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 ADCY7 0 genome.wustl.edu 37 16 50334759 50334759 + Missense_Mutation SNP C C T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 16 50334759 50334759 C T SNP ADCY7 ENST00000254235 human ensembl 69_37n +1 known missense c.1210 p.R404W 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 279 1 0.36 304 100 24.75 - - - AKAP6 0 genome.wustl.edu 37 14 33290718 33290718 + Silent SNP G G A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 14 33290718 33290718 G A SNP AKAP6 ENST00000280979 human ensembl 69_37n +1 known silent c.3699 p.E1233 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 140 0 0.00 25 6 19.35 - - - AKNA 0 genome.wustl.edu 37 9 117106081 117106081 + Missense_Mutation SNP G G A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 9 117106081 117106081 G A SNP AKNA ENST00000307564 human ensembl 69_37n -1 known missense c.3664 p.H1222Y 0.999 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 204 2 0.97 161 32 16.58 - - - ANO6 0 genome.wustl.edu 37 12 45810499 45810499 + Missense_Mutation SNP G G A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 12 45810499 45810499 G A SNP ANO6 ENST00000425752 human ensembl 69_37n +1 known missense c.2029 p.V677I 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 490 0 0.00 112 58 34.12 - - - ARHGEF10L 0 genome.wustl.edu 37 1 17964425 17964425 + Missense_Mutation SNP A A G TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 1 17964425 17964425 A G SNP ARHGEF10L ENST00000361221 human ensembl 69_37n +1 known missense c.1970 p.Q657R 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 191 0 0.00 156 52 25.00 - - - ASPM 0 genome.wustl.edu 37 1 197073453 197073454 + Frame_Shift_Ins INS - - C TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 1 197073453 197073454 - C INS ASPM ENST00000367409 human ensembl 69_37n -1 known frame_shift_ins c.4928_4927 p.Y1643fs 0.017:0.050 pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 78 0 0.00 3 3 50.00 - - - ATP10B 0 genome.wustl.edu 37 5 159992485 159992485 + Missense_Mutation SNP C C A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 5 159992485 159992485 C A SNP ATP10B ENST00000327245 human ensembl 69_37n -1 known missense c.4361 p.R1454L 0.996 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 236 0 0.00 21 26 55.32 - - - BCORL1 0 genome.wustl.edu 37 X 129171506 129171506 + Silent SNP G G A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b X 129171506 129171506 G A SNP BCORL1 ENST00000303743 human ensembl 69_37n +1 known silent c.4692 p.T1564 0.014 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 75 0 0.00 108 60 35.71 - - - C1orf194 0 genome.wustl.edu 37 1 109649741 109649741 + Missense_Mutation SNP G G T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 1 109649741 109649741 G T SNP C1orf194 ENST00000369948 human ensembl 69_37n -1 known missense c.202 p.P68T 1.000 pfam_DUF3695 pfam_DUF3695 - no_errors C1orf194 HGNC ENSG00000179902 261 0 0.00 218 65 22.97 - - - C1orf226 0 genome.wustl.edu 37 1 162351928 162351929 + Frame_Shift_Del DEL GA GA - TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 1 162351928 162351929 GA - DEL C1orf226 ENST00000426197 human ensembl 69_37n +1 known frame_shift_del c.366_367 p.T123fs 0.913:0.931 NULL NULL - no_errors C1orf226 HGNC ENSG00000239887 21 0 0.00 41 18 30.00 - - - CDK18 0 genome.wustl.edu 37 1 205492722 205492722 + Missense_Mutation SNP G G A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 1 205492722 205492722 G A SNP CDK18 ENST00000506784 human ensembl 69_37n +1 known missense c.242 p.R81Q 0.244 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK18 HGNC ENSG00000117266 20 0 0.00 29 21 42.00 - - - CHD6 0 genome.wustl.edu 37 20 40127957 40127957 + Frame_Shift_Del DEL A A - TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 20 40127957 40127957 A - DEL CHD6 ENST00000373233 human ensembl 69_37n -1 known frame_shift_del c.893 p.L298fs 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 103 0 0.00 18 2 10.00 - - - CHKB 0 genome.wustl.edu 