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 ABCA12 0 genome.wustl.edu 37 2 215896643 215896643 + Silent SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 2 215896643 215896643 G A SNP ABCA12 ENST00000389661 human ensembl 69_37n -1 known silent c.9 p.T3 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 54 0 0.00 47 7 12.96 - - - ABCC12 0 genome.wustl.edu 37 16 48138177 48138177 + Missense_Mutation SNP G G T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 16 48138177 48138177 G T SNP ABCC12 ENST00000311303 human ensembl 69_37n -1 known missense c.2776 p.H926N 0.993 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 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 ABCC12 HGNC ENSG00000140798 53 0 0.00 53 11 17.19 - - - ACSM5 0 genome.wustl.edu 37 16 20442356 20442356 + Silent SNP T T A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 16 20442356 20442356 T A SNP ACSM5 ENST00000331849 human ensembl 69_37n +1 known silent c.1167 p.S389 0.991 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 92 0 0.00 84 18 17.65 - - - ADAM20 0 genome.wustl.edu 37 14 70990617 70990617 + Missense_Mutation SNP G G T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 14 70990617 70990617 G T SNP ADAM20 ENST00000256389 human ensembl 69_37n -1 known missense c.1008 p.N336K 0.000 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 17 0 0.00 13 5 27.78 - - - AHNAK 0 genome.wustl.edu 37 11 62288700 62288700 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 11 62288700 62288700 G A SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.13189 p.P4397S 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 96 0 0.00 111 31 21.83 - - - AIDA 0 genome.wustl.edu 37 1 222885594 222885594 + Silent SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 1 222885594 222885594 G A SNP AIDA ENST00000340020 human ensembl 69_37n -1 known silent c.66 p.F22 1.000 pfam_AIDA,superfamily_AIDA_N pfam_AIDA,superfamily_AIDA_N - no_errors AIDA HGNC ENSG00000186063 42 0 0.00 39 9 18.75 - - - AKAP13 0 genome.wustl.edu 37 15 86123427 86123427 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 15 86123427 86123427 G A SNP AKAP13 ENST00000361243 human ensembl 69_37n +1 known missense c.2128 p.E710K 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 40 0 0.00 30 12 28.57 - - - ARHGAP15 0 genome.wustl.edu 37 2 144381782 144381782 + Silent SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 2 144381782 144381782 C T SNP ARHGAP15 ENST00000295095 human ensembl 69_37n +1 known silent c.1084 p.L362 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 65 0 0.00 40 18 31.03 - - - ARHGAP44 0 genome.wustl.edu 37 17 12832350 12832350 + Missense_Mutation SNP T T G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 17 12832350 12832350 T G SNP ARHGAP44 ENST00000379672 human ensembl 69_37n +1 known missense c.569 p.V190G 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP44 HGNC ENSG00000006740 39 0 0.00 17 8 32.00 - - - ARHGAP9 0 genome.wustl.edu 37 12 57872469 57872469 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 12 57872469 57872469 C G SNP ARHGAP9 ENST00000356411 human ensembl 69_37n -1 known missense c.388 p.E130Q 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 37 0 0.00 25 10 28.57 - - - ARHGEF39 0 genome.wustl.edu 37 9 35663051 35663051 + Missense_Mutation SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 9 35663051 35663051 C T SNP ARHGEF39 ENST00000378387 human ensembl 69_37n -1 known missense c.565 p.E189K 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF39 HGNC ENSG00000137135 76 0 0.00 40 16 28.57 - - - ARID1A 0 genome.wustl.edu 37 1 27092809 27092809 + Nonsense_Mutation SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 1 27092809 27092809 C T SNP ARID1A ENST00000324856 human ensembl 69_37n +1 known nonsense c.2830 p.Q944* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 66 0 0.00 29 14 32.56 - - - BAI3 0 genome.wustl.edu 37 6 70071070 70071070 + Missense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 6 70071070 70071070 G C SNP BAI3 