334289 human ensembl 69_37n -1 known missense c.184 p.E62K 0.297 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL5 HGNC ENSG00000187151 129 0 0.00 34 50 59.52 - - - ARMC5 0 genome.wustl.edu 37 16 31471049 31471049 + Frame_Shift_Del DEL C C - TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 16 31471049 31471049 C - DEL ARMC5 ENST00000408912 human ensembl 69_37n +1 known frame_shift_del c.489 p.L165fs 1.000 NULL superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ENSG00000140691 25 0 0.00 4 2 33.33 - - - ASH1L 0 genome.wustl.edu 37 1 155448175 155448175 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 155448175 155448175 C G SNP ASH1L ENST00000368346 human ensembl 69_37n -1 known missense c.4486 p.E1496Q 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 315 0 0.00 144 60 29.27 - - - ASTN1 0 genome.wustl.edu 37 1 176852045 176852045 + Silent SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 176852045 176852045 G A SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known silent c.3336 p.L1112 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 132 0 0.00 116 18 13.43 - - - BAZ1B 0 genome.wustl.edu 37 7 72891207 72891207 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 7 72891207 72891207 C T SNP BAZ1B ENST00000339594 human ensembl 69_37n -1 known missense c.2584 p.E862K 0.999 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 167 0 0.00 149 33 18.03 - - - BCAS2 0 genome.wustl.edu 37 1 115113329 115113329 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 115113329 115113329 C T SNP BCAS2 ENST00000369541 human ensembl 69_37n -1 known silent c.462 p.Q154 1.000 pfam_BCAS2 pfam_BCAS2 - no_errors BCAS2 HGNC ENSG00000116752 103 0 0.00 76 46 37.40 - - - BCR 0 genome.wustl.edu 37 22 23524096 23524097 + Frame_Shift_Ins INS - - C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 22 23524096 23524097 - C INS BCR ENST00000305877 human ensembl 69_37n +1 known frame_shift_ins c.949_950 p.R319fs 1.000:1.000 NULL pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 55 0 0.00 21 3 12.50 - - - BPNT1 0 genome.wustl.edu 37 1 220242756 220242756 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 220242756 220242756 G A SNP BPNT1 ENST00000322067 human ensembl 69_37n -1 known missense c.352 p.P118S 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors BPNT1 HGNC ENSG00000162813 72 0 0.00 91 13 12.50 - - - BRD7 0 genome.wustl.edu 37 16 50357560 50357560 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 16 50357560 50357560 C T SNP BRD7 ENST00000394689 human ensembl 69_37n -1 known missense c.1381 p.D461N 1.000 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 217 0 0.00 41 106 72.11 - - - BTBD19 0 genome.wustl.edu 37 1 45279142 45279142 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 45279142 45279142 G A SNP BTBD19 ENST00000450269 human ensembl 69_37n +1 known missense c.712 p.E238K 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD19 HGNC ENSG00000222009 127 0 0.00 44 14 24.14 - - - BTBD9 0 genome.wustl.edu 37 6 38548069 38548069 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 6 38548069 38548069 G A SNP BTBD9 ENST00000403056 human ensembl 69_37n -1 known missense c.959 p.S320F 0.985 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 142 0 0.00 96 39 28.89 - - - C11orf45 0 genome.wustl.edu 37 11 128773376 128773376 + Frame_Shift_Del DEL T T - TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 128773376 128773376 T - DEL C11orf45 ENST00000310799 human ensembl 69_37n -1 known frame_shift_del c.167 p.N56fs 0.000 NULL NULL - no_errors C11orf45 HGNC ENSG00000174370 70 0 0.00 16 2 11.11 - - - C15orf39 0 genome.wustl.edu 37 15 75498915 75498915 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 15 75498915 75498915 C T SNP C15orf39 ENST00000565074 human ensembl 69_37n +1 known missense c.131 p.S44F 0.004 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C15orf39 HGNC ENSG00000167173 68 0 0.00 30 9 23.08 - - - C3orf77 0 genome.wustl.edu 37 3 44285586 44285586 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 3 44285586 44285586 G A SNP C3orf77 ENST00000309765 human ensembl 69_37n +1 known missense c.1588 p.D530N 0.998 NULL NULL - no_errors C3orf77 HGNC ENSG00000173769 88 0 0.00 48 10 17.24 - - - C5orf60 0 genome.wustl.edu 37 5 179069426 179069426 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 5 179069426 179069426 C T SNP C5orf60 ENST00000448248 human ensembl 69_37n -1 known missense c.748 p.A250T 0.006 NULL NULL - no_errors C5orf60 HGNC ENSG00000204661 243 0 0.00 114 72 38.71 - - - CACNA1C 0 genome.wustl.edu 37 12 2705075 2705075 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 12 2705075 2705075 C T SNP CACNA1C ENST00000399634 human ensembl 69_37n +1 known missense c.2699 p.T900M 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 135 0 0.00 56 31 35.63 - - - CCDC111 0 genome.wustl.edu 37 4 185593491 185593491 + Nonsense_Mutation SNP G G T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 4 185593491 185593491 G T SNP CCDC111 ENST00000314970 human ensembl 69_37n +1 known nonsense c.721 p.E241* 0.003 pfam_DNA_primase_S pfam_DNA_primase_UL52/UL70_Herpvir,pfam_DNA_primase_S - no_errors CCDC111 HGNC ENSG00000164306 60 0 0.00 18 11 37.93 - - - CCDC144C 0 genome.wustl.edu 37 17 20224794 20224794 + RNA SNP A A G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 17 20224794 20224794 A G SNP CCDC144C ENST00000340196 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CCDC144C HGNC ENSG00000154898 104 1 0.95 52 8 13.33 - - - CCDC48 0 genome.wustl.edu 37 3 128758634 128758634 + Silent SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 3 128758634 128758634 C G SNP CCDC48 ENST00000436022 human ensembl 69_37n +1 known silent c.429 p.P143 0.000 NULL NULL - no_errors CCDC48 HGNC ENSG00000114654 38 0 0.00 14 13 48.15 - - - CCDC91 0 genome.wustl.edu 37 12 28603099 28603099 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 12 28603099 28603099 G C SNP CCDC91 ENST00000381259 human ensembl 69_37n +1 known missense c.768 p.Q256H 1.000 NULL NULL - no_errors CCDC91 HGNC ENSG00000123106 53 0 0.00 26 14 35.00 - - - CD1E 0 genome.wustl.edu 37 1 158326632 158326632 + Nonsense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 158326632 158326632 G A SNP CD1E ENST00000368167 human ensembl 69_37n +1 known nonsense c.1113 p.W371* 0.004 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1E HGNC ENSG00000158488 128 0 0.00 63 58 47.54 - - - CD200R1L 0 genome.wustl.edu 37 3 112546390 112546390 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 3 112546390 112546390 G A SNP CD200R1L ENST00000398214 human ensembl 69_37n -1 known missense c.254 p.T85I 0.000 NULL pfam_CD80_C2-set,pfscan_Ig-like - no_errors CD200R1L HGNC ENSG00000206531 330 0 0.00 299 88 22.68 - - - CD4 0 genome.wustl.edu 37 12 6923397 6923397 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 12 6923397 6923397 G A SNP CD4 ENST00000011653 human ensembl 69_37n +1 known missense c.304 p.E102K 0.000 pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 562 0 0.00 263 50 15.82 - - - CDK14 0 genome.wustl.edu 37 7 90492537 90492537 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 7 90492537 90492537 G A SNP CDK14 ENST00000380050 human ensembl 69_37n +1 known missense c.592 p.D198N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK14 HGNC ENSG00000058091 107 0 0.00 154 34 18.09 - - - CENPE 0 genome.wustl.edu 37 4 104064461 104064461 + Nonsense_Mutation SNP C C A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 4 104064461 104064461 C A SNP CENPE ENST00000265148 human ensembl 69_37n -1 known nonsense c.5248 p.E1750* 0.996 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 157 0 0.00 66 46 41.07 - - - CEP192 0 genome.wustl.edu 37 18 13099581 13099581 + Splice_Site SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 18 13099581 13099581 G A SNP CEP192 ENST00000506447 human ensembl 69_37n +1 known splice_site c.6663+1 e36+1 1.000 - - - no_errors CEP192 HGNC ENSG00000101639 256 0 0.00 164 28 14.58 - - - CHD2 0 genome.wustl.edu 37 15 93499827 93499827 + Nonsense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 15 93499827 93499827 C T SNP CHD2 ENST00000557381 human ensembl 69_37n +1 putative nonsense c.1948 p.Q650* 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 204 0 0.00 102 26 20.16 - - - CHST1 0 genome.wustl.edu 37 11 45671732 45671732 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 45671732 45671732 G A SNP CHST1 ENST00000308064 human ensembl 69_37n -1 known missense c.742 p.R248C 1.