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 ABCF2 0 genome.wustl.edu 37 7 150916170 150916170 + Missense_Mutation SNP C C G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 7 150916170 150916170 C G SNP ABCF2 ENST00000222388 human ensembl 69_37n -1 known missense c.997 p.D333H 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 48 0 0.00 35 8 18.60 - - - ADCY9 0 genome.wustl.edu 37 16 4015842 4015842 + Missense_Mutation SNP G G T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 16 4015842 4015842 G T SNP ADCY9 ENST00000294016 human ensembl 69_37n -1 known missense c.3996 p.D1332E 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 133 0 0.00 89 25 21.93 - - - ALG13 0 genome.wustl.edu 37 X 110970673 110970673 + Missense_Mutation SNP G G T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 X 110970673 110970673 G T SNP ALG13 ENST00000251943 human ensembl 69_37n +1 known missense c.1778 p.R593L 1.000 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 31 0 0.00 28 10 26.32 - - - ALMS1 0 genome.wustl.edu 37 2 73799946 73799946 + Nonsense_Mutation SNP G G T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 2 73799946 73799946 G T SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known nonsense c.10939 p.E3647* 0.993 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 43 0 0.00 30 11 26.83 - - - ANKRD30BL 0 genome.wustl.edu 37 2 133015299 133015299 + RNA SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 2 133015299 133015299 C T SNP ANKRD30BL ENST00000470729 human ensembl 69_37n -1 known rna NULL NULL 0.007 - - - no_errors ANKRD30BL HGNC ENSG00000163046 13 0 0.00 11 9 45.00 - - - ASTN1 0 genome.wustl.edu 37 1 176915214 176915214 + Nonsense_Mutation SNP G G T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 1 176915214 176915214 G T SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known nonsense c.2121 p.C707* 1.000 smart_EGF-like superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 33 0 0.00 28 5 15.15 - - - ATP6AP1 0 genome.wustl.edu 37 X 153662003 153662003 + Silent SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 X 153662003 153662003 G A SNP ATP6AP1 ENST00000369762 human ensembl 69_37n +1 known silent c.621 p.L207 1.000 pfam_BIG/ATPase_V1_suS1 pfam_BIG/ATPase_V1_suS1 - no_errors ATP6AP1 HGNC ENSG00000071553 54 0 0.00 24 5 17.24 - - - ATXN2 0 genome.wustl.edu 37 12 111923644 111923644 + Missense_Mutation SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 12 111923644 111923644 G A SNP ATXN2 ENST00000377617 human ensembl 69_37n -1 known missense c.2810 p.S937L 0.998 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 102 0 0.00 54 17 23.94 - - - B4GALT5 0 genome.wustl.edu 37 20 48260137 48260137 + Missense_Mutation SNP C C G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 20 48260137 48260137 C G SNP B4GALT5 ENST00000371711 human ensembl 69_37n -1 known missense c.415 p.E139Q 0.918 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT5 HGNC ENSG00000158470 117 0 0.00 68 15 18.07 - - - BDP1 0 genome.wustl.edu 37 5 70757714 70757714 + Missense_Mutation SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 5 70757714 70757714 G A SNP BDP1 ENST00000358731 human ensembl 69_37n +1 known missense c.560 p.R187K 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 26 0 0.00 13 4 23.53 - - - BOD1L1 0 genome.wustl.edu 37 4 13605856 13605856 + Missense_Mutation SNP C C G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 4 13605856 13605856 C G SNP BOD1L1 ENST00000040738 human ensembl 69_37n -1 known missense c.2668 p.E890Q 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 66 0 0.00 56 15 21.13 - - - BRD4 0 genome.wustl.edu 37 19 15366988 15366988 + Missense_Mutation SNP C C G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 19 15366988 15366988 C G SNP BRD4 ENST00000263377 human ensembl 69_37n -1 known missense c.1638 p.K546N 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 212 0 0.00 142 27 15.98 - - - C7orf50 0 genome.wustl.edu 37 7 1166897 1166897 + Missense_Mutation SNP G G C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 7 1166897 1166897 G C SNP C7orf50 ENST00000357429 human ensembl 69_37n -1 known missense c.125 p.S42C 0.000 NULL pfam_DUF2373 - no_errors C7orf50 HGNC ENSG00000146540 48 0 0.00 