ENST00000370598 human ensembl 69_37n +1 known missense c.3905 p.R1302T 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 20 0 0.00 22 18 45.00 - - - BARX2 0 genome.wustl.edu 37 11 129312660 129312660 + Missense_Mutation SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 11 129312660 129312660 C T SNP BARX2 ENST00000531946 human ensembl 69_37n +1 putative missense c.53 p.A18V 0.001 smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_errors BARX2 HGNC ENSG00000043039 78 0 0.00 37 5 11.90 - - - BBS9 0 genome.wustl.edu 37 7 33573688 33573688 + Missense_Mutation SNP A A G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 7 33573688 33573688 A G SNP BBS9 ENST00000434373 human ensembl 69_37n +1 known missense c.1120 p.T374A 0.041 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BBS9 HGNC ENSG00000122507 49 0 0.00 38 6 13.64 - - - BCL11B 0 genome.wustl.edu 37 14 99723900 99723900 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 14 99723900 99723900 G A SNP BCL11B ENST00000357195 human ensembl 69_37n -1 known missense c.335 p.P112L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 94 0 0.00 62 13 17.33 - - - BCR 0 genome.wustl.edu 37 22 23658007 23658007 + RNA SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 22 23658007 23658007 G A SNP BCR ENST00000436990 human ensembl 69_37n +1 known rna NULL NULL 0.996 - - - no_errors BCR HGNC ENSG00000186716 25 0 0.00 21 4 16.00 - - - BORA 0 genome.wustl.edu 37 13 73318666 73318666 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 13 73318666 73318666 C G SNP BORA ENST00000390667 human ensembl 69_37n +1 known missense c.478 p.L160V 1.000 prints_Aurora_borealis_protien prints_Aurora_borealis_protien - no_errors BORA HGNC ENSG00000136122 59 0 0.00 45 23 33.82 - - - BRIP1 0 genome.wustl.edu 37 17 59885858 59885858 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 17 59885858 59885858 C G SNP BRIP1 ENST00000259008 human ensembl 69_37n -1 known missense c.888 p.E296D 1.000 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 21 0 0.00 32 8 20.00 - - - C16orf59 0 genome.wustl.edu 37 16 2510695 2510695 + Splice_Site SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 16 2510695 2510695 G C SNP C16orf59 ENST00000361837 human ensembl 69_37n +1 known splice_site c.196+1 e3+1 1.000 - - - no_errors C16orf59 HGNC ENSG00000162062 87 0 0 54 14 20.59 - - - C16orf59 0 genome.wustl.edu 37 16 2510695 2510695 + Splice_Site SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 16 2510695 2510695 G C SNP C16orf59 ENST00000361837 human ensembl 69_37n +1 known splice_site c.196+1 e3+1 1.000 - - - no_errors C16orf59 HGNC ENSG00000162062 87 0 0.00 54 14 20.59 - - - C1orf222 0 genome.wustl.edu 37 1 1861575 1861575 + Missense_Mutation SNP G G T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 1 1861575 1861575 G T SNP C1orf222 ENST00000493964 human ensembl 69_37n -1 putative missense c.1061 p.T354K 0.989 NULL superfamily_PapD-like - no_start_codon C1orf222 HGNC ENSG00000142609 76 0 0.00 25 5 16.67 - - - C9orf174 0 genome.wustl.edu 37 9 100085182 100085182 + Silent SNP G G T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 9 100085182 100085182 G T SNP C9orf174 ENST00000375202 human ensembl 69_37n +1 known silent c.1359 p.L453 0.842 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 80 0 0.00 58 16 21.62 - - - CACNA1E 0 genome.wustl.edu 37 1 181727244 181727244 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 1 181727244 181727244 G A SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known missense c.4491 p.M1497I 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 51 0 0.00 35 13 27.08 - - - CASP8AP2 0 genome.wustl.edu 37 6 90566808 90566808 + RNA SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 6 90566808 90566808 C T SNP CASP8AP2 ENST00000237177 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors CASP8AP2 HGNC ENSG00000118412 85 0 0.00 61 16 20.51 - - - CCDC136 0 genome.wustl.edu 37 7 128452016 128452016 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 7 128452016 128452016 C G SNP CCDC136 ENST00000297788 