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 ALPK1 0 genome.wustl.edu 37 4 113362126 113362126 + Missense_Mutation SNP C C G TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 4 113362126 113362126 C G SNP ALPK1 ENST00000177648 human ensembl 69_37n +1 known missense c.3592 p.H1198D 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 193 0 0.00 139 34 19.65 - - - ANAPC1 0 genome.wustl.edu 37 2 112566736 112566736 + Nonsense_Mutation SNP C C T TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 2 112566736 112566736 C T SNP ANAPC1 ENST00000427997 human ensembl 69_37n -1 novel nonsense c.2223 p.W741* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ANAPC1 HGNC ENSG00000153107 124 0 0.00 99 20 16.81 - - - ARFGAP3 0 genome.wustl.edu 37 22 43227644 43227644 + Splice_Site SNP T T G TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 22 43227644 43227644 T G SNP ARFGAP3 ENST00000263245 human ensembl 69_37n -1 known splice_site c.478-2 e6-2 0.984 - - - no_errors ARFGAP3 HGNC ENSG00000242247 123 0 0.00 86 38 30.65 - - - BBS7 0 genome.wustl.edu 37 4 122776652 122776652 + Missense_Mutation SNP C C A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 4 122776652 122776652 C A SNP BBS7 ENST00000264499 human ensembl 69_37n -1 known missense c.593 p.G198V 1.000 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 185 0 0.00 140 44 23.91 - - - BCAT2 0 genome.wustl.edu 37 19 49310293 49310293 + Silent SNP C C G TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 19 49310293 49310293 C G SNP BCAT2 ENST00000316273 human ensembl 69_37n -1 known silent c.63 p.L21 0.739 NULL pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 77 0 0.00 67 25 27.17 - - - CACNA1G 0 genome.wustl.edu 37 17 48668853 48668853 + Silent SNP C C A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 17 48668853 48668853 C A SNP CACNA1G ENST00000359106 human ensembl 69_37n +1 known silent c.2511 p.R837 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 67 0 0.00 38 9 19.15 - - - CHD8 0 genome.wustl.edu 37 14 21862192 21862192 + Missense_Mutation SNP G G T TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 14 21862192 21862192 G T SNP CHD8 ENST00000399982 human ensembl 69_37n -1 known missense c.5762 p.P1921H 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 CHD8 HGNC ENSG00000100888 42 0 0.00 21 4 16.00 - - - CLEC10A 0 genome.wustl.edu 37 17 6978532 6978532 + Missense_Mutation SNP C C A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 17 6978532 6978532 C A SNP CLEC10A ENST00000254868 human ensembl 69_37n -1 known missense c.792 p.K264N 0.000 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 33 0 0.00 11 6 33.33 - - - CUBN 0 genome.wustl.edu 37 10 16893319 16893322 + Frame_Shift_Del DEL ACAG ACAG - TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 ACAG ACAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 10 16893319 16893322 ACAG - DEL CUBN ENST00000377833 human ensembl 69_37n -1 known frame_shift_del c.9578_9575 p.P3192fs 0.575:0.554:0.546:0.993 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 232 0 0.00 164 39 18.93 - - - DCAF17 0 genome.wustl.edu 37 2 172336674 172336674 + Missense_Mutation SNP A A C TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 2 172336674 172336674 A C SNP DCAF17 ENST00000375255 human ensembl 69_37n +1 known missense c.1393 p.S465R 1.000 NULL NULL - no_errors DCAF17 HGNC ENSG00000115827 373 0 0.00 266 76 22.22 - - - DCAF8L2 0 genome.wustl.edu 37 X 27765438 27765438 + Silent SNP G G A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 X 27765438 27765438 G A SNP DCAF8L2 ENST00000451261 human ensembl 69_37n +1 known silent c.426 p.E142 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 25 0 0.00 19 6 23.08 - - - DDX11 0 genome.wustl.edu 37 12 31256888 31256888 + Missense_Mutation SNP G G A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 12 31256888 31256888 G A SNP DDX11 ENST00000407793 human ensembl 69_37n +1 known missense c.2834 