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 ACTB 0 genome.wustl.edu 37 7 5569207 5569207 + Silent SNP G G T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 7 5569207 5569207 G T SNP ACTB ENST00000331789 human ensembl 69_37n -1 known silent c.82 p.R28 1.000 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTB HGNC ENSG00000075624 19 0 0.00 15 6 28.57 - - - ACTB 0 genome.wustl.edu 37 7 5569207 5569207 + Silent SNP G G T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 7 5569207 5569207 G T SNP ACTB ENST00000331789 human ensembl 69_37n -1 known silent c.82 p.R28 1.000 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTB HGNC ENSG00000075624 11 0 0.00 15 6 28.57 - - - AHNAK 0 genome.wustl.edu 37 11 62297977 62297977 + Silent SNP T T C TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 11 62297977 62297977 T C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known silent c.3912 p.G1304 0.492 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 397 0 0.00 227 187 45.06 - - - AHNAK 0 genome.wustl.edu 37 11 62297977 62297977 + Silent SNP T T C TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 11 62297977 62297977 T C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known silent c.3912 p.G1304 0.492 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 279 1 0.35 227 187 45.06 - - - AKAP8L 0 genome.wustl.edu 37 19 15511970 15511970 + Silent SNP G G C TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 19 15511970 15511970 G C SNP AKAP8L ENST00000397410 human ensembl 69_37n -1 known silent c.807 p.A269 0.003 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 131 0 0.00 101 44 30.34 - - - AKAP8L 0 genome.wustl.edu 37 19 15511970 15511970 + Silent SNP G G C TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 19 15511970 15511970 G C SNP AKAP8L ENST00000397410 human ensembl 69_37n -1 known silent c.807 p.A269 0.003 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 127 0 0.00 101 44 30.34 - - - ANK1 0 genome.wustl.edu 37 8 41582042 41582042 + Missense_Mutation SNP G G A TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 8 41582042 41582042 G A SNP ANK1 ENST00000396942 human ensembl 69_37n -1 known missense c.643 p.H215Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 99 0 0.00 26 32 55.17 - - - ANK1 0 genome.wustl.edu 37 8 41582042 41582042 + Missense_Mutation SNP G G A TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 8 41582042 41582042 G A SNP ANK1 ENST00000396942 human ensembl 69_37n -1 known missense c.643 p.H215Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 100 0 0.00 26 32 55.17 - - - ANK3 0 genome.wustl.edu 37 10 61946501 61946501 + Missense_Mutation SNP C C G TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 10 61946501 61946501 C G SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known missense c.2057 p.R686T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 405 0 0.00 237 151 38.82 - - - ANK3 0 genome.wustl.edu 37 10 61946501 61946501 + Missense_Mutation SNP C C G TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 10 61946501 61946501 C G SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known missense c.2057 p.R686T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 353 0 0.00 237 151 38.82 - - - ARRB2 0 genome.wustl.edu 37 17 4621248 4621248 + Missense_Mutation SNP C C T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 17 4621248 4621248 C T SNP ARRB2 ENST00000269260 human ensembl 69_37n +1 known missense c.551 p.S184L 0.991 superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB2 HGNC ENSG00000141480 119 0 0.00 43 53 55.21 - - - ARRB2 0 genome.wustl.edu 37 17 4621248 4621248 + Missense_Mutation SNP C C T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 17 4621248 4621248 C T SNP ARRB2 ENST00000269260 human ensembl 69_37n +1 known missense c.551 p.S184L 0.991 superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB2 HGNC ENSG00000141480 120 0 0.00 43 53 55.21 - - - ATP1A1 0 genome.wustl.edu 37 1 116933404 116933404 + Missense_Mutation SNP G G A TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 1 116933404 116933404 G A SNP ATP1A1 ENST00000295598 human ensembl 69_37n +1 known missense c.1223 p.G408D 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A1 