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 AHNAK2 0 genome.wustl.edu 37 14 105416976 105416976 + Silent SNP G G A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 14 105416976 105416976 G A SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known silent c.4812 p.D1604 0.013 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 88 0 0.00 73 20 21.51 - - - AKAP9 0 genome.wustl.edu 37 7 91643582 91643582 + Silent SNP A A G TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 7 91643582 91643582 A G SNP AKAP9 ENST00000359028 human ensembl 69_37n +1 known silent c.3588 p.L1196 0.092 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 86 0 0.00 75 15 16.67 - - - ATP6V1B2 0 genome.wustl.edu 37 8 20074770 20074770 + Silent SNP T T C TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 8 20074770 20074770 T C SNP ATP6V1B2 ENST00000276390 human ensembl 69_37n +1 known silent c.1201 p.L401 0.998 tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B2 HGNC ENSG00000147416 80 0 0.00 34 11 24.44 - - - BTBD19 0 genome.wustl.edu 37 1 45275937 45275937 + Missense_Mutation SNP T T A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 1 45275937 45275937 T A SNP BTBD19 ENST00000450269 human ensembl 69_37n +1 known missense c.139 p.C47S 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD19 HGNC ENSG00000222009 45 0 0.00 36 8 17.39 - - - CBL 0 genome.wustl.edu 37 11 119103255 119103255 + Missense_Mutation SNP T T C TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 11 119103255 119103255 T C SNP CBL ENST00000264033 human ensembl 69_37n +1 known missense c.293 p.I98T 1.000 pfam_Adaptor_Cbl_N_hlx,superfamily_Adaptor_Cbl_N_hlx pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 49 0 0.00 37 7 15.91 - - - CHL1 0 genome.wustl.edu 37 3 447268 447268 + Missense_Mutation SNP C C T TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 3 447268 447268 C T SNP CHL1 ENST00000445697 human ensembl 69_37n +1 known missense c.950 p.T317 0.959 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CHL1 HGNC ENSG00000134121 48 0 0.00 18 5 21.74 - - - COL5A1 0 genome.wustl.edu 37 9 137707822 137707822 + Silent SNP A A G TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 9 137707822 137707822 A G SNP COL5A1 ENST00000371817 human ensembl 69_37n +1 known silent c.4110 p.E1370 0.400 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 66 0 0.00 56 10 14.93 - - - CROCCP2 0 genome.wustl.edu 37 1 16950470 16950470 + RNA SNP C C T TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 1 16950470 16950470 C T SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.996 - - - no_errors CROCCP2 HGNC ENSG00000215908 23 0 0.00 31 6 16.22 - - - FLRT2 0 genome.wustl.edu 37 14 86088323 86088323 + Silent SNP C C T TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 14 86088323 86088323 C T SNP FLRT2 ENST00000330753 human ensembl 69_37n +1 known silent c.465 p.F155 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 28 0 0.00 30 5 14.29 - - - HEATR8 0 genome.wustl.edu 37 1 55166925 55166925 + Missense_Mutation SNP G G A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 1 55166925 55166925 G A SNP HEATR8 ENST00000421030 human ensembl 69_37n +1 known missense c.3215 p.R1072Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR8 HGNC ENSG00000184313 42 0 0.00 56 10 15.15 - - - ICOSLG 0 genome.wustl.edu 37 21 45651313 45651313 + Nonsense_Mutation SNP C C A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 21 45651313 45651313 C A SNP ICOSLG ENST00000344330 human ensembl 69_37n -1 known nonsense c.712 p.E238* 0.000 NULL pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like - no_errors ICOSLG HGNC ENSG00000160223 74 0 0.00 44 26 37.14 - - - IL3RA 0 genome.wustl.edu 37 X 1475125 1475125 + Missense_Mutation SNP C C G TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 X 1475125 1475125 C G SNP IL3RA ENST00000331035 human ensembl 69_37n +1 known missense c.628 p.P210A 0.027 superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC ENSG00000185291 54 0 0.00 48 15 23.81 - - - IL4R 0 genome.wustl.edu 37 16 27375135 27375135 + Missense_Mutation SNP A A G TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 16 27375135 27375135 A G SNP IL4R ENST00000170630 human ensembl 69_37n +1 known missense c.2462 p.Y821C 0.000 NULL pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 26 0 0.00 9 6 37.50 - - - JPH4 0 genome.wustl.edu 37 14 24040436 24040436 + Frame_Shift_Del DEL C C - TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 14 24040436 24040436 C - DEL JPH4 ENST00000356300 human ensembl 69_37n -1 known frame_shift_del c.1504 p.A502fs 0.057 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 15 0 0.00 15 3 16.67 - - - KIAA1109 0 genome.wustl.edu 37 4 123202768 123202768 + Nonsense_Mutation SNP T T A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 4 123202768 123202768 T A SNP KIAA1109 ENST00000419325 human