p.R945K 0.000 NULL pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 121 0 0.00 73 31 29.81 - - - DLG1 0 genome.wustl.edu 37 3 196857476 196857476 + Missense_Mutation SNP C C A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 3 196857476 196857476 C A SNP DLG1 ENST00000346964 human ensembl 69_37n -1 known missense c.1186 p.D396Y 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG1 HGNC ENSG00000075711 330 0 0.00 222 62 21.83 - - - EDEM3 0 genome.wustl.edu 37 1 184681731 184681731 + Missense_Mutation SNP T T G TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 1 184681731 184681731 T G SNP EDEM3 ENST00000318130 human ensembl 69_37n -1 known missense c.1372 p.M458L 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 206 0 0.00 259 53 16.99 - - - ERBB2IP 0 genome.wustl.edu 37 5 65372231 65372231 + Missense_Mutation SNP G G A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 5 65372231 65372231 G A SNP ERBB2IP ENST00000284037 human ensembl 69_37n +1 known missense c.4051 p.D1351N 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 421 0 0.00 286 88 23.53 - - - ERF 0 genome.wustl.edu 37 19 42753286 42753286 + Silent SNP G G A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 19 42753286 42753286 G A SNP ERF ENST00000222329 human ensembl 69_37n -1 known silent c.978 p.L326 1.000 NULL pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ERF HGNC ENSG00000105722 78 0 0.00 41 19 31.67 - - - GATA3 0 genome.wustl.edu 37 10 8115982 8115983 + Frame_Shift_Ins INS - - T TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 10 8115982 8115983 - T INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1331_1332 p.*445fs 1.000:0.913 NULL pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 89 0 0.00 57 12 17.39 - - - HERC1 0 genome.wustl.edu 37 15 64017562 64017562 + Missense_Mutation SNP T T A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 15 64017562 64017562 T A SNP HERC1 ENST00000443617 human ensembl 69_37n -1 known missense c.3497 p.E1166V 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 113 0 0.00 131 35 20.83 - - - IGF2R 0 genome.wustl.edu 37 6 160500677 160500677 + Silent SNP A A G TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 6 160500677 160500677 A G SNP IGF2R ENST00000356956 human ensembl 69_37n +1 known silent c.5544 p.G1848 0.973 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom 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 160 0 0.00 114 33 22.45 - - - IGSF8 0 genome.wustl.edu 37 1 160064882 160064882 + Missense_Mutation SNP A A C TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 1 160064882 160064882 A C SNP IGSF8 ENST00000314485 human ensembl 69_37n -1 known missense c.219 p.D73E 0.001 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors IGSF8 HGNC ENSG00000162729 68 0 0.00 50 15 23.08 - - - JARID2 0 genome.wustl.edu 37 6 15374373 15374373 + Missense_Mutation SNP C C T TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 6 15374373 15374373 C T SNP JARID2 ENST00000341776 human ensembl 69_37n +1 known missense c.71 p.S24L 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 362 0 0.00 250 76 23.31 - - - KIAA1919 0 genome.wustl.edu 37 6 111587599 111587599 + Missense_Mutation SNP T T G TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 6 111587599 111587599 T G SNP KIAA1919 ENST00000368847 human ensembl 69_37n +1 known missense c.834 p.F278L 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 239 2 0.83 172 56 24.56 - - - KPNB1 0 genome.wustl.edu 37 17 45754386 45754386 + Missense_Mutation SNP G G C TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 17 45754386 45754386 G C SNP KPNB1 ENST00000290158 human ensembl 69_37n +1 known missense c.1996 p.V666L 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 355 0 0.00 303 94 23.68 - - - KRTAP9-7 0 genome.wustl.edu 37 17 39432019 39432019 + Missense_Mutation SNP G G A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 17 39432019 39432019 G A SNP KRTAP9-7 ENST00000391354 