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 ABL2 0 genome.wustl.edu 37 1 179086512 179086512 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 179086512 179086512 C G SNP ABL2 ENST00000502732 human ensembl 69_37n -1 known missense c.1363 p.E455Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 130 0 0.00 156 29 15.68 - - - ABRA 0 genome.wustl.edu 37 8 107773358 107773358 + Silent SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 8 107773358 107773358 G C SNP ABRA ENST00000311955 human ensembl 69_37n -1 known silent c.1053 p.L351 0.596 NULL NULL - no_errors ABRA HGNC ENSG00000174429 155 1 0.64 79 32 28.83 - - - ACAN 0 genome.wustl.edu 37 15 89401865 89401865 + Missense_Mutation SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 15 89401865 89401865 G A SNP ACAN ENST00000439576 human ensembl 69_37n +1 known missense c.6049 p.E2017K 0.708 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ENSG00000157766 22 0 0.00 27 15 35.71 - - - ADAMTSL1 0 genome.wustl.edu 37 9 18639298 18639298 + Silent SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 9 18639298 18639298 C G SNP ADAMTSL1 ENST00000327883 human ensembl 69_37n +1 known silent c.723 p.L241 1.000 pfam_ADAM_spacer1 pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 102 0 0.00 61 10 14.08 - - - AKNA 0 genome.wustl.edu 37 9 117108251 117108251 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 9 117108251 117108251 C G SNP AKNA ENST00000307564 human ensembl 69_37n -1 known missense c.3553 p.E1185Q 0.535 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 131 0 0.00 64 15 18.99 - - - ANXA1 0 genome.wustl.edu 37 9 75773624 75773624 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 9 75773624 75773624 C T SNP ANXA1 ENST00000257497 human ensembl 69_37n +1 known missense c.80 p.S27L 0.017 prints_AnnexinI pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinI - no_errors ANXA1 HGNC ENSG00000135046 52 0 0.00 53 8 13.11 - - - ARPC1B 0 genome.wustl.edu 37 7 98991734 98991734 + Missense_Mutation SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 7 98991734 98991734 G A SNP ARPC1B ENST00000252725 human ensembl 69_37n +1 known missense c.1072 p.D358N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1B HGNC ENSG00000130429 121 0 0.00 83 22 20.95 - - - B4GALT4 0 genome.wustl.edu 37 3 118945872 118945872 + Silent SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 3 118945872 118945872 G C SNP B4GALT4 ENST00000359213 human ensembl 69_37n -1 known silent c.270 p.L90 0.038 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT4 HGNC ENSG00000121578 110 0 0.00 86 32 27.12 - - - BACH2 0 genome.wustl.edu 37 6 90661581 90661581 + Missense_Mutation SNP C C A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 6 90661581 90661581 C A SNP BACH2 ENST00000257749 human ensembl 69_37n -1 known missense c.244 p.V82F 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 28 0 0.00 8 7 46.67 - - - BLOC1S1 0 genome.wustl.edu 37 12 56112976 56112976 + Missense_Mutation SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 12 56112976 56112976 G A SNP BLOC1S1 ENST00000548925 human ensembl 69_37n +1 known missense c.320 p.G107E 0.984 pfam_GCN5L1 pfam_GCN5L1 - no_errors BLOC1S1 HGNC ENSG00000135441 59 0 0.00 46 13 22.03 - - - BMP2K 0 genome.wustl.edu 37 4 79792136 79792137 + In_Frame_Ins INS - - CAG TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 4 79792136 79792137 - CAG INS BMP2K ENST00000335016 human ensembl 69_37n +1 known in_frame_ins c.1431_1432 p.481in_frame_insQ 0.956:0.960 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMP2K HGNC ENSG00000138756 30 0 0.00 40 6 13.04 - - - C17orf53 0 genome.wustl.edu 37 17 42232258 42232258 + Silent SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 17 42232258 42232258 G A SNP C17orf53 ENST00000319977 human ensembl 69_37n +1 known silent c.1599 p.E533 0.996 NULL NULL - no_errors C17orf53 HGNC ENSG00000125319 133 0 0.00 75 17 18.48 - - - CBL 0 genome.wustl.edu 37 11 119148506 119148506 + Silent SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 11 119148506 119148506 G A SNP CBL ENST00000264033 human ensembl 69_37n +1 known silent c.1047 p.L349 1.000 pfam_Adaptor_Cbl_SH2-like pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 114 0 0.00 97 15 13.39 - - - CBL 0 genome.wustl.edu 37 11 119155748 119155748 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 11 119155748 119155748 G C SNP CBL ENST00000264033 human ensembl 69_37n +1 known missense c.1501 p.D501H 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 84 0 0.00 59 19 24.36 - - - CCDC150 0 genome.wustl.edu 37 2 197521749 197521749 + Silent SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 2 197521749 197521749 C T SNP CCDC150 ENST00000389175 human ensembl 69_37n +1 known silent c.465 p.L155 0.562 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 115 1 0.85 67 15 18.29 - - - CCDC67 0 genome.wustl.edu 37 11 93148236 93148236 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 11 93148236 93148236 G C SNP CCDC67 ENST00000298050 human ensembl 69_37n +1 known missense c.1594 p.E532Q 0.997 NULL superfamily_MHC_II-assoc_invariant_trimer - no_errors CCDC67 HGNC ENSG00000165325 271 0 0.00 235 68 22.44 - - - CD200R1L 0 genome.wustl.edu 