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 ADAM2 0 genome.wustl.edu 37 8 39634664 39634664 + Missense_Mutation SNP C C A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 8 39634664 39634664 C A SNP ADAM2 ENST00000265708 human ensembl 69_37n -1 known missense c.908 p.S303I 0.056 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 46 0 0.00 100 36 26.47 - - - AJUBA 0 genome.wustl.edu 37 14 23451265 23451265 + Missense_Mutation SNP C C A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 14 23451265 23451265 C A SNP AJUBA ENST00000262713 human ensembl 69_37n -1 known missense c.211 p.D71Y 0.946 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors AJUBA HGNC ENSG00000129474 31 0 0.00 50 8 13.79 - - - ARHGAP11A 0 genome.wustl.edu 37 15 32929935 32929935 + Missense_Mutation SNP C C A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 15 32929935 32929935 C A SNP ARHGAP11A ENST00000361627 human ensembl 69_37n +1 known missense c.2961 p.N987K 0.019 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ENSG00000198826 74 0 0.00 75 23 23.47 - - - ARL1 0 genome.wustl.edu 37 12 101790184 101790184 + Missense_Mutation SNP T T C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 12 101790184 101790184 T C SNP ARL1 ENST00000261636 human ensembl 69_37n -1 known missense c.508 p.M170V 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL1 HGNC ENSG00000120805 274 1 0.36 336 72 17.65 - - - ASB7 0 genome.wustl.edu 37 15 101152633 101152636 + Splice_Site DEL GTGA GTGA - TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 GTGA GTGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 15 101152633 101152636 GTGA - DEL ASB7 ENST00000332783 human ensembl 69_37n +1 known splice_site_del c.211+1_211+1 e1+1 1.000:1.000:1.000:1.000 - - - no_errors ASB7 HGNC ENSG00000183475 198 0 0.00 375 104 21.71 - - - ATP10B 0 genome.wustl.edu 37 5 160063260 160063260 + Missense_Mutation SNP C C A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 5 160063260 160063260 C A SNP ATP10B ENST00000327245 human ensembl 69_37n -1 known missense c.1057 p.A353S 0.592 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 101 0 0.00 63 46 42.20 - - - ATP1A3 0 genome.wustl.edu 37 19 42474581 42474581 + Missense_Mutation SNP C C A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 19 42474581 42474581 C A SNP ATP1A3 ENST00000545399 human ensembl 69_37n -1 known missense c.2416 p.G806C 1.000 pfam_ATPase_P-typ_cation-transptr_C,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A3 HGNC ENSG00000105409 383 0 0.00 394 101 20.40 - - - ATP8B1 0 genome.wustl.edu 37 18 55361813 55361813 + Splice_Site SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 18 55361813 55361813 C T SNP ATP8B1 ENST00000283684 human ensembl 69_37n -1 known splice_site c.1029+1 e10+1 1.000 - - - no_errors ATP8B1 HGNC ENSG00000081923 267 0 0.00 266 40 13.07 - - - ATP8B2 0 genome.wustl.edu 37 1 154302873 154302873 + Missense_Mutation SNP A A C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 154302873 154302873 A C SNP ATP8B2 ENST00000368489 human ensembl 69_37n +1 known missense c.132 p.E44D 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ENSG00000143515 160 0 0.00 292 47 13.86 - - - BCAT2 0 genome.wustl.edu 37 19 49302971 49302971 + Missense_Mutation SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 19 49302971 49302971 C T SNP BCAT2 ENST00000316273 human ensembl 69_37n -1 known missense c.656 p.R219Q 0.998 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 42 0 0.00 49 36 41.86 - - - BEND7 0 genome.wustl.edu 37 10 13522910 13522910 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 10 13522910 13522910 C G SNP BEND7 ENST00000396900 human ensembl 69_37n -1 known missense c.1052 p.G351A 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 244 0 0.00 619 106 14.62 - - - C2orf71 0 genome.wustl.edu 37 2 29294720 29294720 + Missense_Mutation SNP G G T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 2 29294720 29294720 G T SNP C2orf71 ENST00000331664 human ensembl 69_37n -1 novel missense c.2408 p.P803H 0.001 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 65 0 0.00 84 25 22.73 - - - CASKIN1 0 genome.wustl.edu 37 16 2240078 2240078 + Missense_Mutation SNP G G T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 16 2240078 2240078 G T SNP CASKIN1 ENST00000343516 human ensembl 69_37n -1 known missense c.240 p.N80K 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 45 0 0.00 33 7 17.50 - - - CATSPER3 0 genome.wustl.edu 37 5 134346160 134346160 + Missense_Mutation SNP G G C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 5 134346160 134346160 G C SNP CATSPER3 ENST00000282611 human ensembl 69_37n +1 known missense c.1034 p.S345T 0.863 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER3 HGNC ENSG00000152705 323 0 0.00 172 107 38.35 - - - CD8A 0 genome.wustl.edu 37 2 87016512 87016512 + Missense_Mutation SNP C C A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 2 87016512 87016512 C A SNP CD8A ENST00000538832 human ensembl 69_37n -1 known missense c.682 p.A228S 0.888 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD8A HGNC ENSG00000153563 67 0 0.00 74 22 22.92 - - - CDC25B 0 genome.wustl.edu 37 20 3782017 3782017 + Silent SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 20 3782017 3782017 C T SNP CDC25B ENST00000245960 human ensembl 69_37n +1 known silent c.822 p.I274 1.000 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC ENSG00000101224 51 0 0.00 56 67 54.47 - - - CEP164 0 genome.wustl.edu 37 11 117280410 117280410 + Silent SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 11 117280410 117280410 G A SNP