human ensembl 69_37n +1 known missense c.70 p.V24M 0.028 NULL NULL - no_errors KRTAP9-7 HGNC ENSG00000180386 126 1 0.79 125 43 25.60 - - - LAS1L 0 genome.wustl.edu 37 X 64734716 64734716 + Missense_Mutation SNP T T A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 X 64734716 64734716 T A SNP LAS1L ENST00000374811 human ensembl 69_37n -1 known missense c.2065 p.T689S 0.000 NULL pfam_Las1 - no_errors LAS1L HGNC ENSG00000001497 80 0 0.00 46 18 28.12 - - - LINC00479 0 genome.wustl.edu 37 21 43133777 43133777 + RNA SNP G G T TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 21 43133777 43133777 G T SNP LINC00479 ENST00000412102 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors LINC00479 HGNC ENSG00000236384 31 0 0.00 29 4 12.12 - - - LRIG3 0 genome.wustl.edu 37 12 59283825 59283825 + Missense_Mutation SNP G G C TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 12 59283825 59283825 G C SNP LRIG3 ENST00000320743 human ensembl 69_37n -1 known missense c.612 p.I204M 0.976 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG3 HGNC ENSG00000139263 450 1 0.22 364 129 26.17 - - - LRRC16B 0 genome.wustl.edu 37 14 24538364 24538364 + Missense_Mutation SNP G G A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 14 24538364 24538364 G A SNP LRRC16B ENST00000342740 human ensembl 69_37n +1 known missense c.4001 p.R1334Q 0.968 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 24 0 0.00 18 6 25.00 - - - MAN2B1 0 genome.wustl.edu 37 19 12768878 12768878 + Silent SNP G G C TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 19 12768878 12768878 G C SNP MAN2B1 ENST00000456935 human ensembl 69_37n -1 known silent c.1308 p.L436 0.998 pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 14 0 0.00 12 6 33.33 - - - MAN2B1 0 genome.wustl.edu 37 19 12769137 12769137 + Missense_Mutation SNP G G C TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 19 12769137 12769137 G C SNP MAN2B1 ENST00000456935 human ensembl 69_37n -1 known missense c.1131 p.F377L 1.000 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 60 0 0.00 40 12 23.08 - - - MAN2B1 0 genome.wustl.edu 37 19 12769247 12769247 + Silent SNP G G A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 19 12769247 12769247 G A SNP MAN2B1 ENST00000456935 human ensembl 69_37n -1 known silent c.1104 p.L368 1.000 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 80 0 0.00 60 24 28.57 - - - MCM4 0 genome.wustl.edu 37 8 48878885 48878885 + Missense_Mutation SNP A A T TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 8 48878885 48878885 A T SNP MCM4 ENST00000262105 human ensembl 69_37n +1 known missense c.971 p.E324V 1.000 superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 19 0 0.00 15 5 25.00 - - - MMAA 0 genome.wustl.edu 37 4 146560633 146560633 + Missense_Mutation SNP G G T TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 4 146560633 146560633 G T SNP MMAA ENST00000281317 human ensembl 69_37n +1 known missense c.342 p.R114S 1.000 pfam_ArgK,tigrfam_ArgK pfam_ArgK,pfam_Cbl_biosynth_CobW-like,tigrfam_ArgK - no_errors MMAA HGNC ENSG00000151611 125 0 0.00 84 31 26.96 - - - MUC16 0 genome.wustl.edu 37 19 9091544 9091544 + Missense_Mutation SNP A A G TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 19 9091544 9091544 A G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.271 p.S91P 0.002 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 164 0 0.00 105 34 24.46 - - - NIPAL4 0 genome.wustl.edu 37 5 156899862 156899862 + Missense_Mutation SNP C C A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 5 156899862 156899862 C A SNP NIPAL4 ENST00000311946 human ensembl 69_37n +1 known missense c.1295 p.P432H 0.991 NULL pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL4 HGNC ENSG00000172548 42 0 0.00 33 18 34.62 - - - NR2C2 0 genome.wustl.edu 37 3 15065706 15065706 + Silent SNP G G A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 3 15065706 15065706 G A SNP NR2C2 ENST00000323373 human ensembl 