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 ACTN1 0 genome.wustl.edu 37 14 69349765 69349767 + In_Frame_Del DEL GTC GTC - TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 GTC GTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 14 69349765 69349767 GTC - DEL ACTN1 ENST00000394419 human ensembl 69_37n -1 known in_frame_del c.1643_1641 p.T549in_frame_del 1.000:1.000:1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN1 HGNC ENSG00000072110 76 0 0.00 40 29 41.43 - - - AHNAK2 0 genome.wustl.edu 37 14 105408889 105408890 + Frame_Shift_Ins INS - - GG TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 14 105408889 105408890 - GG INS AHNAK2 ENST00000333244 human ensembl 69_37n -1 known frame_shift_ins c.12899_12898 p.M4300fs 0.885:0.839 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 125 0 0.00 57 34 37.36 - - - AHNAK2 0 genome.wustl.edu 37 14 105408895 105408895 + Frame_Shift_Del DEL A A - TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 14 105408895 105408895 A - DEL AHNAK2 ENST00000333244 human ensembl 69_37n -1 known frame_shift_del c.12893 p.F4298fs 0.080 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 124 0 0.00 57 79 58.09 - - - AHNAK2 0 genome.wustl.edu 37 14 105409384 105409385 + Frame_Shift_Ins INS - - GG TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 14 105409384 105409385 - GG INS AHNAK2 ENST00000333244 human ensembl 69_37n -1 known frame_shift_ins c.12404_12403 p.M4135fs 0.769:0.474 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 118 0 0.00 79 53 40.15 - - - AHNAK2 0 genome.wustl.edu 37 14 105409390 105409390 + Frame_Shift_Del DEL A A - TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 14 105409390 105409390 A - DEL AHNAK2 ENST00000333244 human ensembl 69_37n -1 known frame_shift_del c.12398 p.F4133fs 0.988 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 120 0 0.00 68 148 64.35 - - - AHNAK2 0 genome.wustl.edu 37 14 105409649 105409650 + Frame_Shift_Ins INS - - TT TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 14 105409649 105409650 - TT INS AHNAK2 ENST00000333244 human ensembl 69_37n -1 known frame_shift_ins c.12139_12138 p.L4046fs 0.000:0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 102 0 0.00 81 107 56.91 - - - AHNAK2 0 genome.wustl.edu 37 14 105409879 105409880 + Frame_Shift_Ins INS - - GG TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 14 105409879 105409880 - GG INS AHNAK2 ENST00000333244 human ensembl 69_37n -1 known frame_shift_ins c.11909_11908 p.M3970fs 0.180:0.170 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 133 0 0.00 42 37 46.84 - - - AHNAK2 0 genome.wustl.edu 37 14 105409885 105409885 + Frame_Shift_Del DEL A A - TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 14 105409885 105409885 A - DEL AHNAK2 ENST00000333244 human ensembl 69_37n -1 known frame_shift_del c.11903 p.F3968fs 0.873 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 133 0 0.00 47 108 69.68 - - - ANKRD34A 0 genome.wustl.edu 37 1 145473902 145473902 + Missense_Mutation SNP G G T TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 1 145473902 145473902 G T SNP ANKRD34A ENST00000323397 human ensembl 69_37n +1 known missense c.574 p.A192S 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 179 0 0.00 104 48 31.58 - - - ARL6IP6 0 genome.wustl.edu 37 2 153616311 153616311 + Missense_Mutation SNP A A C TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 2 153616311 153616311 A C SNP ARL6IP6 ENST00000326446 human ensembl 69_37n +1 known missense c.638 p.N213T 1.000 NULL NULL - no_errors ARL6IP6 HGNC ENSG00000177917 81 0 0.00 85 45 34.62 - - - BACH2 0 genome.wustl.edu 37 6 90660255 90660255 + Missense_Mutation SNP A A G TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 6 90660255 90660255 A G SNP BACH2 ENST00000257749 human ensembl 69_37n -1 known missense c.1570 