ensembl 69_37n +1 putative nonsense c.2748 p.C916* 0.999 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIAA1109 HGNC ENSG00000138688 57 0 0.00 39 13 25.00 - - - KIAA1109 0 genome.wustl.edu 37 4 123271039 123271039 + Missense_Mutation SNP G G C TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 4 123271039 123271039 G C SNP KIAA1109 ENST00000264501 human ensembl 69_37n +1 known missense c.13659 p.K4553N 1.000 pfam_Fragile_site-assoc_C pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 62 0 0.00 48 7 12.73 - - - KIF4A 0 genome.wustl.edu 37 X 69639610 69639610 + Missense_Mutation SNP G G A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 X 69639610 69639610 G A SNP KIF4A ENST00000374403 human ensembl 69_37n +1 known missense c.3472 p.V1158I 0.976 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 42 0 0.00 50 9 15.25 - - - LRRC37A6P 0 genome.wustl.edu 37 10 27540072 27540072 + RNA SNP C C A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 10 27540072 27540072 C A SNP LRRC37A6P ENST00000574795 human ensembl 69_37n -1 known rna NULL NULL 0.018 - - - no_errors LRRC37A6P HGNC ENSG00000230445 10 0 0.00 13 4 23.53 - - - MASP1 0 genome.wustl.edu 37 3 186961340 186961340 + Missense_Mutation SNP G G C TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 3 186961340 186961340 G C SNP MASP1 ENST00000296280 human ensembl 69_37n -1 known missense c.1160 p.T387S 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6 - no_errors MASP1 HGNC ENSG00000127241 107 0 0.00 78 12 13.33 - - - MLL3 0 genome.wustl.edu 37 7 151945451 151945451 + Nonsense_Mutation SNP C C A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 7 151945451 151945451 C A SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known nonsense c.2068 p.E690* 0.069 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 79 0 0.00 69 27 28.12 - - - MTMR8 0 genome.wustl.edu 37 X 63490847 63490847 + Missense_Mutation SNP C C T TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 X 63490847 63490847 C T SNP MTMR8 ENST00000374852 human ensembl 69_37n -1 known missense c.1588 p.D530N 0.011 NULL pfam_Myotub-related,smart_Tyr_Pase_cat - no_errors MTMR8 HGNC ENSG00000102043 75 0 0.00 62 12 16.22 - - - MUC16 0 genome.wustl.edu 37 19 9073430 9073430 + Missense_Mutation SNP C C G TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 19 9073430 9073430 C G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.14016 p.M4672I 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 67 0 0.00 42 30 41.67 - - - NDUFA4 0 genome.wustl.edu 37 7 10978513 10978514 + Frame_Shift_Ins INS - - G TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 7 10978513 10978514 - G INS NDUFA4 ENST00000339600 human ensembl 69_37n -1 known frame_shift_ins c.53_52 p.L18fs 0.961:0.958 NULL NULL - no_errors NDUFA4 HGNC ENSG00000189043 41 0 0.00 33 6 15.38 - - - PCDHB11 0 genome.wustl.edu 37 5 140581057 140581057 + Silent SNP G G A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 5 140581057 140581057 G A SNP PCDHB11 ENST00000354757 human ensembl 69_37n +1 known silent c.1710 p.A570 0.001 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 23 0 0.00 8 4 30.77 - - - PDC 0 genome.wustl.edu 37 1 186413472 186413472 + Missense_Mutation SNP A A G TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 1 186413472 186413472 A G SNP PDC ENST00000340129 human ensembl 69_37n -1 known missense c.380 p.I127T 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDC HGNC ENSG00000116703 45 0 0.00 40 23 36.51 - - - PDCD6 0 genome.wustl.edu 37 5 272863 272863 + Missense_Mutation SNP G G A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 5 272863 272863 G A SNP PDCD6 ENST00000264933 human ensembl 69_37n +1 known missense c.139 p.E47K 0.989 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors PDCD6 HGNC ENSG00000249915 67 0 0.00 32 11 25.58 - - - PELI2 0 genome.wustl.edu 37 14 56763462 56763462 + Missense_Mutation SNP C C T TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 14 56763462 56763462 C T SNP PELI2 ENST00000267460 human ensembl 69_37n +1 known missense c.841 p.R281W 0.998 pfam_Pellino pfam_Pellino - no_errors PELI2 HGNC ENSG00000139946 29 0 0.00 24 4 14.29 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 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 74 0 0.00 33 30 47.62 - - - PNPT1 0 genome.wustl.edu 37 2 55894154 55894154 + Missense_Mutation SNP G G A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 2 55894154 55894154 G A SNP PNPT1 ENST00000415374 human ensembl 69_37n -1 known missense c.1148 p.S383L 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase,tigrfam_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold-like,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC ENSG00000138035 87 0 0.00 69 10 12.66 - - - RALB 0 genome.wustl.edu 37 2 121043616 121043616 + Missense_Mutation SNP C C T TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 