37 3 112538665 112538665 + Silent SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 3 112538665 112538665 G A SNP CD200R1L ENST00000398214 human ensembl 69_37n -1 known silent c.757 p.L253 0.511 NULL pfam_CD80_C2-set,pfscan_Ig-like - no_errors CD200R1L HGNC ENSG00000206531 85 0 0.00 98 21 17.65 - - - CDHR2 0 genome.wustl.edu 37 5 176002162 176002162 + Silent SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 5 176002162 176002162 C G SNP CDHR2 ENST00000261944 human ensembl 69_37n +1 known silent c.573 p.L191 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 65 0 0.00 58 13 18.31 - - - CDK12 0 genome.wustl.edu 37 17 37667820 37667820 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 17 37667820 37667820 G C SNP CDK12 ENST00000447079 human ensembl 69_37n +1 known missense c.2705 p.R902P 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK12 HGNC ENSG00000167258 88 0 0.00 73 27 27.00 - - - CEP164 0 genome.wustl.edu 37 11 117267896 117267896 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 11 117267896 117267896 C G SNP CEP164 ENST00000278935 human ensembl 69_37n +1 known missense c.3368 p.S1123C 1.000 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC ENSG00000110274 68 0 0.00 42 5 10.64 - - - CHPT1 0 genome.wustl.edu 37 12 102117560 102117560 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 12 102117560 102117560 C G SNP CHPT1 ENST00000229266 human ensembl 69_37n +1 known missense c.1000 p.L334V 1.000 pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CHPT1 HGNC ENSG00000111666 152 0 0.00 154 68 30.63 - - - CHRDL1 0 genome.wustl.edu 37 X 110035316 110035316 + Missense_Mutation SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 X 110035316 110035316 G A SNP CHRDL1 ENST00000372042 human ensembl 69_37n -1 known missense c.94 p.H32Y 1.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC ENSG00000101938 134 0 0.00 55 35 38.89 - - - CHURC1-FNTB 0 genome.wustl.edu 37 14 65482433 65482433 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 14 65482433 65482433 G C SNP CHURC1-FNTB ENST00000447296 human ensembl 69_37n +1 known missense c.475 p.D159H 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors CHURC1-FNTB HGNC ENSG00000125954 93 0 0.00 101 38 27.34 - - - CILP2 0 genome.wustl.edu 37 19 19654870 19654870 + Nonsense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 19 19654870 19654870 C T SNP CILP2 ENST00000291495 human ensembl 69_37n +1 known nonsense c.1516 p.Q506* 1.000 superfamily_Carb-bd-like_fold pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP2 HGNC ENSG00000160161 29 0 0.00 28 9 24.32 - - - CNGB1 0 genome.wustl.edu 37 16 57921825 57921825 + Silent SNP G G T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 16 57921825 57921825 G T SNP CNGB1 ENST00000251102 human ensembl 69_37n -1 known silent c.3396 p.L1132 0.006 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 59 0 0.00 26 10 27.78 - - - COL4A2 0 genome.wustl.edu 37 13 111117840 111117840 + Missense_Mutation SNP G G T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 13 111117840 111117840 G T SNP COL4A2 ENST00000360467 human ensembl 69_37n +1 known missense c.1865 p.G622V 0.981 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 30 0 0.00 46 11 19.30 - - - COLEC12 0 genome.wustl.edu 37 18 331727 331727 + Silent SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 18 331727 331727 G A SNP COLEC12 ENST00000400256 human ensembl 69_37n -1 known silent c.2004 p.L668 0.983 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 192 1 0.52 117 55 31.98 - - - CRYGA 0 genome.wustl.edu 37 2 209025769 209025769 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 2 209025769 209025769 C T SNP CRYGA ENST00000304502 human ensembl 69_37n -1 known missense c.284 p.R95K 0.963 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 55 0 0.00 42 13 23.64 - - - CTAGE5 0 genome.wustl.edu 37 14 39796100 39796100 + Nonsense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 14 39796100 39796100 C T SNP CTAGE5 ENST00000396158 human ensembl 69_37n +1 known nonsense c.1720 p.Q574* 0.906 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 279 0 0.00 294 59 16.71 - - - CYLC2 0 genome.wustl.edu 37 9 105767684 105767684 + Silent SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 9 105767684 105767684 G C SNP CYLC2 ENST00000374798 human ensembl 69_37n +1 putative silent c.771 p.S257 0.000 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 101 0 0.00 117 18 13.33 - - - DEFB132 0 genome.wustl.edu 37 20 239786 239786 + Nonsense_Mutation SNP G G T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 20 239786 239786 G T SNP DEFB132 ENST00000382376 human ensembl 69_37n +1 known nonsense c.127 p.E43* 0.017 NULL NULL - no_errors DEFB132 HGNC ENSG00000186458 116 0 0.00 57 28 32.94 - - - DENND5B 0 genome.wustl.edu 37 12 31632879 31632879 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 12 31632879 31632879 C T SNP DENND5B ENST00000306833 human ensembl 69_37n -1 known missense c.653 p.R218K 1.000 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 160 0 0.00 104 29 21.80 - - - DGCR6 0 genome.wustl.edu 37 22 18893927 18893927 + Missense_Mutation SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 22 18893927 