33 11 25.00 - - - CACNA1A 0 genome.wustl.edu 37 19 13387897 13387897 + Missense_Mutation SNP C C G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 19 13387897 13387897 C G SNP CACNA1A ENST00000360228 human ensembl 69_37n -1 known missense c.3868 p.E1290Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 62 0 0.00 46 14 23.33 - - - CACNA1H 0 genome.wustl.edu 37 16 1254329 1254329 + Nonsense_Mutation SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 16 1254329 1254329 G A SNP CACNA1H ENST00000348261 human ensembl 69_37n +1 known nonsense c.2322 p.W774* 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 12 0 0.00 7 7 50.00 - - - CCDC108 0 genome.wustl.edu 37 2 219895964 219895964 + Silent SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 2 219895964 219895964 C T SNP CCDC108 ENST00000341552 human ensembl 69_37n -1 known silent c.879 p.G293 0.466 superfamily_PapD-like superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 21 0 0.00 8 5 38.46 - - - CDC42BPA 0 genome.wustl.edu 37 1 227261635 227261635 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 1 227261635 227261635 C T SNP CDC42BPA ENST00000334218 human ensembl 69_37n -1 known missense c.2665 p.E889K 1.000 pfam_Myotonic_dystrophy_kinase_coil pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC ENSG00000143776 125 0 0.00 104 27 20.61 - - - CHD7 0 genome.wustl.edu 37 8 61765855 61765855 + Missense_Mutation SNP G G C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 8 61765855 61765855 G C SNP CHD7 ENST00000307121 human ensembl 69_37n +1 known missense c.6571 p.E2191Q 0.990 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 22 0 0.00 16 4 20.00 - - - COL6A1 0 genome.wustl.edu 37 21 47402592 47402592 + Missense_Mutation SNP G G T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 21 47402592 47402592 G T SNP COL6A1 ENST00000361866 human ensembl 69_37n +1 known missense c.142 p.V48L 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 27 0 0.00 8 11 57.89 - - - COL9A1 0 genome.wustl.edu 37 6 70948982 70948982 + Missense_Mutation SNP A A T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 6 70948982 70948982 A T SNP COL9A1 ENST00000357250 human ensembl 69_37n -1 known missense c.2087 p.I696K 0.983 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 34 0 0.00 25 10 28.57 - - - CRMP1 0 genome.wustl.edu 37 4 5830394 5830394 + Missense_Mutation SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 4 5830394 5830394 G A SNP CRMP1 ENST00000324989 human ensembl 69_37n -1 known missense c.1625 p.A542V 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 47 0 0.00 10 6 37.50 - - - CTNNB1 0 genome.wustl.edu 37 3 41280699 41280699 + Missense_Mutation SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 3 41280699 41280699 G A SNP CTNNB1 ENST00000349496 human ensembl 69_37n +1 known missense c.2212 p.E738K 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,prints_Beta-catenin,pfscan_Armadillo - no_errors CTNNB1 HGNC ENSG00000168036 36 0 0.00 12 5 29.41 - - - CTSF 0 genome.wustl.edu 37 11 66331579 66331579 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 11 66331579 66331579 C T SNP CTSF ENST00000310325 human ensembl 69_37n -1 known missense c.1360 p.G454S 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSF HGNC ENSG00000174080 50 0 0.00 30 5 14.29 - - - DENND1A 0 genome.wustl.edu 37 9 126345542 126345542 + Missense_Mutation SNP C C G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 9 126345542 126345542 C G SNP DENND1A ENST00000394219 human ensembl 69_37n -1 known missense c.677 p.R226T 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 59 0 0.00 29 7 19.44 - - - DIAPH3 0 genome.wustl.edu 37 13 60545069 60545069 + Missense_Mutation SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 13 60545069 60545069 G A SNP DIAPH3 ENST00000400324 human ensembl 69_37n -1 known missense c.1876 p.P626S 0.208 superfamily_FH2_actin-bd pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH3 HGNC ENSG00000139734 55 0 0.00 28 5 15.15 - - - DNAJC16 0 genome.wustl.edu 37 1 15890821 15890821 + Nonsense_Mutation SNP C C G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 1 15890821 15890821 C G SNP DNAJC16 ENST00000375847 human ensembl 69_37n +1 known nonsense c.1565 p.S522* 0.993 NULL pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors DNAJC16 HGNC ENSG00000116138 102 0 0.00 48 22 31.43 - - - EMC2 0 genome.wustl.edu 37 8 109462671 109462671 + Missense_Mutation SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 8 109462671 109462671 G A SNP EMC2 ENST00000220853 human ensembl 69_37n +1 known missense c.169 p.E57K 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors EMC2 HGNC ENSG00000104412 130 0 0.00 142 19 11.80 - - - FAM105B 0 genome.wustl.edu 37 5 14693019 14693019 + Missense_Mutation SNP C C G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 5 14693019 14693019 C G SNP FAM105B ENST00000506417 human ensembl 69_37n +1 novel missense c.115 p.L39V 0.999 prints_FAM105 prints_FAM105 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FAM105B HGNC ENSG00000154124 47 0 0.00 15 11 42.31 - - - FAM115C 0 genome.wustl.edu 37 7 143417083 143417083 + Missense_Mutation SNP T T C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 7 143417083 143417083 T C SNP FAM115C ENST00000441159 human ensembl 69_37n +1 known missense c.931 p.C311R 0.002 NULL NULL - no_errors FAM115C HGNC ENSG00000170379 8 0 0.00 3 5 62.50 - - - FBXW9 0 genome.wustl.edu 37 19 12800969 12800969 + Missense_Mutation SNP G G C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 19 12800969 12800969 G C SNP FBXW9 ENST00000380339 human ensembl 69_37n -1 known missense c.929 p.S310W 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW9 HGNC ENSG00000132004 29 0 0.00 17 6 26.09 - - - FMNL2 0 genome.wustl.edu 37 2 153496517 153496517 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 2 153496517 153496517 C T SNP FMNL2 ENST00000288670 human ensembl 69_37n +1 known missense c.2992 p.L998F 0.678 superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 46 0 0.00 39 5 11.36 - - - FNIP2 0 genome.wustl.edu 37 4 159791486 159791486 + Silent SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 4 159791486 159791486 G A SNP FNIP2 ENST00000379346 human ensembl 69_37n +1 known silent c.2883 p.Q961 0.002 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 56 0 0.00 25 8 24.24 - - - GABBR2 0 genome.wustl.edu 37 9 101235526 101235526 + Missense_Mutation SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 9 101235526 101235526 G A SNP GABBR2 ENST00000259455 human ensembl 69_37n -1 known missense c.901 p.R301C 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B2 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 75 0 0.00 33 7 17.50 - - - GFPT2 0 genome.wustl.edu 37 5 179757778 179757778 + Silent SNP C C G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 5 179757778 179757778 C G SNP GFPT2 ENST00000253778 human ensembl 69_37n -1 known silent c.456 p.L152 1.000 pfam_GATase_dom pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 149 0 0.00 88 16 15.38 - - - GPX4 0 genome.wustl.edu 37 19 1106407 1106407 + Nonsense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 19 1106407 1106407 C T SNP GPX4 ENST00000593032 human ensembl 69_37n +1 novel nonsense c.547 p.R183* 0.669 NULL pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold - no_start_codon:pseudogene:no_stop_codon GPX4 HGNC ENSG00000167468 29 0 0.00 11 6 35.29 - - - GRM3 0 genome.wustl.edu 37 7 86415885 86415885 + Silent SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 7 86415885 86415885 G A SNP GRM3 ENST00000361669 human ensembl 69_37n +1 known silent c.777 p.V259 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt 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 19 0 0.00 19 7 26.92 - - - HIPK2 0 genome.wustl.edu 37 7 139299077 139299077 + Missense_Mutation SNP C C G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 7 139299077 139299077 C G SNP HIPK2 ENST00000406875 human ensembl 69_37n -1 known missense c.1945 p.D649H 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK2 HGNC ENSG00000064393 58 0 0.00 36 8 18.18 - - - HLA-DQB2 0 genome.wustl.