CEP164 ENST00000278935 human ensembl 69_37n +1 known silent c.3825 p.L1275 0.068 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC ENSG00000110274 70 0 0.00 52 34 39.53 - - - CEP290 0 genome.wustl.edu 37 12 88513938 88513938 + Missense_Mutation SNP T T C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 12 88513938 88513938 T C SNP CEP290 ENST00000309041 human ensembl 69_37n -1 known missense c.1475 p.K492R 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 143 0 0.00 137 250 64.43 - - - CEP350 0 genome.wustl.edu 37 1 180047635 180047635 + Nonsense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 180047635 180047635 C G SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known nonsense c.5805 p.Y1935* 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 119 0 0.00 241 62 20.39 - - - CHST3 0 genome.wustl.edu 37 10 73767504 73767506 + In_Frame_Del DEL AAG AAG - TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 10 73767504 73767506 AAG - DEL CHST3 ENST00000373115 human ensembl 69_37n +1 known in_frame_del c.715_717 p.K240in_frame_del 1.000:1.000:1.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 24 0 0.00 19 7 26.92 - - - CLEC10A 0 genome.wustl.edu 37 17 6978705 6978705 + Missense_Mutation SNP A A C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 17 6978705 6978705 A C SNP CLEC10A ENST00000254868 human ensembl 69_37n -1 known missense c.756 p.D252E 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC10A HGNC ENSG00000132514 196 1 0.51 259 74 22.22 - - - COG2 0 genome.wustl.edu 37 1 230822805 230822805 + Missense_Mutation SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 230822805 230822805 C T SNP COG2 ENST00000366669 human ensembl 69_37n +1 known missense c.1505 p.T502I 0.774 NULL pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 78 0 0.00 230 30 11.54 - - - COL5A2 0 genome.wustl.edu 37 2 189904113 189904113 + Silent SNP A A T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 2 189904113 189904113 A T SNP COL5A2 ENST00000374866 human ensembl 69_37n -1 known silent c.3810 p.A1270 0.855 smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 223 0 0.00 207 109 34.49 - - - COX4I2 0 genome.wustl.edu 37 20 30227892 30227892 + Missense_Mutation SNP A A G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 20 30227892 30227892 A G SNP COX4I2 ENST00000376075 human ensembl 69_37n +1 known missense c.239 p.K80R 1.000 pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 - no_errors COX4I2 HGNC ENSG00000131055 50 0 0.00 64 17 20.99 - - - CSMD3 0 genome.wustl.edu 37 8 113353841 113353841 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 8 113353841 113353841 C G SNP CSMD3 ENST00000297405 human ensembl 69_37n -1 known missense c.6517 p.E2173Q 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 177 0 0.00 610 91 12.96 - - - CTNNA3 0 genome.wustl.edu 37 10 69299408 69299408 + Silent SNP T T A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 10 69299408 69299408 T A SNP CTNNA3 ENST00000373744 human ensembl 69_37n -1 known silent c.312 p.S104 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 47 0 0.00 54 31 36.47 - - - CUBN 0 genome.wustl.edu 37 10 16893262 16893262 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 10 16893262 16893262 C G SNP CUBN ENST00000377833 human ensembl 69_37n -1 known missense c.9635 p.R3212T 0.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 117 0 0.00 357 65 15.40 - - - DHRS12 0 genome.wustl.edu 37 13 52345531 52345531 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 13 52345531 52345531 C G SNP DHRS12 ENST00000280056 human ensembl 69_37n -1 known missense c.660 p.Q220H 0.000 NULL pfam_DH_sc/Rdtase_SDR - no_errors DHRS12 HGNC ENSG00000102796 339 1 0.29 389 213 35.32 - - - DNAJC6 0 genome.wustl.edu 37 1 65860643 65860643 + Missense_Mutation SNP T T A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 65860643 65860643 T A SNP DNAJC6 ENST00000371069 human ensembl 69_37n +1 known missense c.1966 p.F656I 1.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC ENSG00000116675 212 0 0.00 376 89 19.14 - - - DNMBP 0 genome.wustl.edu 37 10 101643811 101643811 + Missense_Mutation SNP T T G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 10 101643811 101643811 T G SNP DNMBP ENST00000342239 human ensembl 69_37n -1 known missense c.4026 p.K1342N 1.000 superfamily_SH3_domain,smart_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,prints_p67phox,prints_Spectrin_alpha_SH3,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors DNMBP HGNC ENSG00000107554 100 0 0.00 117 50 29.94 - - - DVL1 0 genome.wustl.edu 37 1 1273446 1273446 + Missense_Mutation SNP T T A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 1273446 1273446 T A SNP DVL1 ENST00000378888 human ensembl 69_37n -1 known missense c.1625 p.Y542F 1.000 pfam_Dishevelled_C-dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_1,prints_Dishevelled - no_errors DVL1 HGNC ENSG00000107404 27 0 0.00 12 8 38.10 - - - DZIP3 0 genome.wustl.edu 37 3 108355480 108355480 + Missense_Mutation SNP A A T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 3 108355480 108355480 A T SNP DZIP3 ENST00000361582 human ensembl 69_37n +1 known missense c.936 p.K312N 0.996 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 112 0 0.00 266 74 21.76 - - - ECE2 0 genome.wustl.edu 37 3 183994723 183994723 + Missense_Mutation SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 3 183994723 183994723 C T SNP ECE2 ENST00000402825 human ensembl 69_37n +1 known missense c.524 p.T175M 0.892 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 103 0 0.00 153 39 20.31 - - - EIF2C3 0 genome.wustl.edu 37 1 36411332 