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 53 0 0.00 25 6 19.35 - - - CLEC4M 0 genome.wustl.edu 37 19 7832457 7832457 + Nonsense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 7832457 7832457 C G SNP CLEC4M ENST00000327325 human ensembl 69_37n +1 known nonsense c.992 p.S331* 0.007 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4M HGNC ENSG00000104938 285 0 0.00 150 21 12.21 - - - CLK4 0 genome.wustl.edu 37 5 178050303 178050303 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 5 178050303 178050303 C G SNP CLK4 ENST00000316308 human ensembl 69_37n -1 known missense c.115 p.E39Q 1.000 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 CLK4 HGNC ENSG00000113240 179 0 0.00 174 22 11.22 - - - CLN5 0 genome.wustl.edu 37 13 77574712 77574712 + Missense_Mutation SNP T T C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 13 77574712 77574712 T C SNP CLN5 ENST00000377453 human ensembl 69_37n +1 known missense c.832 p.Y278H 1.000 NULL NULL - no_errors CLN5 HGNC ENSG00000102805 111 0 0.00 65 24 26.97 - - - CNDP2 0 genome.wustl.edu 37 18 72178246 72178246 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 18 72178246 72178246 G C SNP CNDP2 ENST00000324262 human ensembl 69_37n +1 known missense c.655 p.E219Q 1.000 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP2 HGNC ENSG00000133313 120 0 0.00 40 5 11.11 - - - COQ6 0 genome.wustl.edu 37 14 74424951 74424951 + Missense_Mutation SNP G G T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 14 74424951 74424951 G T SNP COQ6 ENST00000334571 human ensembl 69_37n +1 known missense c.583 p.D195Y 1.000 pfam_mOase_FAD-bd,tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases pfam_mOase_FAD-bd,prints_Rng_hydrolase-like,tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases - no_errors COQ6 HGNC ENSG00000119723 106 0 0.00 43 13 23.21 - - - CORO1C 0 genome.wustl.edu 37 12 109072151 109072151 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 12 109072151 109072151 G C SNP CORO1C ENST00000420959 human ensembl 69_37n -1 known missense c.374 p.S125C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1C HGNC ENSG00000110880 310 0 0.00 414 124 22.92 - - - CPSF4 0 genome.wustl.edu 37 7 99049996 99049996 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 7 99049996 99049996 G A SNP CPSF4 ENST00000292476 human ensembl 69_37n +1 known missense c.503 p.R168Q 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors CPSF4 HGNC ENSG00000160917 61 0 0.00 27 29 51.79 - - - CRIM1 0 genome.wustl.edu 37 2 36668460 36668460 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 2 36668460 36668460 G A SNP CRIM1 ENST00000280527 human ensembl 69_37n +1 known missense c.565 p.E189K 1.000 NULL pfam_VWF_C,pfam_Prot_inh_I15_antistasin-like,superfamily_Prot_inh_I14/15_hirudin/antisn,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 228 0 0.00 151 45 22.84 - - - CSNK1A1L 0 genome.wustl.edu 37 13 37678900 37678900 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 13 37678900 37678900 C T SNP CSNK1A1L ENST00000379800 human ensembl 69_37n -1 known missense c.494 p.R165K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK1A1L HGNC ENSG00000180138 252 0 0.00 139 33 18.97 - - - CYFIP2 0 genome.wustl.edu 37 5 156746888 156746888 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 5 156746888 156746888 G A SNP CYFIP2 ENST00000318218 human ensembl 69_37n +1 known missense c.1475 p.R492H 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 196 0 0.00 93 22 18.97 - - - CYP26B1 0 genome.wustl.edu 37 2 72371232 72371233 + Frame_Shift_Ins INS - - C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 2 72371232 72371233 - C INS CYP26B1 ENST00000001146 human ensembl 69_37n -1 known frame_shift_ins c.315_314 p.I105fs 1.000:1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP26B1 HGNC ENSG00000003137 57 0 0.00 34 16 32.00 - - - DAK 0 genome.wustl.edu 37 11 61111640 61111640 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 61111640 61111640 G C SNP DAK ENST00000394900 human ensembl 69_37n +1 known missense c.1135 p.E379Q 0.963 superfamily_Dak2,tigrfam_DhaK_ATP pfam_Dak1,pfam_Dak2,superfamily_Dak2,tigrfam_DhaK_ATP - no_errors DAK HGNC ENSG00000149476 50 0 0.00 17 6 26.09 - - - DHX57 0 genome.wustl.edu 37 2 39053665 39053665 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 2 39053665 39053665 C G SNP DHX57 ENST00000295373 human ensembl 69_37n -1 known missense c.2806 p.E936Q 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 100 0 0.00 125 24 16.00 - - - DIAPH2 0 genome.wustl.edu 37 X 96369847 96369847 + Silent SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a X 96369847 96369847 G A SNP DIAPH2 ENST00000324765 human ensembl 69_37n +1 known silent c.2472 p.L824 0.996 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH2 HGNC ENSG00000147202 98 0 0.00 88 18 16.67 - - - DLGAP4 0 genome.wustl.edu 37 20 35128690 35128690 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 20 35128690 35128690 G A SNP DLGAP4 ENST00000339266 human ensembl 69_37n +1 known missense c.2188 p.E730K 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 98 0 0.00 44 44 50.00 - - - DNAH2 0 genome.wustl.edu 37 17 7734627 7734627 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 17 7734627 7734627 G C SNP DNAH2 ENST00000389173 human ensembl 69_37n +1 known missense c.12454 p.E4152Q 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 74 0 0.00 18 10 35.71 - - - DNHD1 0 genome.wustl.edu 37 11 6585612 6585612 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 6585612 6585612 C T SNP DNHD1 ENST00000254579 human ensembl 69_37n +1 known missense c.10334 p.S3445L 1.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 195 0 0.00 53 35 39.77 - - - DNM1P46 0 genome.wustl.edu 37 15 100340179 100340179 + RNA DEL G G - TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 15 100340179 100340179 G - DEL DNM1P46 ENST00000341853 human ensembl 69_37n -1 known rna NULL NULL 0.957 - - - no_errors DNM1P46 HGNC ENSG00000182397 12 0 0.00 9 4 30.77 - - - DOCK11 0 genome.wustl.edu 37 X 117752671 117752671 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a X 117752671 117752671 G A SNP DOCK11 ENST00000276202 human ensembl 69_37n +1 known missense c.3451 p.D1151N 1.000 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 51 0 0.00 44 23 33.82 - - - DPP3 0 genome.wustl.edu 37 11 66264824 66264824 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 66264824 66264824 G A SNP DPP3 ENST00000360510 human ensembl 69_37n +1 known missense c.1754 p.G585E 1.000 pirsf_Pept_49_dipeptidyl-pept-3_euk pirsf_Pept_49_dipeptidyl-pept-3_euk - no_errors DPP3 HGNC ENSG00000254986 51 0 0.00 12 30 71.43 - - - DTHD1 0 genome.wustl.edu 37 4 36310067 36310067 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 4 36310067 36310067 G A SNP DTHD1 ENST00000456874 human ensembl 69_37n +1 known missense c.1672 p.E558K 1.000 NULL pfam_Death,superfamily_DEATH-like,pfscan_Death - no_errors DTHD1 HGNC ENSG00000197057 122 0 0.00 94 11 10.48 - - - DUSP26 0 genome.wustl.edu 37 8 33449726 33449726 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 8 33449726 33449726 C G SNP DUSP26 ENST00000256261 human ensembl 69_37n -1 known missense c.441 p.K147N 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUSP26 HGNC ENSG00000133878 88 0 0.00 28 28 50.00 - - - EBF1 0 genome.wustl.edu 37 5 158135082 158135082 + Nonsense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 5 158135082 158135082 G C SNP EBF1 ENST00000313708 human ensembl 69_37n -1 known nonsense c.1649 p.S550* 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_HLH_DNA-bd,smart_IPT_TIG_rcpt - no_errors EBF1 HGNC ENSG00000164330 300 0 0.00 165 117 41.34 - - - EIF4B 0 genome.wustl.edu 37 12 53413733 53413733 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 12 53413733 53413733 G C SNP EIF4B ENST00000262056 human ensembl 69_37n +1 known missense c.400 p.E134Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4B HGNC ENSG00000063046 