37 22 51018482 51018482 + Missense_Mutation SNP T T G TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 22 51018482 51018482 T G SNP CHKB ENST00000406938 human ensembl 69_37n -1 known missense c.848 p.E283A 1.000 pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKB HGNC ENSG00000100288 96 0 0.00 79 12 13.19 - - - CHORDC1 0 genome.wustl.edu 37 11 89938668 89938668 + Frame_Shift_Del DEL C C - TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 11 89938668 89938668 C - DEL CHORDC1 ENST00000320585 human ensembl 69_37n -1 known frame_shift_del c.629 p.G210fs 1.000 pfam_CHORD pfam_CHORD,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors CHORDC1 HGNC ENSG00000110172 70 0 0.00 15 2 11.76 - - - COL4A6 0 genome.wustl.edu 37 X 107418928 107418928 + Missense_Mutation SNP C C A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b X 107418928 107418928 C A SNP COL4A6 ENST00000372216 human ensembl 69_37n -1 known missense c.2789 p.G930V 0.959 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 185 0 0.00 68 44 39.29 - - - CSDE1 0 genome.wustl.edu 37 1 115276687 115276687 + Missense_Mutation SNP G G C TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 1 115276687 115276687 G C SNP CSDE1 ENST00000369530 human ensembl 69_37n -1 known missense c.679 p.H227D 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 111 0 0.00 21 23 52.27 - - - CUBN 0 genome.wustl.edu 37 10 16878371 16878371 + Missense_Mutation SNP T T A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 10 16878371 16878371 T A SNP CUBN ENST00000377833 human ensembl 69_37n -1 known missense c.10043 p.N3348I 0.001 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 63 0 0.00 19 13 40.62 - - - CXorf57 0 genome.wustl.edu 37 X 105868340 105868340 + Missense_Mutation SNP C C G TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b X 105868340 105868340 C G SNP CXorf57 ENST00000372548 human ensembl 69_37n +1 known missense c.807 p.D269E 0.594 superfamily_NA-bd_OB-fold-like superfamily_NA-bd_OB-fold-like - no_errors CXorf57 HGNC ENSG00000147231 318 0 0.00 49 38 43.68 - - - DHX30 0 genome.wustl.edu 37 3 47891166 47891166 + Missense_Mutation SNP G G C TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 3 47891166 47891166 G C SNP DHX30 ENST00000445061 human ensembl 69_37n +1 known missense c.3238 p.V1080L 0.994 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 164 0 0.00 158 108 40.60 - - - DIRAS2 0 genome.wustl.edu 37 9 93375798 93375798 + Silent SNP G G A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 9 93375798 93375798 G A SNP DIRAS2 ENST00000375765 human ensembl 69_37n -1 known silent c.312 p.I104 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS2 HGNC ENSG00000165023 88 0 0.00 89 27 23.28 - - - DMD 0 genome.wustl.edu 37 X 32305754 32305754 + Missense_Mutation SNP G G T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b X 32305754 32305754 G T SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.6182 p.A2061E 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 205 0 0.00 44 7 13.73 - - - ECE1 0 genome.wustl.edu 37 1 21585236 21585238 + In_Frame_Del DEL AGA AGA - TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 1 21585236 21585238 AGA - DEL ECE1 ENST00000374893 human ensembl 69_37n -1 known in_frame_del c.712_710 p.F237in_frame_del 1.000:1.000:1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 390 0 0.00 281 235 45.19 - - - EFEMP1 0 genome.wustl.edu 37 2 56149540 56149540 + Silent SNP C C T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 2 56149540 56149540 C T SNP EFEMP1 ENST00000355426 human ensembl 69_37n -1 known silent c.36 p.L12 1.000 NULL pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 287 0 0.00 333 55 14.18 - - - ELP3 0 genome.wustl.edu 37 8 27995267 27995267 + Frame_Shift_Del DEL C C - TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 8 27995267 27995267 C - DEL ELP3 ENST00000256398 human ensembl 69_37n +1 known frame_shift_del c.959 p.L321fs 1.000 smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,tigrfam_Hist_AcTrfase_ELP3 