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 ADCY9 0 genome.wustl.edu 37 16 4164238 4164239 + Frame_Shift_Ins INS - - C TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 16 4164238 4164239 - C INS ADCY9 ENST00000294016 human ensembl 69_37n -1 known frame_shift_ins c.1206_1205 p.F403fs 0.990:1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 28 0 0.00 23 64 73.56 - - - AEN 0 genome.wustl.edu 37 15 89169685 89169687 + In_Frame_Del DEL AGT AGT - TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 AGT AGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 15 89169685 89169687 AGT - DEL AEN ENST00000379231 human ensembl 69_37n +1 known in_frame_del c.245_247 p.QC82in_frame_delR 0.002:0.000:0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors AEN HGNC ENSG00000181026 8 0 0.00 9 7 43.75 - - - BAHD1 0 genome.wustl.edu 37 15 40750982 40750982 + Missense_Mutation SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 15 40750982 40750982 G A SNP BAHD1 ENST00000416165 human ensembl 69_37n +1 known missense c.319 p.E107K 0.607 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 23 0 0.00 26 12 31.58 - - - C4orf3 0 genome.wustl.edu 37 4 120221825 120221825 + Missense_Mutation SNP A A C TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 4 120221825 120221825 A C SNP C4orf3 ENST00000399075 human ensembl 69_37n -1 known missense c.265 p.C89G 0.000 NULL NULL - no_errors C4orf3 HGNC ENSG00000164096 16 0 0.00 27 7 20.59 - - - CD5L 0 genome.wustl.edu 37 1 157803094 157803094 + Nonsense_Mutation SNP C C T TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 1 157803094 157803094 C T SNP CD5L ENST00000368174 human ensembl 69_37n -1 known nonsense c.927 p.W309* 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors CD5L HGNC ENSG00000073754 132 0 0.00 187 32 14.61 - - - COL4A4 0 genome.wustl.edu 37 2 227872899 227872899 + Silent SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 2 227872899 227872899 G A SNP COL4A4 ENST00000396625 human ensembl 69_37n -1 known silent c.4644 p.P1548 0.004 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 23 0 0.00 27 8 22.86 - - - COL4A4 0 genome.wustl.edu 37 2 227924177 227924177 + Missense_Mutation SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 2 227924177 227924177 G A SNP COL4A4 ENST00000396625 human ensembl 69_37n -1 known missense c.2327 p.S776L 0.938 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 193 0 0.00 136 34 20.00 - - - CUX2 0 genome.wustl.edu 37 12 111746104 111746104 + Missense_Mutation SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 12 111746104 111746104 G A SNP CUX2 ENST00000261726 human ensembl 69_37n +1 known missense c.1125 p.M375I 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 62 0 0.00 106 89 45.64 - - - ELAC2 0 genome.wustl.edu 37 17 12898137 12898137 + Frame_Shift_Del DEL C C - TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 17 12898137 12898137 C - DEL ELAC2 ENST00000338034 human ensembl 69_37n -1 known frame_shift_del c.1973 p.G658fs 1.000 pfam_Beta-lactamas-like pfam_Beta-lactamas-like - no_errors ELAC2 HGNC ENSG00000006744 72 0 0.00 73 72 49.66 - - - ELAC2 0 genome.wustl.edu 37 17 12898144 12898144 + Frame_Shift_Del DEL T T - TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 17 12898144 12898144 T - DEL ELAC2 ENST00000338034 human ensembl 69_37n -1 known frame_shift_del c.1966 p.T656fs 0.421 pfam_Beta-lactamas-like pfam_Beta-lactamas-like - no_errors ELAC2 HGNC ENSG00000006744 77 0 0.00 75 77 50.00 - - - EPB42 0 genome.wustl.edu 37 15 43500959 43500959 + Missense_Mutation SNP C C G TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 15 43500959 43500959 C G SNP EPB42 ENST00000300215 human ensembl 69_37n -1 known missense c.937 p.G313R 1.000 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors EPB42 HGNC ENSG00000166947 56 0 0.00 36 6 14.29 - - - F10 0 genome.wustl.edu 37 13 113803265 113803265 + Missense_Mutation SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 13 113803265 113803265 G A SNP F10 ENST00000375559 human ensembl 69_37n +1 known missense c.901 p.A301T 0.000 pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6 - no_errors F10 HGNC ENSG00000126218 14 0 0.00 22 26 54.17 - - - FAH 0 genome.wustl.edu 37 15 80445398 80445399 + Frame_Shift_Ins INS - - G TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 15 80445398 80445399 - G INS FAH ENST00000261755 human ensembl 69_37n +1 known frame_shift_ins c.2_3 p.S2fs 1.000:1.000 superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 25 0 0.00 11 4 26.67 - - - FAM167B 0 genome.wustl.edu 37 1 32713099 32713099 + Missense_Mutation SNP C C T TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 1 32713099 32713099 C T SNP FAM167B ENST00000373582 human ensembl 69_37n +1 known missense c.77 p.S26F 0.999 NULL pfam_FAM167 - no_errors FAM167B HGNC ENSG00000183615 39 0 0.00 36 9 20.00 - - - FGGY 0 genome.wustl.edu 37 1 60103948 60103948 + Silent SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 1 60103948 60103948 G A SNP FGGY ENST00000303721 human ensembl 69_37n +1 known silent c.1122 p.K374 1.000 pfam_Carb_kinase_FGGY_C,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 304 1 0.33 319 92 22.38 - - - GPR142 0 genome.wustl.edu 37 17 72367989 72367989 + Frame_Shift_Del DEL G G - TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 17 72367989 72367989 G - DEL GPR142 ENST00000335666 human ensembl 69_37n +1 known frame_shift_del c.639 p.G214fs 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR142 HGNC ENSG00000257008 11 0 0.00 9 12 57.14 - - - GRIP2 0 genome.wustl.edu 37 3 14559282 14559282 + RNA SNP C C T TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 3 14559282 14559282 C T SNP GRIP2 ENST00000273083 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors GRIP2 HGNC ENSG00000144596 10 0 0.00 18 5 21.74 - - - HOXA11 0 genome.wustl.edu 37 7 27224568 27224569 + Frame_Shift_Ins INS - - A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 7 27224568 27224569 - A INS HOXA11 ENST00000006015 human ensembl 69_37n -1 known frame_shift_ins c.196_195 p.A65fs 1.000:1.000 pfam_DUF3528 pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors HOXA11 HGNC ENSG00000005073 9 0 0.00 8 5 38.46 - - - INPPL1 0 genome.wustl.edu 37 11 71948208 71948209 + Frame_Shift_Ins INS - - C TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 11 71948208 71948209 - C INS INPPL1 ENST00000298229 human ensembl 69_37n +1 known frame_shift_ins c.2920_2921 p.P977fs 0.025:0.066 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 64 0 0.00 18 4 18.18 - - - KIF26B 0 genome.wustl.edu 37 1 245582913 245582913 + Frame_Shift_Del DEL G G - TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 1 245582913 245582913 G - DEL KIF26B ENST00000407071 human ensembl 69_37n +1 known frame_shift_del c.1032 p.G345fs 0.997 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 126 0 0.00 90 81 47.37 - - - KLF11 0 genome.wustl.edu 37 2 10192628 10192628 + Silent SNP T T G TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 2 10192628 10192628 T G SNP KLF11 ENST00000305883 human ensembl 69_37n +1 known silent c.1533 p.S511 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF11 HGNC ENSG00000172059 22 0 0.00 24 10 29.41 - - - MAGED2 0 genome.wustl.edu 37 X 54841170 54841170 + Missense_Mutation SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 X 54841170 54841170 G A SNP MAGED2 ENST00000218439 human ensembl 69_37n +1 known missense c.1348 p.E450K 1.