185 0 0.00 118 15 11.28 - - - ELANE 0 genome.wustl.edu 37 19 853386 853386 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 853386 853386 G A SNP ELANE ENST00000263621 human ensembl 69_37n +1 known missense c.349 p.D117N 0.978 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ELANE HGNC ENSG00000197561 15 0 0.00 6 4 40.00 - - - ELL 0 genome.wustl.edu 37 19 18576723 18576723 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 18576723 18576723 G C SNP ELL ENST00000262809 human ensembl 69_37n -1 known missense c.189 p.I63M 0.965 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 57 0 0.00 9 7 41.18 - - - EPB41L1 0 genome.wustl.edu 37 20 34807721 34807721 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 20 34807721 34807721 C T SNP EPB41L1 ENST00000451082 human ensembl 69_37n +1 novel missense c.677 p.P226L 1.000 pfam_Band_4.1_C pfam_Band_4.1_C,pfam_SAB - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EPB41L1 HGNC ENSG00000088367 302 0 0.00 133 97 42.17 - - - ERGIC3 0 genome.wustl.edu 37 20 34136356 34136357 + Frame_Shift_Ins INS - - A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 20 34136356 34136357 - A INS ERGIC3 ENST00000447986 human ensembl 69_37n +1 known frame_shift_ins c.556_557 p.G186fs 1.000:1.000 pfam_DUF1692 pfam_DUF1692 - no_errors ERGIC3 HGNC ENSG00000125991 104 0 0.00 90 49 35.25 - - - FAM161B 0 genome.wustl.edu 37 14 74412991 74412991 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 14 74412991 74412991 C T SNP FAM161B ENST00000286544 human ensembl 69_37n -1 known silent c.561 p.L187 0.006 NULL pfam_UPF0564 - no_errors FAM161B HGNC ENSG00000156050 112 0 0.00 33 18 35.29 - - - FAM171A1 0 genome.wustl.edu 37 10 15255199 15255199 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 10 15255199 15255199 C G SNP FAM171A1 ENST00000378116 human ensembl 69_37n -1 known missense c.2388 p.Q796H 0.526 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 59 0 0.00 26 10 27.78 - - - FAM171A1 0 genome.wustl.edu 37 10 15255691 15255691 + Missense_Mutation SNP C C A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 10 15255691 15255691 C A SNP FAM171A1 ENST00000378116 human ensembl 69_37n -1 known missense c.1896 p.Q632H 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 96 0 0.00 50 14 21.88 - - - FAM208A 0 genome.wustl.edu 37 3 56667593 56667593 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 3 56667593 56667593 C T SNP FAM208A ENST00000355628 human ensembl 69_37n -1 known missense c.3043 p.E1015K 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 102 0 0.00 23 13 36.11 - - - FAM47C 0 genome.wustl.edu 37 X 37026644 37026644 + Missense_Mutation SNP G G T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a X 37026644 37026644 G T SNP FAM47C ENST00000358047 human ensembl 69_37n +1 known missense c.161 p.G54V 0.002 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 301 0 0.00 119 56 32.00 - - - FAM71E2 0 genome.wustl.edu 37 19 55870549 55870549 + Missense_Mutation SNP C C A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 55870549 55870549 C A SNP FAM71E2 ENST00000424985 human ensembl 69_37n -1 novel missense c.1687 p.D563Y 0.000 NULL pfam_DUF3699 - no_errors FAM71E2 HGNC ENSG00000180043 29 0 0.00 7 5 41.67 - - - FBN1 0 genome.wustl.edu 37 15 48787333 48787333 + Silent SNP G G T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 15 48787333 48787333 G T SNP FBN1 ENST00000316623 human ensembl 69_37n -1 known silent c.2664 p.T888 0.008 pfam_TB_dom,superfamily_TB_dom,pirsf_Fibrillin pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 101 0 0.00 59 23 27.71 - - - FLG 0 genome.wustl.edu 37 1 152282641 152282641 + Nonsense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 152282641 152282641 G C SNP FLG ENST00000368799 human ensembl 69_37n -1 known nonsense c.4721 p.S1574* 0.002 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 170 0 0.00 100 33 24.44 - - - FLG 0 genome.wustl.edu 37 1 152282818 152282818 + Nonsense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 152282818 152282818 G C SNP FLG ENST00000368799 human ensembl 69_37n -1 known nonsense c.4544 p.S1515* 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 202 0 0.00 124 47 27.49 - - - FMO4 0 genome.wustl.edu 37 1 171306533 171306533 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 171306533 171306533 G C SNP FMO4 ENST00000367749 human ensembl 69_37n +1 known missense c.1219 p.E407Q 0.596 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 440 0 0.00 628 137 17.89 - - - FRYL 0 genome.wustl.edu 37 4 48597671 48597671 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 4 48597671 48597671 C T SNP FRYL ENST00000358350 human ensembl 69_37n -1 known missense c.1184 p.R395Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 78 0 0.00 106 34 24.29 - - - GBA3 0 genome.wustl.edu 37 4 22749339 22749339 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 4 22749339 22749339 C T SNP GBA3 ENST00000508166 human ensembl 69_37n +1 known missense c.707 p.S236L 0.658 NULL NULL - pseudogene GBA3 HGNC ENSG00000249948 199 0 0.00 127 19 13.01 - - - GHRL 0 genome.wustl.edu 37 3 10331475 10331475 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 3 10331475 10331475 C T SNP GHRL ENST00000335542 human ensembl 69_37n -1 known missense c.196 p.E66K 0.075 pfam_Motilin_assoc pfam_Motilin_assoc,pfam_Motilin_ghrelin,prints_Preproghrelin - no_errors GHRL HGNC ENSG00000157017 193 0 0.00 70 26 26.80 - - - GON4L 0 genome.wustl.edu 37 1 155783569 155783569 + Silent SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 155783569 155783569 G A SNP GON4L ENST00000368331 human ensembl 69_37n -1 known silent c.1308 p.I436 0.443 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 82 0 0.00 54 16 22.86 - - - GPATCH1 0 genome.wustl.edu 37 19 33602733 33602733 + Silent SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 33602733 33602733 G A SNP GPATCH1 ENST00000170564 human ensembl 69_37n +1 known silent c.1689 p.S563 0.481 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 56 0 0.00 20 32 61.54 - - - GPRC5A 0 genome.wustl.edu 37 12 13065406 13065406 + Missense_Mutation SNP C C A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 12 13065406 13065406 C A SNP GPRC5A ENST00000014914 human ensembl 69_37n +1 known missense c.1007 p.S336Y 1.000 NULL pfam_GPCR_3_C - no_errors GPRC5A HGNC ENSG00000013588 123 0 0.00 110 17 13.39 - - - GRIA4 0 genome.wustl.edu 37 11 105781241 105781241 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 105781241 105781241 G C SNP GRIA4 ENST00000282499 human ensembl 69_37n +1 known missense c.1239 p.E413D 0.998 NULL 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 GRIA4 HGNC ENSG00000152578 150 0 0.00 39 70 64.22 - - - GRM3 0 genome.wustl.edu 37 7 86415715 86415715 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 7 86415715 86415715 G C SNP GRM3 ENST00000361669 human ensembl 69_37n +1 known missense c.607 p.E203Q 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C - no_errors GRM3 HGNC ENSG00000198822 113 0 0.00 50 27 35.06 - - - GYPB 0 genome.wustl.edu 37 4 144922404 144922404 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 4 144922404 144922404 C T SNP GYPB ENST00000283126 human ensembl 69_37n -1 known missense c.70 p.E24K 0.020 pfam_Glycophorin pfam_Glycophorin - no_errors GYPB HGNC ENSG00000250361 372 0 0.00 303 50 14.04 - - - HEATR7A 0 genome.wustl.edu 37 8 145245695 145245695 + Frame_Shift_Del DEL C C - TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 8 145245695 145245695 C - DEL HEATR7A ENST00000326134 human ensembl 69_37n +1 known frame_shift_del c.571 p.R191fs 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors HEATR7A HGNC ENSG00000179832 42 0 0.00 20 11 35.48 - - - HIST1H2AJ 0 genome.wustl.edu 37 6 27782387 27782387 + Silent SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 6 27782387 27782387 G A SNP HIST1H2AJ ENST00000333151 human ensembl 69_37n -1 known silent c.132 p.V44 0.631 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AJ HGNC ENSG00000182611 95 0 0.00 25 11 30.56 - - - IFNA13 0 genome.wustl.edu 37 9 21367456 21367456 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 9 21367456 21367456 C T SNP IFNA13 ENST00000449498 human ensembl 69_37n -1 known missense c.554 p.R185K 0.045 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA13 HGNC ENSG00000233816 147 0 0.00 24 19 44.19 - - - INSC 0 genome.wustl.edu 37 11 15170708 15170708 + Silent SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 15170708 15170708 G A SNP INSC ENST00000379554 human ensembl 69_37n +1 known silent c.129 p.Q43 0.999 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors INSC HGNC ENSG00000188487 23 0 0.00 14 13 48.15 - - - INSL5 0 genome.wustl.edu 37 1 67263791 67263791 + Nonsense_Mutation SNP T T A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 67263791 67263791 T A SNP INSL5 ENST00000304526 human ensembl 69_37n -1 known nonsense c.313 p.K105* 0.