2 121043616 121043616 C T SNP RALB ENST00000474855 human ensembl 69_37n +1 known missense c.347 p.S116L 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RALB HGNC ENSG00000144118 57 0 0.00 62 13 17.11 - - - RELN 0 genome.wustl.edu 37 7 103206817 103206817 + Missense_Mutation SNP C C T TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 7 103206817 103206817 C T SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.4790 p.G1597E 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 58 0 0.00 54 11 16.92 - - - RHBDL3 0 genome.wustl.edu 37 17 30648095 30648095 + Missense_Mutation SNP C C T TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 17 30648095 30648095 C T SNP RHBDL3 ENST00000431505 human ensembl 69_37n +1 putative missense c.961 p.R321C 0.932 NULL pfam_Peptidase_S54_rhomboid_dom,pfscan_EF_HAND_2 - no_stop_codon RHBDL3 HGNC ENSG00000141314 83 0 0.00 63 12 16.00 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037896 10037896 + RNA SNP C C T TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 Y 10037896 10037896 C T SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 10 0 0.00 9 6 40.00 - - - TMEM241 0 genome.wustl.edu 37 18 20936610 20936610 + Silent SNP G G A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 18 20936610 20936610 G A SNP TMEM241 ENST00000383233 human ensembl 69_37n -1 known silent c.619 p.L207 0.988 NULL NULL - no_errors TMEM241 HGNC ENSG00000134490 44 0 0.00 14 17 54.84 - - - TP53 0 genome.wustl.edu 37 17 7577096 7577096 + Missense_Mutation SNP T T A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 17 7577096 7577096 T A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.842 p.D281V 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 63 0 0.00 13 15 53.57 - - - TYR 0 genome.wustl.edu 37 11 88911832 88911832 + Missense_Mutation SNP C C A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 11 88911832 88911832 C A SNP TYR ENST00000263321 human ensembl 69_37n +1 known missense c.711 p.D237E 0.999 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 50 0 0.00 32 5 13.51 - - - UBA1 0 genome.wustl.edu 37 X 47061807 47061807 + Silent SNP C C T TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 X 47061807 47061807 C T SNP UBA1 ENST00000335972 human ensembl 69_37n +1 known silent c.960 p.F320 0.938 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 69 0 0.00 40 7 14.89 - - - UPRT 0 genome.wustl.edu 37 X 74519659 74519659 + Missense_Mutation SNP G G A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 X 74519659 74519659 G A SNP UPRT ENST00000373383 human ensembl 69_37n +1 known missense c.652 p.A218T 1.000 pfam_PRibTrfase pfam_PRibTrfase - no_errors UPRT HGNC ENSG00000094841 55 0 0.00 39 16 29.09 - - - WDR46 0 genome.wustl.edu 37 6 33255278 33255278 + Missense_Mutation SNP G G C TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 6 33255278 33255278 G C SNP WDR46 ENST00000374617 human ensembl 69_37n -1 known missense c.733 p.L245V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR46 HGNC ENSG00000227057 34 0 0.00 25 6 19.35 - - - ZNF578 0 genome.wustl.edu 37 19 53005128 53005128 + Silent SNP G G A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 19 53005128 53005128 G A SNP ZNF578 ENST00000421239 human ensembl 69_37n +1 known silent c.30 p.R10 0.105 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 ZNF578 HGNC ENSG00000258405 138 0 0.00 65 15 18.75 - - - ZNF648 0 genome.wustl.edu 37 1 182025773 182025773 + Missense_Mutation SNP G G A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 1 182025773 182025773 G A SNP ZNF648 ENST00000339948 human ensembl 69_37n -1 known missense c.1373 p.A458V 0.985 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 31 0 0.00 22 7 24.14 - - - ZNF699 0 genome.wustl.edu 37 19 9408556 9408556 + Missense_Mutation SNP C C A TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 19 9408556 9408556 C A SNP ZNF699 ENST00000308650 human ensembl 69_37n -1 known missense c.286 p.G96C 0.991 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 ZNF699 HGNC ENSG00000196110 56 0 0.00 70 9 11.39 - - - ZNF814 0 genome.wustl.edu 37 19 58385256 58385256 + Missense_Mutation SNP A A G TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 19 58385256 58385256 A G SNP ZNF814 ENST00000435989 human ensembl 69_37n -1 known missense c.1502 p.F501S 0.482 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 ZNF814 HGNC ENSG00000204514 89 0 0.00 52 13 20.00 - - - ZNF880 0 genome.wustl.edu 37 19 52888293 52888293 + Missense_Mutation SNP C C G TCGA-AR-A24S-01A-11D-A167-09 TCGA-AR-A24S-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx aad32a56-5b98-433e-bb6e-48e09a027db6 1385c890-fc86-404f-96f9-90d1bd595b10 19 52888293 52888293 C G SNP ZNF880 ENST00000422689 human ensembl 69_37n +1 known missense c.1460 p.T487S 1.000 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 ZNF880 HGNC ENSG00000221923 67 0 0.00 30 9 23.08 - - -