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 ABCA1 0 genome.wustl.edu 37 9 107558476 107558476 + Missense_Mutation SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 9 107558476 107558476 C A SNP ABCA1 ENST00000374736 human ensembl 69_37n -1 known missense c.5240 p.W1747L 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 77 0 0.00 41 25 37.88 - - - ABCB8 0 genome.wustl.edu 37 7 150739114 150739114 + Missense_Mutation SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 7 150739114 150739114 G A SNP ABCB8 ENST00000297504 human ensembl 69_37n +1 known missense c.1735 p.E579K 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB8 HGNC ENSG00000197150 38 0 0.00 18 5 21.74 - - - ABLIM1 0 genome.wustl.edu 37 10 116199016 116199016 + Splice_Site SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 10 116199016 116199016 C T SNP ABLIM1 ENST00000533213 human ensembl 69_37n -1 known splice_site c.1884+2 e20+2 1.000 - - - no_errors ABLIM1 HGNC ENSG00000099204 74 0 0 35 7 16.67 - - - ACTG1 0 genome.wustl.edu 37 17 79478492 79478492 + Frame_Shift_Del DEL A A - TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 17 79478492 79478492 A - DEL ACTG1 ENST00000331925 human ensembl 69_37n -1 known frame_shift_del c.524 p.I175fs 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG1 HGNC ENSG00000184009 40 0 0.00 24 7 21.21 - - - ADAM9 0 genome.wustl.edu 37 8 38899492 38899492 + Missense_Mutation SNP T T A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 8 38899492 38899492 T A SNP ADAM9 ENST00000487273 human ensembl 69_37n +1 known missense c.1158 p.S386R 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ENSG00000168615 54 0 0.00 43 6 12.24 - - - AHCTF1 0 genome.wustl.edu 37 1 247024360 247024360 + Missense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 247024360 247024360 G C SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known missense c.4000 p.P1334A 0.104 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 100 0 0.00 92 20 17.86 - - - AREG 0 genome.wustl.edu 37 4 75311103 75311103 + Missense_Mutation SNP C C G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 4 75311103 75311103 C G SNP AREG ENST00000264487 human ensembl 69_37n +1 known missense c.41 p.S14W 0.223 NULL pfscan_EG-like_dom - no_errors AREG HGNC ENSG00000109321 53 0 0.00 7 8 53.33 - - - ATP2C1 0 genome.wustl.edu 37 3 130686035 130686035 + Missense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 3 130686035 130686035 G C SNP ATP2C1 ENST00000393221 human ensembl 69_37n +1 known missense c.1271 p.G424A 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1 pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2C1 HGNC ENSG00000017260 126 0 0.00 97 40 29.20 - - - ATP2C2 0 genome.wustl.edu 37 16 84488552 84488552 + Silent SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 16 84488552 84488552 C A SNP ATP2C2 ENST00000262429 human ensembl 69_37n +1 known silent c.2109 p.A703 1.000 superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2C2 HGNC ENSG00000064270 80 0 0.00 44 8 15.38 - - - BARHL2 0 genome.wustl.edu 37 1 91180220 91180220 + Missense_Mutation SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 91180220 91180220 G T SNP BARHL2 ENST00000370445 human ensembl 69_37n -1 known missense c.719 p.S240Y 0.998 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 90 0 0.00 28 36 56.25 - - - BBS10 0 genome.wustl.edu 37 12 76740626 76740626 + Frame_Shift_Del DEL C C - TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 12 76740626 76740626 C - DEL BBS10 ENST00000393262 human ensembl 69_37n -1 known frame_shift_del c.1139 p.R380fs 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS10 HGNC ENSG00000179941 42 0 0.00 37 7 15.91 - - - BCL2L2 0 genome.wustl.edu 37 14 23778024 23778024 + Splice_Site SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 14 23778024 23778024 G A SNP BCL2L2 ENST00000250405 human ensembl 69_37n +1 known splice_site c.433-1 e2-1 1.000 - - - no_errors BCL2L2 HGNC ENSG00000129473 36 0 0.00 8 14 63.64 - - - BPIFA2 0 genome.wustl.edu 37 20 31765968 31765968 + Silent SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 20 31765968 31765968 C T SNP BPIFA2 ENST00000253362 human ensembl 69_37n +1 known silent c.579 p.I193 0.006 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA2 HGNC ENSG00000131050 39 0 0.00 22 11 33.33 - - - BRSK2 0 genome.wustl.edu 37 11 1463799 1463799 + Missense_Mutation SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 11 1463799 1463799 C A SNP BRSK2 ENST00000382179 human ensembl 69_37n +1 known missense c.631 p.L211M 0.998 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,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,pfscan_Prot_kinase_cat_dom - no_errors BRSK2 HGNC ENSG00000174672 68 0 0.00 19 9 32.14 - - - BTD 0 genome.wustl.edu 37 3 15677076 15677076 + Missense_Mutation SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 3 15677076 15677076 G A SNP BTD ENST00000303498 human ensembl 69_37n +1 known missense c.190 p.E64K 1.000 superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors BTD HGNC ENSG00000169814 53 0 0.00 67 14 17.07 - - - C1orf112 0 genome.wustl.edu 37 1 169798585 169798585 + Missense_Mutation SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 169798585 169798585 G A SNP C1orf112 ENST00000286031 human ensembl 69_37n +1 known missense c.1309 p.E437K 1.000 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 132 1 0.75 97 21 17.80 - - - C4orf50 0 genome.wustl.edu 37 4 5961272 5961274 + In_Frame_Del DEL GTT GTT - TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 4 5961272 5961274 GTT - DEL C4orf50 ENST00000531445 human ensembl 69_37n -1 known in_frame_del c.2083_2081 p.Q694in_frame_del 0.000:0.000:0.000 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 68 0 0.00 21 16 43.24 - - - C5orf34 0 genome.wustl.edu 37 5 43505873 43505873 + Missense_Mutation SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 5 43505873 43505873 G A SNP C5orf34 ENST00000503655 human ensembl 69_37n -1 known missense c.152 p.A51V 