36411332 + Missense_Mutation SNP G G T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 36411332 36411332 G T SNP EIF2C3 ENST00000373191 human ensembl 69_37n +1 known missense c.59 p.R20I 1.000 NULL pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C3 HGNC ENSG00000126070 95 0 0.00 184 41 18.22 - - - ELP5 0 genome.wustl.edu 37 17 7158042 7158042 + Missense_Mutation SNP T T C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 17 7158042 7158042 T C SNP ELP5 ENST00000354429 human ensembl 69_37n +1 known missense c.377 p.L126P 1.000 pfam_Histone_acetylation_protein_2 pfam_Histone_acetylation_protein_2 - no_errors ELP5 HGNC ENSG00000170291 156 0 0.00 138 51 26.98 - - - ENSG00000254756 0 genome.wustl.edu 37 11 66103801 66103801 + Splice_Site SNP G G C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 11 66103801 66103801 G C SNP ENSG00000254756 ENST00000526655 human ensembl 69_37n +1 known splice_site c.NULL NULL 0.042 - - - no_errors RP11-867G23.12 Clone_based_vega_gene ENSG00000254756 52 0 0.00 71 20 21.98 - - - EPS15 0 genome.wustl.edu 37 1 51912687 51912687 + Missense_Mutation SNP C C A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 51912687 51912687 C A SNP EPS15 ENST00000371733 human ensembl 69_37n -1 known missense c.742 p.V248F 1.000 smart_EPS15_homology,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_EPS15_homology smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 136 0 0.00 310 97 23.77 - - - ETFA 0 genome.wustl.edu 37 15 76578063 76578063 + Missense_Mutation SNP T T A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 15 76578063 76578063 T A SNP ETFA ENST00000559973 human ensembl 69_37n -1 putative missense c.289 p.S97C 0.987 NULL pfam_ETF_asu_C,pfam_ETF_a/b_N - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ETFA HGNC ENSG00000140374 210 0 0.00 511 91 15.12 - - - FAM135B 0 genome.wustl.edu 37 8 139209858 139209858 + Nonsense_Mutation SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 8 139209858 139209858 G A SNP FAM135B ENST00000395297 human ensembl 69_37n -1 known nonsense c.724 p.R242* 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 152 0 0.00 227 103 31.21 - - - FANCM 0 genome.wustl.edu 37 14 45644732 45644732 + Silent SNP A A G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 14 45644732 45644732 A G SNP FANCM ENST00000267430 human ensembl 69_37n +1 known silent c.2775 p.T925 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 35 0 0.00 71 113 61.41 - - - FGD3 0 genome.wustl.edu 37 9 95738615 95738615 + Missense_Mutation SNP G G T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 9 95738615 95738615 G T SNP FGD3 ENST00000337352 human ensembl 69_37n +1 known missense c.77 p.S26I 0.001 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 30 0 0.00 17 16 48.48 - - - FLNA 0 genome.wustl.edu 37 X 153586901 153586901 + Missense_Mutation SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e X 153586901 153586901 C T SNP FLNA ENST00000369850 human ensembl 69_37n -1 known missense c.4510 p.D1504N 0.999 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 196 1 0.51 88 78 46.99 - - - FMN2 0 genome.wustl.edu 37 1 240601454 240601454 + Silent SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 240601454 240601454 C T SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known silent c.5004 p.F1668 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 158 0 0.00 402 139 25.69 - - - GIMAP8 0 genome.wustl.edu 37 7 150171337 150171337 + Missense_Mutation SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 7 150171337 150171337 C T SNP GIMAP8 ENST00000307271 human ensembl 69_37n +1 known missense c.920 p.S307L 0.000 pfam_AIG1 pfam_AIG1 - no_errors GIMAP8 HGNC ENSG00000171115 76 0 0.00 139 28 16.77 - - - GRIK3 0 genome.wustl.edu 37 1 37270745 37270745 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 37270745 37270745 C G SNP GRIK3 ENST00000373091 human ensembl 69_37n -1 known missense c.2408 p.S803T 1.000 pfam_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 53 0 0.00 63 11 14.86 - - - HDAC2 0 genome.wustl.edu 37 6 114274578 114274578 + Missense_Mutation SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 6 114274578 114274578 G A SNP HDAC2 ENST00000398283 human ensembl 69_37n -1 known missense c.784 p.H262Y 1.000 pfam_His_deacetylse_dom,prints_His_deacetylse_1 pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC2 HGNC ENSG00000196591 108 0 0.00 180 40 18.18 - - - HEATR5A 0 genome.wustl.edu 37 14 31787465 31787465 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 14 31787465 31787465 C G SNP HEATR5A ENST00000389961 human ensembl 69_37n -1 known missense c.3985 p.E1329Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 167 0 0.00 376 55 12.76 - - - HHIPL2 0 genome.wustl.edu 37 1 222717112 222717112 + Missense_Mutation SNP A A T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 222717112 222717112 A T SNP HHIPL2 ENST00000343410 human ensembl 69_37n -1 known missense c.741 p.D247E 0.984 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 120 0 0.00 158 39 19.80 - - - HIAT1 0 genome.wustl.edu 37 1 100535194 100535194 + Missense_Mutation SNP G G C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 100535194 100535194 G C SNP HIAT1 ENST00000370152 human ensembl 69_37n +1 known missense c.844 p.V282L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG,pfscan_MFS_dom - no_errors HIAT1 HGNC ENSG00000156875 262 0 0.00 460 214 31.75 - - - HIST1H1T 0 genome.wustl.edu 37 6 26108318 26108318 + Missense_Mutation SNP A A G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 6 26108318 26108318 A G SNP HIST1H1T ENST00000338379 human ensembl 