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 ABR 0 genome.wustl.edu 37 17 909373 909374 + Frame_Shift_Ins INS - - G TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 17 909373 909374 - G INS ABR ENST00000302538 human ensembl 69_37n -1 known frame_shift_ins c.2527_2526 p.I842fs 1.000:1.000 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 20 0 0.00 30 4 11.76 - - - ALDH8A1 0 genome.wustl.edu 37 6 135239594 135239594 + Missense_Mutation SNP C C T TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 6 135239594 135239594 C T SNP ALDH8A1 ENST00000265605 human ensembl 69_37n -1 known missense c.1423 p.D475N 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 116 0 0.00 156 18 10.34 - - - CCDC108 0 genome.wustl.edu 37 2 219883882 219883883 + Frame_Shift_Ins INS - - G TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 2 219883882 219883883 - G INS CCDC108 ENST00000341552 human ensembl 69_37n -1 known frame_shift_ins c.3493_3492 p.V1164fs 0.001:0.000 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC ENSG00000181378 32 0 0.00 33 4 10.81 - - - CDH1 0 genome.wustl.edu 37 16 68847278 68847279 + Frame_Shift_Ins INS - - A TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 16 68847278 68847279 - A INS CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_ins c.1200_1201 p.A400fs 0.868:0.825 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 96 0 0.00 22 83 79.05 - - - CHD3 0 genome.wustl.edu 37 17 7796758 7796758 + Missense_Mutation SNP G G C TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 17 7796758 7796758 G C SNP CHD3 ENST00000330494 human ensembl 69_37n +1 known missense c.664 p.E222Q 1.000 superfamily_HMG_superfamily pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 100 0 0.00 82 15 15.46 - - - CLSPN 0 genome.wustl.edu 37 1 36202522 36202522 + Frame_Shift_Del DEL T T - TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 1 36202522 36202522 T - DEL CLSPN ENST00000318121 human ensembl 69_37n -1 known frame_shift_del c.3902 p.K1301fs 1.000 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 100 0 0.00 53 83 59.29 - - - ELN 0 genome.wustl.edu 37 7 73457000 73457000 + Missense_Mutation SNP G G C TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 7 73457000 73457000 G C SNP ELN ENST00000358929 human ensembl 69_37n +1 known missense c.289 p.A97P 0.079 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 36 0 0.00 51 14 21.54 - - - ELN 0 genome.wustl.edu 37 7 73457001 73457001 + Missense_Mutation SNP C C T TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 7 73457001 73457001 C T SNP ELN ENST00000358929 human ensembl 69_37n +1 known missense c.290 p.A97V 0.079 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 35 0 0.00 52 14 21.21 - - - ERBB2 0 genome.wustl.edu 37 17 37880220 37880220 + Missense_Mutation SNP T T C TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 17 37880220 37880220 T C SNP ERBB2 ENST00000269571 human ensembl 69_37n +1 known missense c.2264 p.L755S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 95 0 0.00 98 100 50.51 - - - FAM169B 0 genome.wustl.edu 37 15 99023896 99023896 + Silent SNP C C A TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 15 99023896 99023896 C A SNP FAM169B ENST00000332908 human ensembl 69_37n -1 known silent c.117 p.V39 0.897 NULL NULL - no_errors FAM169B HGNC ENSG00000185087 101 0 0.00 42 75 64.10 - - - FAM47A 0 genome.wustl.edu 37 X 34149384 34149384 + Missense_Mutation SNP G G A TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea X 34149384 34149384 G A SNP FAM47A ENST00000346193 human ensembl 69_37n -1 known missense c.1012 p.R338C 0.452 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 128 0 0.00 66 21 24.14 - - - HERC2 0 genome.wustl.edu 37 15 28421867 28421867 + Silent SNP A A G TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 15 28421867 28421867 A G SNP HERC2 ENST00000261609 human ensembl 69_37n -1 known silent c.9480 p.S3160 0.333 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 189 0 0.00 85 45 34.35 - - - HERC2P4 0 genome.wustl.edu 37 16 32190861 32190861 + RNA SNP G G T TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 16 32190861 32190861 G T SNP HERC2P4 ENST00000566591 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 16 0 0.00 81 27 25.00 - - - HLA-DRB6 0 genome.wustl.edu 37 6 32522713 32522713 + RNA SNP G G C TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 6 32522713 32522713 G C SNP HLA-DRB6 ENST00000411500 human ensembl 69_37n -1 known rna NULL NULL 0.675 - - - no_errors HLA-DRB6 HGNC ENSG00000229391 16 0 0.00 14 8 36.36 - - - INPP5B 0 genome.wustl.edu 37 1 38409488 38409488 + Missense_Mutation SNP C C T TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 1 38409488 38409488 C T SNP INPP5B ENST00000373023 