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 ACOT2 0 genome.wustl.edu 37 14 74042189 74042189 + Missense_Mutation SNP A A G TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 14 74042189 74042189 A G SNP ACOT2 ENST00000238651 human ensembl 69_37n +1 known missense c.1424 p.H475R 0.000 pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT2 HGNC ENSG00000119673 12 0 0.00 18 10 35.71 - - - ANKRD30BL 0 genome.wustl.edu 37 2 133015454 133015454 + RNA SNP C C T TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 2 133015454 133015454 C T SNP ANKRD30BL ENST00000470729 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors ANKRD30BL HGNC ENSG00000163046 25 0 0.00 28 6 17.14 - - - C11orf9 0 genome.wustl.edu 37 11 61543803 61543804 + Frame_Shift_Ins INS - - C TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 11 61543803 61543804 - C INS C11orf9 ENST00000278836 human ensembl 69_37n +1 known frame_shift_ins c.1398_1399 p.E468fs 1.000:1.000 pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors C11orf9 HGNC ENSG00000124920 30 0 0.00 25 3 10.71 - - - CBFB 0 genome.wustl.edu 37 16 67100696 67100696 + Missense_Mutation SNP G G A TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 16 67100696 67100696 G A SNP CBFB ENST00000290858 human ensembl 69_37n +1 known missense c.394 p.A132T 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 111 0 0.00 61 56 47.86 - - - CFHR3 0 genome.wustl.edu 37 1 196759282 196759282 + Missense_Mutation SNP C C T TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 1 196759282 196759282 C T SNP CFHR3 ENST00000367425 human ensembl 69_37n +1 known missense c.721 p.P241S 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 155 1 0.64 136 16 10.53 - - - CROCCP2 0 genome.wustl.edu 37 1 16950470 16950470 + RNA SNP C C T TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 1 16950470 16950470 C T SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.996 - - - no_errors CROCCP2 HGNC ENSG00000215908 30 0 0.00 37 7 15.91 - - - DEAF1 0 genome.wustl.edu 37 11 687941 687941 + Missense_Mutation SNP C C A TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 11 687941 687941 C A SNP DEAF1 ENST00000382409 human ensembl 69_37n -1 known missense c.634 p.G212C 1.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom - no_errors DEAF1 HGNC ENSG00000177030 33 0 0.00 64 14 17.95 - - - DPP10 0 genome.wustl.edu 37 2 116497433 116497433 + Silent SNP G G A TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 2 116497433 116497433 G A SNP DPP10 ENST00000393147 human ensembl 69_37n +1 known silent c.828 p.A276 0.002 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 81 0 0.00 162 26 13.54 - - - ELP2 0 genome.wustl.edu 37 18 33722826 33722826 + Silent SNP C C T TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 18 33722826 33722826 C T SNP ELP2 ENST00000358232 human ensembl 69_37n +1 known silent c.693 p.C231 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 151 0 0.00 171 21 10.94 - - - ENPEP 0 genome.wustl.edu 37 4 111397624 111397624 + Frame_Shift_Del DEL T T - TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 4 111397624 111397624 T - DEL ENPEP ENST00000265162 human ensembl 69_37n +1 known frame_shift_del c.54 p.H18fs 0.756 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 195 0 0.00 217 104 31.23 - - - GJA1 0 genome.wustl.edu 37 6 121768373 121768373 + Missense_Mutation SNP T T G TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 6 121768373 121768373 T G SNP GJA1 ENST00000282561 human ensembl 69_37n +1 known missense c.380 p.L127W 0.999 NULL pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 109 0 0.00 67 70 51.09 - - - GPR97 0 genome.wustl.edu 37 16 57719640 57719640 + Missense_Mutation SNP G G A TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 16 57719640 57719640 G A SNP GPR97 ENST00000333493 human ensembl 69_37n +1 known missense c.1342 p.V448M 0.517 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR97 HGNC ENSG00000182885 187 0 0.00 119 99 45.41 - - - GPS2 0 genome.wustl.edu 37 17 7217829 7217830 + In_Frame_Ins INS - - ATT TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 17 7217829 7217830 - ATT INS GPS2 ENST00000380728 human ensembl 69_37n -1 known in_frame_ins c.182_181 p.SLEE61in_frame_ins* 0.999:1.000 NULL NULL - no_errors GPS2 HGNC ENSG00000132522 246 0 0.00 162 90 35.71 - - - HIST2H2BE 0 genome.wustl.edu 37 1 149857851 149857851 + Missense_Mutation SNP C C T TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 1 149857851 149857851 C T SNP HIST2H2BE ENST00000369155 human ensembl 69_37n -1 known missense c.340 p.E114K 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BE HGNC ENSG00000184678 65 0 0.00 81 33 28.95 - - - KLRG2 0 genome.wustl.edu 37 7 139138950 139138950 + Missense_Mutation SNP C C G TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 7 139138950 139138950 C G SNP KLRG2 ENST00000340940 human ensembl 69_37n -1 known missense c.1016 p.G339A 0.776 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRG2 HGNC ENSG00000188883 8 0 0.00 22 6 21.43 - - - MACF1 0 genome.wustl.edu 37 1 39853143 39853144 + Frame_Shift_Del DEL TT TT - TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 1 39853143 39853144 TT - DEL MACF1 ENST00000317713 human ensembl 69_37n +1 known frame_shift_del c.8443_8444 p.L2815fs 0.984:1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 58 0 0.00 105 136 55.28 - - - MDC1 0 genome.wustl.edu 37 6 30673105 30673105 + Silent SNP C C G TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 