p.S524P 1.000 NULL pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 100 0 0.00 56 278 83.23 - - - BACH2 0 genome.wustl.edu 37 6 90660256 90660256 + Silent SNP G G A TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 6 90660256 90660256 G A SNP BACH2 ENST00000257749 human ensembl 69_37n -1 known silent c.1569 p.C523 0.999 NULL pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 100 0 0.00 58 234 80.14 - - - BMP2 0 genome.wustl.edu 37 20 6759416 6759416 + Missense_Mutation SNP C C T TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 20 6759416 6759416 C T SNP BMP2 ENST00000378827 human ensembl 69_37n +1 known missense c.871 p.R291C 1.000 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP2 HGNC ENSG00000125845 73 0 0.00 113 63 35.80 - - - CEL 0 genome.wustl.edu 37 9 135944524 135944524 + Silent SNP C C T TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 9 135944524 135944524 C T SNP CEL ENST00000372080 human ensembl 69_37n +1 known silent c.1173 p.T391 0.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 8 0 0.00 3 3 50.00 - - - CNNM2 0 genome.wustl.edu 37 10 104835989 104835990 + Frame_Shift_Ins INS - - C TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 10 104835989 104835990 - C INS CNNM2 ENST00000457502 human ensembl 69_37n +1 known frame_shift_ins c.2383_2384 p.Y795fs 1.000:1.000 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 14 0 0.00 9 4 30.77 - - - CXCR1 0 genome.wustl.edu 37 2 219029024 219029024 + Missense_Mutation SNP A A G TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 2 219029024 219029024 A G SNP CXCR1 ENST00000295683 human ensembl 69_37n -1 known missense c.911 p.I304T 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXC/IL8_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CXCR1/IL8RA,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR1 HGNC ENSG00000163464 159 0 0.00 217 50 18.73 - - - DCAF15 0 genome.wustl.edu 37 19 14069901 14069902 + Frame_Shift_Ins INS - - GG TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 19 14069901 14069902 - GG INS DCAF15 ENST00000254337 human ensembl 69_37n +1 known frame_shift_ins c.829_830 p.P277fs 0.017:0.033 NULL NULL - no_errors DCAF15 HGNC ENSG00000132017 32 0 0.00 13 8 38.10 - - - EGR1 0 genome.wustl.edu 37 5 137803131 137803132 + Frame_Shift_Ins INS - - C TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 5 137803131 137803132 - C INS EGR1 ENST00000239938 human ensembl 69_37n +1 known frame_shift_ins c.993_994 p.H333fs 0.502:1.000 NULL pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 76 0 0.00 30 7 18.92 - - - FAM57B 0 genome.wustl.edu 37 16 30037078 30037078 + Missense_Mutation SNP G G A TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 16 30037078 30037078 G A SNP FAM57B ENST00000380495 human ensembl 69_37n -1 known missense c.509 p.P170L 1.000 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors FAM57B HGNC ENSG00000149926 48 0 0.00 45 15 25.00 - - - FAM86JP 0 genome.wustl.edu 37 3 125648080 125648080 + RNA SNP G G A TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 3 125648080 125648080 G A SNP FAM86JP ENST00000467239 human ensembl 69_37n +1 known rna NULL NULL 0.141 - - - no_errors FAM86JP HGNC ENSG00000171084 23 0 0.00 13 4 23.53 - - - FHDC1 0 genome.wustl.edu 37 4 153897341 153897342 + Frame_Shift_Ins INS - - G TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 4 153897341 153897342 - G INS FHDC1 ENST00000260008 human ensembl 69_37n +1 known frame_shift_ins c.2898_2899 p.T966fs 0.002:0.000 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC ENSG00000137460 24 0 0.00 6 4 40.00 - - - GATA6 0 genome.wustl.edu 37 18 19761419 19761419 + Silent SNP A A G TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 18 19761419 19761419 A G SNP GATA6 ENST00000269216 human ensembl 69_37n +1 known silent c.1308 p.S436 0.464 