human ensembl 69_37n -1 known missense c.230 p.R77Q 0.648 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 79 0 0.00 57 25 30.49 - - - IPO13 0 genome.wustl.edu 37 1 44424472 44424472 + Missense_Mutation SNP C C G TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 1 44424472 44424472 C G SNP IPO13 ENST00000372343 human ensembl 69_37n +1 known missense c.1939 p.L647V 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 77 0 0.00 63 23 26.14 - - - KIAA1462 0 genome.wustl.edu 37 10 30318244 30318244 + Missense_Mutation SNP C C G TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 10 30318244 30318244 C G SNP KIAA1462 ENST00000375377 human ensembl 69_37n -1 known missense c.833 p.S278T 0.884 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 126 0 0.00 57 66 53.66 - - - LARGE 0 genome.wustl.edu 37 22 33679330 33679331 + Frame_Shift_Ins INS - - C TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 22 33679330 33679331 - C INS LARGE ENST00000354992 human ensembl 69_37n -1 known frame_shift_ins c.1735_1734 p.S578fs 1.000:1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 57 0 0.00 56 11 16.42 - - - MAST1 0 genome.wustl.edu 37 19 12984565 12984565 + Silent SNP G G A TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 19 12984565 12984565 G A SNP MAST1 ENST00000251472 human ensembl 69_37n +1 known silent c.3594 p.S1198 0.997 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 55 0 0.00 34 30 46.15 - - - MYH10 0 genome.wustl.edu 37 17 8439105 8439105 + Missense_Mutation SNP C C A TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 17 8439105 8439105 C A SNP MYH10 ENST00000396239 human ensembl 69_37n -1 known missense c.1720 p.D574Y 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 49 0 0.00 11 43 79.63 - - - MYO1D 0 genome.wustl.edu 37 17 30821847 30821847 + Missense_Mutation SNP C C T TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 17 30821847 30821847 C T SNP MYO1D ENST00000318217 human ensembl 69_37n -1 known missense c.2951 p.R984Q 0.980 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 25 0 0.00 27 4 12.90 - - - PCDHA10 0 genome.wustl.edu 37 5 140236812 140236812 + Silent SNP G G A TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 5 140236812 140236812 G A SNP PCDHA10 ENST00000307360 human ensembl 69_37n +1 known silent c.1179 p.P393 0.878 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 76 0 0.00 29 25 46.30 - - - RUNX1 0 genome.wustl.edu 37 21 36252946 36252946 + Missense_Mutation SNP T T C TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 21 36252946 36252946 T C SNP RUNX1 ENST00000300305 human ensembl 69_37n -1 known missense c.416 p.N139S 1.000 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 122 0 0.00 73 64 46.38 - - - SDHAP1 0 genome.wustl.edu 37 3 195701310 195701311 + Splice_Site INS - - AA TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 3 195701310 195701311 - AA INS SDHAP1 ENST00000354937 human ensembl 69_37n -1 known splice_site_ins c.NULL NULL 1.000:0.999 - - - no_coding_region:pseudogene SDHAP1 HGNC ENSG00000185485 75 0 0.00 127 16 11.19 - - - SMARCC1 0 genome.wustl.edu 37 3 47676719 47676719 + Silent SNP G G C TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 3 47676719 47676719 G C SNP SMARCC1 ENST00000254480 human ensembl 69_37n -1 known silent c.2607 p.A869 0.884 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 320 0 0.00 327 297 47.60 - - - SNRPN 0 genome.wustl.edu 37 15 25221514 25221514 + Missense_Mutation SNP G G T TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 15 25221514 25221514 G T SNP SNRPN ENST00000444203 human ensembl 69_37n +1 known missense c.230 p.R77L 0.945 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,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 116 1 0.85 65 73 52.90 - - - SRP14 0 genome.wustl.edu 37 15 40330494 40330496 + In_Frame_Del DEL TCT TCT - TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 15 40330494 40330496 TCT - DEL SRP14 ENST00000267884 human ensembl 69_37n -1 known in_frame_del c.199_197 p.K66in_frame_del 1.000:1.000:1.000 pfam_Signal_recog_particle_SRP14,superfamily_Signal_recog_particle_SRP9/14 pfam_Signal_recog_particle_SRP14,superfamily_Signal_recog_particle_SRP9/14,prints_Antifreeze_1 - no_errors SRP14 HGNC ENSG00000140319 80 0 0.00 28 41 59.42 - - - TRIP6 0 genome.wustl.edu 37 7 100468023 100468023 + Frame_Shift_Del DEL T T - TCGA-A8-A0AB-01A-11W-A050-09 TCGA-A8-A0AB-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad2a2f5d-dad6-4c03-b235-20810d6d34dc 5e1600e7-1950-44a9-a2d2-d32a8649d2ea 7 100468023 100468023 T - DEL TRIP6 ENST00000200457 human ensembl 69_37n +1 known frame_shift_del c.767 p.L256fs 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TRIP6 HGNC ENSG00000087077 146 0 0.00 69 23 23.71 - - -