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 ABCA11P 0 genome.wustl.edu 37 4 467894 467894 + RNA SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 4 467894 467894 G A SNP ABCA11P ENST00000451020 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors ABCA11P HGNC ENSG00000251595 61 0 0.00 42 14 25.00 - - - AIM1 0 genome.wustl.edu 37 6 106991455 106991455 + Missense_Mutation SNP G G C TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 6 106991455 106991455 G C SNP AIM1 ENST00000369066 human ensembl 69_37n +1 known missense c.3798 p.M1266I 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 540 1 0.18 395 101 20.36 - - - AKR1C1 0 genome.wustl.edu 37 10 5010513 5010513 + Missense_Mutation SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 10 5010513 5010513 G A SNP AKR1C1 ENST00000380872 human ensembl 69_37n +1 known missense c.382 p.V128M 0.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C1 HGNC ENSG00000187134 208 0 0.00 162 50 23.58 - - - ARHGEF4 0 genome.wustl.edu 37 2 131704164 131704164 + Missense_Mutation SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 2 131704164 131704164 C T SNP ARHGEF4 ENST00000326016 human ensembl 69_37n +1 known missense c.383 p.T128M 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 183 0 0.00 158 47 22.93 - - - C10orf12 0 genome.wustl.edu 37 10 98744191 98744191 + Missense_Mutation SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 10 98744191 98744191 G A SNP C10orf12 ENST00000286067 human ensembl 69_37n +1 known missense c.3044 p.R1015H 0.106 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 66 0 0.00 85 18 17.48 - - - C9orf163 0 genome.wustl.edu 37 9 139379395 139379395 + Silent SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 9 139379395 139379395 C T SNP C9orf163 ENST00000354376 human ensembl 69_37n +1 known silent c.495 p.L165 0.000 NULL NULL - no_errors C9orf163 HGNC ENSG00000196366 60 0 0.00 48 19 28.36 - - - CCDC138 0 genome.wustl.edu 37 2 109473397 109473397 + Missense_Mutation SNP A A T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 2 109473397 109473397 A T SNP CCDC138 ENST00000295124 human ensembl 69_37n +1 known missense c.1664 p.D555V 1.000 NULL NULL - no_errors CCDC138 HGNC ENSG00000163006 280 0 0.00 196 46 19.01 - - - CFHR4 0 genome.wustl.edu 37 1 196871653 196871653 + Missense_Mutation SNP A A G TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 1 196871653 196871653 A G SNP CFHR4 ENST00000367416 human ensembl 69_37n +1 known missense c.161 p.Y54C 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 364 0 0.00 281 218 43.60 - - - COL5A3 0 genome.wustl.edu 37 19 10114309 10114309 + Missense_Mutation SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 19 10114309 10114309 C T SNP COL5A3 ENST00000264828 human ensembl 69_37n -1 known missense c.781 p.G261R 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 408 0 0.00 404 96 19.20 - - - COQ10A 0 genome.wustl.edu 37 12 56663001 56663001 + Missense_Mutation SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 12 56663001 56663001 C T SNP COQ10A ENST00000308197 human ensembl 69_37n +1 known missense c.440 p.S147F 1.000 pfam_Polyket_cyc pfam_Polyket_cyc - no_errors COQ10A HGNC ENSG00000135469 127 0 0.00 146 42 22.34 - - - CPAMD8 0 genome.wustl.edu 37 19 17017901 17017901 + Missense_Mutation SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 19 17017901 17017901 C T SNP CPAMD8 ENST00000443236 human ensembl 69_37n -1 known missense c.4061 p.R1354Q 0.625 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CPAMD8 HGNC ENSG00000160111 35 0 0.00 37 5 11.90 - - - CTH 0 genome.wustl.edu 37 1 70897810 70897810 + Nonsense_Mutation SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 1 70897810 70897810 C T SNP CTH ENST00000370938 human ensembl 69_37n +1 known nonsense c.769 p.R257* 1.000 pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cys/Met-Metab_PyrdxlP-dep_enz pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cys/Met-Metab_PyrdxlP-dep_enz - no_errors CTH HGNC ENSG00000116761 329 0 0.00 245 65 20.97 - - - CTNNA1 0 genome.wustl.edu 37 5 138117646 138117646 + Silent SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 5 138117646 138117646 C T SNP CTNNA1 ENST00000302763 human ensembl 69_37n +1 known silent c.33 p.F11 1.000 NULL pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 