human ensembl 69_37n +1 known missense c.2191 p.Q731E 0.586 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 24 0 0.00 27 6 18.18 - - - CCDC154 0 genome.wustl.edu 37 16 1492430 1492430 + Missense_Mutation SNP C C A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 16 1492430 1492430 C A SNP CCDC154 ENST00000389176 human ensembl 69_37n -1 known missense c.652 p.D218Y 0.040 NULL NULL - no_errors CCDC154 HGNC ENSG00000197599 120 0 0.00 70 26 27.08 - - - CCDC159 0 genome.wustl.edu 37 19 11462756 11462756 + Missense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 19 11462756 11462756 G C SNP CCDC159 ENST00000458408 human ensembl 69_37n +1 known missense c.514 p.E172Q 0.935 NULL NULL - no_errors CCDC159 HGNC ENSG00000183401 49 0 0.00 39 14 26.42 - - - CCDC74B-AS1 0 genome.wustl.edu 37 2 130896959 130896959 + RNA SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 2 130896959 130896959 G C SNP CCDC74B-AS1 ENST00000427638 human ensembl 69_37n +1 known rna NULL NULL 0.764 - - - no_errors CCDC74B-AS1 HGNC ENSG00000223760 32 0 0.00 33 9 21.43 - - - CCR6 0 genome.wustl.edu 37 6 167550687 167550687 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 6 167550687 167550687 C G SNP CCR6 ENST00000341935 human ensembl 69_37n +1 known missense c.969 p.F323L 0.072 prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CCR6,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CXC/IL8_rcpt - no_errors CCR6 HGNC ENSG00000112486 46 0 0.00 31 13 29.55 - - - CELSR1 0 genome.wustl.edu 37 22 46760558 46760558 + Missense_Mutation SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 22 46760558 46760558 C T SNP CELSR1 ENST00000262738 human ensembl 69_37n -1 known missense c.8630 p.S2877N 0.001 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 34 0 0.00 35 8 18.60 - - - CENPE 0 genome.wustl.edu 37 4 104057412 104057412 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 4 104057412 104057412 C G SNP CENPE ENST00000265148 human ensembl 69_37n -1 known missense c.6408 p.M2136I 0.000 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 84 0 0.00 39 33 45.83 - - - CEP170 0 genome.wustl.edu 37 1 243333040 243333040 + Missense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 1 243333040 243333040 G C SNP CEP170 ENST00000366542 human ensembl 69_37n -1 known missense c.1733 p.S578C 0.995 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 54 0 0.00 57 8 12.31 - - - CHST1 0 genome.wustl.edu 37 11 45671789 45671789 + Missense_Mutation SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 11 45671789 45671789 C T SNP CHST1 ENST00000308064 human ensembl 69_37n -1 known missense c.685 p.V229I 1.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 78 0 0.00 35 9 20.45 - - - COASY 0 genome.wustl.edu 37 17 40714739 40714739 + Silent SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 17 40714739 40714739 G A SNP COASY ENST00000590958 human ensembl 69_37n +1 known silent c.186 p.V62 1.000 NULL pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 81 0 0.00 53 19 26.39 - - - COL22A1 0 genome.wustl.edu 37 8 139647307 139647307 + Splice_Site SNP C C A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 8 139647307 139647307 C A SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known splice_site c.3556-1 e48-1 1.000 - - - no_errors COL22A1 HGNC ENSG00000169436 34 0 0.00 44 15 25.42 - - - CRADD 0 genome.wustl.edu 37 12 94244020 94244020 + Silent SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 12 94244020 94244020 C G SNP CRADD ENST00000332896 human ensembl 69_37n +1 known silent c.573 p.P191 0.965 smart_Death pfam_CARD,pfam_Death,superfamily_DEATH-like,smart_CARD,smart_Death,pfscan_CARD,pfscan_Death - no_errors CRADD HGNC ENSG00000169372 29 0 0.00 16 5 23.81 - - - CXorf22 0 genome.wustl.edu 37 X 35993902 35993902 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 X 35993902 35993902 G A SNP CXorf22 ENST00000297866 human ensembl 69_37n +1 known missense c.2585 p.G862D 0.039 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 45 0 0.00 45 13 22.41 - - - CYP3A5 0 