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 ARID1A 0 genome.wustl.edu 37 1 27101427 27101428 + Frame_Shift_Ins INS - - TA TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 1 27101427 27101428 - TA INS ARID1A ENST00000324856 human ensembl 69_37n +1 known frame_shift_ins c.4709_4710 p.N1571fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 57 0 0.00 57 38 40.00 - - - CCDC8 0 genome.wustl.edu 37 19 46915313 46915313 + Missense_Mutation SNP G G A TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 19 46915313 46915313 G A SNP CCDC8 ENST00000307522 human ensembl 69_37n -1 known missense c.755 p.A252V 0.000 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 46 0 0.00 19 7 26.92 - - - CD300LF 0 genome.wustl.edu 37 17 72699195 72699195 + Missense_Mutation SNP G G T TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 17 72699195 72699195 G T SNP CD300LF ENST00000326165 human ensembl 69_37n -1 known missense c.425 p.T142N 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300LF HGNC ENSG00000186074 36 0 0.00 64 78 54.93 - - - CDH10 0 genome.wustl.edu 37 5 24491920 24491920 + Silent SNP G G T TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 5 24491920 24491920 G T SNP CDH10 ENST00000264463 human ensembl 69_37n -1 known silent c.1641 p.I547 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC ENSG00000040731 114 0 0.00 85 16 15.84 - - - CEP120 0 genome.wustl.edu 37 5 122724169 122724169 + Missense_Mutation SNP T T G TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 5 122724169 122724169 T G SNP CEP120 ENST00000306467 human ensembl 69_37n -1 known missense c.1387 p.I463L 0.156 NULL pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CEP120 HGNC ENSG00000168944 208 0 0.00 199 69 25.75 - - - CLEC18B 0 genome.wustl.edu 37 16 74443490 74443490 + Missense_Mutation SNP C C T TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 16 74443490 74443490 C T SNP CLEC18B ENST00000339953 human ensembl 69_37n -1 known missense c.1288 p.D430N 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EGF-like,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18B HGNC ENSG00000140839 23 0 0.00 20 5 20.00 - - - DYSF 0 genome.wustl.edu 37 2 71828631 71828631 + Silent SNP G G A TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 2 71828631 71828631 G A SNP DYSF ENST00000413539 human ensembl 69_37n +1 known silent c.3939 p.P1313 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors DYSF HGNC ENSG00000135636 43 0 0.00 54 8 12.90 - - - FCGBP 0 genome.wustl.edu 37 19 40367787 40367787 + Silent SNP G G A TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 19 40367787 40367787 G A SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known silent c.13173 p.C4391 0.961 pfam_TIL_dom,superfamily_TIL_dom,smart_EGF-like pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 24 0 0.00 15 4 21.05 - - - FLG 0 genome.wustl.edu 37 1 152283965 152283965 + Silent SNP G G T TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 1 152283965 152283965 G T SNP FLG ENST00000368799 human ensembl 69_37n -1 known silent c.3397 p.R1133 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 197 0 0.00 196 53 20.62 - - - FMN1 0 genome.wustl.edu 37 15 33256332 33256332 + Silent SNP A A G TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 15 33256332 33256332 A G SNP FMN1 ENST00000334528 human ensembl 69_37n -1 known silent c.2445 p.Y815 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin - no_errors FMN1 HGNC ENSG00000248905 218 0 0.00 98 126 56.25 - - - FOXA1 0 genome.wustl.edu 37 14 38061313 38061313 + Missense_Mutation SNP C C T TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 14 38061313 38061313 C T SNP FOXA1 ENST00000250448 human ensembl 69_37n -1 known missense c.676 p.D226N 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 15 0 0.00 6 4 40.00 - - - KCNJ12 0 genome.wustl.edu 37 17 21319943 21319943 + Missense_Mutation SNP A A G TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 17 21319943 21319943 A G SNP KCNJ12 ENST00000331718 human ensembl 69_37n +1 known missense c.1289 p.E430G 1.000 NULL pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 9 0 0.00 12 6 33.33 - - - LRP4 0 genome.wustl.edu 37 11 46917494 46917495 + Frame_Shift_Ins INS - - C TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 11 46917494 46917495 - C INS LRP4 ENST00000378623 human ensembl 69_37n -1 known frame_shift_ins c.1124_1123 p.A375fs 0.850:0.844 superfamily_Growth_fac_rcpt,smart_EGF-like pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP4 HGNC ENSG00000134569 31 0 0.00 26 3 10.34 - - - LRRK2 0 genome.wustl.edu 37 12 40745381 40745381 + Missense_Mutation SNP C C T TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 12 40745381 40745381 C T SNP LRRK2 ENST00000298910 human ensembl 69_37n +1 known missense c.6422 p.T2141M 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 61 0 0.00 23 13 36.11 - - - OR2T27 0 genome.wustl.edu 37 1 248813788 248813788 + Missense_Mutation SNP G G A TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 1 248813788 248813788 G A SNP OR2T27 ENST00000344889 human ensembl 69_37n -1 known missense c.398 p.P133L 0.022 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T27 HGNC ENSG00000187701 131 0 0.00 181 38 17.35 - - - OXGR1 0 genome.wustl.edu 37 13 97639047 97639047 + Missense_Mutation SNP C C G TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 13 97639047 97639047 C G SNP OXGR1 ENST00000298440 human ensembl 69_37n -1 known missense c.967 p.G323R 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors OXGR1 HGNC ENSG00000165621 282 0 0.00 145 49 25.26 - - - PCDHA9 0 genome.wustl.edu 37 5 140229518 140229518 + Missense_Mutation SNP C C T TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 5 140229518 140229518 C T SNP PCDHA9 ENST00000532602 human ensembl 69_37n +1 known missense c.1438 p.R480W 0.000 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 PCDHA9 HGNC ENSG00000204961 41 0 0.00 25 19 43.18 - - - PGAP1 0 genome.wustl.edu 37 2 197707464 197707464 + Missense_Mutation SNP T T A TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 2 197707464 197707464 T A SNP PGAP1 ENST00000354764 human ensembl 69_37n -1 known missense c.2611 p.T871S 0.986 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 162 0 0.00 90 19 17.43 - - - PHF12 0 genome.wustl.edu 37 17 27233908 27233909 + Frame_Shift_Ins INS - - G TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 17 27233908 27233909 - G INS PHF12 ENST00000332830 human ensembl 69_37n -1 known frame_shift_ins c.2646_2645 p.S883fs 0.990:1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 34 0 0.00 48 6 11.11 - - - RBFOX2 0 genome.wustl.edu 37 22 36142022 36142022 + Missense_Mutation SNP G G A TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 22 36142022 36142022 G A SNP RBFOX2 ENST00000438146 human ensembl 69_37n -1 known missense c.1259 p.A420V 1.000 pfam_Fox-1_C_dom,pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX2 HGNC ENSG00000100320 327 0 0.00 474 67 12.38 - - - RGS8 0 genome.wustl.edu 37 1 182616032 182616032 + Silent SNP G G C TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 1 182616032 182616032 G C SNP RGS8 ENST00000258302 human ensembl 69_37n -1 known silent c.435 p.T145 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS8 HGNC ENSG00000135824 77 0 0.00 89 57 39.04 - - - RNF168 0 genome.wustl.edu 37 3 196199408 196199408 + Missense_Mutation SNP G G C TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 3 196199408 196199408 G C SNP RNF168 ENST00000318037 human ensembl 69_37n -1 known missense c.998 p.P333R 0.003 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 123 0 0.00 104 38 26.76 - - - RXFP3 0 genome.wustl.edu 37 5 33937261 33937261 + Missense_Mutation SNP C C T TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 5 33937261 33937261 C T SNP RXFP3 ENST00000330120 human ensembl 69_37n +1 