137 0 0.00 168 43 20.28 - - - DLX3 0 genome.wustl.edu 37 17 48070938 48070938 + Silent SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 17 48070938 48070938 C T SNP DLX3 ENST00000434704 human ensembl 69_37n -1 known silent c.342 p.E114 1.000 superfamily_Homeodomain-like pfam_Distal-less_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX3 HGNC ENSG00000064195 56 0 0.00 35 31 46.97 - - - DNHD1 0 genome.wustl.edu 37 11 6519529 6519529 + Silent SNP C C G TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 11 6519529 6519529 C G SNP DNHD1 ENST00000254579 human ensembl 69_37n +1 known silent c.84 p.V28 0.003 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 34 0 0.00 21 5 19.23 - - - ELAC2 0 genome.wustl.edu 37 17 12903496 12903496 + Missense_Mutation SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 17 12903496 12903496 G A SNP ELAC2 ENST00000338034 human ensembl 69_37n -1 known missense c.1400 p.A467V 0.000 NULL pfam_Beta-lactamas-like - no_errors ELAC2 HGNC ENSG00000006744 30 0 0.00 39 7 15.22 - - - FAP 0 genome.wustl.edu 37 2 163044844 163044844 + Missense_Mutation SNP C C G TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 2 163044844 163044844 C G SNP FAP ENST00000188790 human ensembl 69_37n -1 known missense c.1649 p.R550T 0.005 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 160 0 0.00 128 38 22.89 - - - FHDC1 0 genome.wustl.edu 37 4 153889196 153889196 + Missense_Mutation SNP G G C TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 4 153889196 153889196 G C SNP FHDC1 ENST00000260008 human ensembl 69_37n +1 known missense c.1165 p.E389Q 0.987 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC ENSG00000137460 207 0 0.00 166 41 19.71 - - - GCM2 0 genome.wustl.edu 37 6 10876743 10876743 + Nonsense_Mutation SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 6 10876743 10876743 G A SNP GCM2 ENST00000379491 human ensembl 69_37n -1 known nonsense c.391 p.R131* 1.000 pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 80 0 0.00 64 19 22.89 - - - GPR37 0 genome.wustl.edu 37 7 124404936 124404936 + Frame_Shift_Del DEL G G - TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 7 124404936 124404936 G - DEL GPR37 ENST00000303921 human ensembl 69_37n -1 known frame_shift_del c.95 p.P32fs 0.006 NULL pfam_7TM_GPCR_Rhodpsn,prints_GPR37_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR37 HGNC ENSG00000170775 18 0 0.00 14 2 12.50 - - - GREB1L 0 genome.wustl.edu 37 18 19085428 19085428 + Silent SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 18 19085428 19085428 C T SNP GREB1L ENST00000424526 human ensembl 69_37n +1 known silent c.4128 p.I1376 1.000 NULL NULL - no_errors GREB1L HGNC ENSG00000141449 195 0 0.00 122 42 25.61 - - - HCN4 0 genome.wustl.edu 37 15 73615867 73615867 + Missense_Mutation SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 15 73615867 73615867 G A SNP HCN4 ENST00000261917 human ensembl 69_37n -1 known missense c.2567 p.S856F 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 38 0 0.00 32 6 15.38 - - - HEPH 0 genome.wustl.edu 37 X 65427137 65427137 + Silent SNP C C A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 X 65427137 65427137 C A SNP HEPH ENST00000519389 human ensembl 69_37n +1 known silent c.2554 p.R852 0.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 281 1 0.35 156 52 25.00 - - - IQCF3 0 genome.wustl.edu 37 3 51864469 51864469 + Silent SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 3 51864469 51864469 G A SNP IQCF3 ENST00000437810 human ensembl 69_37n +1 known silent c.117 p.Q39 0.679 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF3 HGNC ENSG00000229972 55 0 0.00 53 15 22.06 - - - JAK3 0 genome.wustl.edu 37 19 17945508 17945508 + Missense_Mutation SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 19 17945508 17945508 C T SNP JAK3 ENST00000458235 human ensembl 69_37n -1 known missense c.2222 p.R741Q 0.046 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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 25 0 0.00 26 7 21.21 - - - LPA 0 genome.wustl.edu 37 6 160968970 160968970 + Splice_Site SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 6 160968970 160968970 C T SNP LPA ENST00000316300 human ensembl 69_37n -1 known splice_site c.5156-1 e32-1 0.965 - - - no_errors LPA HGNC