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like - no_errors INSL5 HGNC ENSG00000172410 165 0 0.00 121 51 29.48 - - - INTS9 0 genome.wustl.edu 37 8 28627432 28627432 + Nonsense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 8 28627432 28627432 C T SNP INTS9 ENST00000517383 human ensembl 69_37n -1 novel nonsense c.195 p.W65* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region INTS9 HGNC ENSG00000104299 126 0 0.00 38 15 28.30 - - - INTU 0 genome.wustl.edu 37 4 128554244 128554244 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 4 128554244 128554244 G A SNP INTU ENST00000335251 human ensembl 69_37n +1 known missense c.55 p.D19N 0.021 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 88 0 0.00 25 24 48.00 - - - IQSEC2 0 genome.wustl.edu 37 X 53276287 53276287 + Silent SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a X 53276287 53276287 G A SNP IQSEC2 ENST00000396435 human ensembl 69_37n -1 known silent c.2613 p.L871 0.580 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC2 HGNC ENSG00000124313 199 1 0.50 74 21 22.11 - - - ITGAV 0 genome.wustl.edu 37 2 187511517 187511517 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 2 187511517 187511517 G A SNP ITGAV ENST00000261023 human ensembl 69_37n +1 known missense c.1264 p.E422K 0.486 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 193 0 0.00 90 35 28.00 - - - ITGB1BP2 0 genome.wustl.edu 37 X 70524437 70524437 + Missense_Mutation SNP C C A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a X 70524437 70524437 C A SNP ITGB1BP2 ENST00000373829 human ensembl 69_37n +1 known missense c.799 p.Q267K 1.000 pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain pfam_CHORD,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors ITGB1BP2 HGNC ENSG00000147166 341 0 0.00 200 80 28.47 - - - ITPR2 0 genome.wustl.edu 37 12 26551828 26551828 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 12 26551828 26551828 C T SNP ITPR2 ENST00000381340 human ensembl 69_37n -1 known silent c.7677 p.K2559 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 193 0 0.00 210 60 22.22 - - - ITPR2 0 genome.wustl.edu 37 12 26568266 26568266 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 12 26568266 26568266 C T SNP ITPR2 ENST00000381340 human ensembl 69_37n -1 known missense c.7276 p.D2426N 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 155 0 0.00 120 46 27.71 - - - KCTD3 0 genome.wustl.edu 37 1 215785242 215785242 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 215785242 215785242 G C SNP KCTD3 ENST00000259154 human ensembl 69_37n +1 known missense c.1541 p.R514T 0.997 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 81 0 0.00 260 42 13.86 - - - KDM4E 0 genome.wustl.edu 37 11 94758974 94758974 + Nonsense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 94758974 94758974 C T SNP KDM4E ENST00000450979 human ensembl 69_37n +1 known nonsense c.253 p.Q85* 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC ENSG00000235268 63 0 0.00 14 17 54.84 - - - KIAA0182 0 genome.wustl.edu 37 16 85699765 85699765 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 16 85699765 85699765 G A SNP KIAA0182 ENST00000253458 human ensembl 69_37n +1 known missense c.2942 p.G981E 0.012 NULL pfam_DUF3736 - no_errors KIAA0182 HGNC ENSG00000131149 24 0 0.00 1 9 90.00 - - - KIAA1033 0 genome.wustl.edu 37 12 105531752 105531752 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 12 105531752 105531752 C T SNP KIAA1033 ENST00000332180 human ensembl 69_37n +1 known missense c.1415 p.S472L 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 70 0 0.00 114 26 18.44 - - - KIAA1279 0 genome.wustl.edu 37 10 70776092 70776092 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 10 70776092 70776092 G C SNP KIAA1279 ENST00000361983 human ensembl 69_37n +1 known missense c.1786 p.E596Q 1.000 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 140 0 0.00 67 51 43.22 - - - KIF1B 0 genome.wustl.edu 37 1 10412697 10412697 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 10412697 10412697 C T SNP KIF1B ENST00000263934 human ensembl 69_37n +1 known missense c.3820 p.R1274W 0.998 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 390 1 0.26 264 98 27.07 - - - KRT222 0 genome.wustl.edu 37 17 38816288 38816288 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 17 38816288 38816288 C T SNP KRT222 ENST00000394052 human ensembl 69_37n -1 known missense c.397 p.E133K 1.000 pfam_F pfam_F,prints_Keratin_I - no_errors KRT222 HGNC ENSG00000213424 306 0 0.00 27 99 78.57 - - - LANCL1 0 genome.wustl.edu 37 2 211301071 211301071 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 2 211301071 211301071 C T SNP LANCL1 ENST00000233714 human ensembl 69_37n -1 known missense c.919 p.D307N 0.998 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL1 HGNC ENSG00000115365 131 0 0.00 45 24 34.78 - - - LTK 0 genome.wustl.edu 37 15 41797650 41797650 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 15 41797650 41797650 C T SNP LTK ENST00000263800 human ensembl 69_37n -1 known silent c.1776 p.L592 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LTK HGNC ENSG00000062524 92 0 0.00 34 14 29.17 - - - LUC7L2 0 genome.wustl.edu 37 7 139094321 139094321 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 7 139094321 139094321 G A SNP LUC7L2 ENST00000541515 human ensembl 69_37n +1 known missense c.898 p.E300K 1.000 pfam_LUC7-rel pfam_LUC7-rel - no_errors LUC7L2 HGNC ENSG00000146963 53 0 0.00 53 24 30.77 - - - LYPD5 0 genome.wustl.edu 37 19 44302730 44302730 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 44302730 44302730 C T SNP LYPD5 ENST00000377950 human ensembl 69_37n -1 known missense c.394 p.G132S 1.000 NULL pfam_LY6_UPAR - no_errors LYPD5 HGNC ENSG00000159871 158 0 0.00 61 25 28.74 - - - MAB21L2 0 genome.wustl.edu 37 4 151504703 151504703 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 4 151504703 151504703 C G SNP MAB21L2 ENST00000317605 human ensembl 69_37n +1 known missense c.522 p.F174L 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 91 0 0.00 10 11 50.00 - - - MAB21L2 0 genome.wustl.edu 37 4 151504936 151504936 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 4 151504936 151504936 C T SNP MAB21L2 ENST00000317605 human ensembl 69_37n +1 known missense c.755 p.S252L 1.000 pfam_Mab-21_dom,pfscan_Ricin_B_lectin pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 74 0 0.00 14 12 46.15 - - - MAP2 0 genome.wustl.edu 37 2 210559707 210559707 + Missense_Mutation SNP A A G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 2 210559707 210559707 A G SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known missense c.2813 p.H938R 0.