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 ATE1 0 genome.wustl.edu 37 10 123549742 123549742 + Missense_Mutation SNP T T C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 10 123549742 123549742 T C SNP ATE1 ENST00000423243 human ensembl 69_37n -1 known missense c.1309 p.M437V 1.000 pirsf_Arg-tRNA-P_Trfase_1_euk pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATE1 HGNC ENSG00000107669 168 0 0.00 136 23 14.47 - - - ATE1 0 genome.wustl.edu 37 10 123549742 123549742 + Missense_Mutation SNP T T C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 10 123549742 123549742 T C SNP ATE1 ENST00000423243 human ensembl 69_37n -1 known missense c.1309 p.M437V 1.000 pirsf_Arg-tRNA-P_Trfase_1_euk pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATE1 HGNC ENSG00000107669 198 0 0.00 136 23 14.47 - - - ATP2C2 0 genome.wustl.edu 37 16 84497267 84497267 + Missense_Mutation SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 16 84497267 84497267 G A SNP ATP2C2 ENST00000262429 human ensembl 69_37n +1 known missense c.2770 p.E924K 0.999 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMR1 pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2C2 HGNC ENSG00000064270 86 0 0.00 72 64 46.72 - - - CCDC11 0 genome.wustl.edu 37 18 47777321 47777321 + Missense_Mutation SNP T T C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 18 47777321 47777321 T C SNP CCDC11 ENST00000398545 human ensembl 69_37n -1 known missense c.803 p.H268R 0.896 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 623 0 0.00 417 140 25.00 - - - CCDC11 0 genome.wustl.edu 37 18 47777321 47777321 + Missense_Mutation SNP T T C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 18 47777321 47777321 T C SNP CCDC11 ENST00000398545 human ensembl 69_37n -1 known missense c.803 p.H268R 0.896 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 489 0 0.00 417 140 25.00 - - - CEL 0 genome.wustl.edu 37 9 135941981 135941982 + Frame_Shift_Ins INS - - G TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 9 135941981 135941982 - G INS CEL ENST00000372080 human ensembl 69_37n +1 known frame_shift_ins c.612_613 p.D206fs 0.798:1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 18 0 0.00 20 3 13.04 - - - CEL 0 genome.wustl.edu 37 9 135941981 135941982 + Frame_Shift_Ins INS - - G TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 9 135941981 135941982 - G INS CEL ENST00000372080 human ensembl 69_37n +1 known frame_shift_ins c.612_613 p.D206fs 0.798:1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 35 0 0.00 20 3 13.04 - - - CLRN2 0 genome.wustl.edu 37 4 17517100 17517100 + Missense_Mutation SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 4 17517100 17517100 G A SNP CLRN2 ENST00000511148 human ensembl 69_37n +1 known missense c.211 p.V71M 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors CLRN2 HGNC ENSG00000249581 67 0 0.00 26 11 29.73 - - - CLRN2 0 genome.wustl.edu 37 4 17517100 17517100 + Missense_Mutation SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 4 17517100 17517100 G A SNP CLRN2 ENST00000511148 human ensembl 69_37n +1 known missense c.211 p.V71M 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors CLRN2 HGNC ENSG00000249581 12 0 0.00 26 11 29.73 - - - DCLK1 0 genome.wustl.edu 37 13 36700119 36700119 + Silent SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 13 36700119 36700119 G A SNP DCLK1 ENST00000360631 human ensembl 69_37n -1 known silent c.156 p.S52 0.889 superfamily_Doublecortin_dom,smart_Doublecortin_dom pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK1 HGNC ENSG00000133083 86 0 0.00 38 6 13.64 - - - DCLK1 0 genome.wustl.edu 37 13 36700119 36700119 + Silent SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 13 36700119 36700119 G A SNP DCLK1 ENST00000360631 human ensembl 69_37n -1 known silent c.156 p.S52 0.889 superfamily_Doublecortin_dom,smart_Doublecortin_dom pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK1 HGNC ENSG00000133083 72 0 0.00 38 6 13.64 - - - EBF2 0 genome.wustl.edu 37 8 25897605 25897605 + Missense_Mutation SNP C C T TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 8 25897605 25897605 C T SNP EBF2 ENST00000520164 human ensembl 69_37n -1 known missense c.421 p.E141K 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF2 HGNC ENSG00000221818 69 0 0.00 42 11 20.75 - - - EBF2 0 genome.wustl.edu 37 8 25897605 25897605 + Missense_Mutation SNP C C T TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 8 25897605 25897605 C T SNP EBF2 ENST00000520164 human ensembl 69_37n -1 known missense c.421 p.E141K 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF2 HGNC ENSG00000221818 88 0 0.00 42 11 20.75 - - - EIF4G3 0 genome.wustl.edu 37 1 21306904 21306905 + Frame_Shift_Ins INS - - G TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 1 21306904 21306905 - G INS EIF4G3 ENST00000374937 human ensembl 69_37n -1 known frame_shift_ins c.269_268 p.Q90fs 1.000:1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 21 0 0.00 51 7 12.07 - - - ERICH1 0 genome.wustl.edu 37 8 642576 642576 + Frame_Shift_Del DEL T T - TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 8 642576 642576 T - DEL ERICH1 ENST00000262109 human ensembl 69_37n -1 known frame_shift_del c.206 p.Y69fs 0.246 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 58 0 0.00 25 26 50.98 - - - ERICH1 0 genome.wustl.edu 37 8 642576 642576 + Frame_Shift_Del DEL T T - TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 8 642576 642576 T - DEL ERICH1 ENST00000262109 human ensembl 69_37n -1 known frame_shift_del c.206 p.Y69fs 0.246 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 40 0 0.00 25 26 50.98 - - - EXOC3 0 genome.wustl.edu 37 5 453697 453697 + Missense_Mutation SNP A A G TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 5 453697 453697 A G SNP EXOC3 ENST00000315013 human ensembl 69_37n +1 known missense c.577 p.M193V 1.000 pfam_Sec6 pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 41 0 0.00 65 54 45.38 - - - FAN1 0 genome.wustl.edu 37 15 31197787 31197788 + Frame_Shift_Del DEL TG TG - TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 15 31197787 31197788 TG - DEL FAN1 ENST00000362065 human ensembl 69_37n +1 known frame_shift_del c.921_922 p.V308fs 0.000:0.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 84 0 0.00 17 6 26.09 - - - FAN1 0 genome.wustl.edu 37 15 31197787 31197788 + Frame_Shift_Del DEL TG TG - TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 15 31197787 31197788 TG - DEL FAN1 ENST00000362065 human ensembl 69_37n +1 known frame_shift_del c.921_922 p.V308fs 0.000:0.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 46 0 0.00 17 6 26.09 - - - FLG 0 genome.wustl.edu 37 1 152282524 152282524 + Missense_Mutation SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 1 152282524 152282524 G A SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.4838 p.S1613L 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 121 0 0.00 189 24 11.27 - - - FLG 0 genome.wustl.edu 37 1 152282524 152282524 + Missense_Mutation SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 1 152282524 152282524 G A SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.4838 p.S1613L 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 271 0 0.00 189 24 11.27 - - - FLNA 0 genome.wustl.edu 37 X 153578025 153578026 + Frame_Shift_Ins INS - - C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 X 153578025 153578026 - C INS FLNA ENST00000369850 human ensembl 69_37n -1 known frame_shift_ins c.7544_7543 p.K2515fs 0.991:1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 14 0 0.00 6 17 73.91 - - - GAS6 0 genome.wustl.edu 37 13 114542717 114542718 + Frame_Shift_Ins INS - - C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 13 114542717 114542718 - C INS GAS6 ENST00000357389 human ensembl 69_37n -1 known frame_shift_ins c.450_449 p.R151fs 0.842:0.997 smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 29 0 0.00 31 4 11.43 - - - GPR182 0 genome.wustl.edu 37 12 57389644 57389644 + Silent SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 12 57389644 57389644 G A SNP GPR182 ENST00000300098 human ensembl 69_37n +1 known silent c.651 p.A217 0.002 pfam_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_G10D_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR182 HGNC ENSG00000166856 110 0 0.00 87 43 33.08 - - - GPR182 0 genome.wustl.edu 37 12 57389644 