69_37n -1 known missense c.4 p.S2P 0.994 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1T HGNC ENSG00000187475 56 0 0.00 100 94 48.45 - - - HIST1H2BB 0 genome.wustl.edu 37 6 26043523 26043523 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 6 26043523 26043523 C G SNP HIST1H2BB ENST00000357905 human ensembl 69_37n -1 known missense c.363 p.K121N 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BB HGNC ENSG00000196226 81 0 0.00 152 41 21.24 - - - HIST1H2BB 0 genome.wustl.edu 37 6 26043604 26043604 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 6 26043604 26043604 C G SNP HIST1H2BB ENST00000357905 human ensembl 69_37n -1 known missense c.282 p.E94D 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BB HGNC ENSG00000196226 237 0 0.00 346 100 22.42 - - - HIST1H3A 0 genome.wustl.edu 37 6 26020728 26020728 + Missense_Mutation SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 6 26020728 26020728 C T SNP HIST1H3A ENST00000357647 human ensembl 69_37n +1 known missense c.11 p.T4I 0.989 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3A HGNC ENSG00000198366 143 0 0.00 179 38 17.51 - - - HIST1H3I 0 genome.wustl.edu 37 6 27840056 27840056 + Missense_Mutation SNP C C A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 6 27840056 27840056 C A SNP HIST1H3I ENST00000328488 human ensembl 69_37n -1 known missense c.38 p.G13V 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3I HGNC ENSG00000182572 74 0 0.00 68 19 21.84 - - - HYAL4 0 genome.wustl.edu 37 7 123516844 123516844 + Missense_Mutation SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 7 123516844 123516844 G A SNP HYAL4 ENST00000223026 human ensembl 69_37n +1 known missense c.1081 p.D361N 0.999 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase,prints_Glyco_hydro_56_PH20 - no_errors HYAL4 HGNC ENSG00000106302 196 1 0.51 293 58 16.52 - - - IGHE 0 genome.wustl.edu 37 14 106067884 106067884 + Missense_Mutation SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 14 106067884 106067884 G A SNP IGHE ENST00000390541 human ensembl 69_37n -1 known missense c.182 p.T61M 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon IGHE HGNC ENSG00000211891 319 0 0.00 136 155 53.26 - - - IGKV3-7 0 genome.wustl.edu 37 2 89277990 89277990 + Missense_Mutation SNP T T A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 2 89277990 89277990 T A SNP IGKV3-7 ENST00000390247 human ensembl 69_37n -1 known missense c.345 p.L115F 0.039 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV3-7 HGNC ENSG00000243063 118 0 0.00 145 52 26.40 - - - IMPA1 0 genome.wustl.edu 37 8 82598029 82598029 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 8 82598029 82598029 C G SNP IMPA1 ENST00000449740 human ensembl 69_37n -1 known missense c.122 p.S41T 0.002 NULL pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen,prints_Inositol_monophosphatase - no_errors IMPA1 HGNC ENSG00000133731 207 0 0.00 265 127 32.40 - - - KCNA10 0 genome.wustl.edu 37 1 111060445 111060445 + Missense_Mutation SNP T T A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 111060445 111060445 T A SNP KCNA10 ENST00000369771 human ensembl 69_37n -1 known missense c.965 p.E322V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 180 1 0.55 224 54 19.42 - - - KCNV2 0 genome.wustl.edu 37 9 2729625 2729625 + Silent SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 9 2729625 2729625 C T SNP KCNV2 ENST00000382082 human ensembl 69_37n +1 known silent c.1536 p.R512 0.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 109 0 0.00 267 200 42.83 - - - KLHL24 0 genome.wustl.edu 37 3 183390243 183390243 + Missense_Mutation SNP A A G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 3 183390243 183390243 A G SNP KLHL24 ENST00000242810 human ensembl 69_37n +1 known missense c.1573 p.M525V 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL24 HGNC ENSG00000114796 81 0 0.00 141 48 25.40 - - - KLHL38 0 genome.wustl.edu 37 8 124663967 124663967 + Silent SNP G G T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 8 124663967 124663967 G T SNP KLHL38 ENST00000325995 human ensembl 69_37n -1 known silent c.1200 p.S400 0.986 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 197 0 0.00 340 113 24.94 - - - KLK15 0 genome.wustl.edu 37 19 51330004 51330004 + Missense_Mutation SNP G G T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 19 51330004 51330004 G T SNP KLK15 ENST00000326856 human ensembl 69_37n -1 known missense c.491 p.P164Q 0.534 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK15 HGNC ENSG00000174562 215 0 0.00 250 51 16.94 - - - LDLR 0 genome.wustl.edu 37 19 11216199 11216199 + Missense_Mutation SNP G G T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 19 11216199 11216199 G T SNP LDLR ENST00000558518 human ensembl 69_37n +1 known missense c.617 p.S206I 0.999 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LDLR HGNC ENSG00000130164 55 0 0.00 28 18 39.13 - - - LILRA6 0 genome.wustl.edu 37 19 54744774 54744774 + Nonsense_Mutation SNP G G T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 19 54744774 54744774 G T SNP LILRA6 ENST00000419410 human ensembl 69_37n -1 known nonsense c.888 p.C296* 0.864 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRA6 HGNC ENSG00000244482 214 0 0.00 258 48 15.69 - - - LPGAT1 0 genome.wustl.edu 37 1 211924401 211924401 + Missense_Mutation SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 211924401 211924401 G A SNP LPGAT1 ENST00000366996 human ensembl 69_37n -1 known missense c.863 p.P288L 1.000 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors LPGAT1 HGNC ENSG00000123684 107 0 0.00 184 130 41.40 - - - LRFN5 