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C5orf34 HGNC ENSG00000172244 43 0 0.00 18 18 50.00 - - - CACNA1A 0 genome.wustl.edu 37 19 13476202 13476202 + Missense_Mutation SNP A A C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 19 13476202 13476202 A C SNP CACNA1A ENST00000360228 human ensembl 69_37n -1 known missense c.713 p.L238R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 45 0 0.00 49 17 25.76 - - - CACNA2D4 0 genome.wustl.edu 37 12 2024051 2024051 + Missense_Mutation SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 12 2024051 2024051 G T SNP CACNA2D4 ENST00000382722 human ensembl 69_37n -1 known missense c.278 p.T93N 0.984 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 76 0 0.00 57 37 39.36 - - - CASP8 0 genome.wustl.edu 37 2 202149565 202149565 + Missense_Mutation SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 2 202149565 202149565 C T SNP CASP8 ENST00000358485 human ensembl 69_37n +1 known missense c.1006 p.L336F 0.994 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20 pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 32 0 0.00 34 27 44.26 - - - CASP8AP2 0 genome.wustl.edu 37 6 90566882 90566882 + RNA SNP A A C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 6 90566882 90566882 A C SNP CASP8AP2 ENST00000237177 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors CASP8AP2 HGNC ENSG00000118412 59 0 0.00 38 22 36.67 - - - CD226 0 genome.wustl.edu 37 18 67613972 67613972 + Nonsense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 18 67613972 67613972 G C SNP CD226 ENST00000280200 human ensembl 69_37n -1 known nonsense c.380 p.S127* 0.947 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD226 HGNC ENSG00000150637 32 0 0.00 20 10 33.33 - - - CDS2 0 genome.wustl.edu 37 20 5163085 5163085 + Missense_Mutation SNP C C G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 20 5163085 5163085 C G SNP CDS2 ENST00000460006 human ensembl 69_37n +1 known missense c.582 p.F194L 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS2 HGNC ENSG00000101290 133 0 0.00 63 18 22.22 - - - CFH 0 genome.wustl.edu 37 1 196684806 196684806 + Nonsense_Mutation SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 196684806 196684806 G T SNP CFH ENST00000367429 human ensembl 69_37n +1 known nonsense c.1603 p.E535* 1.000 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 CFH HGNC ENSG00000000971 140 0 0.00 72 49 40.50 - - - CHD6 0 genome.wustl.edu 37 20 40043952 40043952 + Silent SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 20 40043952 40043952 C T SNP CHD6 ENST00000373233 human ensembl 69_37n -1 known silent c.6813 p.Q2271 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 78 0 0.00 69 8 10.39 - - - CNTNAP4 0 genome.wustl.edu 37 16 76482725 76482725 + Missense_Mutation SNP T T G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 16 76482725 76482725 T G SNP CNTNAP4 ENST00000307431 human ensembl 69_37n +1 known missense c.801 p.D267E 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 127 0 0.00 62 19 23.46 - - - CNTNAP4 0 genome.wustl.edu 37 16 76555164 76555164 + Silent SNP A A G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 16 76555164 76555164 A G SNP CNTNAP4 ENST00000307431 human ensembl 69_37n +1 known silent c.2490 p.L830 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 117 0 0.00 100 31 23.66 - - - COL6A5 0 genome.wustl.edu 37 3 130110337 130110337 + Missense_Mutation SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 3 130110337 130110337 G A SNP COL6A5 ENST00000265379 human ensembl 69_37n +1 known missense c.2732 p.R911H 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 35 0 0.00 31 9 22.50 - - - CSMD1 0 genome.wustl.edu 37 8 2813173 2813173 + Missense_Mutation SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 8 2813173 2813173 C T SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.9935 p.G3312E 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 85 0 0.00 37 29 43.94 - - - CXCR7 0 genome.wustl.edu 37 2 237489606 237489606 + Silent SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 2 237489606 237489606 C T SNP CXCR7 ENST00000272928 human ensembl 69_37n +1 known silent c.498 p.I166 0.053 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_RDC1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Frt_met_rcpt - no_errors CXCR7 HGNC ENSG00000144476 51 0 0.00 33 9 21.43 - - - CXorf40A 0 genome.wustl.edu 37 X 148627223 148627223 + Missense_Mutation SNP T T A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae X 148627223 148627223 T A SNP CXorf40A ENST00000359293 human ensembl 69_37n +1 known missense c.47 p.V16D 0.019 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40A HGNC ENSG00000197620 62 0 0.00 24 14 36.84 - - - DLGAP2 0 genome.wustl.edu 37 8 1581131 1581131 + Missense_Mutation SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 8 1581131 1581131 C A SNP DLGAP2 ENST00000421627 human ensembl 69_37n +1 known missense c.1489 p.Q497K 1.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 91 0 0.00 31 6 16.22 - - - DNAH7 0 genome.wustl.edu 37 2 196837175 196837175 + Missense_Mutation SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 2 196837175 196837175 C T SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known missense c.1849 p.V617M 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 82 0 0.00 90 18 16.67 - - - DNAJC16 0 genome.wustl.edu 37 1 15892576 15892576 + Splice_Site SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 15892576 15892576 G T SNP DNAJC16 ENST00000375847 human ensembl 69_37n +1 known splice_site c.1680-1 e12-1 1.000 - - - no_errors DNAJC16 HGNC ENSG00000116138 87 0 0.00 33 13 28.26 - - - DOK2 0 genome.wustl.edu 37 8 21767238 21767238 + Missense_Mutation SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 8 21767238 21767238 G A SNP DOK2 ENST00000276420 human ensembl 69_37n -1 known missense c.823 p.H275Y 0.998 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK2 HGNC ENSG00000147443 52 0 0.00 37 10 21.28 - - - DQX1 0 genome.wustl.edu 37 2 74750598 74750598 + Missense_Mutation SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 2 74750598 74750598 G T SNP DQX1 ENST00000393951 human ensembl 69_37n -1 known missense c.883 p.P295T 0.012 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 33 0 0.00 20 25 55.56 - - - DTX2P1-UPK3BP1-PMS2P11 0 genome.wustl.edu 37 7 76631515 76631515 + RNA SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 7 76631515 76631515 G A SNP DTX2P1-UPK3BP1-PMS2P11 ENST00000579700 human ensembl 69_37n +1 known rna NULL NULL 0.111 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC ENSG00000265479 31 0 0.00 18 4 18.18 - - - DUSP10 0 genome.wustl.edu 37 1 221912294 221912294 + Frame_Shift_Del DEL C C - TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 221912294 221912294 C - DEL DUSP10 ENST00000366899 human ensembl 69_37n -1 known frame_shift_del c.793 p.E265fs 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 94 0 0.00 98 13 11.50 - - - EFS 0 genome.wustl.edu 37 14 23829243 23829243 + Silent SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 14 23829243 23829243 G A SNP EFS ENST00000216733 human ensembl 69_37n -1 known silent c.444 p.Y148 0.985 NULL pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors EFS HGNC ENSG00000100842 28 0 0.00 7 5 41.67 - - - ELL2 0 genome.wustl.edu 37 5 95234001 95234001 + Missense_Mutation SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 5 95234001 95234001 G T SNP ELL2 ENST00000237853 human ensembl 69_37n -1 known missense c.1468 p.L490I 0.999 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 82 0 0.00 58 21 26.58 - - - ENSG00000254553 0 genome.wustl.edu 37 1 32946500 32946500 + Missense_Mutation SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 32946500 32946500 C A SNP ENSG00000254553 ENST00000480336 human ensembl 69_37n +1 known missense c.1000 p.L334M 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors RP1-27O5.3 Clone_based_vega_gene ENSG00000254553 74 0 0.00 11 14 56.00 - - - EPHA3 0 genome.wustl.edu 37 3 89390198 89390198 + Missense_Mutation SNP A A T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 3 89390198 89390198 A T SNP EPHA3 ENST00000336596 human ensembl 69_37n +1 known missense c.947 p.D316V 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA3 HGNC ENSG00000044524 68 0 0.00 54 13 19.40 - - - EPHB2 0 genome.wustl.edu 37 1 23237037 23237037 + Missense_Mutation SNP A A G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 23237037 23237037 A G SNP EPHB2 ENST00000400191 human ensembl 69_37n +1 known missense c.2665 p.S889G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 30 0 0.00 10 11 52.38 - - - EXPH5 0 genome.wustl.edu 37 11 108380564 108380564 + Silent SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 11 108380564 108380564 C A SNP EXPH5 ENST00000265843 human ensembl 69_37n -1 known silent c.5670 p.G1890 1.000 NULL superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors EXPH5 HGNC ENSG00000110723 44 0 0.00 27 9 25.00 - - - FAT3 0 genome.wustl.edu 37 11 92577403 92577403 + Missense_Mutation SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 11 92577403 92577403 G T SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known missense c.10870 p.D3624Y 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 39 0 0.00 24 8 25.00 - - - FBLN2 0 genome.wustl.edu 37 3 13669464 13669464 + Missense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 3 13669464 13669464 G C SNP FBLN2 ENST00000404922 human ensembl 69_37n +1 known missense c.2564 p.C855S 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EGF-like,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 35 0 0.00 32 4 11.11 - - - FBN1 0 genome.wustl.edu 37 15 48736765 48736765 + Missense_Mutation SNP A A G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 15 48736765 48736765 A G SNP FBN1 ENST00000316623 human ensembl 69_37n -1 known missense c.6010 p.Y2004H 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 74 0 0.00 35 19 35.19 - - - FBXW10 0 genome.wustl.edu 37 17 18681814 18681814 + Missense_Mutation SNP C C G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 17 18681814 18681814 C G SNP FBXW10 ENST00000308799 human ensembl 69_37n +1 known missense c.2389 p.Q797E 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW10 HGNC ENSG00000171931 52 0 0.00 30 4 11.76 - - - FLG 0 genome.wustl.edu 37 1 152279942 152279942 + Missense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 152279942 152279942 G C SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.7420 p.Q2474E 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 175 0 0.00 122 38 23.75 - - - FST 0 genome.wustl.edu 37 5 52779551 52779551 + Missense_Mutation SNP A A C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 5 52779551 52779551 A C SNP FST ENST00000256759 human ensembl 69_37n +1 known missense c.495 p.K165N 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Prot_inh_Kazal - no_errors FST HGNC ENSG00000134363 17 0 0.00 15 4 21.05 - - - GALNTL4 0 genome.wustl.edu 37 11 11454295 11454295 + Silent SNP C C G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 11 11454295 11454295 C G SNP GALNTL4 ENST00000227756 human ensembl 69_37n -1 known silent c.468 p.V156 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL4 HGNC ENSG00000110328 66 0 0.00 16 7 30.43 - - - GINS4 0 genome.wustl.edu 37 8 41397271 41397271 + Silent SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 8 41397271 41397271 G T SNP GINS4 ENST00000276533 human ensembl 69_37n +1 known silent c.372 p.P124 0.674 pfam_GINS_complex,pirsf_GINS_Sld5 pfam_GINS_complex,pirsf_GINS_Sld5 - no_errors GINS4 HGNC ENSG00000147536 47 0 0.00 28 12 30.00 - - - GPRC6A 0 genome.wustl.edu 37 6 117130674 117130674 + Missense_Mutation SNP C C G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 6 117130674 117130674 C G SNP GPRC6A ENST00000310357 human ensembl 69_37n -1 known missense c.301 p.D101H 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 86 0 0.00 81 18 18.18 - - - HCN4 0 genome.wustl.edu 37 15 73615583 73615583 + Missense_Mutation SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 15 73615583 73615583 C A SNP HCN4 ENST00000261917 human ensembl 69_37n -1 known missense c.2851 p.G951C 0.003 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 16 0 0.00 5 4 44.44 - - - HIP1 0 genome.wustl.edu 37 7 75192287 75192287 + Silent SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 7 75192287 75192287 C T SNP HIP1 ENST00000336926 human ensembl 69_37n -1 known silent c.972 p.E324 1.000 NULL pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1 HGNC ENSG00000127946 58 0 0.00 33 15 31.25 - - - KCNH1 0 genome.wustl.edu 37 1 210856854 210856854 + Silent SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 210856854 210856854 C T SNP KCNH1 ENST00000271751 human ensembl 69_37n -1 known silent c.2739 p.S913 0.