69_37n +1 known silent c.846 p.T282 0.230 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 143 0 0.00 81 26 24.30 - - - ODZ1 0 genome.wustl.edu 37 X 123630873 123630873 + Missense_Mutation SNP C C T TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 X 123630873 123630873 C T SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known missense c.3688 p.E1230K 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 92 0 0.00 56 24 30.00 - - - OR13C8 0 genome.wustl.edu 37 9 107331596 107331596 + Missense_Mutation SNP A A G TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 9 107331596 107331596 A G SNP OR13C8 ENST00000335040 human ensembl 69_37n +1 known missense c.148 p.I50V 0.046 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 OR13C8 HGNC ENSG00000186943 589 1 0.17 408 167 28.94 - - - OR13C8 0 genome.wustl.edu 37 9 107332384 107332384 + Nonsense_Mutation SNP T T A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 9 107332384 107332384 T A SNP OR13C8 ENST00000335040 human ensembl 69_37n +1 known nonsense c.936 p.C312* 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR13C8 HGNC ENSG00000186943 51 0 0.00 44 18 29.03 - - - OR13C8 0 genome.wustl.edu 37 9 107332385 107332385 + Missense_Mutation SNP A A G TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 9 107332385 107332385 A G SNP OR13C8 ENST00000335040 human ensembl 69_37n +1 known missense c.937 p.R313G 0.126 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR13C8 HGNC ENSG00000186943 51 0 0.00 45 18 28.57 - - - OR8H2 0 genome.wustl.edu 37 11 55872586 55872586 + Missense_Mutation SNP A A G TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 11 55872586 55872586 A G SNP OR8H2 ENST00000313503 human ensembl 69_37n +1 known missense c.68 p.E23G 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 402 1 0.25 319 91 22.20 - - - PALM3 0 genome.wustl.edu 37 19 14168164 14168164 + Frame_Shift_Del DEL T T - TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 19 14168164 14168164 T - DEL PALM3 ENST00000340790 human ensembl 69_37n -1 known frame_shift_del c.125 p.K42fs 1.000 NULL NULL - no_errors PALM3 HGNC ENSG00000187867 8 0 0.00 4 2 33.33 - - - PDE4DIP 0 genome.wustl.edu 37 1 144882723 144882723 + Missense_Mutation SNP T T G TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 1 144882723 144882723 T G SNP PDE4DIP ENST00000369356 human ensembl 69_37n -1 known missense c.3296 p.Q1099P 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 713 0 0.00 580 72 11.04 - - - PGLS 0 genome.wustl.edu 37 19 17627089 17627089 + Silent SNP G G A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 19 17627089 17627089 G A SNP PGLS ENST00000252603 human ensembl 69_37n +1 known silent c.396 p.Q132 1.000 tigrfam_6-phosphogluconolactonase_DevB tigrfam_6-phosphogluconolactonase_DevB - no_errors PGLS HGNC ENSG00000130313 49 0 0.00 39 12 23.53 - - - PRDM15 0 genome.wustl.edu 37 21 43291676 43291676 + Frame_Shift_Del DEL C C - TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 21 43291676 43291676 C - DEL PRDM15 ENST00000269844 human ensembl 69_37n -1 known frame_shift_del c.468 p.N157fs 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 85 0 0.00 55 19 25.33 - - - PTPRU 0 genome.wustl.edu 37 1 29652166 29652166 + Nonsense_Mutation SNP C C A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 1 29652166 29652166 C A SNP PTPRU ENST00000345512 human ensembl 69_37n +1 known nonsense c.4334 p.S1445* 0.974 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRU HGNC ENSG00000060656 148 0 0.00 92 38 29.23 - - - RAB3GAP2 0 genome.wustl.edu 37 1 220355687 220355687 + Missense_Mutation SNP A A C TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 1 220355687 220355687 A C SNP RAB3GAP2 ENST00000358951 human ensembl 69_37n -1 known missense c.2222 p.F741C 1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 137 0 0.00 197 36 15.45 - - - RIF1 0 genome.wustl.edu 37 2 152299782 152299782 + Missense_Mutation SNP G G