genome.wustl.edu 37 7 99250398 99250398 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 7 99250398 99250398 G A SNP CYP3A5 ENST00000222982 human ensembl 69_37n -1 known missense c.1031 p.P344L 0.002 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A5 HGNC ENSG00000106258 63 0 0.00 43 11 20.37 - - - DOCK3 0 genome.wustl.edu 37 3 51378757 51378757 + Missense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 3 51378757 51378757 G C SNP DOCK3 ENST00000266037 human ensembl 69_37n +1 known missense c.3856 p.E1286Q 1.000 NULL pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 68 0 0.00 27 11 28.95 - - - DOPEY1 0 genome.wustl.edu 37 6 83834448 83834448 + Missense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 6 83834448 83834448 G C SNP DOPEY1 ENST00000349129 human ensembl 69_37n +1 known missense c.1365 p.Q455H 0.995 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 44 0 0.00 49 9 15.52 - - - DSP 0 genome.wustl.edu 37 6 7567658 7567658 + Silent SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 6 7567658 7567658 G A SNP DSP ENST00000379802 human ensembl 69_37n +1 known silent c.1116 p.L372 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 56 0 0.00 58 17 22.67 - - - ENSG00000226232 0 genome.wustl.edu 37 16 70011737 70011737 + RNA SNP T T C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 16 70011737 70011737 T C SNP ENSG00000226232 ENST00000525562 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors RP11-419C5.2 Clone_based_vega_gene ENSG00000226232 19 0 0.00 26 12 30.77 - - - ENSG00000249209 0 genome.wustl.edu 37 21 34958385 34958385 + Nonsense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 21 34958385 34958385 G C SNP ENSG00000249209 ENST00000429238 human ensembl 69_37n -1 putative nonsense c.389 p.S130* 1.000 NULL pfam_ATPase_F1-cplx_OSCP/dsu,superfamily_ATPase_OSCP/delta_N - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AP000304.12 Clone_based_vega_gene ENSG00000249209 29 0 0.00 38 11 22.45 - - - EPG5 0 genome.wustl.edu 37 18 43435611 43435611 + Missense_Mutation SNP A A G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 18 43435611 43435611 A G SNP EPG5 ENST00000282041 human ensembl 69_37n -1 known missense c.7484 p.V2495A 0.990 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 25 0 0.00 21 9 30.00 - - - EPS8L3 0 genome.wustl.edu 37 1 110300157 110300157 + Silent SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 1 110300157 110300157 C T SNP EPS8L3 ENST00000369805 human ensembl 69_37n -1 known silent c.918 p.L306 0.225 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 99 0 0.00 100 15 13.04 - - - F5 0 genome.wustl.edu 37 1 169510087 169510087 + Missense_Mutation SNP T T A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 1 169510087 169510087 T A SNP F5 ENST00000367796 human ensembl 69_37n -1 known missense c.4256 p.D1419V 0.085 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 78 0 0.00 105 17 13.93 - - - F5 0 genome.wustl.edu 37 1 169510415 169510415 + Missense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 1 169510415 169510415 G C SNP F5 ENST00000367796 human ensembl 69_37n -1 known missense c.3928 p.P1310A 0.096 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 188 0 0.00 211 29 12.08 - - - FAM179B 0 genome.wustl.edu 37 14 45496657 45496657 + Missense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 14 45496657 45496657 G C SNP FAM179B ENST00000361577 human ensembl 69_37n +1 known missense c.3484 p.D1162H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 29 0 0.00 23 6 20.69 - - - FAM214B 0 genome.wustl.edu 37 9 35105681 35105681 + Silent SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 9 35105681 35105681 G C SNP FAM214B ENST00000322813 human ensembl 69_37n -1 known silent c.1461 p.L487 1.000 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 33 0 0.00 31 12 27.91 - - - FAM71B 0 genome.wustl.edu 37 5 156589753 156589753 + Missense_Mutation SNP T T A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 5 156589753 156589753 T A SNP FAM71B ENST00000302938 human ensembl 69_37n -1 