6 30673105 30673105 C G SNP MDC1 ENST00000376406 human ensembl 69_37n -1 known silent c.3855 p.V1285 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 62 0 0.00 169 36 17.56 - - - MGA 0 genome.wustl.edu 37 15 42041007 42041007 + Nonsense_Mutation SNP A A T TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 15 42041007 42041007 A T SNP MGA ENST00000564190 human ensembl 69_37n +1 novel nonsense c.1327 p.K443* 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MGA HGNC ENSG00000174197 76 0 0.00 124 35 22.01 - - - MR1 0 genome.wustl.edu 37 1 181021547 181021547 + Nonsense_Mutation SNP C C T TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 1 181021547 181021547 C T SNP MR1 ENST00000367580 human ensembl 69_37n +1 known nonsense c.781 p.Q261* 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,prints_MHC_I_a_a1/a2,pfscan_Ig-like - no_errors MR1 HGNC ENSG00000153029 43 0 0.00 63 16 20.25 - - - MYH13 0 genome.wustl.edu 37 17 10236473 10236473 + Missense_Mutation SNP G G A TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 17 10236473 10236473 G A SNP MYH13 ENST00000252172 human ensembl 69_37n -1 known missense c.2092 p.R698C 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH13 HGNC ENSG00000006788 126 0 0.00 39 27 40.91 - - - PDE3A 0 genome.wustl.edu 37 12 20782980 20782980 + Missense_Mutation SNP G G A TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 12 20782980 20782980 G A SNP PDE3A ENST00000359062 human ensembl 69_37n +1 known missense c.1679 p.G560D 0.013 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 108 0 0.00 137 31 18.34 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 93 0 0.00 101 42 29.37 - - - PLA2G12B 0 genome.wustl.edu 37 10 74714297 74714297 + Silent SNP G G A TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 10 74714297 74714297 G A SNP PLA2G12B ENST00000373032 human ensembl 69_37n -1 known silent c.147 p.Y49 1.000 pfam_PLipase_A2_secretory_G12 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2 - no_errors PLA2G12B HGNC ENSG00000138308 64 0 0.00 60 19 24.05 - - - PNLIPRP3 0 genome.wustl.edu 37 10 118202578 118202578 + Silent SNP G G A TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 10 118202578 118202578 G A SNP PNLIPRP3 ENST00000369230 human ensembl 69_37n +1 known silent c.216 p.A72 0.419 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 74 0 0.00 61 26 29.55 - - - RAD51AP1 0 genome.wustl.edu 37 12 4662226 4662226 + Missense_Mutation SNP G G T TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 12 4662226 4662226 G T SNP RAD51AP1 ENST00000228843 human ensembl 69_37n +1 known missense c.685 p.V229F 0.993 NULL NULL - no_errors RAD51AP1 HGNC ENSG00000111247 224 0 0.00 207 91 30.54 - - - RHOQ 0 genome.wustl.edu 37 2 46770905 46770906 + Frame_Shift_Ins INS - - G TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 2 46770905 46770906 - G INS RHOQ ENST00000238738 human ensembl 69_37n +1 known frame_shift_ins c.155_156 p.K55fs 1.000:0.949 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOQ HGNC ENSG00000119729 42 0 0.00 19 4 17.39 - - - SAPCD2 0 genome.wustl.edu 37 9 139959191 139959192 + Frame_Shift_Del DEL AC AC - TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 9 139959191 139959192 AC - DEL SAPCD2 ENST00000409687 human ensembl 69_37n -1 known frame_shift_del c.1105_1104 p.K368fs 0.982:0.988 NULL NULL - no_errors SAPCD2 HGNC ENSG00000186193 26 0 0.00 10 12 54.55 - - - SH3D19 0 genome.wustl.edu 37 4 152086824 152086824 + Missense_Mutation SNP G G A TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 4 152086824 152086824 G A SNP SH3D19 ENST00000304527 human ensembl 69_37n -1 known missense c.719 p.T240I 0.990 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 513 0 0.00 751 86 10.27 - - - SLC25A30 0 genome.wustl.edu 37 13 45971426 45971426 + Silent SNP T T A TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 13 45971426 45971426 T A SNP SLC25A30 ENST00000519676 human ensembl 69_37n -1 known silent c.801 p.P267 0.969 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors SLC25A30 HGNC ENSG00000174032 64 0 0.00 98 18 15.52 - - - SRBD1 0 genome.wustl.edu 37 2 45704138 45704138 + Missense_Mutation SNP C C T TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 2 45704138 45704138 C T SNP SRBD1 ENST00000263736 human ensembl 69_37n -1 known missense c.2043 p.M681I 1.000 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 164 0 0.00 203 32 13.62 - - - SRD5A2 0 genome.wustl.edu 37 2 31754498 31754498 + RNA SNP T T C TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 2 31754498 31754498 T C SNP SRD5A2 ENST00000233139 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SRD5A2 HGNC ENSG00000049319 139 0 0.00 99 53 34.42 - - - TRAK1 0 genome.wustl.edu 37 3 42226205 42226205 + Missense_Mutation SNP G G A TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 3 42226205 42226205 G A SNP TRAK1 ENST00000396175 human ensembl 69_37n +1 known missense c.218 p.R73H 1.000 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 128 0 0.00 98 25 20.33 - - - ZNF471 0 genome.wustl.edu 37 19 57036477 57036477 + Missense_Mutation SNP A A T TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e2f9eb7-0660-47ae-b86e-652e99fa69ca daf64f76-2c6e-4d95-a8d9-1e4034f8d529 19 57036477 57036477 A T SNP ZNF471 ENST00000308031 human ensembl 69_37n +1 known missense c.1041 p.E347D 0.043 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 ZNF471 HGNC ENSG00000196263 17 0 0.00 29 11 27.50 - - -