known missense c.416 p.A139V 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt - no_errors RXFP3 HGNC ENSG00000182631 21 0 0.00 16 7 30.43 - - - SACS 0 genome.wustl.edu 37 13 23910010 23910010 + Missense_Mutation SNP C C A TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 13 23910010 23910010 C A SNP SACS ENST00000382292 human ensembl 69_37n -1 known missense c.8005 p.D2669Y 1.000 superfamily_ATPase-like_ATP-bd pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 127 0 0.00 54 36 40.00 - - - SCN8A 0 genome.wustl.edu 37 12 52056740 52056740 + Missense_Mutation SNP G G T TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 12 52056740 52056740 G T SNP SCN8A ENST00000354534 human ensembl 69_37n +1 known missense c.139 p.D47Y 0.884 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 335 0 0.00 312 244 43.88 - - - SRRM2 0 genome.wustl.edu 37 16 2816906 2816906 + Missense_Mutation SNP C C T TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 16 2816906 2816906 C T SNP SRRM2 ENST00000301740 human ensembl 69_37n +1 known missense c.6377 p.P2126L 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 217 0 0.00 210 135 39.13 - - - SYNPO 0 genome.wustl.edu 37 5 150029357 150029357 + Missense_Mutation SNP G G A TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 5 150029357 150029357 G A SNP SYNPO ENST00000394243 human ensembl 69_37n +1 known missense c.2252 p.R751H 1.000 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 84 0 0.00 73 23 23.71 - - - TBP 0 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 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 32 0 0.00 33 7 17.50 - - - TRIM33 0 genome.wustl.edu 37 1 115006984 115006984 + Missense_Mutation SNP G G A TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 1 115006984 115006984 G A SNP TRIM33 ENST00000358465 human ensembl 69_37n -1 known missense c.553 p.R185C 1.000 smart_Znf_PHD,pfscan_Znf_RING pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,prints_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 116 0 0.00 87 23 20.91 - - - TTC14 0 genome.wustl.edu 37 3 180320056 180320056 + Missense_Mutation SNP C C T TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 3 180320056 180320056 C T SNP TTC14 ENST00000296015 human ensembl 69_37n +1 known missense c.7 p.R3W 1.000 NULL pfam_TPR-1,superfamily_NA-bd_OB-fold-like,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 17 0 0.00 10 8 42.11 - - - USP36 0 genome.wustl.edu 37 17 76799860 76799861 + Frame_Shift_Ins INS - - G TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 17 76799860 76799861 - G INS USP36 ENST00000312010 human ensembl 69_37n -1 known frame_shift_ins c.2417_2416 p.Q806fs 0.000:0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP36 HGNC ENSG00000055483 11 0 0.00 15 4 21.05 - - - ZNF396 0 genome.wustl.edu 37 18 32949212 32949212 + Silent SNP A A G TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 18 32949212 32949212 A G SNP ZNF396 ENST00000589332 human ensembl 69_37n -1 known silent c.975 p.H325 0.365 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF396 HGNC ENSG00000186496 93 0 0.00 75 29 27.88 - - - ZNF525 0 genome.wustl.edu 37 19 53884897 53884897 + Silent SNP C C T TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 19 53884897 53884897 C T SNP ZNF525 ENST00000355326 human ensembl 69_37n +1 known silent c.219 p.Y73 0.027 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF525 HGNC ENSG00000203326 159 0 0.00 192 85 30.47 - - - ZNF782 0 genome.wustl.edu 37 9 99580378 99580378 + Nonsense_Mutation SNP C C A TCGA-A8-A06N-01A-11W-A019-09 TCGA-A8-A06N-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 03d266a3-eb3e-4893-af6b-cb70d197d98f a29ad24e-ea1d-4640-84c8-c0cc08bfb173 9 99580378 99580378 C A SNP ZNF782 ENST00000481138 human ensembl 69_37n -1 known nonsense c.1927 p.E643* 1.000 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 ZNF782 HGNC ENSG00000196597 456 0 0.00 449 130 22.41 - - -