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 139 0 0.00 63 32 33.68 - - - MEI1 0 genome.wustl.edu 37 22 42174744 42174744 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 22 42174744 42174744 C T SNP MEI1 ENST00000401548 human ensembl 69_37n +1 known missense c.2743 p.L915F 1.000 NULL superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 108 0 0.00 26 10 27.78 - - - METTL21C 0 genome.wustl.edu 37 13 103343293 103343293 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 13 103343293 103343293 G C SNP METTL21C ENST00000267273 human ensembl 69_37n -1 known missense c.152 p.S51C 0.571 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21C HGNC ENSG00000139780 137 0 0.00 50 51 50.00 - - - MIER1 0 genome.wustl.edu 37 1 67450308 67450308 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 67450308 67450308 G C SNP MIER1 ENST00000401041 human ensembl 69_37n +1 known missense c.1423 p.E475Q 0.995 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC ENSG00000198160 47 0 0.00 39 7 15.22 - - - MLLT10 0 genome.wustl.edu 37 10 21962492 21962492 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 10 21962492 21962492 C T SNP MLLT10 ENST00000307729 human ensembl 69_37n +1 known missense c.1265 p.S422L 0.997 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 171 0 0.00 149 107 41.80 - - - MUC12 0 genome.wustl.edu 37 7 100645498 100645499 + Frame_Shift_Ins INS - - CA TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 7 100645498 100645499 - CA INS MUC12 ENST00000379442 human ensembl 69_37n +1 known frame_shift_ins c.12083_12084 p.S4029fs 0.020:0.029 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 57 0 0.00 16 2 11.11 - - - MYCBP2 0 genome.wustl.edu 37 13 77651360 77651360 + Nonsense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 13 77651360 77651360 G A SNP MYCBP2 ENST00000407578 human ensembl 69_37n -1 known nonsense c.11647 p.Q3883* 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 186 0 0.00 97 36 27.07 - - - MYO5A 0 genome.wustl.edu 37 15 52662392 52662392 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 15 52662392 52662392 C G SNP MYO5A ENST00000358212 human ensembl 69_37n -1 known missense c.3040 p.D1014H 0.985 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 244 0 0.00 91 97 51.60 - - - NARG2 0 genome.wustl.edu 37 15 60741569 60741569 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 15 60741569 60741569 C G SNP NARG2 ENST00000261520 human ensembl 69_37n -1 known missense c.1597 p.D533H 0.000 NULL pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 70 0 0.00 66 16 19.51 - - - NAV1 0 genome.wustl.edu 37 1 201751421 201751421 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 201751421 201751421 C T SNP NAV1 ENST00000367296 human ensembl 69_37n +1 known missense c.1781 p.S594L 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 207 0 0.00 147 30 16.85 - - - NDUFV2 0 genome.wustl.edu 37 18 9122601 9122601 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 18 9122601 9122601 C G SNP NDUFV2 ENST00000318388 human ensembl 69_37n +1 known missense c.391 p.H131D 1.000 pfam_NADH_UbQ_OxRdtase_24kDa_su,superfamily_Thioredoxin-like_fold,tigrfam_NADH_UbQ_OxRdtase_24kDa_su pfam_NADH_UbQ_OxRdtase_24kDa_su,superfamily_Thioredoxin-like_fold,tigrfam_NADH_UbQ_OxRdtase_24kDa_su - no_errors NDUFV2 HGNC ENSG00000178127 134 1 0.74 65 27 29.35 - - - NHSL2 0 genome.wustl.edu 37 X 71358848 71358848 + Missense_Mutation SNP C C A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a X 71358848 71358848 C A SNP NHSL2 ENST00000540800 human ensembl 69_37n +1 known missense c.1450 p.L484M 0.990 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 79 0 0.00 21 9 30.00 - - - NIN 0 genome.wustl.edu 37 14 51223742 51223742 + Nonsense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 14 51223742 51223742 G A SNP NIN ENST00000245441 human ensembl 69_37n -1 known nonsense c.4006 p.Q1336* 0.607 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC ENSG00000100503 199 1 0.50 119 23 16.20 - - - NLRC3 0 genome.wustl.edu 37 16 3592723 3592723 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 16 3592723 3592723 G C SNP NLRC3 ENST00000448023 human ensembl 69_37n -1 known missense c.3130 p.L1044V 0.984 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 105 0 0.00 54 15 21.74 - - - NR2C2 0 genome.wustl.edu 37 3 15055260 15055260 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 3 15055260 15055260 C T SNP NR2C2 ENST00000323373 human ensembl 69_37n +1 known silent c.294 p.F98 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 177 0 0.00 234 182 43.65 - - - OFD1 0 genome.wustl.edu 37 X 13785326 13785326 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a X 13785326 13785326 G C SNP OFD1 ENST00000340096 human ensembl 69_37n +1 known missense c.2680 p.E894Q 0.914 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 577 0 0.00 906 133 12.75 - - - OR2J2 0 genome.wustl.edu 37 6 29141422 29141422 + Frame_Shift_Del DEL A A - TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 6 29141422 29141422 A - DEL OR2J2 ENST00000377167 human ensembl 69_37n +1 known frame_shift_del c.10 p.N6fs 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2J2 HGNC ENSG00000204700 110 0 0.00 100 26 20.16 - - - OR4K14 0 genome.wustl.edu 37 14 20483041 20483041 + Missense_Mutation SNP G G T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 14 20483041 20483041 G T SNP OR4K14 ENST00000305045 human ensembl 69_37n -1 known missense c.312 p.F104L 0.846 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4K14 HGNC ENSG00000169484 94 0 0.00 69 10 12.66 - - - OSBP2 0 genome.wustl.edu 37 22 31289974 31289974 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 22 31289974 31289974 G A SNP OSBP2 ENST00000431368 human ensembl 69_37n +1 novel missense c.1376 p.R459K 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region OSBP2 HGNC ENSG00000184792 59 0 0.00 14 25 64.10 - - - P2RX2 0 genome.wustl.edu 37 12 133198305 133198305 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 12 133198305 133198305 C T SNP P2RX2 ENST00000343948 human ensembl 69_37n +1 known missense c.1241 p.S414L 0.003 NULL pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC ENSG00000187848 53 0 0.00 15 4 21.05 - - - PAAF1 0 genome.wustl.edu 37 11 73611344 73611344 + Silent SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 73611344 73611344 G A SNP PAAF1 ENST00000310571 human ensembl 69_37n +1 known silent c.411 p.V137 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAAF1 HGNC ENSG00000175575 239 0 0.00 162 37 18.59 - - - PABPC3 0 genome.wustl.edu 37 13 25671591 25671591 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 13 25671591 25671591 C G SNP PABPC3 ENST00000281589 human ensembl 69_37n +1 known missense c.1255 p.P419A 0.982 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 262 0 0.00 146 25 14.62 - - - PACS1 0 genome.wustl.edu 37 11 66006688 66006688 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 66006688 66006688 G A SNP PACS1 ENST00000320580 human ensembl 69_37n +1 known missense c.2369 p.R790Q 1.000 pfam_Phosphofurin_acidic_CS-1 pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC ENSG00000175115 159 0 0.00 92 11 10.68 - - - PARP4 0 genome.wustl.edu 37 13 25064849 25064849 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 13 25064849 25064849 C T SNP PARP4 ENST00000381989 human ensembl 69_37n -1 known missense c.1171 p.E391K 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 154 0 0.00 128 64 33.33 - - - PCDHA4 0 genome.wustl.edu 37 5 140186860 140186860 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 5 140186860 140186860 C G SNP PCDHA4 ENST00000530339 human ensembl 69_37n +1 known missense c.88 p.Q30E 0.998 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 58 0 0.00 37 14 27.45 - - - PCDHA4 0 genome.wustl.edu 37 5 140187308 140187308 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 5 140187308 140187308 C T SNP PCDHA4 ENST00000530339 human ensembl 69_37n +1 known missense c.536 p.S179F 0.033 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 72 0 0.00 31 7 17.95 - - - PCDHA4 0 genome.wustl.edu 37 5 140188699 140188699 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 5 140188699 140188699 C G SNP PCDHA4 ENST00000530339 human ensembl 69_37n +1 known missense c.1927 p.P643A 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 83 0 0.00 61 14 18.67 - - - PCDHA4 0 genome.wustl.edu 37 5 140188700 140188700 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 5 140188700 140188700 C T SNP PCDHA4 ENST00000530339 human ensembl 69_37n +1 known missense c.1928 p.P643L 0.005 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 83 0 0.00 59 14 18.92 - - - PCLO 0 genome.wustl.edu 37 7 82390716 82390716 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 7 82390716 82390716 C T SNP PCLO ENST00000333891 human ensembl 69_37n -1 known missense c.15101 p.R5034K 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 139 0 0.00 177 46 20.54 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 77 0 0.00 53 48 45.71 - - - PIK3R1 0 genome.wustl.edu 37 5 67586647 67586647 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 5 67586647 