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 6 32725559 32725559 C T SNP HLA-DQB2 ENST00000435145 human ensembl 69_37n -1 known missense c.748 p.G250S 0.392 NULL pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQB2 HGNC ENSG00000232629 25 0 0.00 22 8 26.67 - - - HLA-DQB2 0 genome.wustl.edu 37 6 32725567 32725567 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 6 32725567 32725567 C T SNP HLA-DQB2 ENST00000435145 human ensembl 69_37n -1 known missense c.740 p.R247H 0.030 NULL pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQB2 HGNC ENSG00000232629 25 0 0.00 23 9 28.12 - - - HNF1A 0 genome.wustl.edu 37 12 121426687 121426687 + Missense_Mutation SNP C C A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 12 121426687 121426687 C A SNP HNF1A ENST00000257555 human ensembl 69_37n +1 known missense c.378 p.H126Q 1.000 pfam_HNF-1_N,superfamily_Lambda_DNA-bd_dom pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1A HGNC ENSG00000135100 45 0 0.00 24 6 20.00 - - - IDH1 0 genome.wustl.edu 37 2 209113243 209113243 + Silent SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 2 209113243 209113243 C T SNP IDH1 ENST00000345146 human ensembl 69_37n -1 known silent c.264 p.L88 1.000 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP_euk-typ,tigrfam_Isocitrate_DH_NADP_euk-typ pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP_euk-typ,tigrfam_Isocitrate_DH_NADP_euk-typ - no_errors IDH1 HGNC ENSG00000138413 109 0 0.00 49 11 18.33 - - - IGF2R 0 genome.wustl.edu 37 6 160461698 160461698 + Silent SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 6 160461698 160461698 C T SNP IGF2R ENST00000356956 human ensembl 69_37n +1 known silent c.1422 p.L474 1.000 pfam_CIMR pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 33 0 0.00 16 5 23.81 - - - IL20RA 0 genome.wustl.edu 37 6 137330612 137330612 + Nonsense_Mutation SNP C C A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 6 137330612 137330612 C A SNP IL20RA ENST00000316649 human ensembl 69_37n -1 known nonsense c.421 p.E141* 0.443 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL20RA HGNC ENSG00000016402 43 0 0.00 29 5 14.71 - - - ITGBL1 0 genome.wustl.edu 37 13 102250555 102250555 + Silent SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 13 102250555 102250555 G A SNP ITGBL1 ENST00000376180 human ensembl 69_37n +1 known silent c.921 p.G307 0.999 pfam_EGF_extracell,smart_EGF-like pfam_EGF_extracell,smart_EGF-like - no_errors ITGBL1 HGNC ENSG00000198542 59 0 0.00 30 6 16.67 - - - KAL1 0 genome.wustl.edu 37 X 8553307 8553307 + Splice_Site SNP C C A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 X 8553307 8553307 C A SNP KAL1 ENST00000262648 human ensembl 69_37n -1 known splice_site c.856+1 e6+1 1.000 - - - no_errors KAL1 HGNC ENSG00000011201 51 0 0.00 26 10 27.78 - - - KCNQ1 0 genome.wustl.edu 37 11 2591933 2591933 + Missense_Mutation SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 11 2591933 2591933 G A SNP KCNQ1 ENST00000155840 human ensembl 69_37n +1 known missense c.553 p.V185M 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC ENSG00000053918 72 0 0.00 37 7 15.91 - - - KIAA0195 0 genome.wustl.edu 37 17 73489641 73489641 + Missense_Mutation SNP G G T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 17 73489641 73489641 G T SNP KIAA0195 ENST00000314256 human ensembl 69_37n +1 known missense c.2156 p.G719V 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 48 0 0.00 19 6 24.00 - - - KRBA2 0 genome.wustl.edu 37 17 8272527 8272527 + Silent SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 17 8272527 8272527 G A SNP KRBA2 ENST00000331336 human ensembl 69_37n -1 known silent c.1404 p.D468 0.000 NULL pfam_Krueppel-associated_box,superfamily_RNaseH-like_dom,superfamily_Krueppel-associated_box,pfscan_Integrase_cat-core - no_errors KRBA2 HGNC ENSG00000184619 73 0 0.00 26 9 25.71 - - - L1CAM 0 genome.wustl.edu 37 X 153129444 153129444 + Silent SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 X 153129444 153129444 G A SNP L1CAM ENST00000543994 human ensembl 69_37n -1 known silent c.3357 p.F1119 0.915 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC ENSG00000198910 48 0 0.00 20 10 33.33 - - - LGALS1 0 genome.wustl.edu 37 22 38073045 38073045 + Missense_Mutation SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 22 38073045 38073045 G A SNP LGALS1 ENST00000215909 human ensembl 69_37n +1 known missense c.62 p.R21Q 0.567 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALS1 HGNC ENSG00000100097 52 0 0.00 23 8 25.81 - - - LILRB2 0 genome.wustl.edu 37 19 54780306 54780306 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 19 54780306 54780306 C T SNP LILRB2 ENST00000455108 human ensembl 69_37n -1 known missense c.515 p.R172K 0.004 NULL smart_Ig_sub - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LILRB2 HGNC ENSG00000131042 35 0 0.00 23 8 25.81 - - - LRGUK 0 genome.wustl.edu 37 7 133863335 133863335 + Silent SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 7 133863335 133863335 G A SNP LRGUK ENST00000285928 human ensembl 69_37n +1 known silent c.1188 p.V396 1.000 NULL pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin - no_errors LRGUK HGNC ENSG00000155530 35 0 0.00 20 6 23.08 - - - LRP2 0 genome.wustl.edu 37 2 170044543 170044543 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 2 170044543 170044543 C T SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known missense c.9265 p.E3089K 0.906 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 44 0 0.00 21 6 22.22 - - - MAP2 0 genome.wustl.edu 37 2 210558835 210558835 + Silent SNP T T C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 2 210558835 210558835 T C SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known silent c.1941 p.D647 0.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 46 0 0.00 22 12 35.29 - - - MAP2K4 0 genome.wustl.edu 37 17 12044531 12044531 + Missense_Mutation SNP T T C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 17 12044531 12044531 T C SNP MAP2K4 ENST00000415385 human ensembl 69_37n +1 known missense c.1187 p.L396P 1.000 superfamily_Kinase-like_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 MAP2K4 HGNC ENSG00000065559 77 0 0.00 16 19 54.29 - - - MAP2K6 0 genome.wustl.edu 37 17 67537883 67537883 + Missense_Mutation SNP C C A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 17 67537883 67537883 C A SNP MAP2K6 ENST00000590474 human ensembl 69_37n +1 known missense c.994 p.L332I 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 MAP2K6 HGNC ENSG00000108984 56 0 0.00 22 26 54.17 - - - MDM1 0 genome.wustl.edu 37 12 68716927 68716927 + Missense_Mutation SNP G G C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 12 68716927 68716927 G C SNP MDM1 ENST00000303145 human ensembl 69_37n -1 known missense c.727 p.P243A 1.000 NULL NULL - no_errors MDM1 HGNC ENSG00000111554 129 0 0.00 84 16 16.00 - - - MKI67 0 genome.wustl.edu 37 10 129913274 129913274 + Missense_Mutation SNP T T G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 10 129913274 129913274 T G SNP MKI67 ENST00000368654 human ensembl 69_37n -1 known missense c.1398 p.K466N 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 64 0 0.00 28 5 15.15 - - - MNAT1 0 genome.wustl.edu 37 14 61434964 61434964 + Missense_Mutation SNP G G C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 14 61434964 61434964 G C SNP MNAT1 ENST00000261245 human ensembl 69_37n +1 known missense c.827 p.R276T 1.000 pirsf_MAT1_metazoa,tigrfam_MAT1 pirsf_MAT1_metazoa,pfam_Cdk-activating_kinase_MAT1_cen,smart_Znf_RING,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING,tigrfam_MAT1 - no_errors MNAT1 HGNC ENSG00000020426 65 0 0.00 38 12 24.00 - - - MUC2 0 genome.wustl.edu 37 11 1093757 1093757 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 11 1093757 1093757 C T SNP MUC2 ENST00000441003 human ensembl 69_37n +1 known missense c.5576 p.P1859L 0.035 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 69 0 0.00 35 22 38.60 - - - MYO1A 0 genome.wustl.edu 37 12 57436929 57436929 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 12 57436929 57436929 C T SNP MYO1A ENST00000300119 human ensembl 69_37n -1 known missense c.1025 p.R342Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1A HGNC ENSG00000166866 80 0 0.00 36 13 26.53 - - - NADK 0 genome.wustl.edu 37 1 1688035 1688035 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 1 1688035 1688035 C T SNP NADK ENST00000344463 human ensembl 69_37n -1 known missense c.841 p.V281M 1.000 superfamily_ATP-NAD_kinase_PpnK-typ pfam_polyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 44 0 0.00 33 9 21.43 - - - NBPF1 0 genome.wustl.edu 37 1 16901095 16901095 + RNA SNP G G C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 1 16901095 16901095 G C SNP NBPF1 ENST00000287968 human ensembl 69_37n -1 known rna NULL NULL 0.005 - - - no_errors NBPF1 HGNC ENSG00000219481 144 0 0.00 89 