18893927 G A SNP DGCR6 ENST00000331444 human ensembl 69_37n +1 known missense c.40 p.G14S 0.592 pfam_DGCR6 pfam_DGCR6 - no_errors DGCR6 HGNC ENSG00000183628 12 0 0.00 24 9 27.27 - - - DNAH14 0 genome.wustl.edu 37 1 225334860 225334860 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 225334860 225334860 G C SNP DNAH14 ENST00000430092 human ensembl 69_37n +1 known missense c.4798 p.D1600H 0.677 smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 164 0 0.00 187 46 19.74 - - - DNAH5 0 genome.wustl.edu 37 5 13762836 13762836 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 5 13762836 13762836 G C SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known missense c.10276 p.L3426V 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 40 0 0.00 57 12 17.39 - - - DSCAML1 0 genome.wustl.edu 37 11 117651335 117651335 + Silent SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 11 117651335 117651335 G A SNP DSCAML1 ENST00000321322 human ensembl 69_37n -1 known silent c.417 p.N139 0.999 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 152 0 0.00 48 68 58.62 - - - EDAR 0 genome.wustl.edu 37 2 109546677 109546677 + Nonsense_Mutation SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 2 109546677 109546677 G A SNP EDAR ENST00000376651 human ensembl 69_37n -1 known nonsense c.73 p.R25* 0.008 NULL pfam_Death,superfamily_DEATH-like - no_errors EDAR HGNC ENSG00000135960 52 0 0.00 27 34 55.74 - - - EFHA1 0 genome.wustl.edu 37 13 22070300 22070300 + Splice_Site SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 13 22070300 22070300 C G SNP EFHA1 ENST00000382374 human ensembl 69_37n -1 known splice_site c.934-1 e10-1 1.000 - - - no_errors EFHA1 HGNC ENSG00000165487 68 0 0.00 160 22 12.02 - - - ENPP6 0 genome.wustl.edu 37 4 185038159 185038159 + Silent SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 4 185038159 185038159 G A SNP ENPP6 ENST00000296741 human ensembl 69_37n -1 known silent c.705 p.V235 0.955 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 104 1 0.95 49 17 25.76 - - - ERAP2 0 genome.wustl.edu 37 5 96215756 96215756 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 5 96215756 96215756 C G SNP ERAP2 ENST00000437043 human ensembl 69_37n +1 known missense c.367 p.Q123E 0.004 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP2 HGNC ENSG00000164308 68 0 0.00 78 11 12.36 - - - ERGIC3 0 genome.wustl.edu 37 20 34130641 34130641 + Missense_Mutation SNP A A G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 20 34130641 34130641 A G SNP ERGIC3 ENST00000416206 human ensembl 69_37n +1 novel missense c.314 p.N105S 0.996 NULL pfam_DUF1692 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ERGIC3 HGNC ENSG00000125991 164 0 0.00 67 22 24.72 - - - FAM129B 0 genome.wustl.edu 37 9 130286102 130286102 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 9 130286102 130286102 C T SNP FAM129B ENST00000373312 human ensembl 69_37n -1 known missense c.445 p.A149T 0.004 pfscan_Pleckstrin_homology pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 93 0 0.00 67 19 22.09 - - - FAM178A 0 genome.wustl.edu 37 10 102676827 102676827 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 10 102676827 102676827 G C SNP FAM178A ENST00000370269 human ensembl 69_37n +1 known missense c.685 p.E229Q 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 71 0 0.00 22 10 31.25 - - - FBXO18 0 genome.wustl.edu 37 10 5948419 5948419 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 10 5948419 5948419 C G SNP FBXO18 ENST00000379999 human ensembl 69_37n +1 known missense c.730 p.P244A 0.998 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO18 HGNC ENSG00000134452 39 0 0.00 17 16 48.48 - - - FIZ1 0 genome.wustl.edu 37 19 56109162 56109162 + Missense_Mutation SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 19 56109162 56109162 G A SNP FIZ1 ENST00000221665 human ensembl 69_37n -1 known missense c.70 p.H24Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FIZ1 HGNC ENSG00000179943 32 0 0.00 27 8 22.86 - - - FLG 0 genome.wustl.edu 37 1 152276492 152276492 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 152276492 152276492 C T SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.10870 p.E3624K 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 521 0 0.00 478 81 14.49 - - - GSTK1 0 genome.wustl.edu 37 7 142962324 142962324 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 7 142962324 142962324 C T SNP GSTK1 ENST00000479303 human ensembl 69_37n +1 known missense c.523 p.R175C 0.000 NULL pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold - no_errors GSTK1 HGNC ENSG00000197448 84 0 0.00 50 14 21.88 - - - GTF3A 0 genome.wustl.edu 37 13 28001286 28001286 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 13 28001286 28001286 C G SNP GTF3A ENST00000419181 human ensembl 69_37n +1 known missense c.259 p.L87V 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GTF3A HGNC ENSG00000122034 167 1 0.60 282 37 11.60 - - - HIST1H2AJ 0 genome.wustl.edu 37 6 27782245 27782245 + Nonsense_Mutation SNP C C A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 6 27782245 27782245 C A SNP HIST1H2AJ ENST00000333151 human ensembl 69_37n -1 known nonsense c.274 p.E92* 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AJ HGNC ENSG00000182611 144 0 0.00 134 31 18.79 - - - HM13 0 genome.wustl.edu 37 20 30135465 30135465 + RNA SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 20 30135465 30135465 C T SNP HM13 ENST00000479096 human ensembl 69_37n +1 known rna NULL NULL 0.168 - - - no_errors HM13 HGNC ENSG00000101294 33 0 0.00 20 6 23.08 - - - INPP4A 0 genome.wustl.edu 37 2 99189336 99189336 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 2 99189336 99189336 G C SNP INPP4A ENST00000074304 human ensembl 69_37n +1 known missense c.2592 p.Q864H 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4A HGNC ENSG00000040933 107 0 0.00 60 17 22.08 - - - JMJD4 0 genome.wustl.edu 37 1 227921783 227921783 + RNA SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 227921783 227921783 G C SNP JMJD4 ENST00000465251 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors JMJD4 HGNC ENSG00000081692 55 0 0.00 43 11 20.37 - - - KCNN3 0 genome.wustl.edu 37 1 154842199 154842200 + In_Frame_Ins INS - - GCT TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 154842199 154842200 - GCT INS KCNN3 ENST00000271915 human ensembl 69_37n -1 known in_frame_ins c.242_241 p.81in_frame_insQ 0.748:0.982 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 60 0 0.00 82 24 22.64 - - - KCTD19 0 genome.wustl.edu 37 16 67338408 67338408 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 16 67338408 67338408 C T SNP KCTD19 ENST00000304372 human ensembl 69_37n -1 known missense c.367 p.E123K 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 202 0 0.00 68 34 33.33 - - - KDELC1 0 genome.wustl.edu 37 13 103446142 103446142 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 13 103446142 103446142 C T SNP KDELC1 ENST00000376004 human ensembl 69_37n -1 known missense c.403 p.E135K 1.000 NULL pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 126 0 0.00 151 26 14.69 - - - KIF3A 0 genome.wustl.edu 37 5 132034940 132034940 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 5 132034940 132034940 C G SNP KIF3A ENST00000378735 human ensembl 69_37n -1 known missense c.1983 p.E661D 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3A HGNC ENSG00000131437 133 1 0.75 175 55 23.81 - - - KIF4A 0 genome.wustl.edu 37 X 69606486 69606486 + Nonsense_Mutation SNP G G T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 X 69606486 69606486 G T SNP KIF4A ENST00000374403 human ensembl 69_37n +1 known nonsense c.2053 p.E685* 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 101 0 0.00 51 17 25.00 - - - KRTAP10-8 0 genome.wustl.edu 37 21 46032257 46032257 + Silent SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 21 46032257 46032257 C T SNP KRTAP10-8 ENST00000334662 human ensembl 69_37n +1 known silent c.240 p.S80 0.987 pfam_PMG pfam_PMG - no_errors KRTAP10-8 HGNC ENSG00000187766 99 0 0.00 11 49 81.67 - - - LAMC2 0 genome.wustl.edu 37 1 183187608 183187608 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 183187608 183187608 G C SNP LAMC2 ENST00000264144 human ensembl 69_37n +1 known missense c.488 p.G163A 1.000 pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 39 0 0.00 32 8 20.00 - - - LAMC3 0 genome.wustl.edu 37 9 133924412 133924412 + Missense_Mutation SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 9 133924412 133924412 G A SNP LAMC3 ENST00000361069 human ensembl 69_37n +1 known missense c.1525 p.E509K 0.002 pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 34 0 0.00 28 7 20.00 - - - LCMT2 0 genome.wustl.edu 37 15 43622033 43622033 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 15 43622033 43622033 C T SNP LCMT2 ENST00000305641 human ensembl 69_37n -1 known missense c.655 p.E219K 0.999 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 43 0 0.00 14 9 39.13 - - - LMBR1L 0 genome.wustl.edu 37 12 49500499 49500499 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 12 49500499 49500499 G C SNP LMBR1L ENST00000417750 human ensembl 69_37n -1 known missense c.188 p.S63C 0.002 NULL NULL - no_errors LMBR1L HGNC ENSG00000139636 54 0 0.00 33 11 25.00 - - - LRP4 0 genome.wustl.edu 37 11 46897025 46897025 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 11 46897025 46897025 C G SNP LRP4 ENST00000378623 human ensembl 69_37n -1 known missense c.3907 p.D1303H 1.000 NULL pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP4 HGNC ENSG00000134569 40 0 0.00 22 8 26.67 - - - MAP1B 0 genome.wustl.edu 37 5 71492844 71492844 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 5 71492844 71492844 C G SNP MAP1B ENST00000296755 human ensembl 69_37n +1 known missense c.3662 p.S1221C 0.991 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 81 0 0.00 77 16 17.20 - - - MAP4K4 0 genome.wustl.edu 37 2 102448266 102448266 + Missense_Mutation SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 2 102448266 102448266 G A SNP MAP4K4 ENST00000324219 human ensembl 69_37n +1 known missense c.592 p.E198K 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_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K4 HGNC ENSG00000071054 170 0 0.00 131 43 24.71 - - - MCM3 0 genome.wustl.edu 37 6 52146918 52146918 + Silent SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 6 52146918 52146918 C T SNP MCM3 ENST00000229854 human ensembl 