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 CACNA1A 0 genome.wustl.edu 37 19 13427968 13427968 + Missense_Mutation SNP T T C TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e783933d-1c24-4cd5-82b7-0d680f9c3c22 dafdbf8a-faaa-47a5-a9d3-9cabf520323e 19 13427968 13427968 T C SNP CACNA1A ENST00000360228 human ensembl 69_37n -1 known missense c.1513 p.I505V 0.996 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 34 0 0.00 29 8 21.62 - - - CASP8 0 genome.wustl.edu 37 2 202131411 202131411 + Nonsense_Mutation SNP C C T TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e783933d-1c24-4cd5-82b7-0d680f9c3c22 dafdbf8a-faaa-47a5-a9d3-9cabf520323e 2 202131411 202131411 C T SNP CASP8 ENST00000358485 human ensembl 69_37n +1 known nonsense c.379 p.R127* 0.742 pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 36 0 0.00 33 5 13.16 - - - CDYL2 0 genome.wustl.edu 37 16 80646646 80646646 + Silent SNP C C A TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e783933d-1c24-4cd5-82b7-0d680f9c3c22 dafdbf8a-faaa-47a5-a9d3-9cabf520323e 16 80646646 80646646 C A SNP CDYL2 ENST00000299564 human ensembl 69_37n -1 known silent c.1095 p.L365 1.000 pfam_Crotonase_core pfam_Crotonase_core,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 45 0 0.00 13 8 38.10 - - - CYFIP1 0 genome.wustl.edu 37 15 22928474 22928474 + Silent SNP T T A TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e783933d-1c24-4cd5-82b7-0d680f9c3c22 dafdbf8a-faaa-47a5-a9d3-9cabf520323e 15 22928474 22928474 T A SNP CYFIP1 ENST00000313077 human ensembl 69_37n +1 known silent c.351 p.P117 0.920 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 43 0 0.00 36 8 18.18 - - - CYTIP 0 genome.wustl.edu 37 2 158272428 158272428 + Missense_Mutation SNP C C T TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e783933d-1c24-4cd5-82b7-0d680f9c3c22 dafdbf8a-faaa-47a5-a9d3-9cabf520323e 2 158272428 158272428 C T SNP CYTIP ENST00000264192 human ensembl 69_37n -1 known missense c.841 p.D281N 0.997 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors CYTIP HGNC ENSG00000115165 46 0 0.00 25 8 24.24 - - - DST 0 genome.wustl.edu 37 6 56458463 56458464 + Frame_Shift_Ins INS - - A TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e783933d-1c24-4cd5-82b7-0d680f9c3c22 dafdbf8a-faaa-47a5-a9d3-9cabf520323e 6 56458463 56458464 - A INS DST ENST00000370754 human ensembl 69_37n -1 known frame_shift_ins c.12631_12630 p.K4210fs 0.998:0.649 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 38 0 0.00 21 15 41.67 - - - FBXL2 0 genome.wustl.edu 37 3 33406169 33406169 + Missense_Mutation SNP T T G TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e783933d-1c24-4cd5-82b7-0d680f9c3c22 dafdbf8a-faaa-47a5-a9d3-9cabf520323e 3 33406169 33406169 T G SNP FBXL2 ENST00000484457 human ensembl 69_37n +1 known missense c.248 p.L83R 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL2 HGNC ENSG00000153558 78 0 0.00 33 9 21.43 - - - FMN2 0 genome.wustl.edu 37 1 240371075 240371075 + Missense_Mutation SNP C C T TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e783933d-1c24-4cd5-82b7-0d680f9c3c22 dafdbf8a-faaa-47a5-a9d3-9cabf520323e 1 240371075 240371075 C T SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known missense c.2963 p.P988L 0.466 pfam_Formin_homology_1,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 12 0 0.00 19 8 29.63 - - - GATA3 0 genome.wustl.edu 37 10 8115725 8115728 + Frame_Shift_Del DEL GAAG GAAG - TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 GAAG GAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e783933d-1c24-4cd5-82b7-0d680f9c3c22 dafdbf8a-faaa-47a5-a9d3-9cabf520323e 10 8115725 8115728 GAAG - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_del c.1074_1077 p.E360fs 1.000:1.000:1.000:1.000 smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 35 0 0.00 13 6 31.58 - - - NPHP4 0 genome.wustl.edu 37 1 5967185 5967185 + Missense_Mutation SNP G G A TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e783933d-1c24-4cd5-82b7-0d680f9c3c22 dafdbf8a-faaa-47a5-a9d3-9cabf520323e 1 5967185 5967185 G A SNP NPHP4 ENST00000378156 human ensembl 69_37n -1 known missense c.1601 p.P534L 0.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 23 0 0.00 14 7 33.33 - - - PKD2L2 0 genome.wustl.edu 37 5 137226171 137226171 + Silent SNP G G A TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e783933d-1c24-4cd5-82b7-0d680f9c3c22 dafdbf8a-faaa-47a5-a9d3-9cabf520323e 5 137226171 137226171 G A SNP PKD2L2 ENST00000508883 human ensembl 69_37n +1 known silent c.33 p.G11 0.132 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC ENSG00000078795 52 0 0.00 50 19 27.54 - - - SIGLEC8 0 genome.wustl.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e783933d-1c24-4cd5-82b7-0d680f9c3c22 dafdbf8a-faaa-47a5-a9d3-9cabf520323e 19 51961617 51961619 GCA - DEL SIGLEC8 ENST00000321424 human ensembl 69_37n -1 known in_frame_del c.25_23 p.L8in_frame_del 0.633:0.759:0.808 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC8 HGNC ENSG00000105366 21 0 0.00 25 3 10.34 - - - SRPR 0 genome.wustl.edu 37 11 126136761 126136761 + Missense_Mutation SNP G G A TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e783933d-1c24-4cd5-82b7-0d680f9c3c22 dafdbf8a-faaa-47a5-a9d3-9cabf520323e 11 126136761 126136761 G A SNP SRPR ENST00000332118 human ensembl 69_37n -1 known missense c.583 p.P195S 0.909 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase - no_errors SRPR HGNC ENSG00000182934 60 0 0.00 37 12 24.49 - - - TBC1D19 0 genome.wustl.edu 37 4 26622298 26622298 + Missense_Mutation SNP G G A TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e783933d-1c24-4cd5-82b7-0d680f9c3c22 dafdbf8a-faaa-47a5-a9d3-9cabf520323e 4 26622298 26622298 G A SNP TBC1D19 ENST00000264866 human ensembl 69_37n +1 known missense c.282 p.M94I 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D19 HGNC ENSG00000109680 71 0 0.00 60 17 22.08 - - - VSTM2B 0 genome.wustl.edu 37 19 30054758 30054758 + Missense_Mutation SNP G G A TCGA-EW-A1P3-01A-11D-A142-09 TCGA-EW-A1P3-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e783933d-1c24-4cd5-82b7-0d680f9c3c22 dafdbf8a-faaa-47a5-a9d3-9cabf520323e 19 30054758 30054758 G A SNP VSTM2B ENST00000335523 human ensembl 69_37n +1 known missense c.775 p.G259S 0.948 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors VSTM2B HGNC ENSG00000187135 82 0 0.00 79 35 30.70 - - -