30 25.21 - - - NCOA3 0 genome.wustl.edu 37 20 46271054 46271054 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 20 46271054 46271054 C T SNP NCOA3 ENST00000371998 human ensembl 69_37n +1 known missense c.3178 p.L1060F 0.691 pfam_Nuc_rcpt_coact_Ncoa-typ,superfamily_Nuc_rcpt_coact,pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NCOA3 HGNC ENSG00000124151 85 0 0.00 56 9 13.85 - - - NF1 0 genome.wustl.edu 37 17 29556189 29556189 + Silent SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 17 29556189 29556189 C T SNP NF1 ENST00000358273 human ensembl 69_37n +1 known silent c.2556 p.L852 0.979 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 30 0 0.00 24 6 20.00 - - - NLRP7 0 genome.wustl.edu 37 19 55451233 55451233 + Silent SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 19 55451233 55451233 G A SNP NLRP7 ENST00000446217 human ensembl 69_37n -1 known silent c.1038 p.Y346 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 30 0 0.00 23 4 14.81 - - - OR51D1 0 genome.wustl.edu 37 11 4661647 4661647 + Silent SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 11 4661647 4661647 G A SNP OR51D1 ENST00000357605 human ensembl 69_37n +1 known silent c.627 p.V209 0.004 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR51D1 HGNC ENSG00000197428 171 0 0.00 82 22 21.15 - - - OR5D14 0 genome.wustl.edu 37 11 55563055 55563055 + Silent SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 11 55563055 55563055 G A SNP OR5D14 ENST00000335605 human ensembl 69_37n +1 known silent c.24 p.L8 0.001 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 39 0 0.00 35 9 20.45 - - - OR5K3 0 genome.wustl.edu 37 3 98110426 98110426 + Missense_Mutation SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 3 98110426 98110426 G A SNP OR5K3 ENST00000383695 human ensembl 69_37n +1 known missense c.917 p.R306K 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 OR5K3 HGNC ENSG00000206536 19 0 0.00 17 7 29.17 - - - OSCAR 0 genome.wustl.edu 37 19 54598516 54598516 + Missense_Mutation SNP C C G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 19 54598516 54598516 C G SNP OSCAR ENST00000356532 human ensembl 69_37n -1 known missense c.774 p.Q258H 0.004 NULL smart_Ig_sub - no_errors OSCAR HGNC ENSG00000170909 31 0 0.00 17 4 19.05 - - - PCBP2 0 genome.wustl.edu 37 12 53854905 53854906 + Frame_Shift_Ins INS - - T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 12 53854905 53854906 - T INS PCBP2 ENST00000546463 human ensembl 69_37n +1 known frame_shift_ins c.482_483 p.Q161fs 1.000:1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP2 HGNC ENSG00000197111 81 0 0.00 26 20 43.48 - - - PCDHA9 0 genome.wustl.edu 37 5 140228399 140228399 + Missense_Mutation SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 5 140228399 140228399 G A SNP PCDHA9 ENST00000532602 human ensembl 69_37n +1 known missense c.319 p.E107K 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 54 0 0.00 43 9 17.31 - - - PCDHB4 0 genome.wustl.edu 37 5 140503864 140503864 + Nonsense_Mutation SNP G G T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 5 140503864 140503864 G T SNP PCDHB4 ENST00000194152 human ensembl 69_37n +1 known nonsense c.2284 p.E762* 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 39 0 0.00 19 5 20.83 - - - PCIF1 0 genome.wustl.edu 37 20 44574946 44574946 + Silent SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 20 44574946 44574946 C T SNP PCIF1 ENST00000372409 human ensembl 69_37n +1 known silent c.1536 p.F512 0.897 pfam_PCIF1_WW pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors PCIF1 HGNC ENSG00000100982 52 0 0.00 33 8 19.51 - - - PCIF1 0 genome.wustl.edu 37 20 44576059 44576059 + Missense_Mutation SNP C C G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 20 44576059 44576059 C G SNP PCIF1 ENST00000372409 human ensembl 69_37n +1 known missense c.1865 p.S622C 1.000 NULL pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors PCIF1 HGNC ENSG00000100982 22 0 0.00 25 11 30.56 - - - PDS5B 0 genome.wustl.edu 37 13 33315238 33315238 + Silent SNP T T G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 13 33315238 33315238 T G SNP PDS5B ENST00000315596 human ensembl 69_37n +1 known silent c.2427 p.T809 0.986 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 