pfscan_Znf_GATA pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA6 HGNC ENSG00000141448 106 0 0.00 48 6 11.11 - - - HDAC6 0 genome.wustl.edu 37 X 48665033 48665033 + Silent SNP C C A TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 X 48665033 48665033 C A SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known silent c.594 p.A198 0.998 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 71 0 0.00 86 36 29.51 - - - IL13RA2 0 genome.wustl.edu 37 X 114242611 114242611 + Missense_Mutation SNP G G A TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 X 114242611 114242611 G A SNP IL13RA2 ENST00000243213 human ensembl 69_37n -1 known missense c.881 p.T294I 0.000 superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 173 0 0.00 227 61 21.11 - - - JAG1 0 genome.wustl.edu 37 20 10629222 10629222 + Missense_Mutation SNP G G A TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 20 10629222 10629222 G A SNP JAG1 ENST00000254958 human ensembl 69_37n -1 known missense c.1544 p.T515I 1.000 pfam_EGF-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 105 0 0.00 159 600 78.95 - - - LRRC41 0 genome.wustl.edu 37 1 46745910 46745910 + Silent SNP G G A TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 1 46745910 46745910 G A SNP LRRC41 ENST00000343304 human ensembl 69_37n -1 known silent c.1974 p.D658 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 93 0 0.00 43 16 27.12 - - - MAP3K1 0 genome.wustl.edu 37 5 56174909 56174909 + Nonsense_Mutation SNP A A T TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 5 56174909 56174909 A T SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel nonsense c.2068 p.K690* 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 210 0 0.00 210 68 24.37 - - - MAP3K1 0 genome.wustl.edu 37 5 56180503 56180504 + Frame_Shift_Del DEL AG AG - TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 5 56180503 56180504 AG - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.3832_3833 p.R1278fs 1.000:1.000 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,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 62 0 0.00 51 19 26.76 - - - MFI2 0 genome.wustl.edu 37 3 196743992 196743993 + Frame_Shift_Del DEL CC CC - TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 3 196743992 196743993 CC - DEL MFI2 ENST00000296350 human ensembl 69_37n -1 known frame_shift_del c.882_881 p.R294fs 0.930:0.933 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 - no_errors MFI2 HGNC ENSG00000163975 8 0 0.00 5 9 64.29 - - - MYH8 0 genome.wustl.edu 37 17 10304230 10304230 + Missense_Mutation SNP G G T TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 17 10304230 10304230 G T SNP MYH8 ENST00000403437 human ensembl 69_37n -1 known missense c.3301 p.Q1101K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 132 0 0.00 94 15 13.76 - - - NCAN 0 genome.wustl.edu 37 19 19337625 19337626 + Frame_Shift_Del DEL CG CG - TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 CG CG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 19 19337625 19337626 CG - DEL NCAN ENST00000252575 human ensembl 69_37n +1 known frame_shift_del c.1403_1404 p.T468fs 0.004:0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like - no_errors NCAN HGNC ENSG00000130287 19 0 0.00 4 4 50.00 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 3 178952085 178952085 A T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047L 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 146 0 0.00 185 50 21.28 - - - PIK3CG 0 genome.wustl.edu 37 7 106523570 106523570 + Missense_Mutation SNP A A T TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 7 106523570 106523570 A T SNP PIK3CG ENST00000359195 human ensembl 69_37n +1 known missense c.2722 p.N908Y 0.964 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 361 0 0.00 335 67 16.67 - - - PLEKHH1 0 genome.wustl.edu 37 14 68053849 68053850 + Frame_Shift_Ins INS - - C TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 14 68053849 68053850 - C INS PLEKHH1 ENST00000329153 human ensembl 69_37n +1 known frame_shift_ins c.3992_3993 p.T1334fs 0.000:0.