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 AARS2 0 genome.wustl.edu 37 6 44278884 44278884 + Missense_Mutation SNP C C T TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 6 44278884 44278884 C T SNP AARS2 ENST00000244571 human ensembl 69_37n -1 known missense c.596 p.R199H 0.908 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc - no_errors AARS2 HGNC ENSG00000124608 24 0 0.00 21 28 57.14 - - - ABCA4 0 genome.wustl.edu 37 1 94466444 94466444 + Missense_Mutation SNP T T A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 1 94466444 94466444 T A SNP ABCA4 ENST00000370225 human ensembl 69_37n -1 known missense c.6427 p.M2143L 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 85 0 0.00 65 67 50.76 - - - ABCB4 0 genome.wustl.edu 37 7 87074281 87074282 + Frame_Shift_Ins INS - - A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 7 87074281 87074282 - A INS ABCB4 ENST00000265723 human ensembl 69_37n -1 known frame_shift_ins c.1016_1015 p.S339fs 1.000:1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ENSG00000005471 47 0 0.00 40 15 27.27 - - - ACVR1B 0 genome.wustl.edu 37 12 52379131 52379131 + Nonsense_Mutation SNP C C T TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 12 52379131 52379131 C T SNP ACVR1B ENST00000257963 human ensembl 69_37n +1 known nonsense c.1135 p.R379* 1.000 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1B HGNC ENSG00000135503 63 0 0.00 51 38 42.70 - - - AFF2 0 genome.wustl.edu 37 X 148037946 148037946 + Missense_Mutation SNP C C G TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 X 148037946 148037946 C G SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known missense c.2371 p.P791A 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 183 0 0.00 73 48 39.67 - - - ALG10B 0 genome.wustl.edu 37 12 38714401 38714401 + Missense_Mutation SNP G G A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 12 38714401 38714401 G A SNP ALG10B ENST00000308742 human ensembl 69_37n +1 known missense c.808 p.V270I 0.010 pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10 pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10 - no_errors ALG10B HGNC ENSG00000175548 139 0 0.00 180 60 24.90 - - - ANKRD18B 0 genome.wustl.edu 37 9 33541181 33541182 + Frame_Shift_Ins INS - - A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 9 33541181 33541182 - A INS ANKRD18B ENST00000290943 human ensembl 69_37n +1 known frame_shift_ins c.845_846 p.R285fs 0.070:0.073 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18B HGNC ENSG00000230453 11 0 0.00 27 12 30.77 - - - AOAH 0 genome.wustl.edu 37 7 36698846 36698846 + Silent SNP A A G TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 7 36698846 36698846 A G SNP AOAH ENST00000258749 human ensembl 69_37n -1 known silent c.315 p.D105 1.000 pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 246 0 0.00 278 148 34.74 - - - BRWD1 0 genome.wustl.edu 37 21 40559077 40559078 + Frame_Shift_Ins INS - - T TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 21 40559077 40559078 - T INS BRWD1 ENST00000333229 human ensembl 69_37n -1 known frame_shift_ins c.6838_6837 p.L2279fs 0.662:0.249 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BRWD1 HGNC ENSG00000185658 55 0 0.00 25 12 32.43 - - - C14orf37 0 genome.wustl.edu 37 14 58598350 58598350 + Missense_Mutation SNP G G A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 14 58598350 58598350 G A SNP C14orf37 ENST00000267485 human ensembl 69_37n -1 known missense c.1711 p.P571S 0.000 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 51 0 0.00 19 71 78.02 - - - CAMK2D 0 genome.wustl.edu 37 4 114434519 114434519 + Missense_Mutation SNP A A G TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 4 114434519 114434519 A G SNP CAMK2D ENST00000454265 human ensembl 69_37n -1 known missense c.911 p.I304T 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2D HGNC ENSG00000145349 77 0 0.00 86 29 25.22 - - - CHEK2P2 0 genome.wustl.edu 37 15 20496657 20496657 + RNA SNP C C T TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 15 20496657 20496657 C T SNP CHEK2P2 ENST00000555186 human ensembl 69_37n +1 known rna NULL NULL 0.921 - - - no_errors CHEK2P2 HGNC ENSG00000259156 15 0 0.00 15 8 34.78 - - - COL14A1 0 genome.wustl.edu 37 8 121222032 121222032 + Missense_Mutation SNP C C T TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 8 121222032 121222032 C T SNP COL14A1 ENST00000523142 human ensembl 69_37n +1 putative missense c.628 p.R210C 0.956 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A - no_start_codon:pseudogene:no_stop_codon COL14A1 HGNC ENSG00000187955 49 0 0.00 62 57 47.90 - - - DNAAF3 0 genome.wustl.edu 37 19 55672058 55672059 + Frame_Shift_Ins INS - - C TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 19 55672058 55672059 - C INS DNAAF3 ENST00000527223 human ensembl 69_37n -1 known