45 0 0.00 40 5 11.11 - - - PGK1 0 genome.wustl.edu 37 X 77369391 77369391 + Silent SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 X 77369391 77369391 G A SNP PGK1 ENST00000373316 human ensembl 69_37n +1 known silent c.267 p.L89 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK1 HGNC ENSG00000102144 56 0 0.00 36 4 10.00 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 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 45 0 0.00 32 19 37.25 - - - POLR3E 0 genome.wustl.edu 37 16 22337485 22337485 + Silent SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 16 22337485 22337485 C T SNP POLR3E ENST00000299853 human ensembl 69_37n +1 known silent c.1752 p.L584 1.000 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 20 0 0.00 15 6 28.57 - - - PPP1R13B 0 genome.wustl.edu 37 14 104263855 104263855 + Missense_Mutation SNP T T A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 14 104263855 104263855 T A SNP PPP1R13B ENST00000202556 human ensembl 69_37n -1 known missense c.10 p.M4L 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 53 0 0.00 24 8 25.00 - - - PRPF40A 0 genome.wustl.edu 37 2 153533228 153533228 + Missense_Mutation SNP A A C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 2 153533228 153533228 A C SNP PRPF40A ENST00000410080 human ensembl 69_37n -1 known missense c.722 p.M241R 1.000 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 180 0 0.00 74 29 28.16 - - - RBBP6 0 genome.wustl.edu 37 16 24579150 24579150 + Missense_Mutation SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 16 24579150 24579150 G A SNP RBBP6 ENST00000319715 human ensembl 69_37n +1 known missense c.1990 p.D664N 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 46 0 0.00 41 9 18.00 - - - RGS3 0 genome.wustl.edu 37 9 116247927 116247927 + Nonsense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 9 116247927 116247927 C T SNP RGS3 ENST00000350696 human ensembl 69_37n +1 known nonsense c.643 p.Q215* 0.974 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC ENSG00000138835 78 0 0.00 50 7 12.28 - - - RNGTT 0 genome.wustl.edu 37 6 89638949 89638949 + Missense_Mutation SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 6 89638949 89638949 G A SNP RNGTT ENST00000369485 human ensembl 69_37n -1 known missense c.212 p.S71L 0.997 pfam_Dual-sp_phosphatase_cat-dom,pirsf_mRNA_cap_enz_bifunc pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase - no_errors RNGTT HGNC ENSG00000111880 16 0 0.00 21 5 19.23 - - - SCML1 0 genome.wustl.edu 37 X 17768235 17768235 + Silent SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 X 17768235 17768235 C T SNP SCML1 ENST00000380041 human ensembl 69_37n +1 known silent c.525 p.L175 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SCML1 HGNC ENSG00000047634 45 0 0.00 25 5 16.67 - - - SLC6A5 0 genome.wustl.edu 37 11 20636348 20636348 + Missense_Mutation SNP G G T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 11 20636348 20636348 G T SNP SLC6A5 ENST00000525748 human ensembl 69_37n +1 known missense c.1109 p.G370V 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 61 0 0.00 36 11 23.40 - - - SLITRK1 0 genome.wustl.edu 37 13 84453665 84453665 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 13 84453665 84453665 C T SNP SLITRK1 ENST00000377084 human ensembl 69_37n -1 known missense c.1978 p.E660K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 32 0 0.00 19 7 26.92 - - - SMARCA1 0 genome.wustl.edu 37 X 128602783 128602783 + Missense_Mutation SNP C C A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 X 128602783 128602783 C A SNP SMARCA1 ENST00000371122 human ensembl 69_37n -1 known missense c.2665 p.G889C 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 79 0 0.00 45 10 18.18 - - - TAOK1 0 genome.wustl.edu 37 17 27818872 27818872 + Nonsense_Mutation SNP G G T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 17 27818872 27818872 G T SNP TAOK1 ENST00000261716 human ensembl 69_37n +1 known nonsense c.820 p.E274* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK1 HGNC ENSG00000160551 52 0 0.00 44 12 21.43 - - - TMEM117 0 genome.wustl.edu 37 12 44238546 44238546 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 12 44238546 44238546 C T SNP TMEM117 ENST00000266534 human ensembl 69_37n +1 known