ENSG00000198670 230 0 0.00 166 61 26.87 - - - LRRC16B 0 genome.wustl.edu 37 14 24532005 24532005 + Missense_Mutation SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 14 24532005 24532005 C T SNP LRRC16B ENST00000342740 human ensembl 69_37n +1 known missense c.2656 p.R886W 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 74 0 0.00 78 24 23.53 - - - LY75 0 genome.wustl.edu 37 2 160714934 160714934 + Missense_Mutation SNP A A T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 2 160714934 160714934 A T SNP LY75 ENST00000554112 human ensembl 69_37n -1 known missense c.2322 p.F774L 0.001 superfamily_C-type_lectin_fold,smart_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 300 0 0.00 218 55 20.15 - - - MAOA 0 genome.wustl.edu 37 X 43590602 43590602 + Missense_Mutation SNP A A G TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 X 43590602 43590602 A G SNP MAOA ENST00000338702 human ensembl 69_37n +1 known missense c.760 p.I254V 0.885 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase - no_errors MAOA HGNC ENSG00000189221 126 0 0.00 116 20 14.71 - - - MAOB 0 genome.wustl.edu 37 X 43698178 43698178 + Missense_Mutation SNP G G T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 X 43698178 43698178 G T SNP MAOB ENST00000378069 human ensembl 69_37n -1 known missense c.215 p.A72D 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors MAOB HGNC ENSG00000069535 253 0 0.00 163 48 22.75 - - - MTSS1 0 genome.wustl.edu 37 8 125565583 125565583 + Missense_Mutation SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 8 125565583 125565583 G A SNP MTSS1 ENST00000518547 human ensembl 69_37n -1 known missense c.1918 p.R640W 0.108 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 120 0 0.00 172 31 15.20 - - - MYT1L 0 genome.wustl.edu 37 2 1926197 1926197 + Missense_Mutation SNP C C A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 2 1926197 1926197 C A SNP MYT1L ENST00000399161 human ensembl 69_37n -1 known missense c.1344 p.M448I 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 256 0 0.00 225 57 20.21 - - - NOD1 0 genome.wustl.edu 37 7 30496531 30496531 + Missense_Mutation SNP C C G TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 7 30496531 30496531 C G SNP NOD1 ENST00000222823 human ensembl 69_37n -1 known missense c.7 p.E3Q 0.446 NULL pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 184 0 0.00 138 54 28.12 - - - PAICS 0 genome.wustl.edu 37 4 57314718 57314718 + Silent SNP G G T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 4 57314718 57314718 G T SNP PAICS ENST00000264221 human ensembl 69_37n +1 known silent c.528 p.L176 1.000 pfam_SAICAR_synth pfam_SAICAR_synth,pfam_N5-CAIR_Mutase_PurE_dom,superfamily_N5-CAIR_Mutase_PurE_dom,tigrfam_N5-CAIR_Mutase_PurE_dom - no_errors PAICS HGNC ENSG00000128050 134 0 0.00 118 40 25.32 - - - PC 0 genome.wustl.edu 37 11 66617203 66617203 + Nonsense_Mutation SNP G G T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 11 66617203 66617203 G T SNP PC ENST00000393958 human ensembl 69_37n -1 known nonsense c.3026 p.S1009* 0.996 pfam_Carboxylase_cons_dom,pirsf_Pyruv_COase,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 56 0 0.00 97 15 13.39 - - - PCDHB7 0 genome.wustl.edu 37 5 140552846 140552846 + Missense_Mutation SNP G G C TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 5 140552846 140552846 G C SNP PCDHB7 ENST00000231137 human ensembl 69_37n +1 known missense c.430 p.E144Q 0.999 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 82 0 0.00 61 36 37.11 - - - PLA1A 0 genome.wustl.edu 37 3 119327774 119327774 + Missense_Mutation SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 3 119327774 119327774 C T SNP PLA1A ENST00000273371 human ensembl 69_37n +1 known missense c.433 p.L145F 0.002 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors PLA1A HGNC ENSG00000144837 285 0 0.00 197 72 26.77 - - - RAB13 0 genome.wustl.edu 37 1 153954902 153954902 + Missense_Mutation SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 1 153954902 153954902 G A SNP RAB13 ENST00000368575 human ensembl 69_37n -1 known missense c.499 p.R167W 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,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 RAB13 HGNC ENSG00000143545 236 0 0.00 325 53 14.02 - - - SEC24C 0 genome.wustl.edu 37 10 75528883 