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGED2 HGNC ENSG00000102316 139 0 0.00 146 26 15.12 - - - MAP3K1 0 genome.wustl.edu 37 5 56178411 56178411 + Silent SNP C C T TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 5 56178411 56178411 C T SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel silent c.3384 p.L1128 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 175 0 0.00 177 28 13.66 - - - MAST1 0 genome.wustl.edu 37 19 12979921 12979921 + Missense_Mutation SNP C C A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 19 12979921 12979921 C A SNP MAST1 ENST00000251472 human ensembl 69_37n +1 known missense c.2815 p.P939T 1.000 superfamily_PDZ pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 45 0 0.00 90 11 10.89 - - - MEFV 0 genome.wustl.edu 37 16 3304386 3304386 + Missense_Mutation SNP G G C TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 16 3304386 3304386 G C SNP MEFV ENST00000219596 human ensembl 69_37n -1 known missense c.682 p.P228A 0.000 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 26 0 0.00 11 26 68.42 - - - MEFV 0 genome.wustl.edu 37 16 3304392 3304392 + Frame_Shift_Del DEL A A - TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 16 3304392 3304392 A - DEL MEFV ENST00000219596 human ensembl 69_37n -1 known frame_shift_del c.676 p.C226fs 0.000 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 22 0 0.00 9 18 64.29 - - - MKI67 0 genome.wustl.edu 37 10 129914073 129914073 + Missense_Mutation SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 10 129914073 129914073 G A SNP MKI67 ENST00000368654 human ensembl 69_37n -1 known missense c.599 p.S200F 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 99 0 0.00 92 38 29.23 - - - MLL4 0 genome.wustl.edu 37 19 36216136 36216136 + Missense_Mutation SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 19 36216136 36216136 G A SNP MLL4 ENST00000222270 human ensembl 69_37n +1 known missense c.3544 p.E1182K 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors MLL4 Clone_based_vega_gene ENSG00000105663 20 0 0.00 15 15 50.00 - - - MUC20 0 genome.wustl.edu 37 3 195346862 195346862 + Silent SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 3 195346862 195346862 G A SNP MUC20 ENST00000381954 human ensembl 69_37n +1 known silent c.1164 p.L388 0.001 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 42 0 0.00 30 5 14.29 - - - MYBPC1 0 genome.wustl.edu 37 12 102040637 102040637 + Silent SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 12 102040637 102040637 G A SNP MYBPC1 ENST00000361466 human ensembl 69_37n +1 known silent c.1062 p.E354 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC1 HGNC ENSG00000196091 88 0 0.00 78 18 18.75 - - - NFATC4 0 genome.wustl.edu 37 14 24842944 24842944 + Missense_Mutation SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 14 24842944 24842944 G A SNP NFATC4 ENST00000413692 human ensembl 69_37n +1 known missense c.1792 p.E598K 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 54 0 0.00 24 4 14.29 - - - NMT1 0 genome.wustl.edu 37 17 43163979 43163979 + Missense_Mutation SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 17 43163979 43163979 G A SNP NMT1 ENST00000258960 human ensembl 69_37n +1 known missense c.344 p.R115Q 1.000 superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC ENSG00000136448 31 0 0.00 41 16 28.07 - - - NOL3 0 genome.wustl.edu 37 16 67208834 67208835 + Frame_Shift_Ins INS - - C TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 16 67208834 67208835 - C INS NOL3 ENST00000568146 human ensembl 69_37n +1 known frame_shift_ins c.596_597 p.T200fs 0.000:0.003 NULL pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD - no_errors NOL3 HGNC ENSG00000140939 148 0 0.00 92 14 13.21 - - - NOP14-AS1 0 genome.wustl.edu 37 4 2952728 2952729 + RNA DEL GG GG - TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 4 2952728 2952729 GG - DEL NOP14-AS1 ENST00000515194 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000 - - - no_errors NOP14-AS1 HGNC ENSG00000249673 49 0 0.00 47 67 58.77 - - - NOP14-AS1 0 genome.wustl.edu 37 4 2952735 2952735 + RNA SNP A A T TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 4 2952735 2952735 A T SNP NOP14-AS1 ENST00000515194 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors NOP14-AS1 HGNC