missense c.92 p.A31V 1.000 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 93 0 0.00 65 16 19.75 - - - TNRC6B 0 genome.wustl.edu 37 22 40704525 40704525 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 22 40704525 40704525 C T SNP TNRC6B ENST00000454349 human ensembl 69_37n +1 known missense c.4130 p.S1377F 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 82 0 0.00 53 10 15.87 - - - TSPYL2 0 genome.wustl.edu 37 X 53114174 53114174 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 X 53114174 53114174 C T SNP TSPYL2 ENST00000375442 human ensembl 69_37n +1 known missense c.1036 p.R346W 1.000 pfam_NAP_family pfam_NAP_family - no_errors TSPYL2 HGNC ENSG00000184205 25 0 0.00 13 4 23.53 - - - WDR7 0 genome.wustl.edu 37 18 54354174 54354174 + Missense_Mutation SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 18 54354174 54354174 C T SNP WDR7 ENST00000254442 human ensembl 69_37n +1 known missense c.686 p.S229L 1.000 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 77 0 0.00 49 9 15.52 - - - XPR1 0 genome.wustl.edu 37 1 180651527 180651527 + Missense_Mutation SNP A A G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 1 180651527 180651527 A G SNP XPR1 ENST00000367590 human ensembl 69_37n +1 known missense c.101 p.D34G 1.000 pfam_SPX_N pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 25 0 0.00 29 18 38.30 - - - ZNF461 0 genome.wustl.edu 37 19 37129791 37129791 + Nonsense_Mutation SNP G G A TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 19 37129791 37129791 G A SNP ZNF461 ENST00000588268 human ensembl 69_37n -1 known nonsense c.1456 p.Q486* 0.001 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 ZNF461 HGNC ENSG00000197808 48 0 0.00 44 7 13.73 - - - ZNF461 0 genome.wustl.edu 37 19 37129879 37129879 + Silent SNP G G C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 19 37129879 37129879 G C SNP ZNF461 ENST00000588268 human ensembl 69_37n -1 known silent c.1368 p.L456 0.063 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 ZNF461 HGNC ENSG00000197808 51 0 0.00 34 6 15.00 - - - ZNF461 0 genome.wustl.edu 37 19 37130138 37130138 + Nonsense_Mutation SNP G G C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 19 37130138 37130138 G C SNP ZNF461 ENST00000588268 human ensembl 69_37n -1 known nonsense c.1109 p.S370* 0.014 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 ZNF461 HGNC ENSG00000197808 58 0 0.00 42 9 17.65 - - - ZNF461 0 genome.wustl.edu 37 19 37130379 37130379 + Missense_Mutation SNP G G C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 19 37130379 37130379 G C SNP ZNF461 ENST00000588268 human ensembl 69_37n -1 known missense c.868 p.L290V 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 ZNF461 HGNC ENSG00000197808 72 0 0.00 43 9 17.31 - - - ZNF701 0 genome.wustl.edu 37 19 53086613 53086613 + Missense_Mutation SNP G G C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 19 53086613 53086613 G C SNP ZNF701 ENST00000301093 human ensembl 69_37n +1 known missense c.1499 p.G500A 0.889 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 ZNF701 HGNC ENSG00000167562 52 0 0.00 26 11 29.73 - - - ZNF792 0 genome.wustl.edu 37 19 35450195 35450195 + Missense_Mutation SNP G G C TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 19 35450195 35450195 G C SNP ZNF792 ENST00000404801 human ensembl 69_37n -1 known missense c.564 p.I188M 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 ZNF792 HGNC ENSG00000180884 33 0 0.00 26 7 21.21 - - - ZNHIT6 0 genome.wustl.edu 37 1 86173517 86173517 + Missense_Mutation SNP C C G TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 1 86173517 86173517 C G SNP ZNHIT6 ENST00000370574 human ensembl 69_37n -1 known missense c.451 p.E151Q 0.152 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT6 HGNC ENSG00000117174 132 1 0.75 63 38 37.25 - - - ZSCAN23 0 genome.wustl.edu 37 6 28403768 28403768 + Silent SNP C C T TCGA-A7-A26H-01A-11D-A167-09 TCGA-A7-A26H-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbeade79-28ef-4e85-8282-67e691630ca3 73459869-08fc-408a-bdf0-6ca346113171 6 28403768 28403768 C T SNP ZSCAN23 ENST00000289788 human ensembl 69_37n -1 known silent c.276 p.V92 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN23 HGNC ENSG00000187987 57 0 0.00 40 8 16.67 - - -