75528883 + Silent SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 10 75528883 75528883 C T SNP SEC24C ENST00000339365 human ensembl 69_37n +1 known silent c.2397 p.L799 0.989 pfam_Sec23_24_beta_S pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 112 1 0.88 115 32 21.77 - - - SEC24C 0 genome.wustl.edu 37 10 75530080 75530080 + Nonsense_Mutation SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 10 75530080 75530080 C T SNP SEC24C ENST00000339365 human ensembl 69_37n +1 known nonsense c.2905 p.R969* 1.000 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 185 1 0.47 130 48 23.65 - - - SEC24C 0 genome.wustl.edu 37 10 75530798 75530798 + Missense_Mutation SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 10 75530798 75530798 C T SNP SEC24C ENST00000339365 human ensembl 69_37n +1 known missense c.3230 p.S1077F 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 195 0 0.00 145 35 19.44 - - - SLC30A10 0 genome.wustl.edu 37 1 220089147 220089147 + Missense_Mutation SNP C C G TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 1 220089147 220089147 C G SNP SLC30A10 ENST00000366926 human ensembl 69_37n -1 known missense c.1102 p.E368Q 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 64 0 0.00 95 17 15.18 - - - SLC38A3 0 genome.wustl.edu 37 3 50252845 50252845 + RNA SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 3 50252845 50252845 C T SNP SLC38A3 ENST00000420502 human ensembl 69_37n +1 known rna NULL NULL 0.910 - - - no_errors SLC38A3 HGNC ENSG00000188338 95 0 0.00 72 19 20.88 - - - SPATA13 0 genome.wustl.edu 37 13 24798398 24798398 + Missense_Mutation SNP C C G TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 13 24798398 24798398 C G SNP SPATA13 ENST00000382108 human ensembl 69_37n +1 known missense c.1331 p.S444C 0.008 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 87 0 0.00 63 16 20.25 - - - SRCAP 0 genome.wustl.edu 37 16 30732773 30732773 + Missense_Mutation SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 16 30732773 30732773 C T SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known missense c.3517 p.P1173S 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 62 0 0.00 68 18 20.93 - - - ST6GALNAC2 0 genome.wustl.edu 37 17 74566725 74566725 + Missense_Mutation SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 17 74566725 74566725 G A SNP ST6GALNAC2 ENST00000225276 human ensembl 69_37n -1 known missense c.695 p.S232L 0.410 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC2 HGNC ENSG00000070731 41 0 0.00 78 21 21.21 - - - SUN5 0 genome.wustl.edu 37 20 31573550 31573550 + Missense_Mutation SNP C C A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 20 31573550 31573550 C A SNP SUN5 ENST00000356173 human ensembl 69_37n -1 known missense c.889 p.V297F 0.997 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN5 HGNC ENSG00000167098 104 0 0.00 190 27 12.44 - - - SYNE2 0 genome.wustl.edu 37 14 64540727 64540727 + Missense_Mutation SNP C C A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 14 64540727 64540727 C A SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.10739 p.T3580N 0.546 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 210 1 0.47 143 28 16.37 - - - TBX3 0 genome.wustl.edu 37 12 115118757 115118758 + Frame_Shift_Ins INS - - C TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 12 115118757 115118758 - C INS TBX3 ENST00000257566 human ensembl 69_37n -1 known frame_shift_ins c.584_583 p.E195fs 1.000:1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 206 0 0.00 172 68 28.33 - - - TMC7 0 genome.wustl.edu 37 16 19020581 19020581 + Missense_Mutation SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 16 19020581 19020581 G A SNP TMC7 ENST00000304381 human ensembl 69_37n +1 known missense c.155 p.R52K 0.566 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 172 0 0.00 157 27 14.67 - - - TMEM191A 0 genome.wustl.edu 37 22 21055496 21055496 + RNA SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 22 21055496 21055496 G A SNP TMEM191A ENST00000359859 human ensembl 69_37n +1 known rna NULL NULL 0.176 - - - no_errors TMEM191A HGNC ENSG00000226287 479 0 0.00 337 99 22.71 - - - TNKS 0 genome.wustl.edu 37 8 9619112 9619112 + Silent SNP C C A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 8 9619112 9619112 C A SNP TNKS ENST00000310430 