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 42 0 0.00 18 8 30.77 - - - KDM4E 0 genome.wustl.edu 37 11 94760221 94760221 + Silent SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 11 94760221 94760221 G A SNP KDM4E ENST00000450979 human ensembl 69_37n +1 known silent c.1500 p.L500 0.001 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC ENSG00000235268 32 0 0.00 21 8 27.59 - - - KDM6A 0 genome.wustl.edu 37 X 44969495 44969495 + Splice_Site SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae X 44969495 44969495 G C SNP KDM6A ENST00000382899 human ensembl 69_37n +1 known splice_site c.4197+1 e28+1 1.000 - - - no_errors KDM6A HGNC ENSG00000147050 68 0 0.00 31 17 35.42 - - - KIAA1211 0 genome.wustl.edu 37 4 57182104 57182104 + Silent SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 4 57182104 57182104 C A SNP KIAA1211 ENST00000504228 human ensembl 69_37n +1 known silent c.2436 p.A812 0.118 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 31 0 0.00 10 19 65.52 - - - KIR3DL2 0 genome.wustl.edu 37 19 55377364 55377364 + Missense_Mutation SNP A A T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 19 55377364 55377364 A T SNP KIR3DL2 ENST00000326321 human ensembl 69_37n +1 known missense c.1105 p.N369Y 0.183 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL2 HGNC ENSG00000240403 298 1 0.33 154 168 52.17 - - - KLF17 0 genome.wustl.edu 37 1 44595381 44595381 + Silent SNP C C G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 44595381 44595381 C G SNP KLF17 ENST00000372299 human ensembl 69_37n +1 known silent c.438 p.P146 0.007 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF17 HGNC ENSG00000171872 21 0 0.00 12 9 42.86 - - - KSR2 0 genome.wustl.edu 37 12 117968803 117968803 + Frame_Shift_Del DEL G G - TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 12 117968803 117968803 G - DEL KSR2 ENST00000339824 human ensembl 69_37n -1 known frame_shift_del c.1745 p.P582fs 0.998 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors KSR2 HGNC ENSG00000171435 27 0 0.00 30 10 25.00 - - - LMX1B 0 genome.wustl.edu 37 9 129455805 129455805 + Silent SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 9 129455805 129455805 C A SNP LMX1B ENST00000355497 human ensembl 69_37n +1 known silent c.744 p.V248 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LMX1B HGNC ENSG00000136944 45 0 0.00 17 4 19.05 - - - LRP8 0 genome.wustl.edu 37 1 53723024 53723024 + Missense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 53723024 53723024 G C SNP LRP8 ENST00000306052 human ensembl 69_37n -1 known missense c.2322 p.S774R 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP8 HGNC ENSG00000157193 267 0 0.00 254 93 26.80 - - - LY9 0 genome.wustl.edu 37 1 160769623 160769623 + Missense_Mutation SNP A A C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 160769623 160769623 A C SNP LY9 ENST00000263285 human ensembl 69_37n +1 known missense c.205 p.I69L 0.004 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like - no_errors LY9 HGNC ENSG00000122224 42 0 0.00 31 13 29.55 - - - MAP1A 0 genome.wustl.edu 37 15 43818417 43818417 + Missense_Mutation SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 15 43818417 43818417 G T SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known missense c.4746 p.E1582D 0.369 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 33 0 0.00 16 7 30.43 - - - MAPK10 0 genome.wustl.edu 37 4 87022223 87022223 + Missense_Mutation SNP T T A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 4 87022223 87022223 T A SNP MAPK10 ENST00000359221 human ensembl 69_37n -1 known missense c.712 p.M238L 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,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK10 HGNC ENSG00000109339 54 0 0.00 21 20 48.78 - - - MBTPS1 0 genome.wustl.edu 37 16 84101990 84101990 + Silent SNP T T A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 16 84101990 84101990 T A SNP MBTPS1 ENST00000343411 human ensembl 69_37n -1 known silent c.2025 p.V675 0.091 NULL pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 44 0 0.00 26 5 16.13 - - - MED12L 0 genome.wustl.edu 37 3 150840683 150840683 + Silent SNP T T A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 3 150840683 150840683 T A SNP MED12L ENST00000474524 human ensembl 69_37n +1 known silent c.318 p.T106 0.951 pfam_Mediator_Med12 pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 100 0 0.00 99 20 16.67 - - - MFSD9 0 genome.wustl.edu 37 2 103335116 103335116 + Silent SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 2 103335116 103335116 C A SNP MFSD9 ENST00000258436 human ensembl 69_37n -1 known silent c.1188 p.T396 0.010 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG,pfscan_MFS_dom - no_errors MFSD9 HGNC ENSG00000135953 25 0 0.00 16 8 33.33 - - - MIR320C2 0 genome.wustl.edu 37 18 21901679 21901679 + RNA SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 18 21901679 21901679 G C SNP MIR320C2 ENST00000390762 human ensembl 69_37n +1 known rna NULL NULL 0.451 - - - no_errors MIR320C2 HGNC ENSG00000212051 67 0 0.00 71 28 28.28 - - - MRAP2 0 genome.wustl.edu 37 6 84798939 84798939 + Silent SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 6 84798939 84798939 C T SNP MRAP2 ENST00000257776 human ensembl 69_37n +1 known silent c.357 p.Y119 1.000 NULL NULL - no_errors MRAP2 HGNC ENSG00000135324 68 0 0.00 53 7 11.67 - - - MRPS2 0 genome.wustl.edu 37 9 138395757 138395757 + Silent SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 9 138395757 138395757 G T SNP MRPS2 ENST00000241600 human ensembl 69_37n +1 known silent c.669 p.V223 1.000 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 - no_errors MRPS2 HGNC ENSG00000122140 47 0 0.00 32 6 15.79 - - - MUC2 0 genome.wustl.edu 37 11 1097877 1097877 + Missense_Mutation SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 11 1097877 1097877 G T SNP MUC2 ENST00000441003 human ensembl 69_37n +1 known missense c.6970 p.D2324Y 0.000 smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 56 0 0.00 23 8 25.81 - - - MYH2 0 genome.wustl.edu 37 17 10424654 10424654 + Silent SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 17 10424654 10424654 C T SNP MYH2 ENST00000245503 human ensembl 69_37n -1 known silent c.5769 p.V1923 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 106 0 0.00 121 26 17.69 - - - NBEA 0 genome.wustl.edu 37 13 36229093 36229093 + Missense_Mutation SNP A A T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 13 36229093 36229093 A T SNP NBEA ENST00000310336 human ensembl 69_37n +1 known missense c.8074 p.I2692F 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 73 0 0.00 15 16 51.61 - - - NCAPH 0 genome.wustl.edu 37 2 97025913 97025913 + Missense_Mutation SNP A A G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 2 97025913 97025913 A G SNP NCAPH ENST00000240423 human ensembl 69_37n +1 known missense c.1390 p.K464E 1.000 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 49 0 0.00 75 13 14.77 - - - NDUFB5 0 genome.wustl.edu 37 3 179341750 179341750 + Missense_Mutation SNP A A G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 3 179341750 179341750 A G SNP NDUFB5 ENST00000471112 human ensembl 69_37n +1 putative missense c.148 p.R50G 0.346 NULL pfam_NADH_UbQ_OxRdtase_B5_su - no_start_codon NDUFB5 HGNC ENSG00000136521 98 0 0.00 85 19 18.27 - - - NOL6 0 genome.wustl.edu 37 9 33466362 33466362 + Missense_Mutation SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 9 33466362 33466362 G A SNP NOL6 ENST00000297990 human ensembl 69_37n -1 known missense c.2153 p.S718F 0.010 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 45 0 0.00 32 10 23.81 - - - NOL6 0 genome.wustl.edu 37 9 33467129 33467129 + Silent SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 9 33467129 33467129 G A SNP NOL6 ENST00000297990 human ensembl 69_37n -1 known silent c.1857 p.V619 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 65 0 0.00 57 8 12.31 - - - NOL6 0 genome.wustl.edu 37 9 33467240 33467240 + Silent SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 9 33467240 33467240 G A SNP NOL6 ENST00000297990 human ensembl 69_37n -1 known silent c.1746 p.F582 0.997 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 37 0 0.00 31 8 20.51 - - - NOL6 0 genome.wustl.edu 37 9 33469547 33469547 + Missense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 9 33469547 33469547 G C SNP NOL6 ENST00000297990 human ensembl 69_37n -1 known missense c.677 p.S226C 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 94 0 0.00 52 10 16.13 - - - OR13C9 0 genome.wustl.edu 37 9 107379682 107379682 + Silent SNP A A C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 9 107379682 107379682 A C SNP OR13C9 ENST00000259362 human ensembl 69_37n -1 known silent c.804 p.L268 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR13C9 HGNC ENSG00000136839 116 1 0.85 59 23 28.05 - - - ORMDL1 0 genome.wustl.edu 37 2 190647150 190647150 + Missense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 2 190647150 190647150 G C SNP ORMDL1 ENST00000325795 human ensembl 69_37n -1 known missense c.172 p.L58V 0.999 pfam_ORMDL,pirsf_ORMDL pfam_ORMDL,pirsf_ORMDL - no_errors ORMDL1 HGNC ENSG00000128699 34 0 0.00 50 6 10.71 - - - OSBPL3 0 genome.wustl.edu 37 7 24843951 24843951 + Missense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 7 24843951 24843951 G C SNP OSBPL3 ENST00000313367 human ensembl 69_37n -1 known missense c.2550 p.H850Q 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 132 0 0.00 85 16 15.84 - - - PABPC4L 0 genome.wustl.edu 37 4 135122010 135122010 + Nonsense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 4 135122010 135122010 G C SNP PABPC4L ENST00000529122 human ensembl 69_37n -1 known nonsense c.339 p.Y113* 0.995 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4L HGNC ENSG00000254535 54 0 0.00 28 4 12.50 - - - PAPPA2 0 genome.wustl.edu 37 1 176769269 176769269 + Splice_Site SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 176769269 176769269 G C SNP PAPPA2 ENST00000367662 human ensembl 69_37n +1 known splice_site c.5202+1 e20+1 1.000 - - - no_errors PAPPA2 HGNC ENSG00000116183 66 0 0.00 36 24 40.00 - - - PAXIP1 0 genome.wustl.edu 37 7 154754122 154754122 + Missense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 7 154754122 154754122 G C SNP PAXIP1 ENST00000397192 human ensembl 69_37n -1 known missense c.2036 p.T679R 0.247 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 147 0 0.00 62 36 36.73 - - - PCDH15 0 genome.wustl.edu 37 10 55826581 55826581 + Missense_Mutation SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 10 55826581 55826581 G A SNP PCDH15 ENST00000320301 human ensembl 69_37n -1 known missense c.2156 p.P719L 0.984 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 81 0 0.00 32 31 49.21 - - - PHF8 0 genome.wustl.edu 37 X 54020123 54020123 + Missense_Mutation SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae X 54020123 54020123 C T SNP PHF8 ENST00000357988 human ensembl 69_37n -1 known missense c.1645 p.A549T 0.998 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 82 0 0.00 27 7 20.59 - - - PHKA2 0 genome.wustl.edu 37 X 18961827 18961827 + Splice_Site SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae X 18961827 18961827 C T SNP PHKA2 ENST00000379942 human ensembl 69_37n -1 known splice_site c.717+1 e7+1 1.000 - - - no_errors PHKA2 HGNC ENSG00000044446 