HGNC ENSG00000163399 483 1 0.21 134 204 60.36 - - - ATP1A1 0 genome.wustl.edu 37 1 116933404 116933404 + Missense_Mutation SNP G G A TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 1 116933404 116933404 G A SNP ATP1A1 ENST00000295598 human ensembl 69_37n +1 known missense c.1223 p.G408D 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A1 HGNC ENSG00000163399 490 1 0.20 134 204 60.36 - - - CROCCP2 0 genome.wustl.edu 37 1 16950820 16950820 + RNA SNP G G A TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 1 16950820 16950820 G A SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors CROCCP2 HGNC ENSG00000215908 41 0 0.00 35 15 30.00 - - - EFHA2 0 genome.wustl.edu 37 8 16961987 16961987 + Missense_Mutation SNP G G C TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 8 16961987 16961987 G C SNP EFHA2 ENST00000318063 human ensembl 69_37n +1 known missense c.1072 p.E358Q 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHA2 HGNC ENSG00000155970 117 0 0.00 18 25 56.82 - - - EFHA2 0 genome.wustl.edu 37 8 16961987 16961987 + Missense_Mutation SNP G G C TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 8 16961987 16961987 G C SNP EFHA2 ENST00000318063 human ensembl 69_37n +1 known missense c.1072 p.E358Q 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHA2 HGNC ENSG00000155970 85 0 0.00 18 25 56.82 - - - EPN1 0 genome.wustl.edu 37 19 56206663 56206663 + Silent SNP C C T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 19 56206663 56206663 C T SNP EPN1 ENST00000411543 human ensembl 69_37n +1 known silent c.1930 p.L644 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 22 0 0.00 12 9 42.86 - - - EPN1 0 genome.wustl.edu 37 19 56206663 56206663 + Silent SNP C C T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 19 56206663 56206663 C T SNP EPN1 ENST00000411543 human ensembl 69_37n +1 known silent c.1930 p.L644 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 24 0 0.00 12 9 42.86 - - - FGFBP2 0 genome.wustl.edu 37 4 15964689 15964689 + Missense_Mutation SNP G G T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 4 15964689 15964689 G T SNP FGFBP2 ENST00000259989 human ensembl 69_37n -1 known missense c.64 p.P22T 0.162 pfam_FGF1-bd pfam_FGF1-bd - no_errors FGFBP2 HGNC ENSG00000137441 59 0 0.00 35 22 38.60 - - - FLG 0 genome.wustl.edu 37 1 152278409 152278409 + Missense_Mutation SNP A A T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 1 152278409 152278409 A T SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.8953 p.S2985T 0.002 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 22 0 0.00 21 15 41.67 - - - FLG 0 genome.wustl.edu 37 1 152278409 152278409 + Missense_Mutation SNP A A T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 1 152278409 152278409 A T SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.8953 p.S2985T 0.002 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 20 0 0.00 21 15 41.67 - - - GPRIN2 0 genome.wustl.edu 37 10 46998995 46998995 + Missense_Mutation SNP C C G TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 10 46998995 46998995 C G SNP GPRIN2 ENST00000374314 human ensembl 69_37n +1 known missense c.115 p.L39V 0.989 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 12 0 0.00 16 5 23.81 - - - HAUS6 0 genome.wustl.edu 37 9 19096691 19096691 + Missense_Mutation SNP G G C TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 9 19096691 19096691 G C SNP HAUS6 ENST00000380502 human ensembl 69_37n -1 known missense c.205 p.L69V 0.991 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 270 0 0.00 122 54 30.68 - - - HAUS6 0 genome.wustl.edu 37 9 19096691 19096691 + Missense_Mutation SNP G G C TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 9 19096691 19096691 G C SNP HAUS6 ENST00000380502 human ensembl 69_37n -1 known missense c.205 p.L69V 0.991 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 210 0 0.00 122 54 30.68 - - - HLA-DRB6 0 genome.wustl.edu 37 6 32522679 32522679 + RNA SNP G G C TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 6 32522679 32522679 G C SNP HLA-DRB6 ENST00000411500 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HLA-DRB6 HGNC ENSG00000229391 25 0 0.00 18 5 21.74 - - - KANK2 0 genome.wustl.edu 37 