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 ABCC6 0 genome.wustl.edu 37 16 16255417 16255417 + Missense_Mutation SNP G G A TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 16 16255417 16255417 G A SNP ABCC6 ENST00000205557 human ensembl 69_37n -1 known missense c.3511 p.L1171F 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 22 0 0.00 13 18 58.06 - - - ARFGEF1 0 genome.wustl.edu 37 8 68130367 68130367 + Missense_Mutation SNP C C T TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 8 68130367 68130367 C T SNP ARFGEF1 ENST00000262215 human ensembl 69_37n -1 known missense c.4345 p.E1449K 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ENSG00000066777 27 0 0.00 46 13 22.03 - - - ATN1 0 genome.wustl.edu 37 12 7045891 7045892 + In_Frame_Ins INS - - CAG TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 12 7045891 7045892 - CAG INS ATN1 ENST00000356654 human ensembl 69_37n +1 known in_frame_ins c.1461_1462 p.491in_frame_insQ 0.002:0.834 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 31 0 0.00 46 7 13.21 - - - CCL13 0 genome.wustl.edu 37 17 32683553 32683554 + Frame_Shift_Ins INS - - C TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 17 32683553 32683554 - C INS CCL13 ENST00000225844 human ensembl 69_37n +1 known frame_shift_ins c.8_9 p.S4fs 0.324:0.310 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL13 HGNC ENSG00000181374 122 0 0.00 74 42 36.21 - - - CDH1 0 genome.wustl.edu 37 16 68842417 68842418 + Frame_Shift_Ins INS - - G TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 16 68842417 68842418 - G INS CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_ins c.478_479 p.P160fs 1.000:0.999 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 65 0 0.00 16 17 51.52 - - - DLGAP4 0 genome.wustl.edu 37 20 35060343 35060343 + Missense_Mutation SNP C C T TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 20 35060343 35060343 C T SNP DLGAP4 ENST00000339266 human ensembl 69_37n +1 known missense c.223 p.H75Y 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 58 0 0.00 27 19 41.30 - - - FAM157B 0 genome.wustl.edu 37 9 141107536 141107537 + RNA INS - - GCA TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 9 141107536 141107537 - GCA INS FAM157B ENST00000446912 human ensembl 69_37n +1 known rna NULL NULL 0.033:0.036 - - - no_errors FAM157B HGNC ENSG00000233013 25 0 0.00 47 44 48.35 - - - GIGYF2 0 genome.wustl.edu 37 2 233655446 233655446 + Nonsense_Mutation SNP C C T TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 2 233655446 233655446 C T SNP GIGYF2 ENST00000373566 human ensembl 69_37n +1 known nonsense c.817 p.R273* 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 91 0 0.00 64 76 54.29 - - - GOLGA8E 0 genome.wustl.edu 37 15 23444016 23444016 + RNA SNP G G A TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 15 23444016 23444016 G A SNP GOLGA8E ENST00000526079 human ensembl 69_37n +1 known rna NULL NULL 0.986 - - - no_errors GOLGA8E HGNC ENSG00000175676 32 0 0.00 12 15 55.56 - - - GPR61 0 genome.wustl.edu 37 1 110086977 110086977 + Missense_Mutation SNP G G A TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 1 110086977 110086977 G A SNP GPR61 ENST00000404129 human ensembl 69_37n +1 known missense c.1333 p.A445T 0.617 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR61 HGNC ENSG00000156097 17 0 0.00 17 7 29.17 - - - GRIA1 0 genome.wustl.edu 37 5 153143997 153143997 + Silent SNP C C T TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 5 153143997 153143997 C T SNP GRIA1 ENST00000448073 human ensembl 69_37n +1 known silent c.1857 p.S619 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 73 0 0.00 41 16 28.07 - - - GRIA1 0 genome.wustl.edu 37 5 153175111 153175111 + Silent SNP C C T TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 5 153175111 153175111 C T SNP GRIA1 ENST00000448073 human ensembl 69_37n +1 known silent c.2376 p.Y792 1.000 pfam_Iontro_glu_rcpt,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 111 0 0.00 71 23 24.47 - - - HOXC4 0 genome.wustl.edu 37 12 54448950 54448950 + Silent SNP G G A TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 12 54448950 54448950 G A SNP HOXC4 ENST00000303406 human ensembl 69_37n +1 known silent c.756 p.P252 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC4 HGNC ENSG00000198353 10 0 0.00 4 6 60.00 - - - ICAM4 0 genome.wustl.edu 37 19 10398280 10398280 + Missense_Mutation SNP G G A TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 19 10398280 10398280 G A SNP ICAM4 ENST00000380770 human ensembl 69_37n +1 known missense c.463 p.V155M 0.886 prints_ICAM_VCAM_N pfam_ICAM_N,prints_ICAM_VCAM_N - no_errors ICAM4 HGNC ENSG00000105371 44 0 0.00 16 16 50.00 - - - KIAA1109 0 genome.wustl.edu 37 4 123227196 123227197 + Frame_Shift_Ins INS - - A TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 4 123227196 123227197 - A INS KIAA1109 ENST00000264501 human ensembl 69_37n +1 known frame_shift_ins c.9837_9838 p.R3279fs 0.992:1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 73 0 0.00 43 26 37.68 - - - LDLRAD1 0 genome.wustl.edu 37 1 54479914 54479914 + Missense_Mutation SNP G G A TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 1 54479914 54479914 G A SNP LDLRAD1 ENST00000371360 human ensembl 69_37n -1 known missense c.197 p.T66I 0.002 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD1 HGNC ENSG00000203985 21 0 0.00 31 13 29.55 - - - LOXL4 0 genome.wustl.edu 37 10 100013398 100013398 + Missense_Mutation SNP G G T TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 10 100013398 100013398 G T SNP LOXL4 ENST00000260702 human ensembl 69_37n -1 known missense c.1747 p.R583S 1.000 pfam_Lysyl_oxidase pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt - no_errors LOXL4 HGNC ENSG00000138131 67 0 0.00 55 26 32.10 - - - MCOLN2 0 genome.wustl.edu 37 1 85397158 85397158 + Missense_Mutation SNP T T G TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 1 85397158 85397158 T G SNP MCOLN2 ENST00000370608 human ensembl 69_37n -1 known missense c.1429 p.I477L 0.001 pfam_PKD1_2_channel pfam_PKD1_2_channel - no_errors MCOLN2 HGNC ENSG00000153898 33 0 0.00 18 16 47.06 - - - NUP155 0 genome.wustl.edu 37 5 37310654 37310654 + Missense_Mutation SNP C C G TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 5 37310654 37310654 C G SNP NUP155 ENST00000231498 human ensembl 69_37n -1 known missense c.2628 p.K876N 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 36 0 0.00 45 19 29.69 - - - OR2L3 0 genome.wustl.edu 37 1 248224884 248224884 + Missense_Mutation SNP A A G TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 1 248224884 248224884 A G SNP OR2L3 ENST00000359959 human ensembl 69_37n +1 known missense c.901 p.T301A 0.052 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 46 0 0.00 29 24 45.28 - - - PARP14 0 genome.wustl.edu 37 3 122419979 122419979 + Missense_Mutation SNP C C G TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 3 122419979 122419979 C G SNP PARP14 ENST00000474629 human ensembl 69_37n +1 known missense c.2578 p.L860V 0.000 pfam_A1pp,smart_A1pp,pfscan_A1pp pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 20 0 0.00 12 10 45.45 - - - PHACTR3 0 genome.wustl.edu 37 20 58381222 58381222 + Missense_Mutation SNP G G C TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 20 58381222 58381222 G C SNP PHACTR3 ENST00000371015 human ensembl 69_37n +1 known missense c.1301 p.R434P 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 37 0 0.00 25 4 13.79 - - - PTPN3 0 genome.wustl.edu 37 9 112151535 112151535 + Missense_Mutation SNP G G A TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 9 112151535 112151535 G A SNP PTPN3 ENST00000374541 human ensembl 69_37n -1 known missense c.2231 p.T744M 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors PTPN3 HGNC ENSG00000070159 39 0 0.00 24 24 50.00 - - - RAB37 0 genome.wustl.edu 37 17 72739280 72739280 + Missense_Mutation SNP G G A TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 17 72739280 72739280 G A SNP RAB37 ENST00000392614 human ensembl 69_37n +1 known missense c.274 p.A92T 0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB37 HGNC ENSG00000172794 66 0 0.00 35 13 27.08 - - - RAD21L1 0 genome.wustl.edu 37 20 1209137 1209137 + Silent SNP T T C TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 20 1209137 1209137 T C SNP RAD21L1 ENST00000409241 human ensembl 69_37n +1 known silent c.40 p.L14 0.998 pfam_Rad21_Rec8_N pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors RAD21L1 HGNC ENSG00000244588 39 0 0.00 16 17 51.52 - - - RMI1 0 genome.wustl.edu 37 9 86617623 86617623 + Silent SNP C C T TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 9 86617623 86617623 C T SNP RMI1 ENST00000325875 human ensembl 69_37n +1 known silent c.1722 p.F574 0.982 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 82 0 0.00 88 22 20.00 - - - RYR3 0 genome.wustl.edu 37 15 33961576 33961576 + Nonsense_Mutation SNP C C T TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 15 33961576 33961576 C T SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known nonsense c.5641 p.Q1881* 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 61 0 0.00 36 32 47.06 - - - SGCA 0 genome.wustl.edu 37 17 48248012 48248012 + Missense_Mutation SNP A A G TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 17 48248012 48248012 A G SNP SGCA ENST00000262018 human ensembl 69_37n +1 known missense c.968 p.D323G 1.000 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCA HGNC ENSG00000108823 35 0 0.00 20 17 45.95 - - - SHPRH 0 genome.wustl.edu 37 6 146240555 146240555 + Nonsense_Mutation SNP G G A TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 6 146240555 146240555 G A SNP SHPRH ENST00000367503 human ensembl 69_37n -1 known nonsense c.4093 p.R1365* 1.000 NULL pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 57 0 0.00 48 38 44.19 - - - SMARCA1 0 genome.wustl.edu 37 X 128657222 128657222 + Silent SNP C C T TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 X 128657222 128657222 C T SNP SMARCA1 ENST00000371122 human ensembl 69_37n -1 known silent c.126 p.A42 0.999 NULL pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 61 0 0.00 87 51 36.96 - - - SRPRB 0 genome.wustl.edu 37 3 133524816 133524816 + Missense_Mutation SNP G G A TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 3 133524816 133524816 G A SNP SRPRB ENST00000466490 human ensembl 69_37n +1 known missense c.124 p.V42M 0.838 NULL pfam_SRP_receptor_beta_su,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA - no_errors SRPRB HGNC ENSG00000144867 38 0 0.00 33 18 35.29 - - - SSFA2 0 genome.wustl.edu 37 2 182765477 182765477 + Missense_Mutation SNP T T G TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 2 182765477 182765477 T G SNP SSFA2 ENST00000431877 human ensembl 69_37n +1 known missense c.558 p.N186K 1.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 86 0 0.00 47 60 56.07 - - - SVEP1 0 genome.wustl.edu 37 9 113219551 113219551 + Missense_Mutation SNP G G A TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 9 113219551 113219551 G A SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known missense c.3658 p.P1220S 0.705 pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 74 0 0.00 51 16 23.88 - - - TBC1D26 0 genome.wustl.edu 37 17 15640806 15640806 + Missense_Mutation SNP A A C TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 17 15640806 15640806 A C SNP TBC1D26 ENST00000437605 human ensembl 69_37n +1 known missense c.167 p.E56A 0.285 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D26 HGNC ENSG00000214946 47 0 0.00 27 10 27.03 - - - TBP 0 genome.wustl.edu 37 6 170871004 170871004 + Silent SNP G G A TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 6 170871004 170871004 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.180 p.Q60 0.991 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 17 0 0.00 40 8 16.67 - - - TBP 0 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 15 0 0.00 35 31 46.97 - - - TCP10 0 genome.wustl.edu 37 6 167787875 167787876 + Frame_Shift_Del DEL CT CT - TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 6 167787875 167787876 CT - DEL TCP10 ENST00000397829 human ensembl 69_37n -1 known frame_shift_del c.753_752 p.E251fs 0.000:0.000 NULL NULL - no_errors TCP10 HGNC ENSG00000203690 122 0 0.00 40 61 59.22 - - - TRPM6 0 genome.wustl.edu 37 9 77354721 77354721 + Missense_Mutation SNP A A G TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 9 77354721 77354721 A G SNP TRPM6 ENST00000451710 human ensembl 69_37n -1 known missense c.5417 p.I1806T 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 42 0 0.00 23 29 55.77 - - - TTC25 0 genome.wustl.edu 37 17 40091966 40091966 + RNA SNP C C T TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 17 40091966 40091966 C T SNP TTC25 ENST00000377540 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors TTC25 HGNC ENSG00000204815 82 0 0.00 37 22 37.29 - - - UBE2W 0 genome.wustl.edu 37 8 74717957 74717957 + Missense_Mutation SNP C C T TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 8 74717957 74717957 C T SNP UBE2W ENST00000419880 human ensembl 69_37n -1 known missense c.404 p.R135Q 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2W HGNC ENSG00000104343 105 0 0.00 121 101 45.50 - - - USP9X 0 genome.wustl.edu 37 X 40990740 40990741 + Frame_Shift_Del DEL AG AG - TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 X 40990740 40990741 AG - DEL USP9X ENST00000324545 human ensembl 69_37n +1 known frame_shift_del c.273_274 p.E93fs 1.000:1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 139 0 0.00 68 74 50.68 - - - UST 0 genome.wustl.edu 37 6 149275038 149275038 + Missense_Mutation SNP G G A TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 6 149275038 149275038 G A SNP UST ENST00000367463 human ensembl 69_37n +1 known missense c.478 p.E160K 0.999 pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase - no_errors UST HGNC ENSG00000111962 88 0 0.00 93 19 16.96 - - - ZFC3H1 0 genome.wustl.edu 37 12 72037937 72037937 + Missense_Mutation SNP G G T TCGA-A2-A1FV-01A-11D-A13L-09 TCGA-A2-A1FV-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51b7064c-d9fc-4312-ad25-b014ef81c821 f2b83096-9f51-4664-b365-747eb146a4d7 12 72037937 72037937 G T SNP ZFC3H1 ENST00000378743 human ensembl 69_37n -1 known missense c.1441 p.Q481K 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 210 0 0.00 139 101 42.08 - - -