57389644 + Silent SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 12 57389644 57389644 G A SNP GPR182 ENST00000300098 human ensembl 69_37n +1 known silent c.651 p.A217 0.002 pfam_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_G10D_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR182 HGNC ENSG00000166856 87 0 0.00 87 43 33.08 - - - GRN 0 genome.wustl.edu 37 17 42427851 42427851 + Missense_Mutation SNP T T G TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 17 42427851 42427851 T G SNP GRN ENST00000586782 human ensembl 69_37n +1 known missense c.484 p.C162G 0.001 smart_Granulin pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 52 0 0.00 28 4 12.50 - - - HPCAL1 0 genome.wustl.edu 37 2 10559956 10559956 + Missense_Mutation SNP C C T TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 2 10559956 10559956 C T SNP HPCAL1 ENST00000307845 human ensembl 69_37n +1 known missense c.73 p.H25Y 1.000 prints_Recoverin pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors HPCAL1 HGNC ENSG00000115756 25 0 0.00 16 9 36.00 - - - HPCAL1 0 genome.wustl.edu 37 2 10559956 10559956 + Missense_Mutation SNP C C T TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 2 10559956 10559956 C T SNP HPCAL1 ENST00000307845 human ensembl 69_37n +1 known missense c.73 p.H25Y 1.000 prints_Recoverin pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors HPCAL1 HGNC ENSG00000115756 10 0 0.00 16 9 36.00 - - - ITGB5 0 genome.wustl.edu 37 3 124540269 124540269 + Missense_Mutation SNP T T C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 3 124540269 124540269 T C SNP ITGB5 ENST00000296181 human ensembl 69_37n -1 known missense c.833 p.D278G 0.986 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 80 0 0.00 95 21 18.10 - - - ITGB5 0 genome.wustl.edu 37 3 124540269 124540269 + Missense_Mutation SNP T T C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 3 124540269 124540269 T C SNP ITGB5 ENST00000296181 human ensembl 69_37n -1 known missense c.833 p.D278G 0.986 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 99 0 0.00 95 21 18.10 - - - KCNH4 0 genome.wustl.edu 37 17 40315703 40315704 + Frame_Shift_Ins INS - - G TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 17 40315703 40315704 - G INS KCNH4 ENST00000264661 human ensembl 69_37n -1 known frame_shift_ins c.2398_2397 p.R799fs 0.996:0.757 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 10 0 0.00 15 2 11.76 - - - KCNH4 0 genome.wustl.edu 37 17 40315703 40315704 + Frame_Shift_Ins INS - - G TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 17 40315703 40315704 - G INS KCNH4 ENST00000264661 human ensembl 69_37n -1 known frame_shift_ins c.2398_2397 p.R799fs 0.996:0.757 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 16 0 0.00 15 2 11.76 - - - MALAT1 0 genome.wustl.edu 37 11 65266821 65266822 + RNA DEL AA AA - TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 11 65266821 65266822 AA - DEL MALAT1 ENST00000534336 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 22 0 0.00 16 8 33.33 - - - MALAT1 0 genome.wustl.edu 37 11 65266821 65266822 + RNA DEL AA AA - TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 11 65266821 65266822 AA - DEL MALAT1 ENST00000534336 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 19 0 0.00 16 8 33.33 - - - MAP2K4 0 genome.wustl.edu 37 17 12011144 12011144 + Missense_Mutation SNP C C T TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 17 12011144 12011144 C T SNP MAP2K4 ENST00000415385 human ensembl 69_37n +1 known missense c.584 p.S195L 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 MAP2K4 HGNC ENSG00000065559 282 0 0.00 101 94 47.96 - - - MYADML 0 genome.wustl.edu 37 2 33952053 33952054 + RNA INS - - G TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 2 33952053 33952054 - G INS MYADML ENST00000474610 human ensembl 69_37n -1 known rna NULL NULL 0.020:0.003 - - - no_errors MYADML HGNC ENSG00000239649 23 0 0.00 13 3 18.75 - - - NBPF10 0 genome.wustl.edu 37 1 145318952 145318952 + Silent SNP A A G TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 1 145318952 145318952 A G SNP NBPF10 ENST00000342960 human ensembl 69_37n +1 known silent c.2775 p.Q925 0.002 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 9 0 0.00 5 2 28.57 - - - NINL 0 genome.wustl.edu 37 20 25459629 25459629 + Missense_Mutation SNP G G C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 20 25459629 25459629 G C SNP NINL ENST00000278886 human ensembl 69_37n -1 known missense c.2131 p.L711V 0.