69_37n -1 known silent c.456 p.K152 1.000 superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_3 - no_errors MCM3 HGNC ENSG00000112118 103 1 0.96 92 22 19.30 - - - MIB2 0 genome.wustl.edu 37 1 1565047 1565047 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 1565047 1565047 C G SNP MIB2 ENST00000505820 human ensembl 69_37n +1 known missense c.2937 p.I979M 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB2 HGNC ENSG00000197530 44 0 0.00 8 16 66.67 - - - MLL3 0 genome.wustl.edu 37 7 151917645 151917646 + Frame_Shift_Del DEL TG TG - TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 7 151917645 151917646 TG - DEL MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_del c.3675_3674 p.S1225fs 1.000:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 209 0 0.00 140 19 10.80 - - - MLL3 0 genome.wustl.edu 37 7 151921673 151921673 + Nonsense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 7 151921673 151921673 C T SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known nonsense c.3005 p.W1002* 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 72 0 0.00 47 10 17.54 - - - MOBP 0 genome.wustl.edu 37 3 39555004 39555004 + RNA SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 3 39555004 39555004 C T SNP MOBP ENST00000479860 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MOBP HGNC ENSG00000168314 49 0 0.00 53 9 14.52 - - - MYH9 0 genome.wustl.edu 37 22 36690231 36690231 + Silent SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 22 36690231 36690231 C T SNP MYH9 ENST00000216181 human ensembl 69_37n -1 known silent c.3744 p.K1248 1.000 pfam_Myosin_tail,superfamily_STAT_TF_coiled-coil pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 122 0 0.00 63 23 26.74 - - - MYOM2 0 genome.wustl.edu 37 8 2088660 2088660 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 8 2088660 2088660 C T SNP MYOM2 ENST00000262113 human ensembl 69_37n +1 known missense c.3815 p.S1272L 0.957 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM2 HGNC ENSG00000036448 100 1 0.98 35 5 12.50 - - - NDUFS5 0 genome.wustl.edu 37 1 39494490 39494490 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 39494490 39494490 C G SNP NDUFS5 ENST00000372967 human ensembl 69_37n +1 known missense c.94 p.R32G 0.948 pfam_NADH_UbQ_OxRdtase_FeS-su5,pfam_Cyt_c_biogenesis_Cmc1-like pfam_NADH_UbQ_OxRdtase_FeS-su5,pfam_Cyt_c_biogenesis_Cmc1-like - no_errors NDUFS5 HGNC ENSG00000168653 84 0 0.00 45 5 10.00 - - - NIN 0 genome.wustl.edu 37 14 51239789 51239789 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 14 51239789 51239789 G C SNP NIN ENST00000245441 human ensembl 69_37n -1 known missense c.691 p.L231V 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC ENSG00000100503 123 0 0.00 136 24 15.00 - - - NPR1 0 genome.wustl.edu 37 1 153661754 153661754 + Silent SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 153661754 153661754 C T SNP NPR1 ENST00000368680 human ensembl 69_37n +1 known silent c.2655 p.F885 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 111 0 0.00 71 17 19.10 - - - NUGGC 0 genome.wustl.edu 37 8 27887897 27887897 + Silent SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 8 27887897 27887897 G A SNP NUGGC ENST00000341513 human ensembl 69_37n -1 known silent c.1947 p.L649 0.643 NULL pfam_Dynamin_GTPase - no_errors NUGGC HGNC ENSG00000189233 88 0 0.00 7 13 65.00 - - - OPHN1 0 genome.wustl.edu 37 X 67431962 67431962 + Silent SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 X 67431962 67431962 G C SNP OPHN1 ENST00000355520 human ensembl 69_37n -1 known silent c.690 p.L230 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 132 0 0.00 78 27 25.47 - - - OR2T27 0 genome.wustl.edu 37 1 248813827 248813827 + Missense_Mutation SNP T T C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 248813827 248813827 T C SNP OR2T27 ENST00000344889 human ensembl 69_37n -1 known missense c.359 p.Y120C 0.954 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 OR2T27 HGNC ENSG00000187701 105 0 0.00 47 12 20.00 - - - OR5H6 0 genome.wustl.edu 37 3 97983636 97983636 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 3 97983636 97983636 C T SNP OR5H6 ENST00000383696 human ensembl 69_37n +1 known missense c.508 p.L170F 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5H6 HGNC ENSG00000230301 72 0 0.00 112 33 22.76 - - - PAMR1 0 genome.wustl.edu 37 11 35463039 35463039 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 11 35463039 35463039 G C SNP PAMR1 ENST00000278360 human ensembl 69_37n -1 known missense c.1074 p.I358M 0.962 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EGF-like,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PAMR1 HGNC ENSG00000149090 164 1 0.61 101 42 29.37 - - - PBRM1 0 genome.wustl.edu 37 3 52584826 52584826 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 3 52584826 52584826 C T SNP PBRM1 ENST00000296302 human ensembl 69_37n -1 known missense c.4617 p.M1539I 1.000 NULL pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 73 0 0.00 59 15 20.27 - - - PCDH10 0 genome.wustl.edu 37 4 134072178 134072178 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 4 134072178 134072178 C T SNP PCDH10 ENST00000264360 human ensembl 69_37n +1 known missense c.883 p.P295S 