0 genome.wustl.edu 37 14 42356845 42356845 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 14 42356845 42356845 C G SNP LRFN5 ENST00000298119 human ensembl 69_37n +1 known missense c.1017 p.N339K 0.999 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN5 HGNC ENSG00000165379 115 0 0.00 169 109 39.21 - - - LSM5 0 genome.wustl.edu 37 7 32529929 32529929 + Missense_Mutation SNP T T A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 7 32529929 32529929 T A SNP LSM5 ENST00000223084 human ensembl 69_37n -1 known missense c.49 p.N17Y 0.997 NULL NULL - no_errors LSM5 HGNC ENSG00000106355 194 0 0.00 120 54 30.86 - - - LYST 0 genome.wustl.edu 37 1 235922289 235922289 + Silent SNP T T A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 235922289 235922289 T A SNP LYST ENST00000389793 human ensembl 69_37n -1 known silent c.6864 p.R2288 0.006 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 67 0 0.00 315 38 10.76 - - - MARC2 0 genome.wustl.edu 37 1 220928454 220928454 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 220928454 220928454 C G SNP MARC2 ENST00000366913 human ensembl 69_37n +1 known missense c.438 p.H146Q 0.000 pfam_MOSC_N,superfamily_Pyrv_Knase-like_insert_dom pfam_MOSC_N,pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom - no_errors MARC2 HGNC ENSG00000117791 131 0 0.00 154 74 32.46 - - - MARCH10 0 genome.wustl.edu 37 17 60814611 60814611 + Silent SNP C C A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 17 60814611 60814611 C A SNP MARCH10 ENST00000311269 human ensembl 69_37n -1 known silent c.618 p.S206 0.003 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 284 0 0.00 409 114 21.80 - - - MRFAP1 0 genome.wustl.edu 37 4 6642829 6642829 + Frame_Shift_Del DEL C C - TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 4 6642829 6642829 C - DEL MRFAP1 ENST00000320912 human ensembl 69_37n +1 known frame_shift_del c.240 p.H81fs 0.000 NULL NULL - no_errors MRFAP1 HGNC ENSG00000179010 54 0 0.00 91 21 18.75 - - - MSL1 0 genome.wustl.edu 37 17 38290099 38290099 + Silent SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 17 38290099 38290099 C T SNP MSL1 ENST00000398532 human ensembl 69_37n +1 known silent c.1701 p.T567 1.000 NULL NULL - no_errors MSL1 HGNC ENSG00000188895 322 1 0.31 324 126 28.00 - - - MST4 0 genome.wustl.edu 37 X 131202597 131202597 + Silent SNP A A G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e X 131202597 131202597 A G SNP MST4 ENST00000394334 human ensembl 69_37n +1 known silent c.597 p.K199 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST4 Clone_based_vega_gene ENSG00000134602 35 0 0.00 66 34 34.00 - - - MXRA5 0 genome.wustl.edu 37 X 3241923 3241923 + Silent SNP A A G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e X 3241923 3241923 A G SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known silent c.1803 p.A601 0.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 266 0 0.00 407 76 15.73 - - - MYT1L 0 genome.wustl.edu 37 2 1946873 1946873 + Missense_Mutation SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 2 1946873 1946873 C T SNP MYT1L ENST00000399161 human ensembl 69_37n -1 known missense c.386 p.R129Q 0.990 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 652 0 0.00 782 179 18.61 - - - NAALAD2 0 genome.wustl.edu 37 11 89916133 89916133 + Missense_Mutation SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 11 89916133 89916133 G A SNP NAALAD2 ENST00000534061 human ensembl 69_37n +1 known missense c.1990 p.A664T 1.000 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 135 0 0.00 314 68 17.80 - - - NBPF10 0 genome.wustl.edu 37 1 145323656 145323656 + Missense_Mutation SNP A A T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 145323656 145323656 A T SNP NBPF10 ENST00000342960 human ensembl 69_37n +1 known missense c.3493 p.I1165F 0.007 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 35 0 0.00 176 38 17.76 - - - NCSTN 0 genome.wustl.edu 37 1 160314596 160314596 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 160314596 160314596 C G SNP NCSTN ENST00000294785 human ensembl 69_37n +1 known missense c.170 p.T57S 1.000 NULL pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 172 0 0.00 380 65 14.61 - - - NDRG4 0 genome.wustl.edu 37 16 58543214 58543214 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 16 58543214 58543214 C G SNP NDRG4 ENST00000394282 human ensembl 69_37n +1 known missense c.979 p.L327V 1.000 pfam_Ndr pfam_Ndr - no_errors NDRG4 HGNC ENSG00000103034 166 0 0.00 168 47 21.76 - - - NFKB2 0 genome.wustl.edu 37 10 104158163 104158163 + Frame_Shift_Del DEL C C - TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 10 104158163 104158163 C - DEL NFKB2 ENST00000189444 human ensembl 69_37n +1 known frame_shift_del c.874 p.Y294fs 1.000 superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NF_Rel_dor pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt - no_errors NFKB2 HGNC ENSG00000077150 310 0 0.00 248 91 26.15 - - - NPDC1 0 genome.wustl.edu 37 9 139935565 139935565 + Missense_Mutation SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 9 139935565 139935565 C T SNP NPDC1 ENST00000371600 human ensembl 69_37n -1 known missense c.568 p.G190R 0.007 pfam_NPDC1 pfam_NPDC1 - no_errors NPDC1 HGNC ENSG00000107281 77 0 0.00 74 15 16.85 - - - NR5A2 0 genome.wustl.edu 37 1 200017390 200017390 + Missense_Mutation SNP T T A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 200017390 200017390 T A SNP NR5A2 ENST00000367362 human ensembl 69_37n +1 known missense c.554 p.L185H 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,pirsf_Steroidogenic_factor_1 