67586647 G C SNP PIK3R1 ENST00000336483 human ensembl 69_37n +1 known missense c.91 p.E31Q 1.000 NULL pfam_SH2,superfamily_Guanylate-bd_C,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 105 0 0.00 60 14 18.67 - - - PLCL2 0 genome.wustl.edu 37 3 17109478 17109478 + Missense_Mutation SNP T T C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 3 17109478 17109478 T C SNP PLCL2 ENST00000418129 human ensembl 69_37n +1 known missense c.2747 p.I916T 0.997 NULL 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_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,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 PLCL2 HGNC ENSG00000154822 81 0 0.00 50 31 38.27 - - - PLS3 0 genome.wustl.edu 37 X 114868366 114868366 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a X 114868366 114868366 G C SNP PLS3 ENST00000355899 human ensembl 69_37n +1 known missense c.555 p.K185N 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS3 HGNC ENSG00000102024 166 0 0.00 106 37 25.87 - - - PLS3 0 genome.wustl.edu 37 X 114869259 114869259 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a X 114869259 114869259 G A SNP PLS3 ENST00000355899 human ensembl 69_37n +1 known missense c.649 p.E217K 0.987 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS3 HGNC ENSG00000102024 195 0 0.00 121 42 25.77 - - - PLXNA4 0 genome.wustl.edu 37 7 131925880 131925880 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 7 131925880 131925880 C T SNP PLXNA4 ENST00000321063 human ensembl 69_37n -1 known missense c.1549 p.G517S 0.997 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC ENSG00000221866 210 1 0.47 102 100 49.02 - - - PREP 0 genome.wustl.edu 37 6 105726196 105726196 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 6 105726196 105726196 G C SNP PREP ENST00000369110 human ensembl 69_37n -1 known missense c.1956 p.F652L 1.000 pfam_Peptidase_S9,prints_Peptidase_S9A pfam_Peptidase_S9A_B_C_N,pfam_Peptidase_S9,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 250 0 0.00 20 84 80.00 - - - PTPN22 0 genome.wustl.edu 37 1 114376945 114376945 + Missense_Mutation SNP G G T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 114376945 114376945 G T SNP PTPN22 ENST00000359785 human ensembl 69_37n -1 known missense c.2011 p.L671I 0.988 pirsf_Non-rcpt_Tyr_Pase_8/22 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC ENSG00000134242 104 0 0.00 63 48 42.86 - - - RAB36 0 genome.wustl.edu 37 22 23503156 23503156 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 22 23503156 23503156 G A SNP RAB36 ENST00000263116 human ensembl 69_37n +1 known missense c.908 p.R303Q 0.004 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB36 HGNC ENSG00000100228 34 0 0.00 6 11 64.71 - - - RBM42 0 genome.wustl.edu 37 19 36124592 36124592 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 36124592 36124592 G C SNP RBM42 ENST00000262633 human ensembl 69_37n +1 known missense c.688 p.E230Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 130 0 0.00 33 13 28.26 - - - RBM44 0 genome.wustl.edu 37 2 238726892 238726892 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 2 238726892 238726892 C T SNP RBM44 ENST00000316997 human ensembl 69_37n +1 known missense c.1333 p.H445Y 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 34 0 0.00 35 11 23.40 - - - RCBTB2 0 genome.wustl.edu 37 13 49086299 49086299 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 13 49086299 49086299 C G SNP RCBTB2 ENST00000430805 human ensembl 69_37n -1 known missense c.543 p.W181C 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens 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 168 0 0.00 73 28 27.45 - - - REP15 0 genome.wustl.edu 37 12 27850132 27850132 + Nonsense_Mutation SNP G G T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 12 27850132 27850132 G T SNP REP15 ENST00000310791 human ensembl 69_37n +1 known nonsense c.637 p.E213* 0.998 NULL NULL - no_errors REP15 HGNC ENSG00000174236 144 0 0.00 98 36 26.87 - - - RORC 0 genome.wustl.edu 37 1 151787669 151787669 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 151787669 151787669 C T SNP RORC ENST00000392697 human ensembl 69_37n -1 known silent c.693 p.L231 0.084 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORC HGNC ENSG00000143365 85 0 0.00 23 12 34.29 - - - RPL36 0 genome.wustl.edu 37 19 5691557 5691557 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 5691557 5691557 C G SNP RPL36 ENST00000347512 human ensembl 69_37n +1 known missense c.243 p.I81M 1.000 pfam_Ribosomal_L36e pfam_Ribosomal_L36e - no_errors RPL36 HGNC ENSG00000130255 33 0 0.00 3 10 76.92 - - - RPS6KB2 0 genome.wustl.edu 37 11 67202530 67202530 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 67202530 67202530 C G SNP RPS6KB2 ENST00000312629 human ensembl 69_37n +1 known missense c.1339 p.L447V 0.870 pirsf_Ribosomal_S6_kinase pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom - no_errors RPS6KB2 HGNC ENSG00000175634 23 0 0.00 4 11 73.33 - - - RRP9 0 genome.wustl.edu 37 3 51969486 51969487 + Frame_Shift_Ins INS - - GG TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 3 51969486 51969487 - GG INS RRP9 ENST00000232888 human ensembl 69_37n -1 known frame_shift_ins c.843_842 p.Q283fs 0.981:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RRP9 HGNC ENSG00000114767 242 0 0.00 73 78 51.66 - - - SAGE1 0 genome.wustl.edu 37 X 134994976 134994976 + Missense_Mutation SNP A A T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a X 134994976 134994976 A T SNP SAGE1 ENST00000324447 human ensembl 69_37n +1 known missense c.2635 p.I879F 0.985 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 54 0 0.00 34 19 35.85 - - - SCRN1 0 genome.wustl.edu 37 7 29963714 29963714 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 7 29963714 29963714 C T SNP SCRN1 ENST00000434476 human ensembl 69_37n -1 known silent c.1164 p.L388 0.998 NULL pfam_Peptidase_C69 - no_errors SCRN1 HGNC ENSG00000136193 49 0 0.00 38 11 22.45 - - - SCUBE2 0 genome.wustl.edu 37 11 9088307 9088307 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 9088307 9088307 C T SNP SCUBE2 ENST00000457346 human ensembl 69_37n -1 known missense c.697 p.D233N 0.044 smart_EGF-like_Ca-bd,smart_EGF-like pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 101 0 0.00 45 12 21.05 - - - SETBP1 0 genome.wustl.edu 37 18 42533287 42533287 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 18 42533287 42533287 G A SNP SETBP1 ENST00000282030 human ensembl 69_37n +1 known missense c.3982 p.D1328N 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 225 0 0.00 143 36 20.11 - - - SETDB1 0 genome.wustl.edu 37 1 150921914 150921914 + Missense_Mutation SNP C C A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 150921914 150921914 C A SNP SETDB1 ENST00000271640 human ensembl 69_37n +1 known missense c.1493 p.S498Y 1.000 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 217 0 0.00 128 35 21.47 - - - SEZ6 0 genome.wustl.edu 37 17 27308921 27308921 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 17 27308921 27308921 C T SNP SEZ6 ENST00000317338 human ensembl 69_37n -1 known silent c.192 p.L64 1.000 NULL pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 211 0 0.00 54 18 25.00 - - - SH2D3A 0 genome.wustl.edu 37 19 6754088 6754088 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 6754088 6754088 C T SNP SH2D3A ENST00000245908 human ensembl 69_37n -1 known silent c.1359 p.L453 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC ENSG00000125731 74 0 0.00 44 11 20.00 - - - SHANK2 0 genome.wustl.edu 37 11 70805676 70805676 + Nonsense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 70805676 70805676 G C SNP SHANK2 ENST00000458632 human ensembl 69_37n -1 novel nonsense c.59 p.S20* 0.995 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SHANK2 HGNC ENSG00000162105 136 0 0.00 68 45 39.82 - - - SIK3 0 genome.wustl.edu 37 11 116730052 116730052 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 116730052 116730052 C T SNP SIK3 ENST00000445177 human ensembl 69_37n -1 novel missense c.2674 p.D892N 0.976 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SIK3 HGNC ENSG00000160584 127 0 0.00 17 36 67.92 - - - SIPA1L3 0 genome.wustl.edu 37 19 38655162 38655162 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 