frame_shift_ins c.1202_1201 p.D401fs 0.001:0.002 NULL NULL - no_errors DNAAF3 HGNC ENSG00000167646 16 0 0.00 14 3 17.65 - - - DNHD1 0 genome.wustl.edu 37 11 6579764 6579764 + Missense_Mutation SNP G G A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 11 6579764 6579764 G A SNP DNHD1 ENST00000254579 human ensembl 69_37n +1 known missense c.9052 p.D3018N 0.697 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 60 0 0.00 56 22 28.21 - - - FAM59B 0 genome.wustl.edu 37 2 26405961 26405961 + Missense_Mutation SNP G G A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 2 26405961 26405961 G A SNP FAM59B ENST00000401533 human ensembl 69_37n +1 known missense c.379 p.V127I 1.000 NULL superfamily_SAM/pointed - no_errors FAM59B HGNC ENSG00000157833 37 0 0.00 20 11 35.48 - - - FGF23 0 genome.wustl.edu 37 12 4479739 4479739 + Silent SNP G G T TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 12 4479739 4479739 G T SNP FGF23 ENST00000237837 human ensembl 69_37n -1 known silent c.526 p.R176 0.901 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF23 HGNC ENSG00000118972 29 0 0.00 13 18 58.06 - - - GPR39 0 genome.wustl.edu 37 2 133175158 133175158 + Silent SNP G G T TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 2 133175158 133175158 G T SNP GPR39 ENST00000329321 human ensembl 69_37n +1 known silent c.543 p.V181 0.184 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 53 0 0.00 26 24 48.00 - - - GRM3 0 genome.wustl.edu 37 7 86415634 86415634 + Missense_Mutation SNP G G A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 7 86415634 86415634 G A SNP GRM3 ENST00000361669 human ensembl 69_37n +1 known missense c.526 p.A176T 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C - no_errors GRM3 HGNC ENSG00000198822 82 0 0.00 77 44 36.36 - - - HLA-DRB1 0 genome.wustl.edu 37 6 32549525 32549525 + Missense_Mutation SNP C C G TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 6 32549525 32549525 C G SNP HLA-DRB1 ENST00000360004 human ensembl 69_37n -1 known missense c.461 p.G154A 0.607 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB1 HGNC ENSG00000196126 21 0 0.00 152 26 14.61 - - - HLA-DRB1 0 genome.wustl.edu 37 6 32549531 32549531 + Missense_Mutation SNP T T C TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 6 32549531 32549531 T C SNP HLA-DRB1 ENST00000360004 human ensembl 69_37n -1 known missense c.455 p.Y152C 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB1 HGNC ENSG00000196126 24 0 0.00 162 27 14.29 - - - LAMA2 0 genome.wustl.edu 37 6 129785500 129785500 + Missense_Mutation SNP G G A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 6 129785500 129785500 G A SNP LAMA2 ENST00000421865 human ensembl 69_37n +1 known missense c.7058 p.R2353H 1.000 superfamily_ConA-like_lec_gl,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,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 LAMA2 HGNC ENSG00000196569 98 0 0.00 186 57 23.46 - - - NID1 0 genome.wustl.edu 37 1 236205579 236205579 + Missense_Mutation SNP C C T TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 1 236205579 236205579 C T SNP NID1 ENST00000264187 human ensembl 69_37n -1 known missense c.766 p.G256R 0.989 pfam_Nidogen_extracell_dom,smart_Nidogen_extracell_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 13 0 0.00 75 22 22.68 - - - NKX2-5 0 genome.wustl.edu 37 5 172659707 172659708 + Frame_Shift_Ins INS - - G TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 5 172659707 172659708 - G INS NKX2-5 ENST00000329198 human ensembl 69_37n -1 known frame_shift_ins c.840_839 p.A281fs 0.138:0.398 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors NKX2-5 HGNC ENSG00000183072 9 0 0.00 6 4 40.00 - - - NTSR2 0 genome.wustl.edu 37 2 11802135 11802135 + Missense_Mutation SNP C C T TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 2 11802135 11802135 C T SNP NTSR2 ENST00000306928 human ensembl 69_37n -1 known missense c.856 p.V286M 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_NT2_rcpt,prints_NT_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors NTSR2 HGNC ENSG00000169006 15 0 0.00 16 6 27.27 - - - NUP153 0 genome.wustl.edu 37 6 17629273 17629273 + Missense_Mutation SNP T T A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 6 17629273 17629273 T A SNP NUP153 ENST00000537253 human ensembl 69_37n -1 known missense c.3250 p.I1084L 0.000 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 107 0 0.00 98 17 14.78 - - - PGD 0 genome.wustl.edu 37 1 10477067 10477067 + Missense_Mutation SNP T T G TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 1 10477067 10477067 T G SNP PGD ENST00000270776 human ensembl 69_37n +1 known missense c.868 p.L290V 1.000 pfam_6PGDH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox - no_errors PGD HGNC ENSG00000142657 104 0 0.00 102 34 25.00 - - - PHACTR1 0 genome.wustl.edu 37 6 13287303 