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,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 146 1 0.67 297 52 14.90 - - - NSFL1C 0 genome.wustl.edu 37 20 1434913 1434913 + Missense_Mutation SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 20 1434913 1434913 G A SNP NSFL1C ENST00000350991 human ensembl 69_37n -1 known missense c.488 p.P163L 1.000 NULL pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors NSFL1C HGNC ENSG00000088833 135 0 0.00 316 49 13.42 - - - OR10Q1 0 genome.wustl.edu 37 11 57996010 57996010 + Missense_Mutation SNP C C A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 11 57996010 57996010 C A SNP OR10Q1 ENST00000316770 human ensembl 69_37n -1 known missense c.338 p.S113I 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 167 0 0.00 185 51 21.61 - - - OR2A4 0 genome.wustl.edu 37 6 132022337 132022337 + Missense_Mutation SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 6 132022337 132022337 C T SNP OR2A4 ENST00000315453 human ensembl 69_37n -1 known missense c.205 p.D69N 0.919 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors OR2A4 HGNC ENSG00000180658 30 0 0.00 29 9 23.68 - - - OR3A1 0 genome.wustl.edu 37 17 3195848 3195848 + Missense_Mutation SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 17 3195848 3195848 G A SNP OR3A1 ENST00000323404 human ensembl 69_37n -1 known missense c.29 p.T10I 0.171 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR3A1 HGNC ENSG00000180090 54 0 0.00 75 13 14.77 - - - OR5I1 0 genome.wustl.edu 37 11 55703812 55703812 + Missense_Mutation SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 11 55703812 55703812 C T SNP OR5I1 ENST00000301532 human ensembl 69_37n -1 known missense c.65 p.R22H 0.003 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 29 0 0.00 64 53 45.30 - - - PAGE2 0 genome.wustl.edu 37 X 55117826 55117826 + Silent SNP A A G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e X 55117826 55117826 A G SNP PAGE2 ENST00000374968 human ensembl 69_37n +1 known silent c.255 p.G85 0.000 pfam_GAGE pfam_GAGE - no_errors PAGE2 HGNC ENSG00000234068 579 2 0.34 748 237 24.06 - - - PI4KA 0 genome.wustl.edu 37 22 21173951 21173951 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 22 21173951 21173951 C G SNP PI4KA ENST00000255882 human ensembl 69_37n -1 known missense c.767 p.S256T 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 68 0 0.00 51 65 56.03 - - - PIANP 0 genome.wustl.edu 37 12 6804780 6804780 + Missense_Mutation SNP G G T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 12 6804780 6804780 G T SNP PIANP ENST00000320591 human ensembl 69_37n -1 known missense c.643 p.Q215K 1.000 NULL NULL - no_errors PIANP HGNC ENSG00000139200 35 0 0.00 24 9 27.27 - - - PIK3CD 0 genome.wustl.edu 37 1 9777151 9777151 + Silent SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 9777151 9777151 C G SNP PIK3CD ENST00000536656 human ensembl 69_37n +1 known silent c.810 p.P270 0.315 smart_PI3K_Ras-bd_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-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 PIK3CD HGNC ENSG00000171608 140 0 0.00 92 34 26.98 - - - PIN1P1 0 genome.wustl.edu 37 1 70385493 70385493 + RNA SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 70385493 70385493 C T SNP PIN1P1 ENST00000412108 human ensembl 69_37n +1 known rna NULL NULL 0.293 - - - no_errors PIN1P1 HGNC ENSG00000229359 64 0 0.00 59 20 25.32 - - - PLA2G2C 0 genome.wustl.edu 37 1 20501650 20501650 + Missense_Mutation SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 20501650 20501650 G A SNP PLA2G2C ENST00000247992 human ensembl 69_37n -1 known missense c.38 p.S13L 0.000 NULL pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk - no_errors PLA2G2C HGNC ENSG00000187980 189 0 0.00 200 62 23.57 - - - PPP1R13L 0 genome.wustl.edu 37 19 45900186 45900186 + Missense_Mutation SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 19 45900186 45900186 C T SNP PPP1R13L ENST00000360957 human ensembl 69_37n -1 known missense c.329 p.S110N 0.996 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 PPP1R13L HGNC ENSG00000104881 82 0 0.00 74 12 13.95 - - - PVRIG 0 genome.wustl.edu 37 7 99818572 99818572 + Missense_Mutation SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 7 99818572 99818572 G A SNP PVRIG ENST00000317271 human ensembl 69_37n +1 known missense c.679 p.A227T 0.000 NULL NULL - no_errors PVRIG HGNC ENSG00000213413 118 0 0.00 203 40 16.33 - - - RGS3 0 genome.wustl.edu 37 9 116356374 116356374 + Missense_Mutation SNP T T C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 9 116356374 116356374 T C SNP RGS3 ENST00000462403 human ensembl 69_37n +1 known missense c.175 p.S59P 1.000 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC ENSG00000138835 48 0 0.00 39 12 23.53 - - - SDHAP2 0 genome.wustl.edu 37 3 195390960 195390960 + RNA SNP G G C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 3 195390960 195390960 G C SNP SDHAP2 ENST00000429897 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SDHAP2 HGNC ENSG00000215837 194 0 0.00 247 73 22.81 - - - SELL 0 genome.wustl.edu 37 1 169670813 169670813 + Missense_Mutation SNP G G T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 169670813 169670813 G T SNP SELL ENST00000236147 human ensembl 69_37n -1 known missense c.1008 p.F336L 0.627 pirsf_L-selectin pirsf_L-selectin,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EGF-like,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 83 0 0.00 321 57 15.08 - - - SIDT2 0 genome.wustl.edu 37 11 117060946 117060946 + Missense_Mutation SNP A A C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 11 117060946 117060946 A C SNP SIDT2 