pfam_rSAM,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3 - no_errors ELP3 HGNC ENSG00000134014 115 0 0.00 16 2 11.11 - - - FRG1B 0 genome.wustl.edu 37 20 29632638 29632638 + Missense_Mutation SNP C C A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 20 29632638 29632638 C A SNP FRG1B ENST00000278882 human ensembl 69_37n +1 known missense c.453 p.H151Q 0.999 pfam_FRG1 pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 26 0 0.00 4 6 60.00 - - - HAVCR1 0 genome.wustl.edu 37 5 156456795 156456795 + Missense_Mutation SNP G G A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 5 156456795 156456795 G A SNP HAVCR1 ENST00000425854 human ensembl 69_37n -1 known missense c.1010 p.S337F 0.001 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors HAVCR1 HGNC ENSG00000113249 300 1 0.33 124 14 10.14 - - - HTR3D 0 genome.wustl.edu 37 3 183756031 183756031 + Missense_Mutation SNP C C T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 3 183756031 183756031 C T SNP HTR3D ENST00000428798 human ensembl 69_37n +1 known missense c.739 p.R247C 0.702 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 398 0 0.00 488 115 19.07 - - - IFT74 0 genome.wustl.edu 37 9 26984316 26984316 + Frame_Shift_Del DEL A A - TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 9 26984316 26984316 A - DEL IFT74 ENST00000380062 human ensembl 69_37n +1 known frame_shift_del c.367 p.N123fs 1.000 NULL NULL - no_errors IFT74 HGNC ENSG00000096872 44 0 0.00 3 2 40.00 - - - ITSN2 0 genome.wustl.edu 37 2 24494778 24494779 + Frame_Shift_Ins INS - - A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 2 24494778 24494779 - A INS ITSN2 ENST00000355123 human ensembl 69_37n -1 known frame_shift_ins c.2114_2113 p.K705fs 0.829:0.981 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 66 0 0.00 13 2 13.33 - - - ITSN2 0 genome.wustl.edu 37 2 24494798 24494799 + Frame_Shift_Ins INS - - C TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 2 24494798 24494799 - C INS ITSN2 ENST00000355123 human ensembl 69_37n -1 known frame_shift_ins c.2094_2093 p.G699fs 1.000:1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 52 0 0.00 11 2 15.38 - - - KCP 0 genome.wustl.edu 37 7 128542848 128542848 + RNA SNP G G T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 7 128542848 128542848 G T SNP KCP ENST00000257704 human ensembl 69_37n -1 known rna NULL NULL 0.994 - - - no_errors KCP HGNC ENSG00000135253 172 0 0.00 137 29 17.37 - - - KIAA1210 0 genome.wustl.edu 37 X 118239020 118239020 + Missense_Mutation SNP C C A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b X 118239020 118239020 C A SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.1003 p.D335Y 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 137 0 0.00 37 7 15.91 - - - KIAA2022 0 genome.wustl.edu 37 X 73961157 73961157 + Missense_Mutation SNP G G T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b X 73961157 73961157 G T SNP KIAA2022 ENST00000055682 human ensembl 69_37n -1 known missense c.3235 p.L1079I 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 80 0 0.00 16 8 33.33 - - - KLF15 0 genome.wustl.edu 37 3 126062722 126062722 + Nonsense_Mutation SNP C C A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 3 126062722 126062722 C A SNP KLF15 ENST00000296233 human ensembl 69_37n -1 known nonsense c.1099 p.E367* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 28 0 0.00 34 33 49.25 - - - LAMA1 0 genome.wustl.edu 37 18 7033069 7033069 + Missense_Mutation SNP C C A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 18 7033069 7033069 C A SNP LAMA1 ENST00000389658 human ensembl 69_37n -1 known missense c.2077 p.A693S 0.996 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 174 0 0.00 102 47 31.54 - - - LEPREL1 0 genome.wustl.edu 37 3 189681772 189681772 + Missense_Mutation SNP G G C TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 3 189681772 189681772 G C SNP LEPREL1 ENST00000319332 human ensembl 69_37n -1 known missense c.2009 p.T670S 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 92 0 0.00 23 9 28.12 - - - LPHN3 0 genome.wustl.edu 37 4 62936207 62936207 + Missense_Mutation SNP C C A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 4 62936207 62936207 C A SNP LPHN3 ENST00000507625 human ensembl 69_37n +1 known missense c.4168 p.P1390T 1.