known missense c.1523 p.E508V 0.978 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 170 0 0.00 104 54 34.18 - - - FATE1 0 genome.wustl.edu 37 X 150884668 150884668 + Missense_Mutation SNP G G T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 X 150884668 150884668 G T SNP FATE1 ENST00000370350 human ensembl 69_37n +1 known missense c.77 p.G26V 0.000 NULL pfam_FATE/Miff/Tango-11 - no_errors FATE1 HGNC ENSG00000147378 49 0 0.00 21 6 22.22 - - - FATE1 0 genome.wustl.edu 37 X 150884669 150884669 + Silent SNP G G T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 X 150884669 150884669 G T SNP FATE1 ENST00000370350 human ensembl 69_37n +1 known silent c.78 p.G26 0.000 NULL pfam_FATE/Miff/Tango-11 - no_errors FATE1 HGNC ENSG00000147378 48 0 0.00 20 5 20.00 - - - FERD3L 0 genome.wustl.edu 37 7 19184757 19184757 + Nonsense_Mutation SNP C C A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 7 19184757 19184757 C A SNP FERD3L ENST00000275461 human ensembl 69_37n -1 known nonsense c.229 p.E77* 0.930 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors FERD3L HGNC ENSG00000146618 18 0 0.00 29 7 18.92 - - - FRMPD4 0 genome.wustl.edu 37 X 12735862 12735862 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 X 12735862 12735862 G A SNP FRMPD4 ENST00000380682 human ensembl 69_37n +1 known missense c.2917 p.A973T 0.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 33 0 0.00 22 9 29.03 - - - FXYD3 0 genome.wustl.edu 37 19 35612200 35612200 + Missense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 19 35612200 35612200 G C SNP FXYD3 ENST00000454903 human ensembl 69_37n +1 known missense c.148 p.V50L 0.000 NULL NULL - no_errors FXYD3 HGNC ENSG00000089356 43 0 0.00 37 13 26.00 - - - GABRA3 0 genome.wustl.edu 37 X 151358349 151358349 + Silent SNP C C A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 X 151358349 151358349 C A SNP GABRA3 ENST00000370311 human ensembl 69_37n -1 known silent c.996 p.V332 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 51 0 0.00 39 5 11.36 - - - GABRA3 0 genome.wustl.edu 37 X 151358350 151358350 + Missense_Mutation SNP A A C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 X 151358350 151358350 A C SNP GABRA3 ENST00000370311 human ensembl 69_37n -1 known missense c.995 p.V332G 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 52 0 0.00 38 5 11.63 - - - GOT1 0 genome.wustl.edu 37 10 101163403 101163403 + RNA SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 10 101163403 101163403 G C SNP GOT1 ENST00000489349 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GOT1 HGNC ENSG00000120053 48 0 0.00 33 9 21.43 - - - GPNMB 0 genome.wustl.edu 37 7 23286540 23286540 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 7 23286540 23286540 G A SNP GPNMB ENST00000381990 human ensembl 69_37n +1 known missense c.64 p.A22T 0.838 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 70 0 0.00 60 20 25.00 - - - GSPT2 0 genome.wustl.edu 37 X 51487622 51487622 + Silent SNP T T A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 X 51487622 51487622 T A SNP GSPT2 ENST00000340438 human ensembl 69_37n +1 known silent c.900 p.G300 0.991 pfam_ProtSyn_GTP-bd,prints_ProtSyn_GTP-bd pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd - no_errors GSPT2 HGNC ENSG00000189369 43 0 0.00 45 5 10.00 - - - HIVEP1 0 genome.wustl.edu 37 6 12161680 12161680 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 6 12161680 12161680 C G SNP HIVEP1 ENST00000379388 human ensembl 69_37n +1 known missense c.6496 p.Q2166E 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 13 0 0.00 23 9 27.27 - - - HRH1 0 genome.wustl.edu 37 3 11301539 11301539 + Silent SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 3 11301539 11301539 C G SNP HRH1 ENST00000397056 human ensembl 69_37n +1 known silent c.816 p.V272 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H1_recept,prints_7TM_GPCR_Rhodpsn,prints_Musac_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors HRH1 HGNC ENSG00000196639 14 0 0.00 14 4 22.22 - - - HSD3B2 0 genome.wustl.edu 37 1 119965062 