19 11277272 11277272 + Missense_Mutation SNP C C T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 19 11277272 11277272 C T SNP KANK2 ENST00000432929 human ensembl 69_37n -1 known missense c.2542 p.D848N 0.985 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 313 0 0.00 183 71 27.95 - - - KANK2 0 genome.wustl.edu 37 19 11277272 11277272 + Missense_Mutation SNP C C T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 19 11277272 11277272 C T SNP KANK2 ENST00000432929 human ensembl 69_37n -1 known missense c.2542 p.D848N 0.985 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 250 0 0.00 183 71 27.95 - - - KIAA1210 0 genome.wustl.edu 37 X 118284280 118284280 + Missense_Mutation SNP G G A TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 X 118284280 118284280 G A SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.263 p.P88L 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 112 0 0.00 99 64 39.26 - - - KIAA1210 0 genome.wustl.edu 37 X 118284280 118284280 + Missense_Mutation SNP G G A TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 X 118284280 118284280 G A SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.263 p.P88L 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 101 0 0.00 99 64 39.26 - - - LAMB2 0 genome.wustl.edu 37 3 49159432 49159432 + Missense_Mutation SNP C C T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 3 49159432 49159432 C T SNP LAMB2 ENST00000305544 human ensembl 69_37n -1 known missense c.4868 p.G1623D 0.816 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 95 0 0.00 65 44 40.37 - - - LAMB2 0 genome.wustl.edu 37 3 49159432 49159432 + Missense_Mutation SNP C C T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 3 49159432 49159432 C T SNP LAMB2 ENST00000305544 human ensembl 69_37n -1 known missense c.4868 p.G1623D 0.816 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 102 0 0.00 65 44 40.37 - - - LMTK3 0 genome.wustl.edu 37 19 49014822 49014822 + Silent SNP G G A TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 19 49014822 49014822 G A SNP LMTK3 ENST00000270238 human ensembl 69_37n -1 known silent c.99 p.P33 0.889 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 28 0 0.00 20 25 55.56 - - - MGA 0 genome.wustl.edu 37 15 42002989 42002989 + Frame_Shift_Del DEL G G - TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 15 42002989 42002989 G - DEL MGA ENST00000219905 human ensembl 69_37n +1 known frame_shift_del c.2526 p.G843fs 1.000 NULL pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 315 1 0.32 220 98 30.63 - - - MGA 0 genome.wustl.edu 37 15 42002989 42002989 + Frame_Shift_Del DEL G G - TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 15 42002989 42002989 G - DEL MGA ENST00000219905 human ensembl 69_37n +1 known frame_shift_del c.2526 p.G843fs 1.000 NULL pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 320 1 0.31 220 98 30.63 - - - MTRR 0 genome.wustl.edu 37 5 7889262 7889262 + Missense_Mutation SNP C C G TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 5 7889262 7889262 C G SNP MTRR ENST00000264668 human ensembl 69_37n +1 known missense c.1282 p.L428V 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin,pfscan_Flavodoxin/NO_synth - no_errors MTRR HGNC ENSG00000124275 209 0 0.00 250 182 42.03 - - - MTRR 0 genome.wustl.edu 37 5 7889262 7889262 + Missense_Mutation SNP C C G TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 5 7889262 7889262 C G SNP MTRR ENST00000264668 human ensembl 69_37n +1 known missense c.1282 p.L428V 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin,pfscan_Flavodoxin/NO_synth - no_errors MTRR HGNC ENSG00000124275 203 0 0.00 250 182 42.03 - - - OR10K1 0 genome.wustl.edu 37 1 158436273 158436273 + Missense_Mutation SNP A A T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 1 158436273 158436273 A T SNP OR10K1 ENST00000289451 human ensembl 69_37n +1 known missense c.922 p.T308S 0.009 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 227 0 0.00 201 87 30.21 - - - OR10K1 0 genome.wustl.edu 37 1 158436273 158436273 + Missense_Mutation SNP A A T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 1 158436273 158436273 A T SNP OR10K1 ENST00000289451 human ensembl 69_37n +1 known missense c.922 p.T308S 0.009 