ENST00000278951 human ensembl 69_37n +1 known missense c.1621 p.I541L 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 264 2 0.75 343 78 18.53 - - - SIM1 0 genome.wustl.edu 37 6 100897470 100897470 + Missense_Mutation SNP G G T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 6 100897470 100897470 G T SNP SIM1 ENST00000262901 human ensembl 69_37n -1 known missense c.454 p.Q152K 1.000 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors SIM1 HGNC ENSG00000112246 208 0 0.00 177 53 23.04 - - - SLCO1C1 0 genome.wustl.edu 37 12 20858927 20858927 + Missense_Mutation SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 12 20858927 20858927 C T SNP SLCO1C1 ENST00000381552 human ensembl 69_37n +1 known missense c.316 p.L106F 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 145 0 0.00 192 71 27.00 - - - SLX4 0 genome.wustl.edu 37 16 3632422 3632422 + Missense_Mutation SNP G G C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 16 3632422 3632422 G C SNP SLX4 ENST00000294008 human ensembl 69_37n -1 known missense c.5426 p.T1809S 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 52 0 0.00 44 10 18.18 - - - SMTNL1 0 genome.wustl.edu 37 11 57313409 57313409 + Nonsense_Mutation SNP G G T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 11 57313409 57313409 G T SNP SMTNL1 ENST00000457912 human ensembl 69_37n +1 known nonsense c.1027 p.E343* 0.235 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC ENSG00000214872 59 0 0.00 94 28 22.95 - - - SPAG17 0 genome.wustl.edu 37 1 118623811 118623811 + Missense_Mutation SNP T T C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 118623811 118623811 T C SNP SPAG17 ENST00000336338 human ensembl 69_37n -1 known missense c.2122 p.N708D 0.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 243 0 0.00 363 113 23.74 - - - SPATA17 0 genome.wustl.edu 37 1 217842375 217842375 + Missense_Mutation SNP G G T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 217842375 217842375 G T SNP SPATA17 ENST00000366933 human ensembl 69_37n +1 known missense c.241 p.V81L 0.998 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 214 1 0.47 565 105 15.67 - - - SRRM2 0 genome.wustl.edu 37 16 2816694 2816694 + Missense_Mutation SNP A A C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 16 2816694 2816694 A C SNP SRRM2 ENST00000301740 human ensembl 69_37n +1 known missense c.6165 p.R2055S 0.633 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 71 0 0.00 86 19 18.10 - - - SRRT 0 genome.wustl.edu 37 7 100485995 100485995 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 7 100485995 100485995 C G SNP SRRT ENST00000388793 human ensembl 69_37n +1 known missense c.2543 p.P848R 1.000 pfam_Arsenite-R_2 pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 133 0 0.00 189 45 19.15 - - - STAT4 0 genome.wustl.edu 37 2 191898277 191898277 + Missense_Mutation SNP T T A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 2 191898277 191898277 T A SNP STAT4 ENST00000358470 human ensembl 69_37n -1 known missense c.1791 p.L597F 0.916 pfam_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 110 0 0.00 175 70 28.46 - - - SUPT6H 0 genome.wustl.edu 37 17 27028471 27028471 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 17 27028471 27028471 C G SNP SUPT6H ENST00000314616 human ensembl 69_37n +1 known missense c.5009 p.A1670G 1.000 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 85 0 0.00 78 30 27.78 - - - TAF6 0 genome.wustl.edu 37 7 99707866 99707866 + Missense_Mutation SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 7 99707866 99707866 G A SNP TAF6 ENST00000344095 human ensembl 69_37n -1 known missense c.1115 p.T372I 0.969 pfam_DUF1546,superfamily_ARM-type_fold pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 287 0 0.00 376 89 19.14 - - - TIA1 0 genome.wustl.edu 37 2 70454946 70454946 + Missense_Mutation SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 2 70454946 70454946 G A SNP TIA1 ENST00000433529 human ensembl 69_37n -1 known missense c.319 p.H107Y 1.000 smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIA1 HGNC ENSG00000116001 119 0 0.00 154 62 28.70 - - - TMEM66 0 genome.wustl.edu 37 8 29924354 29924354 + Missense_Mutation SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 8 29924354 29924354 G A SNP TMEM66 ENST00000256255 human ensembl 69_37n -1 known missense c.781 p.P261S 0.998 pfam_DUF1183_TMEM66 pfam_DUF1183_TMEM66 - no_errors TMEM66 HGNC ENSG00000133872 334 1 0.30 542 107 16.46 - - - TP53 0 genome.wustl.edu 37 17 7578265 7578265 + Missense_Mutation SNP A A G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 17 7578265 7578265 A G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.584 p.I195T 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 272 0 0.00 150 180 54.55 - - - TRAF7 0 genome.wustl.edu 37 16 2226284 2226285 + Frame_Shift_Del DEL AT AT - TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 16 2226284 2226285 AT - DEL TRAF7 ENST00000326181 human ensembl 69_37n +1 known frame_shift_del c.1897_1898 p.M633fs 1.000:1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 43 0 0.00 48 10 17.24 - - - TRO 0 genome.wustl.edu 37 X 54949939 54949939 + Missense_Mutation SNP T T A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e X 54949939 54949939 T A SNP TRO ENST00000173898 human ensembl 69_37n +1 known missense c.974 p.I325K 0.404 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 37 0 0.00 66 17 20.48 - - - TSPAN12 0 genome.wustl.edu 37 7 120428909 120428909 + Nonsense_Mutation SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 7 120428909 120428909 G A SNP TSPAN12 ENST00000222747 human ensembl 69_37n -1 known