119965062 + Missense_Mutation SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 1 119965062 119965062 C T SNP HSD3B2 ENST00000369416 human ensembl 69_37n +1 known missense c.938 p.P313L 0.809 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR - no_errors HSD3B2 HGNC ENSG00000203859 71 0 0.00 52 12 18.75 - - - IFITM2 0 genome.wustl.edu 37 11 308202 308202 + Missense_Mutation SNP A A T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 11 308202 308202 A T SNP IFITM2 ENST00000399817 human ensembl 69_37n +1 known missense c.10 p.I4F 0.001 NULL pfam_Interferon-induced_TM_protein - no_errors IFITM2 HGNC ENSG00000185201 49 0 0.00 35 9 20.45 - - - IFNA7 0 genome.wustl.edu 37 9 21201849 21201849 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 9 21201849 21201849 C G SNP IFNA7 ENST00000239347 human ensembl 69_37n -1 known missense c.316 p.E106Q 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA7 HGNC ENSG00000214042 80 0 0.00 72 12 14.29 - - - IGF1R 0 genome.wustl.edu 37 15 99465386 99465386 + Silent SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 15 99465386 99465386 G A SNP IGF1R ENST00000268035 human ensembl 69_37n +1 known silent c.2211 p.R737 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC ENSG00000140443 33 0 0.00 73 10 12.05 - - - ING5 0 genome.wustl.edu 37 2 242648663 242648663 + Missense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 2 242648663 242648663 G C SNP ING5 ENST00000313552 human ensembl 69_37n +1 known missense c.142 p.E48Q 0.994 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING5 HGNC ENSG00000168395 53 0 0.00 51 11 17.74 - - - INVS 0 genome.wustl.edu 37 9 103055138 103055138 + Missense_Mutation SNP C C A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 9 103055138 103055138 C A SNP INVS ENST00000262457 human ensembl 69_37n +1 known missense c.2599 p.L867M 0.000 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 81 0 0.00 65 25 27.47 - - - ITPR3 0 genome.wustl.edu 37 6 33646572 33646572 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 6 33646572 33646572 G A SNP ITPR3 ENST00000374316 human ensembl 69_37n +1 known missense c.3928 p.E1310K 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR3 HGNC ENSG00000096433 37 0 0.00 15 10 40.00 - - - KDM4C 0 genome.wustl.edu 37 9 7169948 7169948 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 9 7169948 7169948 C G SNP KDM4C ENST00000381306 human ensembl 69_37n +1 known missense c.3052 p.H1018D 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 43 0 0.00 27 10 27.03 - - - KIF7 0 genome.wustl.edu 37 15 90190234 90190234 + Missense_Mutation SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 15 90190234 90190234 C T SNP KIF7 ENST00000394412 human ensembl 69_37n -1 known missense c.1615 p.E539K 0.997 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 78 0 0.00 76 18 18.95 - - - KRT34 0 genome.wustl.edu 37 17 39534312 39534312 + Nonstop_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 17 39534312 39534312 C G SNP KRT34 ENST00000394001 human ensembl 69_37n -1 known nonstop c.1310 p.*437S 0.001 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 43 0 0.00 27 9 25.00 - - - LAMA5 0 genome.wustl.edu 37 20 60928253 60928253 + Missense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 20 60928253 60928253 G C SNP LAMA5 ENST00000252999 human ensembl 69_37n -1 known missense c.505 p.L169V 1.000 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 126 0 0.00 66 27 29.03 - - - LGR5 0 genome.wustl.edu 37 12 71978369 71978369 + Missense_Mutation SNP A A G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 12 71978369 71978369 A G SNP LGR5 ENST00000266674 human ensembl 69_37n +1 known missense c.2579 p.Q860R 1.000 NULL pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LGR5 HGNC ENSG00000139292 45 0 0.00 35 6 14.63 - - - LRRK1 0 genome.wustl.edu 37 15 101593547 101593547 + Missense_Mutation SNP A A T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 15 101593547 101593547 A T SNP LRRK1 ENST00000388948 human ensembl 69_37n +1 known missense c.3976 p.S1326C 