56 0 0.00 13 9 40.91 - - - PKDREJ 0 genome.wustl.edu 37 22 46653339 46653339 + Missense_Mutation SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 22 46653339 46653339 C A SNP PKDREJ ENST00000253255 human ensembl 69_37n -1 known missense c.5881 p.A1961S 0.000 pfam_PKD1_2_channel pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 48 0 0.00 40 23 36.51 - - - PLAUR 0 genome.wustl.edu 37 19 44169580 44169580 + Missense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 19 44169580 44169580 G C SNP PLAUR ENST00000340093 human ensembl 69_37n -1 known missense c.198 p.S66R 0.985 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors PLAUR HGNC ENSG00000011422 112 0 0.00 78 16 17.02 - - - PLCD4 0 genome.wustl.edu 37 2 219496970 219496970 + Missense_Mutation SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 2 219496970 219496970 G A SNP PLCD4 ENST00000417849 human ensembl 69_37n +1 known missense c.1384 p.E462K 0.002 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD4 HGNC ENSG00000115556 48 0 0.00 31 4 11.43 - - - PPP1R13B 0 genome.wustl.edu 37 14 104208267 104208267 + Missense_Mutation SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 14 104208267 104208267 C A SNP PPP1R13B ENST00000202556 human ensembl 69_37n -1 known missense c.1682 p.G561V 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 106 0 0.00 67 28 29.47 - - - PRAMEF1 0 genome.wustl.edu 37 1 12855745 12855745 + Missense_Mutation SNP C C G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 12855745 12855745 C G SNP PRAMEF1 ENST00000332296 human ensembl 69_37n +1 known missense c.1025 p.A342G 0.001 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 167 0 0.00 65 37 36.27 - - - PRIC285 0 genome.wustl.edu 37 20 62195294 62195294 + Missense_Mutation SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 20 62195294 62195294 C T SNP PRIC285 ENST00000467148 human ensembl 69_37n -1 known missense c.4881 p.M1627I 1.000 pfam_RNase_II/R,smart_RNase_II/R pfam_RNase_II/R,smart_RNase_II/R - no_errors RP4-697K14.7 Clone_based_vega_gene ENSG00000130589 35 0 0.00 23 6 20.69 - - - PRKACG 0 genome.wustl.edu 37 9 71628311 71628311 + Missense_Mutation SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 9 71628311 71628311 G T SNP PRKACG ENST00000377276 human ensembl 69_37n -1 known missense c.698 p.A233D 0.954 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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_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,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 40 0 0.00 32 14 30.43 - - - PRKCQ 0 genome.wustl.edu 37 10 6504320 6504320 + Missense_Mutation SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 10 6504320 6504320 C T SNP PRKCQ ENST00000263125 human ensembl 69_37n -1 known missense c.1453 p.A485T 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_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 57 0 0.00 20 6 23.08 - - - PRUNE2 0 genome.wustl.edu 37 9 79324308 79324308 + Missense_Mutation SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 9 79324308 79324308 G T SNP PRUNE2 ENST00000428286 human ensembl 69_37n -1 known missense c.1805 p.S602Y 1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 91 0 0.00 89 15 14.42 - - - PRUNE2 0 genome.wustl.edu 37 9 79325223 79325223 + Missense_Mutation SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 9 79325223 79325223 C A SNP PRUNE2 ENST00000428286 human ensembl 69_37n -1 known missense c.890 p.W297L 1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 70 0 0.00 56 45 44.55 - - - PSG1 0 genome.wustl.edu 37 19 43373177 43373177 + Missense_Mutation SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 19 43373177 43373177 G T SNP PSG1 ENST00000312439 human ensembl 69_37n -1 known missense c.719 p.P240H 0.016 pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG1 HGNC ENSG00000231924 188 0 0.00 195 46 19.09 - - - PTEN 0 genome.wustl.edu 37 10 89692883 89692883 + Missense_Mutation SNP C C G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 10 89692883 89692883 C G SNP PTEN ENST00000371953 human ensembl 69_37n +1 known missense c.367 p.H123D 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 79 0 0.00 54 15 21.74 - - - PTPN4 0 genome.wustl.edu 37 2 120640129 120640129 + Missense_Mutation SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 2 120640129 120640129 G A SNP PTPN4 ENST00000263708 human ensembl 69_37n +1 known missense c.517 p.D173N 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors PTPN4 HGNC ENSG00000088179 36 0 0.00 21 21 50.00 - - - QSER1 0 genome.wustl.edu 37 11 32955888 32955888 + Silent SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 11 32955888 32955888 G A SNP QSER1 ENST00000399302 human ensembl 69_37n +1 known silent c.2697 p.V899 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 35 0 0.00 15 14 48.28 - - - RAG1 0 genome.wustl.edu 37 11 36596585 36596585 + Silent SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 11 36596585 36596585 C T SNP RAG1 ENST00000299440 human ensembl 69_37n +1 known silent c.1731 p.I577 0.983 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 68 0 0.00 16 23 58.97 - - - RAPGEF2 0 genome.wustl.edu 37 4 160252682 160252682 + Nonsense_Mutation SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 4 160252682 160252682 G T SNP RAPGEF2 ENST00000264431 human ensembl 69_37n +1 known nonsense c.1084 p.E362* 1.000 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 52 0 0.00 42 10 19.23 - - - RECQL5 0 genome.wustl.edu 37 17 73625808 73625808 + Missense_Mutation SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 17 73625808 73625808 G A SNP RECQL5 ENST00000317905 human ensembl 69_37n -1 known missense c.1927 p.P643S 0.021 pfam_RecQ_helicase-like_5 pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 46 0 0.00 31 15 32.61 - - - RELN 0 genome.wustl.edu 37 7 103197424 103197424 + Missense_Mutation SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 7 103197424 103197424 C A SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.5797 p.G1933C 1.000 