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 39 0 0.00 16 11 40.74 - - - PCNXL3 0 genome.wustl.edu 37 11 65389721 65389721 + Missense_Mutation SNP G G T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 11 65389721 65389721 G T SNP PCNXL3 ENST00000355703 human ensembl 69_37n +1 known missense c.2241 p.Q747H 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 37 0 0.00 19 8 29.63 - - - PLD6 0 genome.wustl.edu 37 17 17106133 17106133 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 17 17106133 17106133 C T SNP PLD6 ENST00000321560 human ensembl 69_37n -1 known missense c.707 p.R236K 0.000 NULL smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD6 HGNC ENSG00000179598 94 0 0.00 41 12 22.64 - - - PLIN2 0 genome.wustl.edu 37 9 19116288 19116288 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 9 19116288 19116288 C G SNP PLIN2 ENST00000276914 human ensembl 69_37n -1 known missense c.1272 p.K424N 0.000 pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN2 HGNC ENSG00000147872 88 0 0.00 69 11 13.75 - - - PMS1 0 genome.wustl.edu 37 2 190728571 190728571 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 2 190728571 190728571 G C SNP PMS1 ENST00000441310 human ensembl 69_37n +1 known missense c.1959 p.K653N 0.877 NULL pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 86 0 0.00 75 31 29.25 - - - PTH2 0 genome.wustl.edu 37 19 49926531 49926533 + In_Frame_Del DEL CAG CAG - TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 19 49926531 49926533 CAG - DEL PTH2 ENST00000270631 human ensembl 69_37n -1 known in_frame_del c.66_64 p.L22in_frame_del 0.016:0.132:0.132 NULL NULL - no_errors PTH2 HGNC ENSG00000142538 18 0 0.00 18 4 18.18 - - - PTPRD 0 genome.wustl.edu 37 9 8518119 8518119 + Silent SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 9 8518119 8518119 G A SNP PTPRD ENST00000356435 human ensembl 69_37n -1 known silent c.1272 p.V424 0.989 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 256 1 0.39 139 51 26.84 - - - PUM1 0 genome.wustl.edu 37 1 31478856 31478856 + Missense_Mutation SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 31478856 31478856 G A SNP PUM1 ENST00000525843 human ensembl 69_37n -1 putative missense c.613 p.H205Y 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PUM1 HGNC ENSG00000134644 54 0 0.00 24 13 34.21 - - - RGP1 0 genome.wustl.edu 37 9 35749738 35749738 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 9 35749738 35749738 G C SNP RGP1 ENST00000456972 human ensembl 69_37n +1 known missense c.106 p.D36H 0.002 NULL pfam_Rgp1 - no_errors RGP1 HGNC ENSG00000107185 129 0 0.00 82 23 21.90 - - - RGP1 0 genome.wustl.edu 37 9 35751661 35751661 + Silent SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 9 35751661 35751661 G A SNP RGP1 ENST00000456972 human ensembl 69_37n +1 known silent c.792 p.G264 0.994 pfam_Rgp1 pfam_Rgp1 - no_errors RGP1 HGNC ENSG00000107185 160 1 0.62 91 28 23.53 - - - RGS22 0 genome.wustl.edu 37 8 101083735 101083735 + Missense_Mutation SNP C C A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 8 101083735 101083735 C A SNP RGS22 ENST00000360863 human ensembl 69_37n -1 known missense c.456 p.W152C 1.000 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS22 HGNC ENSG00000132554 140 0 0.00 120 39 24.53 - - - RHBDF2 0 genome.wustl.edu 37 17 74473024 74473024 + Missense_Mutation SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 17 74473024 74473024 G A SNP RHBDF2 ENST00000313080 human ensembl 69_37n -1 known missense c.1090 p.R364W 1.000 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 37 0 0.00 33 4 10.81 - - - RPS14 0 genome.wustl.edu 37 5 149825182 149825182 + Missense_Mutation SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 5 149825182 149825182 G A SNP RPS14 ENST00000519855 human ensembl 69_37n -1 putative missense c.203 p.S68L 0.937 pfam_Ribosomal_S11 pfam_Ribosomal_S11 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RPS14 HGNC ENSG00000164587 37 0 0.00 26 6 18.75 - - - RYR1 0 genome.wustl.edu 37 19 38948694 38948694 + Silent SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 19 38948694 38948694 C T SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known silent c.1929 p.I643 1.000 pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 45 0 0.00 32 12 27.27 - - - SCN10A 0 genome.wustl.edu 37 3 38805068 38805068 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 3 38805068 38805068 C G SNP SCN10A ENST00000449082 human ensembl 69_37n -1 known missense c.619 p.D207H 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 138 0 0.00 129 37 22.29 - - - SEC16B 0 genome.wustl.edu 37 1 177899016 177899016 + Missense_Mutation SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 177899016 177899016 G A SNP SEC16B ENST00000308284 human ensembl 69_37n -1 known missense c.3160 p.R1054C 1.000 NULL NULL - no_errors SEC16B Clone_based_vega_gene ENSG00000120341 134 0 0.00 130 41 23.98 - - - SH3BP5L 0 genome.wustl.edu 37 1 249106488 249106488 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 249106488 249106488 C T SNP SH3BP5L ENST00000366472 human ensembl 69_37n -1 known missense c.793 p.E265K 1.000 pfam_SH3-bd_5 pfam_SH3-bd_5 - no_errors SH3BP5L HGNC ENSG00000175137 58 0 0.00 40 6 13.04 - - - SLC36A2 