A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 2 152299782 152299782 G A SNP RIF1 ENST00000243326 human ensembl 69_37n +1 known missense c.1744 p.A582T 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 346 0 0.00 208 67 24.36 - - - RPAP2 0 genome.wustl.edu 37 1 92789908 92789908 + Silent SNP C C T TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 1 92789908 92789908 C T SNP RPAP2 ENST00000370343 human ensembl 69_37n +1 known silent c.1431 p.T477 0.034 NULL pfam_DUF408 - no_errors RPAP2 HGNC ENSG00000122484 57 0 0.00 24 21 46.67 - - - RXRG 0 genome.wustl.edu 37 1 165398094 165398094 + Silent SNP T T G TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 1 165398094 165398094 T G SNP RXRG ENST00000359842 human ensembl 69_37n -1 known silent c.159 p.P53 0.287 pfam_DUF3345 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF - no_errors RXRG HGNC ENSG00000143171 71 0 0.00 64 17 20.99 - - - SASH1 0 genome.wustl.edu 37 6 148867225 148867225 + Silent SNP C C T TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 6 148867225 148867225 C T SNP SASH1 ENST00000367467 human ensembl 69_37n +1 known silent c.3423 p.V1141 0.102 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 51 0 0.00 26 10 27.03 - - - SEC31A 0 genome.wustl.edu 37 4 83795849 83795849 + Missense_Mutation SNP G G A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 4 83795849 83795849 G A SNP SEC31A ENST00000432794 human ensembl 69_37n -1 known missense c.554 p.A185V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 166 0 0.00 107 28 20.59 - - - SLCO5A1 0 genome.wustl.edu 37 8 70585135 70585135 + Missense_Mutation SNP T T C TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 8 70585135 70585135 T C SNP SLCO5A1 ENST00000260126 human ensembl 69_37n -1 known missense c.2516 p.E839G 0.998 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 89 0 0.00 59 20 25.32 - - - TEX26 0 genome.wustl.edu 37 13 31543174 31543174 + Missense_Mutation SNP T T C TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 13 31543174 31543174 T C SNP TEX26 ENST00000380473 human ensembl 69_37n +1 known missense c.799 p.S267P 0.982 NULL NULL - no_errors TEX26 HGNC ENSG00000175664 227 1 0.44 107 54 33.33 - - - TEX33 0 genome.wustl.edu 37 22 37387521 37387521 + Splice_Site DEL C C - TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 22 37387521 37387521 C - DEL TEX33 ENST00000381821 human ensembl 69_37n -1 known splice_site_del c.745+1 e4+1 1.000 - - - no_errors TEX33 HGNC ENSG00000185264 198 0 0.00 136 35 20.47 - - - TRIM38 0 genome.wustl.edu 37 6 25973465 25973465 + Missense_Mutation SNP G G T TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 6 25973465 25973465 G T SNP TRIM38 ENST00000349458 human ensembl 69_37n +1 known missense c.826 p.V276F 0.350 pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM38 HGNC ENSG00000112343 262 0 0.00 162 61 27.35 - - - ULK2 0 genome.wustl.edu 37 17 19700727 19700727 + Silent SNP G G A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 17 19700727 19700727 G A SNP ULK2 ENST00000361658 human ensembl 69_37n -1 known silent c.1791 p.I597 1.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 41 0 0.00 33 9 21.43 - - - VIPR1 0 genome.wustl.edu 37 3 42567473 42567473 + Missense_Mutation SNP G G T TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 3 42567473 42567473 G T SNP VIPR1 ENST00000438259 human ensembl 69_37n +1 known missense c.14 p.R5L 0.000 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1 - no_errors VIPR1 HGNC ENSG00000114812 46 0 0.00 28 10 26.32 - - - ZNF526 0 genome.wustl.edu 37 19 42728940 42728940 + Missense_Mutation SNP G G A TCGA-BH-A0AZ-01A-21D-A12Q-09 TCGA-BH-A0AZ-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6d90bb8-ad96-4cb8-a96f-a8202fcbc58f 4124d527-3ea7-43d5-81b7-0fc9172be9b0 19 42728940 42728940 G A SNP ZNF526 ENST00000301215 human ensembl 69_37n +1 known missense c.385 p.A129T 0.057 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 30 0 0.00 25 7 21.88 - - -