superfamily_Neuraminidase 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 126 0 0.00 123 48 28.07 - - - RGS1 0 genome.wustl.edu 37 1 192545958 192545958 + Silent SNP C C G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 192545958 192545958 C G SNP RGS1 ENST00000367459 human ensembl 69_37n +1 known silent c.273 p.A91 0.322 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,prints_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,prints_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS1 HGNC ENSG00000090104 87 0 0.00 92 21 18.58 - - - RUNX1 0 genome.wustl.edu 37 21 36164864 36164864 + Silent SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 21 36164864 36164864 G A SNP RUNX1 ENST00000300305 human ensembl 69_37n -1 known silent c.1011 p.P337 0.060 pirsf_TF_Runt-rel_RUNX 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 21 0 0.00 3 7 70.00 - - - RUNX2 0 genome.wustl.edu 37 6 45514594 45514594 + Missense_Mutation SNP C C G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 6 45514594 45514594 C G SNP RUNX2 ENST00000352853 human ensembl 69_37n +1 known missense c.1322 p.P441R 1.000 NULL pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 73 0 0.00 57 40 41.24 - - - SAFB 0 genome.wustl.edu 37 19 5654079 5654079 + Missense_Mutation SNP A A G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 19 5654079 5654079 A G SNP SAFB ENST00000588852 human ensembl 69_37n +1 known missense c.1534 p.N512D 0.014 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 52 0 0.00 17 36 67.92 - - - SCN2A 0 genome.wustl.edu 37 2 166201118 166201118 + Missense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 2 166201118 166201118 G C SNP SCN2A ENST00000283256 human ensembl 69_37n +1 known missense c.2616 p.K872N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 70 0 0.00 53 11 17.19 - - - SCN7A 0 genome.wustl.edu 37 2 167285716 167285716 + Missense_Mutation SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 2 167285716 167285716 C T SNP SCN7A ENST00000409855 human ensembl 69_37n -1 known missense c.2661 p.M887I 0.145 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 69 0 0.00 77 23 23.00 - - - SIRT7 0 genome.wustl.edu 37 17 79870419 79870419 + Missense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 17 79870419 79870419 G C SNP SIRT7 ENST00000328666 human ensembl 69_37n -1 known missense c.1076 p.S359W 0.288 NULL pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin - no_errors SIRT7 HGNC ENSG00000187531 65 0 0.00 55 9 14.06 - - - SLC35F4 0 genome.wustl.edu 37 14 58056019 58056019 + Missense_Mutation SNP T T G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 14 58056019 58056019 T G SNP SLC35F4 ENST00000339762 human ensembl 69_37n -1 known missense c.610 p.N204H 1.000 NULL pfam_DMT,pfam_DUF914_euk - no_errors SLC35F4 HGNC ENSG00000151812 84 0 0.00 38 23 37.70 - - - SLC44A5 0 genome.wustl.edu 37 1 75693410 75693410 + Splice_Site SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 75693410 75693410 C T SNP SLC44A5 ENST00000370855 human ensembl 69_37n -1 known splice_site c.985+1 e12+1 1.000 - - - no_errors SLC44A5 HGNC ENSG00000137968 80 0 0.00 23 34 59.65 - - - SLFN14 0 genome.wustl.edu 37 17 33884375 33884375 + Missense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 17 33884375 33884375 G C SNP SLFN14 ENST00000415846 human ensembl 69_37n -1 known missense c.707 p.A236G 1.000 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4 - no_errors SLFN14 HGNC ENSG00000236320 77 0 0.00 37 18 32.73 - - - SPAM1 0 genome.wustl.edu 37 7 123594195 123594195 + Missense_Mutation SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 7 123594195 123594195 G A SNP SPAM1 ENST00000340011 human ensembl 69_37n +1 known missense c.571 p.E191K 0.054 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Glyco_hydro_56_PH20,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 53 0 0.00 30 26 46.43 - - - SPATA5L1 0 genome.wustl.edu 37 15 45707816 45707816 + Nonsense_Mutation SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 15 45707816 45707816 C T SNP SPATA5L1 ENST00000531624 human ensembl 69_37n +1 novel nonsense c.190 p.Q64* 1.000 pfam_ATPase_AAA_core pfam_ATPase_AAA_core - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SPATA5L1 HGNC ENSG00000171763 42 0 0.00 27 4 12.90 - - - SPTA1 0 genome.wustl.edu 37 1 158612286 158612286 + Missense_Mutation SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 158612286 158612286 C T SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.4652 p.R1551Q 0.796 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 70 0 0.00 44 10 18.52 - - - SRRT 0 genome.wustl.edu 37 7 100484569 100484569 + Missense_Mutation SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 7 100484569 100484569 C T SNP SRRT ENST00000388793 human ensembl 69_37n +1 known missense c.1798 p.R600W 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 70 0 0.00 47 10 17.24 - - - SSTR2 0 genome.wustl.edu 37 17 71165749 71165749 + Silent SNP T T A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 17 71165749 71165749 T A SNP SSTR2 ENST00000357585 human ensembl 69_37n +1 known silent c.291 p.P97 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt_2,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_5 - no_errors SSTR2 HGNC ENSG00000180616 110 1 0.90 70 34 32.69 - - - STARD13 0 genome.wustl.edu 37 13 33739512 33739512 + Silent SNP A A G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 13 33739512 33739512 A G SNP STARD13 ENST00000336934 human ensembl 69_37n -1 known silent c.285 p.H95 1.000 pfam_SAM_2,superfamily_SAM/pointed pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 68 0 0.00 26 6 18.75 - - - SYNE1 0 genome.wustl.edu 37 6 152527416 152527416 + Missense_Mutation SNP C C G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 6 152527416 152527416 C G SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.22906 p.D7636H 0.999 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 86 0 0.00 42 26 38.24 - - - TBC1D8B 0 genome.wustl.edu 37 X 106097454 106097454 + Missense_Mutation SNP T T G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae X 106097454 106097454 T G SNP TBC1D8B ENST00000357242 human ensembl 69_37n +1 known missense c.2280 p.D760E 0.999 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 56 0 0.00 27 18 40.00 - - - TDRD6 0 genome.wustl.edu 37 6 46657757 46657757 + Missense_Mutation SNP T T G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 6 46657757 46657757 T G SNP TDRD6 ENST00000316081 human ensembl 69_37n +1 known missense c.1892 p.I631S 0.980 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 37 0 0.00 30 23 43.40 - - - TEFM 0 genome.wustl.edu 37 17 29226268 29226268 + Silent SNP T T C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 17 29226268 29226268 T C SNP TEFM ENST00000581216 human ensembl 69_37n -1 known silent c.1002 p.L334 0.