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 205 0 0.00 201 87 30.21 - - - PDZD8 0 genome.wustl.edu 37 10 119078457 119078457 + Missense_Mutation SNP C C T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 10 119078457 119078457 C T SNP PDZD8 ENST00000334464 human ensembl 69_37n -1 known missense c.1024 p.E342K 1.000 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 471 0 0.00 233 99 29.73 - - - PDZD8 0 genome.wustl.edu 37 10 119078457 119078457 + Missense_Mutation SNP C C T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 10 119078457 119078457 C T SNP PDZD8 ENST00000334464 human ensembl 69_37n -1 known missense c.1024 p.E342K 1.000 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 377 1 0.26 233 99 29.73 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 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 283 0 0.00 131 96 42.29 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 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 216 0 0.00 131 96 42.29 - - - PLEKHG6 0 genome.wustl.edu 37 12 6426507 6426507 + Silent SNP C C T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 12 6426507 6426507 C T SNP PLEKHG6 ENST00000011684 human ensembl 69_37n +1 known silent c.795 p.L265 0.868 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 204 0 0.00 134 66 33.00 - - - PLEKHG6 0 genome.wustl.edu 37 12 6426507 6426507 + Silent SNP C C T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 12 6426507 6426507 C T SNP PLEKHG6 ENST00000011684 human ensembl 69_37n +1 known silent c.795 p.L265 0.868 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 179 0 0.00 134 66 33.00 - - - RGPD4 0 genome.wustl.edu 37 2 108460141 108460141 + Missense_Mutation SNP C C T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 2 108460141 108460141 C T SNP RGPD4 ENST00000354986 human ensembl 69_37n +1 known missense c.737 p.T246M 0.967 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 27 0 0.00 14 6 30.00 - - - RGS12 0 genome.wustl.edu 37 4 3432479 3432479 + Frame_Shift_Del DEL C C - TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 4 3432479 3432479 C - DEL RGS12 ENST00000344733 human ensembl 69_37n +1 known frame_shift_del c.3911 p.V1306fs 0.311 NULL pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTyr_interaction_dom,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTyr_interaction_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS12 HGNC ENSG00000159788 9 0 0.00 4 2 33.33 - - - SEZ6 0 genome.wustl.edu 37 17 27296863 27296863 + Missense_Mutation SNP G G A TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 17 27296863 27296863 G A SNP SEZ6 ENST00000540419 human ensembl 69_37n -1 known missense c.464 p.S155L 1.000 superfamily_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SEZ6 HGNC ENSG00000063015 72 0 0.00 115 32 21.62 - - - SEZ6 0 genome.wustl.edu 37 17 27296863 27296863 + Missense_Mutation SNP G G A TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 17 27296863 27296863 G A SNP SEZ6 ENST00000540419 human ensembl 69_37n -1 known missense c.464 p.S155L 1.000 superfamily_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SEZ6 HGNC ENSG00000063015 82 0 0.00 115 32 21.62 - - - SNTB2 0 genome.wustl.edu 37 16 69294160 69294160 + Silent SNP A A G TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 16 69294160 69294160 A G SNP SNTB2 ENST00000336278 human ensembl 69_37n +1 known silent c.1002 p.E334 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB2 HGNC ENSG00000168807 205 1 0.49 45 90 66.67 - - - SNTB2 0 genome.wustl.edu 37 16 69294160 69294160 + Silent SNP A A G TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 16 69294160 69294160 A G SNP SNTB2 ENST00000336278 human ensembl 69_37n +1 known silent c.1002 p.E334 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB2 HGNC ENSG00000168807 166 0 0.00 45 90 66.67 - - - SPIB 0 genome.wustl.edu 37 19 50926253 50926253 + Frame_Shift_Del DEL C C - TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 19 50926253 50926253 C - DEL SPIB ENST00000270632 human ensembl 69_37n +1 known frame_shift_del c.298 p.P100fs 0.982 NULL pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors SPIB HGNC ENSG00000142539 12 0 0.00 10 6 37.50 - - - SREBF1 0 genome.wustl.edu 