0 genome.wustl.edu 37 5 150696504 150696504 + Silent SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 5 150696504 150696504 G A SNP SLC36A2 ENST00000335244 human ensembl 69_37n -1 known silent c.1326 p.F442 0.965 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 118 1 0.84 107 30 21.90 - - - SORD 0 genome.wustl.edu 37 15 45353269 45353269 + Missense_Mutation SNP T T A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 15 45353269 45353269 T A SNP SORD ENST00000267814 human ensembl 69_37n +1 known missense c.270 p.D90E 1.000 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors SORD HGNC ENSG00000140263 109 0 0.00 89 16 15.24 - - - SOX14 0 genome.wustl.edu 37 3 137484310 137484310 + Silent SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 3 137484310 137484310 C T SNP SOX14 ENST00000306087 human ensembl 69_37n +1 known silent c.684 p.G228 1.000 NULL pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX14 HGNC ENSG00000168875 20 0 0.00 18 13 41.94 - - - SPATC1 0 genome.wustl.edu 37 8 145101812 145101812 + Silent SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 8 145101812 145101812 C T SNP SPATC1 ENST00000377470 human ensembl 69_37n +1 known silent c.1731 p.L577 1.000 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 26 0 0.00 5 4 44.44 - - - SRGAP2 0 genome.wustl.edu 37 1 206579816 206579816 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 206579816 206579816 C G SNP SRGAP2 ENST00000295713 human ensembl 69_37n +1 known missense c.979 p.P327A 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SRGAP2 HGNC ENSG00000163486 32 0 0.00 30 7 18.92 - - - STAT5B 0 genome.wustl.edu 37 17 40370196 40370196 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 17 40370196 40370196 G C SNP STAT5B ENST00000293328 human ensembl 69_37n -1 known missense c.1142 p.S381C 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd 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,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 117 1 0.85 91 20 18.02 - - - TBC1D3P2 0 genome.wustl.edu 37 17 60345093 60345093 + RNA SNP G G T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 17 60345093 60345093 G T SNP TBC1D3P2 ENST00000339120 human ensembl 69_37n -1 known rna NULL NULL 0.004 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 172 0 0.00 117 32 21.48 - - - TBP 0 genome.wustl.edu 37 6 170871091 170871091 + Silent SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 6 170871091 170871091 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.267 p.Q89 0.078 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 48 0 0.00 60 9 13.04 - - - TBX20 0 genome.wustl.edu 37 7 35284610 35284610 + Missense_Mutation SNP G G T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 7 35284610 35284610 G T SNP TBX20 ENST00000408931 human ensembl 69_37n -1 known missense c.605 p.S202Y 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 253 1 0.39 133 45 25.28 - - - TCOF1 0 genome.wustl.edu 37 5 149775971 149775971 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 5 149775971 149775971 C T SNP TCOF1 ENST00000451292 human ensembl 69_37n +1 known missense c.4019 p.P1340L 0.784 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 19 0 0.00 21 11 34.38 - - - THEMIS 0 genome.wustl.edu 37 6 128221997 128221997 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 6 128221997 128221997 G C SNP THEMIS ENST00000543064 human ensembl 69_37n -1 known missense c.81 p.I27M 1.000 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 162 1 0.61 102 53 33.97 - - - TMEM247 0 genome.wustl.edu 37 2 46707888 46707888 + Frame_Shift_Del DEL G G - TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 2 46707888 46707888 G - DEL TMEM247 ENST00000434431 human ensembl 69_37n +1 known frame_shift_del c.462 p.A155fs 0.083 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region TMEM247 HGNC ENSG00000187600 25 0 0.00 27 5 15.62 - - - TNNI2 0 genome.wustl.edu 37 11 1862416 1862416 + Silent SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 11 1862416 1862416 C T SNP TNNI2 ENST00000252898 human ensembl 69_37n +1 known silent c.432 p.V144 1.000 pfam_Troponin pfam_Troponin - no_errors TNNI2 HGNC ENSG00000130598 35 0 0.00 24 5 17.24 - - - TP53 0 genome.wustl.edu 37 17 7577515 7577517 + In_Frame_Del DEL TGA TGA - TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 TGA TGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 17 7577515 7577517 TGA - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known in_frame_del c.766_764 p.I255in_frame_del 1.000:1.