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors TEFM HGNC ENSG00000172171 53 0 0.00 30 8 21.05 - - - TIA1 0 genome.wustl.edu 37 2 70442526 70442526 + Missense_Mutation SNP C C G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 2 70442526 70442526 C G SNP TIA1 ENST00000433529 human ensembl 69_37n -1 known missense c.865 p.D289H 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIA1 HGNC ENSG00000116001 66 0 0.00 99 23 18.85 - - - TOP1 0 genome.wustl.edu 37 20 39751880 39751880 + Silent SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 20 39751880 39751880 C A SNP TOP1 ENST00000361337 human ensembl 69_37n +1 known silent c.2241 p.T747 1.000 superfamily_DNA_brk_join_enz pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,superfamily_TopoI_insert_euk,smart_TopoI_euk,prints_TopoI - no_errors TOP1 HGNC ENSG00000198900 77 0 0.00 49 29 37.18 - - - TTLL6 0 genome.wustl.edu 37 17 46882267 46882267 + Missense_Mutation SNP C C T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 17 46882267 46882267 C T SNP TTLL6 ENST00000393382 human ensembl 69_37n -1 known missense c.190 p.E64K 0.122 NULL pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC ENSG00000170703 141 0 0.00 38 54 58.70 - - - UBE4B 0 genome.wustl.edu 37 1 10177641 10177642 + Frame_Shift_Ins INS - - A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 10177641 10177642 - A INS UBE4B ENST00000343090 human ensembl 69_37n +1 known frame_shift_ins c.1321_1322 p.A444fs 1.000:1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 48 0 0.00 24 3 11.11 - - - UNC5D 0 genome.wustl.edu 37 8 35606156 35606156 + Silent SNP C C G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 8 35606156 35606156 C G SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known silent c.1878 p.V626 0.997 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 68 0 0.00 31 26 45.61 - - - USH1G 0 genome.wustl.edu 37 17 72916079 72916079 + Silent SNP G G A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 17 72916079 72916079 G A SNP USH1G ENST00000319642 human ensembl 69_37n -1 known silent c.852 p.S284 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 17 0 0.00 8 20 71.43 - - - VPS13A 0 genome.wustl.edu 37 9 79834980 79834980 + Missense_Mutation SNP G G C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 9 79834980 79834980 G C SNP VPS13A ENST00000360280 human ensembl 69_37n +1 known missense c.865 p.E289Q 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 66 0 0.00 49 13 20.97 - - - VSIG4 0 genome.wustl.edu 37 X 65253420 65253420 + Missense_Mutation SNP A A T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae X 65253420 65253420 A T SNP VSIG4 ENST00000374737 human ensembl 69_37n -1 known missense c.308 p.L103Q 0.684 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors VSIG4 HGNC ENSG00000155659 77 0 0.00 30 7 18.92 - - - WDR64 0 genome.wustl.edu 37 1 241959652 241959652 + Missense_Mutation SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 1 241959652 241959652 G T SNP WDR64 ENST00000366552 human ensembl 69_37n +1 known missense c.3142 p.G1048C 0.200 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 57 0 0.00 65 27 29.35 - - - ZBBX 0 genome.wustl.edu 37 3 167000239 167000239 + Missense_Mutation SNP T T C TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 3 167000239 167000239 T C SNP ZBBX ENST00000307529 human ensembl 69_37n -1 known missense c.2041 p.N681D 0.018 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 49 0 0.00 63 11 14.86 - - - ZBTB4 0 genome.wustl.edu 37 17 7366443 7366443 + Nonsense_Mutation SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 17 7366443 7366443 C A SNP ZBTB4 ENST00000311403 human ensembl 69_37n -1 known nonsense c.1858 p.E620* 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 ZBTB4 HGNC ENSG00000174282 37 0 0.00 28 12 30.00 - - - ZNF541 0 genome.wustl.edu 37 19 48058965 48058965 + Missense_Mutation SNP C C G TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 19 48058965 48058965 C G SNP ZNF541 ENST00000314121 human ensembl 69_37n -1 known missense c.149 p.S50T 0.761 NULL pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors ZNF541 HGNC ENSG00000118156 53 0 0.00 27 6 18.18 - - - ZNF592 0 genome.wustl.edu 37 15 85326113 85326113 + Silent SNP T T A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 15 85326113 85326113 T A SNP ZNF592 ENST00000299927 human ensembl 69_37n +1 known silent c.207 p.I69 0.954 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 45 0 0.00 41 9 18.00 - - - ZNF610 0 genome.wustl.edu 37 19 52869627 52869627 + Silent SNP C C A TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 19 52869627 52869627 C A SNP ZNF610 ENST00000327920 human ensembl 69_37n +1 known silent c.996 p.T332 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF610 HGNC ENSG00000167554 44 0 0.00 48 16 25.00 - - - ZNF808 0 genome.wustl.edu 37 19 53057483 53057483 + Missense_Mutation SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9d691f2-ad2a-4a3b-ae30-ed4af96d75f2 cc88b2b8-d0af-45be-9b32-7849fa97deae 19 53057483 53057483 G T SNP ZNF808 ENST00000487863 human ensembl 69_37n +1 known missense c.1107 p.Q369H 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF808 HGNC ENSG00000198482 48 0 0.00 46 7 13.21 - - -