38655162 38655162 C G SNP SIPA1L3 ENST00000222345 human ensembl 69_37n +1 known missense c.3824 p.S1275C 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC ENSG00000105738 81 0 0.00 21 13 38.24 - - - SLC41A1 0 genome.wustl.edu 37 1 205767101 205767101 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 205767101 205767101 C T SNP SLC41A1 ENST00000367137 human ensembl 69_37n -1 known missense c.923 p.R308Q 1.000 NULL pfam_MgtE_Mg_transptr_membr - no_errors SLC41A1 HGNC ENSG00000133065 130 1 0.76 123 24 16.22 - - - SLC44A1 0 genome.wustl.edu 37 9 108123558 108123558 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 9 108123558 108123558 G C SNP SLC44A1 ENST00000374720 human ensembl 69_37n +1 known missense c.847 p.E283Q 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 125 0 0.00 50 15 23.08 - - - SLC4A5 0 genome.wustl.edu 37 2 74462323 74462323 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 2 74462323 74462323 C T SNP SLC4A5 ENST00000357822 human ensembl 69_37n -1 known missense c.2338 p.D780N 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 275 0 0.00 198 54 21.43 - - - SLC4A7 0 genome.wustl.edu 37 3 27424666 27424666 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 3 27424666 27424666 G C SNP SLC4A7 ENST00000454389 human ensembl 69_37n -1 known missense c.3568 p.P1190A 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 81 0 0.00 55 55 50.00 - - - SLC4A9 0 genome.wustl.edu 37 5 139743671 139743672 + Frame_Shift_Ins INS - - T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 5 139743671 139743672 - T INS SLC4A9 ENST00000230993 human ensembl 69_37n +1 known frame_shift_ins c.1359_1360 p.A453fs 0.004:0.006 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 88 0 0.00 44 26 37.14 - - - SLC4A9 0 genome.wustl.edu 37 5 139743675 139743676 + Frame_Shift_Ins INS - - GT TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 5 139743675 139743676 - GT INS SLC4A9 ENST00000230993 human ensembl 69_37n +1 known frame_shift_ins c.1363_1364 p.A456fs 1.000:1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 91 0 0.00 45 26 36.62 - - - SLFN14 0 genome.wustl.edu 37 17 33885048 33885048 + Missense_Mutation SNP A A G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 17 33885048 33885048 A G SNP SLFN14 ENST00000415846 human ensembl 69_37n -1 known missense c.34 p.Y12H 0.011 NULL pfam_ATPase_AAA-4 - no_errors SLFN14 HGNC ENSG00000236320 79 0 0.00 8 28 77.78 - - - SMG7 0 genome.wustl.edu 37 1 183511387 183511387 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 183511387 183511387 G A SNP SMG7 ENST00000507469 human ensembl 69_37n +1 known missense c.1592 p.R531Q 0.999 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 91 0 0.00 147 33 18.23 - - - SNF8 0 genome.wustl.edu 37 17 47022045 47022045 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 17 47022045 47022045 C G SNP SNF8 ENST00000502492 human ensembl 69_37n -1 known missense c.52 p.E18Q 1.000 pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8 pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8 - no_errors SNF8 HGNC ENSG00000159210 49 0 0.00 36 5 12.20 - - - SPAG6 0 genome.wustl.edu 37 10 22678164 22678164 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 10 22678164 22678164 C T SNP SPAG6 ENST00000376603 human ensembl 69_37n +1 known missense c.1156 p.R386W 0.127 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 199 0 0.00 129 115 46.94 - - - SPEF2 0 genome.wustl.edu 37 5 35814583 35814583 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 5 35814583 35814583 C T SNP SPEF2 ENST00000356031 human ensembl 69_37n +1 known silent c.5397 p.L1799 0.993 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 96 0 0.00 156 32 17.02 - - - SPIB 0 genome.wustl.edu 37 19 50931497 50931497 + Silent SNP C C A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 50931497 50931497 C A SNP SPIB ENST00000270632 human ensembl 69_37n +1 known silent c.693 p.L231 1.000 pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors SPIB HGNC ENSG00000142539 46 0 0.00 14 8 36.36 - - - SPIN2A 0 genome.wustl.edu 37 X 57162736 57162736 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a X 57162736 57162736 G A SNP SPIN2A ENST00000374906 human ensembl 69_37n -1 known missense c.295 p.H99Y 1.000 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN2A HGNC ENSG00000147059 74 0 0.00 61 22 26.51 - - - SRGAP1 0 genome.wustl.edu 37 12 64488742 64488742 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 12 64488742 64488742 G A SNP SRGAP1 ENST00000355086 human ensembl 69_37n +1 known missense c.1570 p.E524K 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 106 0 0.00 106 36 25.35 - - - SVEP1 0 genome.wustl.edu 37 9 113168448 113168448 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 9 113168448 113168448 C T SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known silent c.9432 p.V3144 0.853 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 48 0 0.00 4 20 80.00 - - - SYCE3 0 genome.wustl.edu 37 22 50989788 50989788 + Silent SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 22 50989788 50989788 G A SNP SYCE3 ENST00000402753 human ensembl 69_37n -1 putative silent c.153 p.T51 1.000 NULL NULL - no_errors SYCE3 HGNC ENSG00000217442 17 0 0.00 14 9 39.13 - - - SYCE3 0 genome.wustl.edu 37 22 50989789 50989789 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 22 50989789 50989789 G C SNP SYCE3 ENST00000402753 human ensembl 69_37n -1 putative missense c.152 p.T51S 1.000 NULL NULL - no_errors SYCE3 HGNC ENSG00000217442 17 0 0.00 14 7 33.33 - - - TAAR5 0 genome.wustl.edu 37 6 132910300 132910300 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 6 132910300 132910300 C G SNP TAAR5 ENST00000258034 human ensembl 69_37n -1 known missense c.526 p.E176Q 0.101 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR5 HGNC ENSG00000135569 169 0 0.00 50 93 65.03 - - - TGS1 0 genome.wustl.edu 37 8 56699303 56699303 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 8 56699303 56699303 G C SNP TGS1 ENST00000260129 human ensembl 69_37n +1 known missense c.846 p.K282N 0.060 NULL pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 132 0 0.00 108 20 15.62 - - - TIMM22 0 genome.wustl.edu 37 17 904307 904307 + Silent SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 17 904307 904307 G C SNP TIMM22 ENST00000327158 human ensembl 69_37n +1 known silent c.564 p.A188 0.970 pfam_Tim17/Tim22/Tim23/PMP24 pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMM22 HGNC ENSG00000177370 122 0 0.00 56 25 30.86 - - - TLN1 0 genome.wustl.edu 37 9 35720063 35720063 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 9 35720063 35720063 C G SNP TLN1 ENST00000314888 human ensembl 69_37n -1 known missense c.1437 p.Q479H 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 227 0 0.00 15 86 85.15 - - - TM9SF3 0 genome.wustl.edu 37 10 98311022 98311022 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 10 98311022 98311022 C T SNP TM9SF3 ENST00000371142 human ensembl 69_37n -1 known missense c.939 p.M313I 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 225 1 0.44 114 56 32.75 - - - TMCO4 0 genome.wustl.edu 37 1 20097810 20097810 + Silent SNP C C A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 20097810 20097810 C A SNP TMCO4 ENST00000294543 human ensembl 69_37n -1 known silent c.345 p.V115 0.043 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 104 0 0.00 61 14 18.67 - - - TMEM63B 0 genome.wustl.edu 37 6 44122458 44122458 + Frame_Shift_Del DEL A A - TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 6 44122458 44122458 A - DEL TMEM63B ENST00000259746 human ensembl 69_37n +1 known frame_shift_del c.2337 p.E780fs 1.000 NULL pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 55 0 0.00 4 11 73.33 - - - TMEM63B 0 genome.wustl.edu 37 6 44122461 44122461 + Frame_Shift_Del DEL G G - TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 6 44122461 44122461 G - DEL TMEM63B ENST00000259746 human ensembl 69_37n +1 known frame_shift_del c.2340 p.V781fs 0.960 NULL pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 50 0 0.00 4 11 73.33 - - - TNIP2 0 genome.wustl.edu 37 4 2747221 2747221 + Silent SNP A A T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 4 2747221 2747221 A T SNP TNIP2 ENST00000315423 human ensembl 69_37n -1 known silent c.609 p.I203 0.000 NULL pfam_EABR - no_errors TNIP2 HGNC ENSG00000168884 194 0 0.00 88 26 22.61 - - - TOE1 0 genome.wustl.edu 37 1 45807208 45807208 + Silent SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 45807208 45807208 G A SNP TOE1 ENST00000372090 human ensembl 69_37n +1 known silent c.300 p.L100 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,pfam_Znf_CCCH,superfamily_RNaseH-like_dom - no_errors TOE1 HGNC ENSG00000132773 128 0 0.00 46 19 29.23 - - - TOPORS 0 genome.wustl.edu 37 9 32543678 32543678 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 9 32543678 32543678 G A SNP TOPORS ENST00000360538 human ensembl 69_37n -1 known missense c.845 p.S282L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 49 0 0.00 2 26 92.86 - - - TP53 0 genome.wustl.