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC ENSG00000154237 36 0 0.00 43 13 23.21 - - - MAP3K15 0 genome.wustl.edu 37 X 19387187 19387187 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 X 19387187 19387187 C G SNP MAP3K15 ENST00000338883 human ensembl 69_37n -1 known missense c.3551 p.R1184T 0.008 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC ENSG00000180815 104 0 0.00 54 10 15.62 - - - MARCH3 0 genome.wustl.edu 37 5 126213929 126213929 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 5 126213929 126213929 C G SNP MARCH3 ENST00000308660 human ensembl 69_37n -1 known missense c.551 p.G184A 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH3 HGNC ENSG00000173926 36 0 0.00 21 10 32.26 - - - MGLL 0 genome.wustl.edu 37 3 127434724 127434724 + Nonstop_Mutation SNP A A T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 3 127434724 127434724 A T SNP MGLL ENST00000496306 human ensembl 69_37n -1 novel nonstop c.169 p.*57K 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MGLL HGNC ENSG00000074416 43 0 0.00 34 7 17.07 - - - MUC16 0 genome.wustl.edu 37 19 9089883 9089883 + Silent SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 19 9089883 9089883 C T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.1932 p.T644 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 79 0 0.00 61 18 22.78 - - - MUC4 0 genome.wustl.edu 37 3 195538696 195538696 + RNA SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 3 195538696 195538696 G A SNP MUC4 ENST00000478685 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors MUC4 HGNC ENSG00000145113 26 0 0.00 20 4 16.67 - - - MYO1H 0 genome.wustl.edu 37 12 109839002 109839005 + Frame_Shift_Del DEL GGCA GGCA - TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 GGCA GGCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 12 109839002 109839005 GGCA - DEL MYO1H ENST00000431443 human ensembl 69_37n +1 known frame_shift_del c.627_630 p.A210fs 0.720:1.000:1.000:0.998 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 75 0 0.00 74 9 10.84 - - - MYO3A 0 genome.wustl.edu 37 10 26491957 26491957 + Missense_Mutation SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 10 26491957 26491957 C T SNP MYO3A ENST00000265944 human ensembl 69_37n +1 known missense c.4651 p.P1551S 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 47 0 0.00 34 15 30.61 - - - NLRP12 0 genome.wustl.edu 37 19 54308693 54308693 + Missense_Mutation SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 19 54308693 54308693 C T SNP NLRP12 ENST00000391773 human ensembl 69_37n -1 known missense c.2258 p.C753Y 0.900 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 37 0 0.00 26 7 21.21 - - - NOTCH4 0 genome.wustl.edu 37 6 32187943 32187943 + Silent SNP C C A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 6 32187943 32187943 C A SNP NOTCH4 ENST00000375023 human ensembl 69_37n -1 known silent c.1278 p.G426 0.991 smart_EGF-like,pirsf_Notch,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 58 0 0.00 39 9 18.75 - - - NOX1 0 genome.wustl.edu 37 X 100117162 100117162 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 X 100117162 100117162 C G SNP NOX1 ENST00000372966 human ensembl 69_37n -1 known missense c.802 p.E268Q 1.000 NULL pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX1 HGNC ENSG00000007952 40 0 0.00 27 14 34.15 - - - NRIP1 0 genome.wustl.edu 37 21 16338244 16338244 + Missense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 21 16338244 16338244 G C SNP NRIP1 ENST00000318948 human ensembl 69_37n -1 known missense c.2270 p.S757C 0.998 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 57 0 0.00 57 13 18.57 - - - NRIP1 0 genome.wustl.edu 37 21 16338289 16338289 + Nonsense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 21 16338289 16338289 G C SNP NRIP1 ENST00000318948 human ensembl 69_37n -1 known nonsense c.2225 p.S742* 0.082 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 36 0 0.00 41 13 24.07 - - - OGFR 0 genome.wustl.edu 37 20 61444569 61444569 + Silent SNP A A G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 