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 28 0 0.00 48 6 11.11 - - - PPIB 0 genome.wustl.edu 37 15 64449058 64449058 + Missense_Mutation SNP G G A TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 15 64449058 64449058 G A SNP PPIB ENST00000300026 human ensembl 69_37n -1 known missense c.394 p.H132Y 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIB HGNC ENSG00000166794 173 0 0.00 104 26 20.00 - - - PRICKLE4 0 genome.wustl.edu 37 6 41752675 41752675 + Silent SNP G G A TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 6 41752675 41752675 G A SNP PRICKLE4 ENST00000335515 human ensembl 69_37n +1 known silent c.243 p.E81 0.987 pfam_PET_domain pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE4 HGNC ENSG00000124593 69 0 0.00 26 9 25.71 - - - PTOV1 0 genome.wustl.edu 37 19 50363394 50363395 + Frame_Shift_Ins INS - - T TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 19 50363394 50363395 - T INS PTOV1 ENST00000391842 human ensembl 69_37n +1 known frame_shift_ins c.1193_1194 p.Q398fs 1.000:1.000 pfam_Mediator_Med25 pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 54 0 0.00 13 10 43.48 - - - SLAIN1 0 genome.wustl.edu 37 13 78335020 78335020 + Missense_Mutation SNP C C T TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 13 78335020 78335020 C T SNP SLAIN1 ENST00000466548 human ensembl 69_37n +1 known missense c.1406 p.S469F 0.998 NULL NULL - no_errors SLAIN1 HGNC ENSG00000139737 235 0 0.00 146 66 31.13 - - - TTC3 0 genome.wustl.edu 37 21 38538542 38538542 + Missense_Mutation SNP G G T TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 21 38538542 38538542 G T SNP TTC3 ENST00000354749 human ensembl 69_37n +1 known missense c.4026 p.L1342F 0.955 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 257 0 0.00 156 58 27.10 - - - UBE4B 0 genome.wustl.edu 37 1 10186920 10186920 + Missense_Mutation SNP T T C TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 1 10186920 10186920 T C SNP UBE4B ENST00000470736 human ensembl 69_37n +1 novel missense c.104 p.L35S 0.999 NULL pfam_Ub_conjug_fac_E4_core - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UBE4B HGNC ENSG00000130939 150 0 0.00 131 55 29.57 - - - WDR7 0 genome.wustl.edu 37 18 54694371 54694371 + Frame_Shift_Del DEL T T - TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 18 54694371 54694371 T - DEL WDR7 ENST00000254442 human ensembl 69_37n +1 known frame_shift_del c.4406 p.I1469fs 1.000 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 41 0 0.00 25 22 46.81 - - - XIST 0 genome.wustl.edu 37 X 73045755 73045755 + RNA SNP C C A TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 X 73045755 73045755 C A SNP XIST ENST00000429829 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 169 0 0.00 206 220 51.64 - - - ZFP36L1 0 genome.wustl.edu 37 14 69257141 69257142 + Frame_Shift_Ins INS - - C TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 14 69257141 69257142 - C INS ZFP36L1 ENST00000336440 human ensembl 69_37n -1 known frame_shift_ins c.126_125 p.T43fs 0.968:1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ENSG00000185650 38 0 0.00 26 7 21.21 - - - ZNF669 0 genome.wustl.edu 37 1 247263686 247263686 + Missense_Mutation SNP C C G TCGA-AN-A03X-01A-21W-A019-09 TCGA-AN-A03X-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f177234e-e0a7-4f85-b73d-48e0080c805d 222e0fba-5b47-4ee3-b4ff-81e1a15372c1 1 247263686 247263686 C G SNP ZNF669 ENST00000343381 human ensembl 69_37n -1 known missense c.1385 p.W462S 0.001 NULL 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 ZNF669 HGNC ENSG00000188295 47 0 0.00 92 16 14.81 - - -