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 30 0 0.00 10 7 41.18 - - - NINL 0 genome.wustl.edu 37 20 25459629 25459629 + Missense_Mutation SNP G G C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 20 25459629 25459629 G C SNP NINL ENST00000278886 human ensembl 69_37n -1 known missense c.2131 p.L711V 0.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 21 0 0.00 10 7 41.18 - - - NPY1R 0 genome.wustl.edu 37 4 164247685 164247685 + Nonsense_Mutation SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 4 164247685 164247685 G A SNP NPY1R ENST00000296533 human ensembl 69_37n -1 known nonsense c.22 p.Q8* 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_supfam,prints_NPY1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY1R HGNC ENSG00000164128 167 1 0.60 165 20 10.75 - - - NPY1R 0 genome.wustl.edu 37 4 164247685 164247685 + Nonsense_Mutation SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 4 164247685 164247685 G A SNP NPY1R ENST00000296533 human ensembl 69_37n -1 known nonsense c.22 p.Q8* 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_supfam,prints_NPY1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY1R HGNC ENSG00000164128 188 0 0.00 165 20 10.75 - - - NUP160 0 genome.wustl.edu 37 11 47814420 47814420 + Missense_Mutation SNP T T C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 11 47814420 47814420 T C SNP NUP160 ENST00000378460 human ensembl 69_37n -1 known missense c.3368 p.N1123S 1.000 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 269 0 0.00 194 47 19.50 - - - NUP160 0 genome.wustl.edu 37 11 47814420 47814420 + Missense_Mutation SNP T T C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 11 47814420 47814420 T C SNP NUP160 ENST00000378460 human ensembl 69_37n -1 known missense c.3368 p.N1123S 1.000 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 223 0 0.00 194 47 19.50 - - - NXPH3 0 genome.wustl.edu 37 17 47656146 47656147 + Frame_Shift_Ins INS - - C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 17 47656146 47656147 - C INS NXPH3 ENST00000328741 human ensembl 69_37n +1 known frame_shift_ins c.243_244 p.N83fs 0.998:0.995 pirsf_Neurexophilin pirsf_Neurexophilin - no_errors NXPH3 HGNC ENSG00000182575 27 0 0.00 16 2 11.11 - - - PCDHB12 0 genome.wustl.edu 37 5 140590267 140590267 + Silent SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 5 140590267 140590267 G A SNP PCDHB12 ENST00000239450 human ensembl 69_37n +1 known silent c.1788 p.S596 0.988 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 PCDHB12 HGNC ENSG00000120328 66 0 0.00 69 18 20.69 - - - PCDHB12 0 genome.wustl.edu 37 5 140590267 140590267 + Silent SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 5 140590267 140590267 G A SNP PCDHB12 ENST00000239450 human ensembl 69_37n +1 known silent c.1788 p.S596 0.988 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 PCDHB12 HGNC ENSG00000120328 106 0 0.00 69 18 20.69 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 84 0 0.00 68 16 19.05 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 84 0 0.00 68 16 19.05 - - - PIK3R4 0 genome.wustl.edu 37 3 130452677 130452677 + Missense_Mutation SNP G G C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 3 130452677 130452677 G C SNP PIK3R4 ENST00000356763 human ensembl 69_37n -1 known missense c.1165 p.L389V 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 560 0 0.00 336 65 16.09 - - - PIK3R4 0 genome.wustl.edu 37 3 130452677 130452677 + Missense_Mutation SNP G G C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 3 130452677 130452677 G C SNP PIK3R4 ENST00000356763 human ensembl 69_37n -1 known missense c.1165 p.L389V 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 541 0 0.00 336 65 16.09 - - - PLB1 0 genome.wustl.edu 37 2 28812939 28812940 + Frame_Shift_Del DEL AC AC - TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 2 28812939 28812940 AC - DEL