37 17 17716089 17716090 + Frame_Shift_Ins INS - - AG TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 17 17716089 17716090 - AG INS SREBF1 ENST00000355815 human ensembl 69_37n -1 known frame_shift_ins c.3381_3380 p.P1128fs 1.000:1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors SREBF1 HGNC ENSG00000072310 9 0 0.00 11 4 26.67 - - - SREBF1 0 genome.wustl.edu 37 17 17716089 17716090 + Frame_Shift_Ins INS - - AG TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 17 17716089 17716090 - AG INS SREBF1 ENST00000355815 human ensembl 69_37n -1 known frame_shift_ins c.3381_3380 p.P1128fs 1.000:1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors SREBF1 HGNC ENSG00000072310 9 0 0.00 11 4 26.67 - - - SYNCRIP 0 genome.wustl.edu 37 6 86332352 86332353 + Frame_Shift_Del DEL TG TG - TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 6 86332352 86332353 TG - DEL SYNCRIP ENST00000369622 human ensembl 69_37n -1 known frame_shift_del c.856_855 p.N285fs 1.000:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 405 0 0.00 259 71 21.52 - - - SYNCRIP 0 genome.wustl.edu 37 6 86332352 86332353 + Frame_Shift_Del DEL TG TG - TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 6 86332352 86332353 TG - DEL SYNCRIP ENST00000369622 human ensembl 69_37n -1 known frame_shift_del c.856_855 p.N285fs 1.000:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 364 0 0.00 259 71 21.52 - - - TIPIN 0 genome.wustl.edu 37 15 66629421 66629421 + Missense_Mutation SNP C C G TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 15 66629421 66629421 C G SNP TIPIN ENST00000261881 human ensembl 69_37n -1 known missense c.781 p.D261H 0.003 NULL pfam_Swi3 - no_errors TIPIN HGNC ENSG00000075131 494 0 0.00 270 188 41.05 - - - TIPIN 0 genome.wustl.edu 37 15 66629421 66629421 + Missense_Mutation SNP C C G TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 15 66629421 66629421 C G SNP TIPIN ENST00000261881 human ensembl 69_37n -1 known missense c.781 p.D261H 0.003 NULL pfam_Swi3 - no_errors TIPIN HGNC ENSG00000075131 391 1 0.26 270 188 41.05 - - - TP53 0 genome.wustl.edu 37 17 7578524 7578524 + Missense_Mutation SNP G G C TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 17 7578524 7578524 G C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.406 p.Q136E 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,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 152 1 0.65 49 75 59.52 - - - TP53 0 genome.wustl.edu 37 17 7578524 7578524 + Missense_Mutation SNP G G C TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 17 7578524 7578524 G C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.406 p.Q136E 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,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 138 0 0.00 49 75 59.52 - - - TUBA3C 0 genome.wustl.edu 37 13 19751640 19751640 + Silent SNP G G A TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 13 19751640 19751640 G A SNP TUBA3C ENST00000400113 human ensembl 69_37n -1 known silent c.483 p.Y161 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 274 1 0.36 259 141 35.25 - - - TUBA3C 0 genome.wustl.edu 37 13 19751640 19751640 + Silent SNP G G A TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 13 19751640 19751640 G A SNP TUBA3C ENST00000400113 human ensembl 69_37n -1 known silent c.483 p.Y161 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 248 0 0.00 259 141 35.25 - - - ZNF540 0 genome.wustl.edu 37 19 38104051 38104051 + Missense_Mutation SNP G G A TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 1297e0da-fbf8-4566-8f22-17095e4031f4 19 38104051 38104051 G A SNP ZNF540 ENST00000316433 human ensembl 69_37n +1 known missense c.1870 p.E624K 0.000 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 ZNF540 HGNC ENSG00000171817 98 0 0.00 55 40 42.11 - - - ZNF540 0 genome.wustl.edu 37 19 38104051 38104051 + Missense_Mutation SNP G G A TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f63f0927-5186-4558-853d-4eed95ba0ac8 4bca2c1c-af66-454e-a3a0-18f0e11318c8 19 38104051 38104051 G A SNP ZNF540 ENST00000316433 human ensembl 69_37n +1 known missense c.1870 p.E624K 0.000 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 ZNF540 HGNC ENSG00000171817 73 0 0.00 55 40 42.11 - - -