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 17 7577568 7577568 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.713 p.C238Y 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 232 0 0.00 23 76 76.77 - - - TRIM71 0 genome.wustl.edu 37 3 32932211 32932211 + Missense_Mutation SNP C C A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 3 32932211 32932211 C A SNP TRIM71 ENST00000383763 human ensembl 69_37n +1 known missense c.1515 p.F505L 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 47 0 0.00 38 6 13.64 - - - TRMT2A 0 genome.wustl.edu 37 22 20102205 20102205 + Splice_Site SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 22 20102205 20102205 C G SNP TRMT2A ENST00000492988 human ensembl 69_37n -1 known splice_site c.NULL NULL 1.000 - - - no_errors TRMT2A HGNC ENSG00000099899 40 0 0.00 14 8 36.36 - - - TRPM8 0 genome.wustl.edu 37 2 234891970 234891970 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 2 234891970 234891970 C T SNP TRPM8 ENST00000439148 human ensembl 69_37n +1 known missense c.382 p.R128C 0.000 NULL pfam_Ion_trans_dom - no_start_codon TRPM8 HGNC ENSG00000144481 74 0 0.00 16 8 33.33 - - - TRPV2 0 genome.wustl.edu 37 17 16327010 16327010 + Nonsense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 17 16327010 16327010 C T SNP TRPV2 ENST00000338560 human ensembl 69_37n +1 known nonsense c.853 p.Q285* 0.557 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 100 0 0.00 43 14 24.56 - - - TSHZ1 0 genome.wustl.edu 37 18 72998610 72998610 + Silent SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 18 72998610 72998610 C G SNP TSHZ1 ENST00000580243 human ensembl 69_37n +1 known silent c.1248 p.L416 1.000 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 141 0 0.00 30 15 33.33 - - - TTC21A 0 genome.wustl.edu 37 3 39156150 39156150 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 3 39156150 39156150 G A SNP TTC21A ENST00000431559 human ensembl 69_37n +1 known missense c.232 p.E78K 0.000 NULL NULL - no_errors TTC21A HGNC ENSG00000168026 93 0 0.00 42 13 23.64 - - - UGT1A1 0 genome.wustl.edu 37 2 234669446 234669446 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 2 234669446 234669446 C T SNP UGT1A1 ENST00000305208 human ensembl 69_37n +1 known silent c.513 p.F171 0.481 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A1 HGNC ENSG00000241635 134 0 0.00 52 19 26.76 - - - XPC 0 genome.wustl.edu 37 3 14190368 14190368 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 3 14190368 14190368 C T SNP XPC ENST00000285021 human ensembl 69_37n -1 known silent c.2196 p.L732 0.997 pfam_Rad4_beta-hairpin_dom2,tigrfam_DNA_repair_Rad4_subgr pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 218 0 0.00 78 18 18.75 - - - ZBTB16 0 genome.wustl.edu 37 11 113935256 113935256 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 113935256 113935256 G A SNP ZBTB16 ENST00000335953 human ensembl 69_37n +1 known missense c.1234 p.E412K 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 102 0 0.00 6 13 68.42 - - - ZBTB3 0 genome.wustl.edu 37 11 62520830 62520830 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 11 62520830 62520830 C T SNP ZBTB3 ENST00000394807 human ensembl 69_37n -1 known missense c.457 p.A153T 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB3 HGNC ENSG00000185670 61 0 0.00 25 12 32.43 - - - ZBTB49 0 genome.wustl.edu 37 4 4301738 4301738 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 4 4301738 4301738 C T SNP ZBTB49 ENST00000337872 human ensembl 69_37n +1 known silent c.66 p.G22 0.995 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB49 HGNC ENSG00000168826 194 0 0.00 172 41 19.07 - - - ZEB1 0 genome.wustl.edu 37 10 31815999 31815999 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 10 31815999 31815999 G A SNP ZEB1 ENST00000361642 human ensembl 69_37n +1 known missense c.3185 p.G1062E 0.970 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 802 0 0.00 494 366 42.51 - - - ZMYM4 0 genome.wustl.edu 37 1 35835660 35835660 + Nonsense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 35835660 35835660 C T SNP ZMYM4 ENST00000314607 human ensembl 69_37n +1 known nonsense c.871 p.Q291* 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH - no_errors ZMYM4 HGNC ENSG00000146463 138 0 0.00 74 22 22.92 - - - ZNF184 0 genome.wustl.edu 37 6 27419990 27419990 + Missense_Mutation SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 6 27419990 27419990 C T SNP ZNF184 ENST00000211936 human ensembl 69_37n -1 known missense c.1348 p.E450K 0.508 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 ZNF184 HGNC ENSG00000096654 111 0 0.00 93 30 24.39 - - - ZNF492 0 genome.wustl.edu 37 19 22847909 22847909 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 22847909 22847909 G A SNP ZNF492 ENST00000456783 human ensembl 69_37n +1 known missense c.1438 p.E480K 0.151 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 61 0 0.00 38 23 37.70 - - - ZNF534 0 genome.wustl.edu 37 19 52942228 52942228 + Silent SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 52942228 52942228 G A SNP ZNF534 ENST00000332323 human ensembl 69_37n +1 known silent c.1554 p.Q518 0.000 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 ZNF534 HGNC ENSG00000198633 146 0 0.00 69 42 37.84 - - - ZNF536 0 genome.wustl.edu 37 19 31039333 31039334 + Frame_Shift_Ins INS - - C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 31039333 31039334 - C INS ZNF536 ENST00000355537 human ensembl 69_37n +1 known frame_shift_ins c.2807_2808 p.M936fs 0.055:0.880 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 60 0 0.00 22 9 29.03 - - - ZNF549 0 genome.wustl.edu 37 19 58050005 58050005 + Missense_Mutation SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 58050005 58050005 C G SNP ZNF549 ENST00000376233 human ensembl 69_37n +1 known missense c.1633 p.L545V 0.000 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 ZNF549 HGNC ENSG00000121406 158 0 0.00 81 14 14.74 - - - ZNF805 0 genome.wustl.edu 37 19 57764450 57764450 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 19 57764450 57764450 G A SNP ZNF805 ENST00000414468 human ensembl 69_37n +1 known missense c.263 p.G88E 0.001 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 ZNF805 HGNC ENSG00000204524 154 0 0.00 40 68 61.82 - - - ZNF862 0 genome.wustl.edu 37 7 149558908 149558908 + Frame_Shift_Del DEL G G - TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 7 149558908 149558908 G - DEL ZNF862 ENST00000223210 human ensembl 69_37n +1 known frame_shift_del c.2659 p.E890fs 0.975 NULL pfam_Krueppel-associated_box,pfam_HATC,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 66 0 0.00 15 13 44.83 - - - ZYG11A 0 genome.wustl.edu 37 1 53323171 53323171 + Missense_Mutation SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 53323171 53323171 G A SNP ZYG11A ENST00000371528 human ensembl 69_37n +1 known missense c.758 p.R253K 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11A HGNC ENSG00000203995 50 0 0.00 18 28 60.87 - - - ZYG11A 0 genome.wustl.edu 37 1 53347220 53347220 + Silent SNP C C G TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 473d5422-978a-48be-be32-2b7516d6d2d5 c66176ec-6088-430c-a3f3-3c03ba2b5b1a 1 53347220 53347220 C G SNP ZYG11A ENST00000371528 human ensembl 69_37n +1 known silent c.1827 p.L609 0.529 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11A HGNC ENSG00000203995 184 0 0.00 73 96 56.80 - - -