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 106 0 0.00 39 14 26.42 - - - MAGEB1 0 genome.wustl.edu 37 X 30269554 30269554 + Missense_Mutation SNP C C A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b X 30269554 30269554 C A SNP MAGEB1 ENST00000378981 human ensembl 69_37n +1 known missense c.944 p.A315D 0.001 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 105 0 0.00 51 40 43.96 - - - MAGEB1 0 genome.wustl.edu 37 X 30269555 30269555 + Silent SNP C C A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b X 30269555 30269555 C A SNP MAGEB1 ENST00000378981 human ensembl 69_37n +1 known silent c.945 p.A315 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 100 0 0.00 51 40 43.96 - - - MAPRE2 0 genome.wustl.edu 37 18 32720267 32720267 + Missense_Mutation SNP C C A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 18 32720267 32720267 C A SNP MAPRE2 ENST00000300249 human ensembl 69_37n +1 known missense c.918 p.H306Q 1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain - no_errors MAPRE2 HGNC ENSG00000166974 111 0 0.00 37 9 19.57 - - - MED14 0 genome.wustl.edu 37 X 40573796 40573796 + Missense_Mutation SNP C C T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b X 40573796 40573796 C T SNP MED14 ENST00000324817 human ensembl 69_37n -1 known missense c.515 p.C172Y 1.000 pfam_Mediator_Med14 pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 128 0 0.00 57 24 29.63 - - - MLLT4 0 genome.wustl.edu 37 6 168291556 168291556 + Frame_Shift_Del DEL C C - TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 6 168291556 168291556 C - DEL MLLT4 ENST00000366806 human ensembl 69_37n +1 known frame_shift_del c.1024 p.Q342fs 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 64 0 0.00 11 2 15.38 - - - MSANTD1 0 genome.wustl.edu 37 4 3255096 3255096 + Silent SNP G G A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 4 3255096 3255096 G A SNP MSANTD1 ENST00000438480 human ensembl 69_37n +1 known silent c.483 p.S161 0.998 NULL NULL - no_errors MSANTD1 HGNC ENSG00000188981 43 0 0.00 52 15 22.39 - - - NLRP7 0 genome.wustl.edu 37 19 55451245 55451245 + Silent SNP C C T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 19 55451245 55451245 C T SNP NLRP7 ENST00000446217 human ensembl 69_37n -1 known silent c.1026 p.Q342 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 117 0 0.00 80 31 27.43 - - - NOMO2 0 genome.wustl.edu 37 16 18542797 18542797 + Missense_Mutation SNP A A C TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 16 18542797 18542797 A C SNP NOMO2 ENST00000381474 human ensembl 69_37n -1 known missense c.1528 p.S510A 1.000 NULL pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO2 HGNC ENSG00000185164 1048 0 0.00 605 221 26.72 - - - OCRL 0 genome.wustl.edu 37 X 128709149 128709149 + Missense_Mutation SNP A A T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b X 128709149 128709149 A T SNP OCRL ENST00000371113 human ensembl 69_37n +1 known missense c.1635 p.K545N 1.000 superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 481 0 0.00 201 130 39.27 - - - OFD1 0 genome.wustl.edu 37 X 13764997 13764997 + Missense_Mutation SNP A A T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b X 13764997 13764997 A T SNP OFD1 ENST00000340096 human ensembl 69_37n +1 known missense c.753 p.K251N 0.001 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 27 0 0.00 6 5 45.45 - - - OR7A17 0 genome.wustl.edu 37 19 14992035 14992035 + Missense_Mutation SNP T T C TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 19 14992035 14992035 T C SNP OR7A17 ENST00000327462 human ensembl 69_37n -1 known missense c.133 p.I45V 0.848 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7A17 HGNC ENSG00000185385 99 0 0.00 30 5 14.29 - - - OR8I2 0 genome.wustl.edu 37 11 55861593 55861593 + Silent SNP G G