PLB1 ENST00000422425 human ensembl 69_37n +1 known frame_shift_del c.2051_2052 p.N684fs 0.000:0.003 NULL pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type - no_errors PLB1 HGNC ENSG00000163803 69 0 0.00 59 35 35.00 - - - PLB1 0 genome.wustl.edu 37 2 28812939 28812940 + Frame_Shift_Del DEL AC AC - TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 2 28812939 28812940 AC - DEL PLB1 ENST00000422425 human ensembl 69_37n +1 known frame_shift_del c.2051_2052 p.N684fs 0.000:0.003 NULL pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type - no_errors PLB1 HGNC ENSG00000163803 86 0 0.00 59 35 35.00 - - - PRPF19 0 genome.wustl.edu 37 11 60666746 60666746 + Missense_Mutation SNP T T G TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 11 60666746 60666746 T G SNP PRPF19 ENST00000227524 human ensembl 69_37n -1 known missense c.859 p.T287P 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF19 HGNC ENSG00000110107 65 0 0.00 47 10 17.24 - - - PTK2B 0 genome.wustl.edu 37 8 27289870 27289871 + Frame_Shift_Ins INS - - C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 8 27289870 27289871 - C INS PTK2B ENST00000346049 human ensembl 69_37n +1 known frame_shift_ins c.979_980 p.Q329fs 0.999:1.000 pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 29 0 0.00 15 3 16.67 - - - RAD9B 0 genome.wustl.edu 37 12 110943484 110943485 + Frame_Shift_Ins INS - - T TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 12 110943484 110943485 - T INS RAD9B ENST00000392672 human ensembl 69_37n +1 known frame_shift_ins c.180_181 p.Q62fs 0.690:0.996 pfam_Rad9,pirsf_Cell_cycle_RAD9 pfam_Rad9,pirsf_Cell_cycle_RAD9 - no_errors RAD9B HGNC ENSG00000151164 39 0 0.00 27 3 10.00 - - - RAD9B 0 genome.wustl.edu 37 12 110943484 110943485 + Frame_Shift_Ins INS - - T TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 12 110943484 110943485 - T INS RAD9B ENST00000392672 human ensembl 69_37n +1 known frame_shift_ins c.180_181 p.Q62fs 0.690:0.996 pfam_Rad9,pirsf_Cell_cycle_RAD9 pfam_Rad9,pirsf_Cell_cycle_RAD9 - no_errors RAD9B HGNC ENSG00000151164 46 0 0.00 27 3 10.00 - - - RNGTT 0 genome.wustl.edu 37 6 89600290 89600290 + Missense_Mutation SNP C C T TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 6 89600290 89600290 C T SNP RNGTT ENST00000369485 human ensembl 69_37n -1 known missense c.820 p.V274I 1.000 pfam_mRNA_cap_enzyme,pirsf_mRNA_cap_enz_bifunc pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase - no_errors RNGTT HGNC ENSG00000111880 84 0 0.00 68 9 11.69 - - - RNGTT 0 genome.wustl.edu 37 6 89600290 89600290 + Missense_Mutation SNP C C T TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 6 89600290 89600290 C T SNP RNGTT ENST00000369485 human ensembl 69_37n -1 known missense c.820 p.V274I 1.000 pfam_mRNA_cap_enzyme,pirsf_mRNA_cap_enz_bifunc pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase - no_errors RNGTT HGNC ENSG00000111880 142 0 0.00 68 9 11.69 - - - RPL18A 0 genome.wustl.edu 37 19 17972210 17972211 + Frame_Shift_Ins INS - - CT TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 19 17972210 17972211 - CT INS RPL18A ENST00000222247 human ensembl 69_37n +1 known frame_shift_ins c.127_128 p.R43fs 1.000:1.000 pfam_Ribosomal_L18a/LX pfam_Ribosomal_L18a/LX - no_errors RPL18A HGNC ENSG00000105640 12 0 0.00 20 9 31.03 - - - RPL18A 0 genome.wustl.edu 37 19 17972210 17972211 + Frame_Shift_Ins INS - - CT TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 19 17972210 17972211 - CT INS RPL18A ENST00000222247 human ensembl 69_37n +1 known frame_shift_ins c.127_128 p.R43fs 1.000:1.000 pfam_Ribosomal_L18a/LX pfam_Ribosomal_L18a/LX - no_errors RPL18A HGNC ENSG00000105640 38 0 0.00 20 9 31.03 - - - SBF1 0 genome.wustl.edu 37 22 50900046 50900047 + Frame_Shift_Ins INS - - C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 22 50900046 50900047 - C INS SBF1 ENST00000380817 human ensembl 69_37n -1 known frame_shift_ins c.2745_2744 p.S916fs 0.064:0.930 pfam_GRAM,smart_GRAM pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 10 0 0.00 8 2 20.00 - - - SBF1 0 genome.wustl.edu 37 22 50900046 50900047 + Frame_Shift_Ins INS - - C TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 22 50900046 50900047 - C INS SBF1 ENST00000380817 human ensembl 69_37n -1 known frame_shift_ins c.2745_2744 p.S916fs 0.064:0.930 pfam_GRAM,smart_GRAM pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 15 0 0.00 8 2 20.00 - - - SGSM1 0 genome.wustl.edu 37 22 25308612 25308612 + Missense_Mutation SNP G G T TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 22 25308612 25308612 G T SNP SGSM1 ENST00000400359 human ensembl 69_37n +1 known missense c.2986 p.A996S 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 51 0 0.00 43 26 37.68 - - - SGSM1 0 genome.wustl.edu 37 22 25308612 25308612 + Missense_Mutation SNP G G T TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 22 25308612 25308612 G T SNP SGSM1 ENST00000400359 human ensembl 69_37n +1 known missense c.2986 p.A996S 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 87 0 0.00 43 26 37.68 - - - SLCO1B7 0 genome.wustl.edu 37 12 21168658 21168658 + Missense_Mutation SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 12 21168658 21168658 G A SNP SLCO1B7 ENST00000421593 human ensembl 69_37n +1 known missense c.29 p.R10K 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 112 0 0.00 72 34 32.08 - - - SLCO1B7 0 genome.wustl.edu 37 12 21168658 21168658 + Missense_Mutation SNP G G A TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 12 21168658 21168658 G A SNP SLCO1B7 ENST00000421593 human ensembl 69_37n +1 known missense c.29 p.R10K 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 97 0 0.00 72 34 32.08 - - - SUSD2 0 genome.wustl.edu 37 22 24583622 24583622 + Missense_Mutation SNP C C G TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 22 24583622 24583622 C G SNP SUSD2 ENST00000358321 human ensembl 69_37n +1 known missense c.1975 p.P659A 0.734 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 17 0 0.00 22 56 71.79 - - - SUSD2 0 genome.wustl.edu 37 22 24583622 24583622 + Missense_Mutation SNP C C G TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 22 24583622 24583622 C G SNP SUSD2 ENST00000358321 human ensembl 69_37n +1 known missense c.1975 p.P659A 0.734 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 30 0 0.00 22 56 71.79 - - - TAF6L 0 genome.wustl.edu 37 11 62554100 62554100 + Missense_Mutation SNP C C T TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 11 62554100 62554100 C T SNP TAF6L ENST00000294168 human ensembl 69_37n +1 known missense c.1201 p.L401F 0.999 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 28 0 0.00 10 4 28.57 - - - TAF6L 0 genome.wustl.edu 37 11 62554100 62554100 + Missense_Mutation SNP C C T TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 11 62554100 62554100 C T SNP TAF6L ENST00000294168 human ensembl 69_37n +1 known missense c.1201 p.L401F 0.999 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 14 0 0.00 10 4 28.57 - - - TRIM21 0 genome.wustl.edu 37 11 4409560 4409560 + Silent SNP C C T TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 63666721-38a8-46c4-b519-89dba2c58eb1 11 4409560 4409560 C T SNP TRIM21 ENST00000254436 human ensembl 69_37n -1 known silent c.705 p.R235 0.444 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Ubox_domain,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,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 373 0 0.00 392 45 10.23 - - - TRIM21 0 genome.wustl.edu 37 11 4409560 4409560 + Silent SNP C C T TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 11 4409560 4409560 C T SNP TRIM21 ENST00000254436 human ensembl 69_37n -1 known silent c.705 p.R235 0.444 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Ubox_domain,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,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 345 0 0.00 392 45 10.23 - - - ZC3H4 0 genome.wustl.edu 37 19 47570533 47570534 + Frame_Shift_Ins INS - - G TCGA-BH-A0DP-01A-21W-A071-09 TCGA-BH-A0DP-11A-12W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5a83cbfe-1803-42ca-820b-a4045e413f90 5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066 19 47570533 47570534 - G INS ZC3H4 ENST00000253048 human ensembl 69_37n -1 known frame_shift_ins c.2992_2991 p.V997fs 0.128:0.006 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 14 0 0.00 13 2 13.33 - - -