nonsense c.655 p.Q219* 1.000 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN12 HGNC ENSG00000106025 59 0 0.00 196 40 16.95 - - - TSPAN31 0 genome.wustl.edu 37 12 58140421 58140421 + Missense_Mutation SNP A A G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 12 58140421 58140421 A G SNP TSPAN31 ENST00000257910 human ensembl 69_37n +1 known missense c.362 p.D121G 0.987 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,prints_Tetraspanin - no_errors TSPAN31 HGNC ENSG00000135452 227 0 0.00 230 92 28.57 - - - TTC18 0 genome.wustl.edu 37 10 75071672 75071672 + Missense_Mutation SNP G G C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 10 75071672 75071672 G C SNP TTC18 ENST00000310715 human ensembl 69_37n -1 known missense c.1294 p.Q432E 0.158 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 106 0 0.00 164 42 20.39 - - - UBA1 0 genome.wustl.edu 37 X 47061807 47061807 + Silent SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e X 47061807 47061807 C T SNP UBA1 ENST00000335972 human ensembl 69_37n +1 known silent c.960 p.F320 0.938 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 285 0 0.00 315 136 30.09 - - - UBAP2 0 genome.wustl.edu 37 9 33935827 33935827 + Missense_Mutation SNP C C T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 9 33935827 33935827 C T SNP UBAP2 ENST00000379225 human ensembl 69_37n -1 known missense c.878 p.S293N 0.000 NULL pfam_DUF3697_Uba2 - no_errors UBAP2 HGNC ENSG00000137073 115 0 0.00 205 60 22.64 - - - UBQLN4 0 genome.wustl.edu 37 1 156012608 156012608 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 156012608 156012608 C G SNP UBQLN4 ENST00000368309 human ensembl 69_37n -1 known missense c.1223 p.S408T 1.000 superfamily_XPC-bd,smart_STI1_HS-bd pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN4 HGNC ENSG00000160803 271 0 0.00 521 101 16.24 - - - USP34 0 genome.wustl.edu 37 2 61520625 61520625 + Missense_Mutation SNP G G C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 2 61520625 61520625 G C SNP USP34 ENST00000398571 human ensembl 69_37n -1 known missense c.4522 p.P1508A 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 117 0 0.00 329 49 12.96 - - - VCX3B 0 genome.wustl.edu 37 X 8434392 8434392 + Nonsense_Mutation SNP G G T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e X 8434392 8434392 G T SNP VCX3B ENST00000444481 human ensembl 69_37n +1 known nonsense c.619 p.E207* 0.909 NULL NULL - no_errors VCX3B HGNC ENSG00000205642 431 1 0.23 561 178 24.05 - - - VILL 0 genome.wustl.edu 37 3 38039808 38039808 + Missense_Mutation SNP C C A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 3 38039808 38039808 C A SNP VILL ENST00000283713 human ensembl 69_37n +1 known missense c.895 p.R299S 0.994 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors VILL HGNC ENSG00000136059 218 1 0.45 121 134 52.55 - - - VWA3B 0 genome.wustl.edu 37 2 98834413 98834413 + Missense_Mutation SNP G G C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 2 98834413 98834413 G C SNP VWA3B ENST00000477737 human ensembl 69_37n +1 known missense c.1941 p.E647D 0.555 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 310 0 0.00 505 145 22.27 - - - WDR20 0 genome.wustl.edu 37 14 102606230 102606230 + RNA SNP A A C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 14 102606230 102606230 A C SNP WDR20 ENST00000561154 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors WDR20 HGNC ENSG00000140153 95 0 0.00 81 16 16.49 - - - ZNF174 0 genome.wustl.edu 37 16 3458760 3458760 + Silent SNP G G A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 16 3458760 3458760 G A SNP ZNF174 ENST00000268655 human ensembl 69_37n +1 known silent c.1065 p.T355 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF174 HGNC ENSG00000103343 81 0 0.00 127 39 23.49 - - - ZNF318 0 genome.wustl.edu 37 6 43304909 43304909 + Missense_Mutation SNP C C G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 6 43304909 43304909 C G SNP ZNF318 ENST00000361428 human ensembl 69_37n -1 known missense c.6827 p.S2276T 0.712 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 152 1 0.65 325 73 18.34 - - - ZNF462 0 genome.wustl.edu 37 9 109773238 109773238 + Missense_Mutation SNP A A G TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 9 109773238 109773238 A G SNP ZNF462 ENST00000457913 human ensembl 69_37n +1 known missense c.7628 p.N2543S 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 61 0 0.00 87 97 52.72 - - - ZNF687 0 genome.wustl.edu 37 1 151261078 151261079 + Frame_Shift_Ins INS - - C TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 151261078 151261079 - C INS ZNF687 ENST00000324048 human ensembl 69_37n +1 known frame_shift_ins c.2190_2191 p.H732fs 0.407:0.430 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 125 0 0.00 261 31 10.62 - - - ZNF687 0 genome.wustl.edu 37 1 151262465 151262465 + Missense_Mutation SNP G G T TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 1 151262465 151262465 G T SNP ZNF687 ENST00000324048 human ensembl 69_37n +1 known missense c.2946 p.M982I 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 64 0 0.00 80 23 22.33 - - - ZNF774 0 genome.wustl.edu 37 15 90904480 90904482 + In_Frame_Del DEL CAT CAT - TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 CAT CAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 878337fe-9f41-44f5-9760-3977e7d75308 47723567-39d1-40e9-a8ea-1bf9548db03e 15 90904480 90904482 CAT - DEL ZNF774 ENST00000354377 human ensembl 69_37n +1 known in_frame_del c.1417_1419 p.H473in_frame_del 0.305:0.665:0.813 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF774 HGNC ENSG00000196391 69 0 0.00 158 27 14.59 - - -