13287303 + Missense_Mutation SNP G G T TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 6 13287303 13287303 G T SNP PHACTR1 ENST00000379335 human ensembl 69_37n +1 known missense c.428 p.R143L 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC ENSG00000112137 187 0 0.00 168 53 23.98 - - - PHLDA1 0 genome.wustl.edu 37 12 76424820 76424820 + Missense_Mutation SNP G G T TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 12 76424820 76424820 G T SNP PHLDA1 ENST00000266671 human ensembl 69_37n -1 known missense c.702 p.F234L 1.000 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors PHLDA1 HGNC ENSG00000139289 87 0 0.00 23 38 62.30 - - - PKD1L2 0 genome.wustl.edu 37 16 81242149 81242150 + Frame_Shift_Del DEL TT TT - TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 16 81242149 81242150 TT - DEL PKD1L2 ENST00000337114 human ensembl 69_37n -1 known frame_shift_del c.707_706 p.N236fs 0.998:0.999 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like - no_errors PKD1L2 HGNC ENSG00000166473 15 0 0.00 23 25 48.08 - - - PNKP 0 genome.wustl.edu 37 19 50370371 50370372 + Frame_Shift_Del DEL GG GG - TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 19 50370371 50370372 GG - DEL PNKP ENST00000322344 human ensembl 69_37n -1 known frame_shift_del c.91_90 p.L31fs 0.141:0.055 superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC ENSG00000039650 11 0 0.00 8 22 70.97 - - - RFPL1-AS1 0 genome.wustl.edu 37 22 29835418 29835418 + RNA SNP C C A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 22 29835418 29835418 C A SNP RFPL1-AS1 ENST00000461286 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RFPL1-AS1 HGNC ENSG00000225465 9 0 0.00 1 12 92.31 - - - SNRPN 0 genome.wustl.edu 37 15 25222051 25222051 + Nonsense_Mutation SNP G G T TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 15 25222051 25222051 G T SNP SNRPN ENST00000444203 human ensembl 69_37n +1 known nonsense c.307 p.G103* 1.000 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 72 0 0.00 66 30 31.25 - - - SUPT5H 0 genome.wustl.edu 37 19 39955678 39955678 + Missense_Mutation SNP G G A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 19 39955678 39955678 G A SNP SUPT5H ENST00000359191 human ensembl 69_37n +1 known missense c.865 p.D289N 1.000 smart_KOW,pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 27 0 0.00 27 8 22.86 - - - TGFBR2 0 genome.wustl.edu 37 3 30732950 30732950 + Nonsense_Mutation SNP G G A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 3 30732950 30732950 G A SNP TGFBR2 ENST00000359013 human ensembl 69_37n +1 known nonsense c.1638 p.W546* 1.000 pirsf_Transform_growth_fac-b_typ-2,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,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC ENSG00000163513 99 0 0.00 55 88 61.54 - - - TOR1AIP1 0 genome.wustl.edu 37 1 179870511 179870511 + Missense_Mutation SNP G G T TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 1 179870511 179870511 G T SNP TOR1AIP1 ENST00000435319 human ensembl 69_37n +1 known missense c.727 p.D243Y 0.068 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP1 HGNC ENSG00000143337 49 0 0.00 63 15 19.23 - - - TP53 0 genome.wustl.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 17 7574003 7574003 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.1024 p.R342* 0.307 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 37 0 0.00 19 41 68.33 - - - USP5 0 genome.wustl.edu 37 12 6964674 6964674 + Missense_Mutation SNP G G A TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 12 6964674 6964674 G A SNP USP5 ENST00000229268 human ensembl 69_37n +1 known missense c.221 p.R74Q 0.995 pirsf_Ubiquitinyl_hydrolase pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP5 HGNC ENSG00000111667 19 0 0.00 25 8 23.53 - - - USP9X 0 genome.wustl.edu 37 X 41076559 41076559 + Missense_Mutation SNP C C G TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 X 41076559 41076559 C G SNP USP9X ENST00000324545 human ensembl 69_37n +1 known missense c.6172 p.H2058D 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 117 0 0.00 34 22 39.29 - - - VWA5B2 0 genome.wustl.edu 37 3 183952089 183952090 + Frame_Shift_Ins INS - - C TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 3 183952089 183952090 - C INS VWA5B2 ENST00000426955 human ensembl 69_37n +1 known frame_shift_ins c.724_725 p.H245fs 1.000:1.000 NULL NULL - no_errors VWA5B2 HGNC ENSG00000145198 25 0 0.00 23 3 11.54 - - - ZNF705E 0 genome.wustl.edu 37 11 71527792 71527792 + RNA SNP T T C TCGA-AN-A0G0-01A-11W-A050-09 TCGA-AN-A0G0-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9eb55dd2-a956-4dfe-8631-04722c49819f eb7cc6da-9544-4308-8627-1b4015493c58 11 71527792 71527792 T C SNP ZNF705E ENST00000525199 human ensembl 69_37n -1 known rna NULL NULL 0.761 - - - no_errors ZNF705E HGNC ENSG00000214534 12 0 0.00 25 37 59.68 - - -