A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 11 55861593 55861593 G A SNP OR8I2 ENST00000302124 human ensembl 69_37n +1 known silent c.810 p.A270 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 127 0 0.00 19 4 17.39 - - - OSBPL8 0 genome.wustl.edu 37 12 76769099 76769099 + Missense_Mutation SNP G G T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 12 76769099 76769099 G T SNP OSBPL8 ENST00000261183 human ensembl 69_37n -1 known missense c.1781 p.T594K 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 191 0 0.00 30 4 11.76 - - - PCDHB12 0 genome.wustl.edu 37 5 140590645 140590645 + Silent SNP C C A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 5 140590645 140590645 C A SNP PCDHB12 ENST00000239450 human ensembl 69_37n +1 known silent c.2166 p.V722 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 47 0 0.00 48 31 39.24 - - - PCNXL2 0 genome.wustl.edu 37 1 233398910 233398911 + Splice_Site INS - - AAA TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 1 233398910 233398911 - AAA INS PCNXL2 ENST00000258229 human ensembl 69_37n -1 known splice_site_ins c.154-2_154-1 e2-1 1.000:0.996 - - - no_errors PCNXL2 HGNC ENSG00000135749 70 0 0.00 17 5 22.73 - - - PDE10A 0 genome.wustl.edu 37 6 165749696 165749696 + Missense_Mutation SNP C C A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 6 165749696 165749696 C A SNP PDE10A ENST00000539869 human ensembl 69_37n -1 known missense c.2183 p.G728V 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 143 0 0.00 78 34 30.36 - - - PLAU 0 genome.wustl.edu 37 10 75672712 75672712 + Missense_Mutation SNP G G A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 10 75672712 75672712 G A SNP PLAU ENST00000372764 human ensembl 69_37n +1 known missense c.224 p.G75D 0.998 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLAU HGNC ENSG00000122861 117 0 0.00 97 63 39.38 - - - RAB9B 0 genome.wustl.edu 37 X 103080361 103080361 + Silent SNP G G T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b X 103080361 103080361 G T SNP RAB9B ENST00000243298 human ensembl 69_37n -1 known silent c.354 p.P118 0.998 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,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,pfam_ProtSyn_GTP-bd,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 RAB9B HGNC ENSG00000123570 125 0 0.00 40 30 42.86 - - - RNF123 0 genome.wustl.edu 37 3 49758302 49758302 + Missense_Mutation SNP C C T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 3 49758302 49758302 C T SNP RNF123 ENST00000327697 human ensembl 69_37n +1 known missense c.3713 p.S1238F 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 109 0 0.00 140 32 18.60 - - - RPGR 0 genome.wustl.edu 37 X 38145246 38145247 + Frame_Shift_Ins INS - - C TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b X 38145246 38145247 - C INS RPGR ENST00000378505 human ensembl 69_37n -1 known frame_shift_ins c.3006_3005 p.G1003fs 0.930:0.939 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 115 0 0.00 47 22 31.88 - - - SCAPER 0 genome.wustl.edu 37 15 77067311 77067311 + Missense_Mutation SNP G G C TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 15 77067311 77067311 G C SNP SCAPER ENST00000324767 human ensembl 69_37n -1 known missense c.920 p.P307R 0.040 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 250 0 0.00 75 41 35.04 - - - SDR39U1 0 genome.wustl.edu 37 14 24910883 24910883 + Frame_Shift_Del DEL C C - TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 14 24910883 24910883 C - DEL SDR39U1 ENST00000399395 human ensembl 69_37n -1 known frame_shift_del c.325 p.V109fs 1.000 pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put pfam_DUF1731_C,pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put - no_errors SDR39U1 HGNC ENSG00000100445 63 0 0.00 59 25 29.41 - - - SHOX2 0 genome.wustl.edu 37 3 157823481 157823481 + Missense_Mutation SNP C C T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 3 157823481 157823481 C T SNP SHOX2 ENST00000555977 human ensembl 69_37n -1 putative missense c.43 p.A15T 