ENSG00000249673 53 0 0.00 51 77 60.16 - - - OR4F21 0 genome.wustl.edu 37 8 116434 116434 + Silent SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 8 116434 116434 G A SNP OR4F21 ENST00000320901 human ensembl 69_37n -1 known silent c.591 p.F197 0.520 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4F21 HGNC ENSG00000176269 68 0 0.00 86 14 14.00 - - - PCDHB6 0 genome.wustl.edu 37 5 140531687 140531688 + Frame_Shift_Del DEL GC GC - TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 5 140531687 140531688 GC - DEL PCDHB6 ENST00000231136 human ensembl 69_37n +1 known frame_shift_del c.1849_1850 p.H618fs 0.986:0.995 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 PCDHB6 HGNC ENSG00000113211 45 0 0.00 30 15 33.33 - - - PFAS 0 genome.wustl.edu 37 17 8168403 8168403 + Frame_Shift_Del DEL C C - TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 17 8168403 8168403 C - DEL PFAS ENST00000314666 human ensembl 69_37n +1 known frame_shift_del c.2240 p.L748fs 1.000 superfamily_PurM_N-like,tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C,pfam_AIR_synth,superfamily_PurM_N-like,superfamily_AIR_synth_C,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 8 0 0.00 10 11 52.38 - - - RBM15B 0 genome.wustl.edu 37 3 51430439 51430439 + Silent SNP C C T TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 3 51430439 51430439 C T SNP RBM15B ENST00000323686 human ensembl 69_37n +1 novel silent c.1609 p.L537 0.993 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 21 0 0.00 8 13 61.90 - - - RNF213 0 genome.wustl.edu 37 17 78348337 78348338 + Frame_Shift_Ins INS - - AG TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 17 78348337 78348338 - AG INS RNF213 ENST00000582970 human ensembl 69_37n +1 known frame_shift_ins c.13022_13023 p.A4342fs 0.889:0.995 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 28 0 0.00 26 15 36.59 - - - SLC12A4 0 genome.wustl.edu 37 16 67979728 67979729 + Frame_Shift_Ins INS - - CG TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 16 67979728 67979729 - CG INS SLC12A4 ENST00000422611 human ensembl 69_37n -1 known frame_shift_ins c.2792_2791 p.M931fs 1.000:1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 10 0 0.00 24 103 81.10 - - - SMAD3 0 genome.wustl.edu 37 15 67473741 67473742 + Frame_Shift_Ins INS - - G TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 15 67473741 67473742 - G INS SMAD3 ENST00000327367 human ensembl 69_37n +1 known frame_shift_ins c.821_822 p.S275fs 1.000:1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC ENSG00000166949 37 0 0.00 16 6 27.27 - - - SRP68 0 genome.wustl.edu 37 17 74068439 74068439 + Missense_Mutation SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 17 74068439 74068439 G A SNP SRP68 ENST00000307877 human ensembl 69_37n -1 known missense c.134 p.S45L 0.059 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 86 0 0.00 56 27 32.53 - - - SRPX2 0 genome.wustl.edu 37 X 99921786 99921787 + Frame_Shift_Del DEL GG GG - TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 X 99921786 99921787 GG - DEL SRPX2 ENST00000373004 human ensembl 69_37n +1 known frame_shift_del c.817_818 p.G273fs 1.000:1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX2 HGNC ENSG00000102359 90 0 0.00 66 143 68.42 - - - SYTL5 0 genome.wustl.edu 37 X 37985868 37985868 + Nonsense_Mutation SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 X 37985868 37985868 G A SNP SYTL5 ENST00000456733 human ensembl 69_37n +1 known nonsense c.2144 p.W715* 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain - no_errors SYTL5 HGNC ENSG00000147041 64 0 0.00 61 47 43.52 - - - SYTL5 0 genome.wustl.edu 37 X 37985869 37985869 + Nonsense_Mutation SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 X 37985869 37985869 G A SNP SYTL5 ENST00000456733 human ensembl 69_37n +1 known nonsense c.2145 p.W715* 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain - no_errors SYTL5 HGNC