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 102 1 0.95 26 42 60.87 - - - TRPM5 0 genome.wustl.edu 37 11 2432657 2432657 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 11 2432657 2432657 C T SNP TRPM5 ENST00000452833 human ensembl 69_37n -1 known missense c.2713 p.E905K 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 20 0 0.00 9 4 30.77 - - - TUBA3FP 0 genome.wustl.edu 37 22 21363462 21363462 + RNA SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 22 21363462 21363462 C T SNP TUBA3FP ENST00000292748 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors TUBA3FP HGNC ENSG00000161149 198 1 0.50 145 46 24.08 - - - TUT1 0 genome.wustl.edu 37 11 62343377 62343377 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 11 62343377 62343377 G C SNP TUT1 ENST00000308436 human ensembl 69_37n -1 known missense c.1928 p.S643C 0.996 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 61 0 0.00 38 13 25.49 - - - U2AF2 0 genome.wustl.edu 37 19 56171941 56171941 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 19 56171941 56171941 C T SNP U2AF2 ENST00000308924 human ensembl 69_37n +1 known missense c.290 p.P97L 0.994 tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 65 0 0.00 29 12 29.27 - - - UGGT2 0 genome.wustl.edu 37 13 96529964 96529964 + Silent SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 13 96529964 96529964 C T SNP UGGT2 ENST00000376747 human ensembl 69_37n -1 known silent c.3375 p.V1125 1.000 pfam_UDP-g_GGtrans pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 101 0 0.00 248 34 12.06 - - - UNC79 0 genome.wustl.edu 37 14 94088627 94088627 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 14 94088627 94088627 C T SNP UNC79 ENST00000553484 human ensembl 69_37n +1 known missense c.5114 p.P1705L 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 61 0 0.00 35 25 41.67 - - - USP13 0 genome.wustl.edu 37 3 179472637 179472637 + Nonsense_Mutation SNP C C A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 3 179472637 179472637 C A SNP USP13 ENST00000263966 human ensembl 69_37n +1 known nonsense c.1916 p.S639* 1.000 pfam_Peptidase_C19,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP13 HGNC ENSG00000058056 99 0 0.00 88 13 12.75 - - - VAV3 0 genome.wustl.edu 37 1 108299921 108299921 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 108299921 108299921 C G SNP VAV3 ENST00000370056 human ensembl 69_37n -1 known missense c.1048 p.E350Q 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 225 1 0.44 117 35 23.03 - - - WTIP 0 genome.wustl.edu 37 19 34984225 34984225 + Nonsense_Mutation SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 19 34984225 34984225 G A SNP WTIP ENST00000585928 human ensembl 69_37n +1 putative nonsense c.342 p.W114* 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region WTIP HGNC ENSG00000142279 33 0 0.00 17 5 22.73 - - - XCR1 0 genome.wustl.edu 37 3 46063195 46063195 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 3 46063195 46063195 C T SNP XCR1 ENST00000309285 human ensembl 69_37n -1 known missense c.245 p.C82Y 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_lymphotactin_XCR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 253 0 0.00 152 37 19.58 - - - XPO4 0 genome.wustl.edu 37 13 21436902 21436902 + Missense_Mutation SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 13 21436902 21436902 C T SNP XPO4 ENST00000255305 human ensembl 69_37n -1 known missense c.271 p.E91K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 116 0 0.00 221 32 12.65 - - - ZDBF2 0 genome.wustl.edu 37 2 207169562 207169562 + Nonsense_Mutation SNP G G T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 2 207169562 207169562 G T SNP ZDBF2 ENST00000374423 human ensembl 69_37n +1 known nonsense c.310 p.E104* 0.001 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 92 0 0.00 53 24 31.17 - - - ZMYM2 0 genome.wustl.edu 37 13 20579263 20579263 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 13 20579263 20579263 G C SNP ZMYM2 ENST00000382869 human ensembl 69_37n +1 known missense c.1183 p.E395Q 1.000 pfam_Znf_MYM,smart_TRASH pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ENSG00000121741 89 0 0.00 176 23 11.50 - - - ZMYND12 0 genome.wustl.edu 37 1 42914274 42914274 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 1 42914274 42914274 C G SNP ZMYND12 ENST00000372565 human ensembl 69_37n -1 known missense c.288 p.Q96H 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND12 HGNC ENSG00000066185 81 0 0.00 42 20 31.75 - - - ZNF167 0 genome.wustl.edu 37 3 44611611 44611611 + Missense_Mutation SNP G G C TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 3 44611611 44611611 G C SNP ZNF167 ENST00000273320 human ensembl 69_37n +1 known missense c.1009 p.D337H 0.001 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF167 HGNC ENSG00000196345 81 0 0.00 88 11 11.11 - - - ZNF202 0 genome.wustl.edu 37 11 123601456 123601456 + Silent SNP C C T TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 11 123601456 123601456 C T SNP ZNF202 ENST00000336139 human ensembl 69_37n -1 known silent c.141 p.Q47 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF202 HGNC ENSG00000166261 87 0 0.00 70 16 18.60 - - - ZNF425 0 genome.wustl.edu 37 7 148802280 148802280 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 7 148802280 148802280 C G SNP ZNF425 ENST00000378061 human ensembl 69_37n -1 known missense c.683 p.R228T 0.110 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 82 0 0.00 65 22 25.29 - - - ZNF860 0 genome.wustl.edu 37 3 32032288 32032288 + Missense_Mutation SNP G G A TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cdbe0e8-f614-4f54-b864-fd6b39e8ef1c 583d989c-fa07-46f5-b463-6ce5a2744927 3 32032288 32032288 G A SNP ZNF860 ENST00000360311 human ensembl 69_37n +1 known missense c.1717 p.E573K 0.988 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF860 HGNC ENSG00000197385 92 0 0.00 96 24 20.00 - - -