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_start_codon:pseudogene:no_stop_codon SHOX2 HGNC ENSG00000168779 21 0 0.00 21 14 40.00 - - - SIAH1 0 genome.wustl.edu 37 16 48396255 48396255 + Missense_Mutation SNP T T C TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 16 48396255 48396255 T C SNP SIAH1 ENST00000356721 human ensembl 69_37n -1 known missense c.178 p.T60A 1.000 NULL pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH1 HGNC ENSG00000196470 193 1 0.51 143 38 20.99 - - - SKIL 0 genome.wustl.edu 37 3 170102343 170102343 + Missense_Mutation SNP A A G TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 3 170102343 170102343 A G SNP SKIL ENST00000259119 human ensembl 69_37n +1 known missense c.1219 p.K407E 1.000 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 157 0 0.00 101 63 38.41 - - - SLC16A12 0 genome.wustl.edu 37 10 91198597 91198597 + Silent SNP C C T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 10 91198597 91198597 C T SNP SLC16A12 ENST00000371790 human ensembl 69_37n -1 known silent c.792 p.Q264 0.001 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A12 HGNC ENSG00000152779 156 0 0.00 17 16 48.48 - - - SMG9 0 genome.wustl.edu 37 19 44254812 44254812 + Missense_Mutation SNP G G T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 19 44254812 44254812 G T SNP SMG9 ENST00000270066 human ensembl 69_37n -1 known missense c.82 p.P28T 1.000 NULL pfam_Smg8/Smg9 - no_errors SMG9 HGNC ENSG00000105771 88 0 0.00 30 73 70.87 - - - SOX14 0 genome.wustl.edu 37 3 137484051 137484051 + Missense_Mutation SNP C C T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 3 137484051 137484051 C T SNP SOX14 ENST00000306087 human ensembl 69_37n +1 known missense c.425 p.A142V 1.000 NULL pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX14 HGNC ENSG00000168875 13 0 0.00 17 6 26.09 - - - SPATA4 0 genome.wustl.edu 37 4 177113974 177113974 + Frame_Shift_Del DEL A A - TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 4 177113974 177113974 A - DEL SPATA4 ENST00000280191 human ensembl 69_37n -1 known frame_shift_del c.492 p.F164fs 0.000 pfam_DUF1042 pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors SPATA4 HGNC ENSG00000150628 37 0 0.00 25 13 34.21 - - - STAC 0 genome.wustl.edu 37 3 36547281 36547281 + Frame_Shift_Del DEL C C - TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 3 36547281 36547281 C - DEL STAC ENST00000273183 human ensembl 69_37n +1 known frame_shift_del c.875 p.L293fs 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors STAC HGNC ENSG00000144681 67 0 0.00 10 2 16.67 - - - THOC2 0 genome.wustl.edu 37 X 122755400 122755401 + Frame_Shift_Ins INS - - GG TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b X 122755400 122755401 - GG INS THOC2 ENST00000245838 human ensembl 69_37n -1 known frame_shift_ins c.3824_3823 p.K1275fs 1.000:1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 46 0 0.00 11 2 15.38 - - - THOC2 0 genome.wustl.edu 37 X 122755418 122755419 + Frame_Shift_Ins INS - - C TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b X 122755418 122755419 - C INS THOC2 ENST00000245838 human ensembl 69_37n -1 known frame_shift_ins c.3806_3805 p.N1269fs 1.000:1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 31 0 0.00 4 2 33.33 - - - TMEM8B 0 genome.wustl.edu 37 9 35853682 35853682 + Missense_Mutation SNP G G T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 9 35853682 35853682 G T SNP TMEM8B ENST00000377988 human ensembl 69_37n +1 known missense c.1264 p.G422C 1.000 NULL pfam_DUF3522 - no_errors TMEM8B HGNC ENSG00000137103 126 0 0.00 54 78 59.09 - - - TTYH1 0 genome.wustl.edu 37 19 54930398 54930398 + Missense_Mutation SNP C C A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 19 54930398 54930398 C A SNP TTYH1 ENST00000376531 human ensembl 69_37n +1 known missense c.223 p.P75T 0.776 pfam_Tweety pfam_Tweety - no_errors TTYH1 HGNC ENSG00000167614 52 0 0.00 30 16 34.78 - - - UBXN11 0 genome.wustl.edu 37 1 26608867 26608867 + Missense_Mutation SNP C C A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 1 