human ensembl 69_37n +1 known silent c.3240 p.I1080 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TNKS HGNC ENSG00000173273 276 1 0.36 106 41 27.89 - - - TRIM45 0 genome.wustl.edu 37 1 117663630 117663630 + Missense_Mutation SNP C C G TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 1 117663630 117663630 C G SNP TRIM45 ENST00000256649 human ensembl 69_37n -1 known missense c.194 p.R65P 0.999 smart_Znf_RING,pfscan_Znf_RING pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 66 0 0.00 49 11 18.33 - - - TRIM49B 0 genome.wustl.edu 37 11 49053416 49053416 + Missense_Mutation SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 11 49053416 49053416 G A SNP TRIM49B ENST00000332682 human ensembl 69_37n +1 known missense c.265 p.E89K 0.710 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49B HGNC ENSG00000182053 232 0 0.00 183 63 25.61 - - - TRIO 0 genome.wustl.edu 37 5 14472760 14472760 + Missense_Mutation SNP T T C TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 5 14472760 14472760 T C SNP TRIO ENST00000344204 human ensembl 69_37n +1 known missense c.5972 p.V1991A 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 557 0 0.00 474 125 20.87 - - - TTN 0 genome.wustl.edu 37 2 179600355 179600355 + Missense_Mutation SNP C C A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 2 179600355 179600355 C A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.11086 p.D3696Y 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 269 0 0.00 181 55 23.21 - - - UBE3A 0 genome.wustl.edu 37 15 25616325 25616325 + Missense_Mutation SNP C C G TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 15 25616325 25616325 C G SNP UBE3A ENST00000397954 human ensembl 69_37n -1 known missense c.1005 p.Q335H 1.000 pirsf_Ubiquitin-protein_ligase_E6-AP pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 189 0 0.00 125 19 13.10 - - - WDFY1 0 genome.wustl.edu 37 2 224782704 224782704 + Missense_Mutation SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 2 224782704 224782704 C T SNP WDFY1 ENST00000233055 human ensembl 69_37n -1 known missense c.161 p.R54K 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY1 HGNC ENSG00000085449 190 0 0.00 151 43 22.16 - - - WEE1 0 genome.wustl.edu 37 11 9598152 9598152 + Missense_Mutation SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 11 9598152 9598152 G A SNP WEE1 ENST00000450114 human ensembl 69_37n +1 known missense c.965 p.G322E 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom - no_errors WEE1 HGNC ENSG00000166483 425 0 0.00 278 64 18.66 - - - WNT2 0 genome.wustl.edu 37 7 116955280 116955280 + Missense_Mutation SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 7 116955280 116955280 C T SNP WNT2 ENST00000265441 human ensembl 69_37n -1 known missense c.433 p.A145T 0.064 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC ENSG00000105989 262 0 0.00 210 59 21.93 - - - XBP1 0 genome.wustl.edu 37 22 29191587 29191588 + Frame_Shift_Ins INS - - G TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 22 29191587 29191588 - G INS XBP1 ENST00000344347 human ensembl 69_37n -1 known frame_shift_ins c.707_706 p.L236fs 1.000:1.000 NULL pfam_bZIP_2,pfam_bZIP_1,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors XBP1 HGNC ENSG00000100219 110 0 0.00 87 21 19.44 - - - ZNF131 0 genome.wustl.edu 37 5 43175004 43175004 + Silent SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 5 43175004 43175004 G A SNP ZNF131 ENST00000399534 human ensembl 69_37n +1 known silent c.1641 p.R547 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 97 0 0.00 78 43 35.54 - - - ZNF295-AS1 0 genome.wustl.edu 37 21 43444748 43444748 + RNA SNP C C G TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 21 43444748 43444748 C G SNP ZNF295-AS1 ENST00000412906 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ZNF295-AS1 HGNC ENSG00000237232 222 0 0.00 151 52 25.62 - - - ZNF660 0 genome.wustl.edu 37 3 44636310 44636310 + Nonsense_Mutation SNP C C T TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 52f7c22f-84cb-4263-93bf-1ae8cf8abbd2 eccf2a84-ba31-455f-942a-2c1dc7b08cc8 3 44636310 44636310 C T SNP ZNF660 ENST00000322734 human ensembl 69_37n +1 known nonsense c.625 p.Q209* 0.120 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF660 HGNC ENSG00000144792 280 0 0.00 184 49 21.03 - - -