ENSG00000147041 64 0 0.00 60 46 43.40 - - - TBC1D20 0 genome.wustl.edu 37 20 422288 422288 + Missense_Mutation SNP G G T TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 20 422288 422288 G T SNP TBC1D20 ENST00000354200 human ensembl 69_37n -1 known missense c.570 p.N190K 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D20 HGNC ENSG00000125875 53 0 0.00 105 14 11.76 - - - TM9SF4 0 genome.wustl.edu 37 20 30737490 30737491 + Frame_Shift_Ins INS - - C TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 20 30737490 30737491 - C INS TM9SF4 ENST00000398022 human ensembl 69_37n +1 known frame_shift_ins c.1008_1009 p.Q338fs 1.000:1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 47 0 0.00 39 5 11.36 - - - TMEM132A 0 genome.wustl.edu 37 11 60704276 60704279 + Frame_Shift_Del DEL TTGT TTGT - TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 TTGT TTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 11 60704276 60704279 TTGT - DEL TMEM132A ENST00000005286 human ensembl 69_37n +1 known frame_shift_del c.2972_2975 p.L991fs 1.000:1.000:1.000:1.000 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 19 0 0.00 8 6 42.86 - - - TSC22D1 0 genome.wustl.edu 37 13 45150014 45150014 + Missense_Mutation SNP G G A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 13 45150014 45150014 G A SNP TSC22D1 ENST00000458659 human ensembl 69_37n -1 known missense c.197 p.P66L 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 16 0 0.00 9 8 47.06 - - - TTN 0 genome.wustl.edu 37 2 179593267 179593267 + Frame_Shift_Del DEL G G - TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 2 179593267 179593267 G - DEL TTN ENST00000342992 human ensembl 69_37n -1 known frame_shift_del c.15654 p.F5219fs 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 123 0 0.00 84 42 31.82 - - - UNC5A 0 genome.wustl.edu 37 5 176305378 176305378 + Frame_Shift_Del DEL T T - TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 5 176305378 176305378 T - DEL UNC5A ENST00000329542 human ensembl 69_37n +1 known frame_shift_del c.2003 p.L668fs 1.000 NULL pfam_ZU5,pfam_Death,pfam_Ig_I-set,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5A HGNC ENSG00000113763 26 0 0.00 7 4 36.36 - - - ZBTB48 0 genome.wustl.edu 37 1 6649225 6649225 + Frame_Shift_Del DEL C C - TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 1 6649225 6649225 C - DEL ZBTB48 ENST00000377674 human ensembl 69_37n +1 known frame_shift_del c.2020 p.S675fs 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 24 0 0.00 13 20 58.82 - - - ZFYVE26 0 genome.wustl.edu 37 14 68229469 68229469 + Missense_Mutation SNP C C T TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 14 68229469 68229469 C T SNP ZFYVE26 ENST00000347230 human ensembl 69_37n -1 known missense c.6079 p.D2027N 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 79 0 0.00 131 52 27.96 - - - ZFYVE28 0 genome.wustl.edu 37 4 2341340 2341340 + Missense_Mutation SNP T T A TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 4 2341340 2341340 T A SNP ZFYVE28 ENST00000290974 human ensembl 69_37n -1 known missense c.361 p.S121C 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 11 0 0.00 3 7 70.00 - - - ZNF592 0 genome.wustl.edu 37 15 85334030 85334030 + Missense_Mutation SNP A A T TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 15 85334030 85334030 A T SNP ZNF592 ENST00000299927 human ensembl 69_37n +1 known missense c.2315 p.E772V 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 77 0 0.00 84 12 12.50 - - - ZNRF4 0 genome.wustl.edu 37 19 5455855 5455855 + Missense_Mutation SNP C C T TCGA-A8-A08H-01A-21W-A019-09 TCGA-A8-A08H-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26161c06-f816-489a-8800-e0a68a4ce78a c384d5d9-b1d6-4553-8f3f-7602dbaca681 19 5455855 5455855 C T SNP ZNRF4 ENST00000222033 human ensembl 69_37n +1 known missense c.353 p.A118V 0.757 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 37 0 0.00 27 17 38.64 - - -