26608867 26608867 C A SNP UBXN11 ENST00000374221 human ensembl 69_37n -1 known missense c.1486 p.G496C 0.010 NULL pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 8 0 0.00 5 6 54.55 - - - UGT1A4 0 genome.wustl.edu 37 2 234681013 234681013 + Silent SNP C C T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 2 234681013 234681013 C T SNP UGT1A4 ENST00000373409 human ensembl 69_37n +1 known silent c.1413 p.G471 0.978 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 216 0 0.00 161 145 47.23 - - - WBSCR17 0 genome.wustl.edu 37 7 71036313 71036313 + Missense_Mutation SNP T T A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 7 71036313 71036313 T A SNP WBSCR17 ENST00000333538 human ensembl 69_37n +1 known missense c.1006 p.F336I 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 463 0 0.00 189 95 33.45 - - - WISP1 0 genome.wustl.edu 37 8 134232988 134232988 + Missense_Mutation SNP C C T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 8 134232988 134232988 C T SNP WISP1 ENST00000250160 human ensembl 69_37n +1 known missense c.514 p.R172C 0.007 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 49 0 0.00 170 116 40.56 - - - WSB1 0 genome.wustl.edu 37 17 25637136 25637136 + Missense_Mutation SNP C C G TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 17 25637136 25637136 C G SNP WSB1 ENST00000262394 human ensembl 69_37n +1 known missense c.934 p.R312G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,prints_G-protein_beta_WD-40_rep,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WSB1 HGNC ENSG00000109046 374 0 0.00 336 69 17.04 - - - XDH 0 genome.wustl.edu 37 2 31605877 31605877 + Missense_Mutation SNP T T A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 2 31605877 31605877 T A SNP XDH ENST00000379416 human ensembl 69_37n -1 known missense c.1028 p.K343M 1.000 pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 72 0 0.00 50 37 42.53 - - - ZBBX 0 genome.wustl.edu 37 3 167045735 167045736 + Frame_Shift_Ins INS - - C TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 3 167045735 167045736 - C INS ZBBX ENST00000307529 human ensembl 69_37n -1 known frame_shift_ins c.857_856 p.V286fs 0.211:0.086 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 170 0 0.00 17 2 10.53 - - - ZFYVE9 0 genome.wustl.edu 37 1 52703400 52703400 + Frame_Shift_Del DEL G G - TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 1 52703400 52703400 G - DEL ZFYVE9 ENST00000287727 human ensembl 69_37n +1 known frame_shift_del c.311 p.W104fs 1.000 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 116 0 0.00 14 2 12.50 - - - ZNF276 0 genome.wustl.edu 37 16 89804566 89804566 + Missense_Mutation SNP C C T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 16 89804566 89804566 C T SNP ZNF276 ENST00000443381 human ensembl 69_37n +1 known missense c.1757 p.A586V 0.959 NULL pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF276 HGNC ENSG00000158805 48 0 0.00 30 12 28.57 - - - ZNF512 0 genome.wustl.edu 37 2 27806578 27806579 + Frame_Shift_Ins INS - - A TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 2 27806578 27806579 - A INS ZNF512 ENST00000355467 human ensembl 69_37n +1 known frame_shift_ins c.84_85 p.N29fs 0.988:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512 HGNC ENSG00000243943 424 0 0.00 288 162 36.00 - - - ZNF778 0 genome.wustl.edu 37 16 89294298 89294298 + Silent SNP A A G TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 16 89294298 89294298 A G SNP ZNF778 ENST00000433976 human ensembl 69_37n +1 known silent c.1518 p.E506 0.009 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF778 HGNC ENSG00000170100 139 0 0.00 85 72 45.57 - - - ZNF804B 0 genome.wustl.edu 37 7 88965288 88965288 + Missense_Mutation SNP C C T TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3585e133-b3c1-4d90-b5f2-2b867e0ae0ec 7826a2e6-30ae-460b-ab97-2986f1d76d4b 7 88965288 88965288 C T SNP ZNF804B ENST00000333190 human ensembl 69_37n +1 known missense c.2992 p.P998S 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 98 0 0.00 19 19 50.00 - - -