20 61444569 61444569 A G SNP OGFR ENST00000290291 human ensembl 69_37n +1 known silent c.1602 p.P534 0.000 pfam_OGF_rcpt_rpt pfam_OGF_rcpt,pfam_OGF_rcpt_rpt - no_errors OGFR HGNC ENSG00000060491 23 0 0.00 24 6 20.00 - - - PABPC4 0 genome.wustl.edu 37 1 40041514 40041514 + Missense_Mutation SNP A A T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 1 40041514 40041514 A T SNP PABPC4 ENST00000372858 human ensembl 69_37n -1 known missense c.110 p.V37E 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4 HGNC ENSG00000090621 109 0 0.00 83 43 33.86 - - - PCNXL3 0 genome.wustl.edu 37 11 65387069 65387069 + Silent SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 11 65387069 65387069 G A SNP PCNXL3 ENST00000355703 human ensembl 69_37n +1 known silent c.1767 p.R589 0.996 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 26 0 0.00 26 6 18.75 - - - PDHA2 0 genome.wustl.edu 37 4 96761627 96761627 + Missense_Mutation SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 4 96761627 96761627 C T SNP PDHA2 ENST00000295266 human ensembl 69_37n +1 known missense c.326 p.S109L 0.794 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 89 0 0.00 61 17 21.79 - - - PDLIM7 0 genome.wustl.edu 37 5 176917060 176917060 + Nonsense_Mutation SNP C C A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 5 176917060 176917060 C A SNP PDLIM7 ENST00000505074 human ensembl 69_37n -1 novel nonsense c.613 p.E205* 0.007 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_stop_codon PDLIM7 HGNC ENSG00000196923 48 0 0.00 37 5 11.90 - - - PET112 0 genome.wustl.edu 37 4 152592249 152592249 + RNA SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 4 152592249 152592249 C T SNP PET112 ENST00000507592 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PET112 HGNC ENSG00000059691 53 0 0.00 33 16 32.65 - - - PEX13 0 genome.wustl.edu 37 2 61258835 61258835 + Missense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 2 61258835 61258835 G C SNP PEX13 ENST00000295030 human ensembl 69_37n +1 known missense c.374 p.S125T 1.000 pfam_Peroxin-13_N pfam_Peroxin-13_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PEX13 HGNC ENSG00000162928 56 0 0.00 58 10 14.71 - - - PHF3 0 genome.wustl.edu 37 6 64421231 64421231 + Missense_Mutation SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 6 64421231 64421231 C T SNP PHF3 ENST00000262043 human ensembl 69_37n +1 known missense c.3970 p.H1324Y 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 49 0 0.00 42 6 12.50 - - - POTEA 0 genome.wustl.edu 37 8 43218150 43218150 + RNA SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 8 43218150 43218150 G A SNP POTEA ENST00000522175 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors POTEA HGNC ENSG00000188877 35 0 0.00 53 16 23.19 - - - PPFIBP1 0 genome.wustl.edu 37 12 27799034 27799034 + Nonsense_Mutation SNP G G T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 12 27799034 27799034 G T SNP PPFIBP1 ENST00000318304 human ensembl 69_37n +1 known nonsense c.310 p.E104* 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 34 0 0.00 39 9 18.75 - - - PRSS22 0 genome.wustl.edu 37 16 2903953 2903953 + Silent SNP A A G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 16 2903953 2903953 A G SNP PRSS22 ENST00000161006 human ensembl 69_37n -1 known silent c.630 p.H210 0.947 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS22 HGNC ENSG00000005001 110 0 0.00 58 26 30.95 - - - PSG2 0 genome.wustl.edu 37 19 43579653 43579653 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 19 43579653 43579653 G A SNP PSG2 ENST00000329509 human ensembl 69_37n -1 known missense c.562 p.P188S 0.007 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG2 HGNC ENSG00000242221 163 0 0.00 142 49 25.65 - - - PSMC3 0 genome.wustl.edu 37 11 47446006 47446006 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 11 47446006 47446006 C G SNP PSMC3 ENST00000298852 human ensembl 69_37n -1 known missense c.427 p.E143Q 1.000 tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC3 HGNC ENSG00000165916 63 0 0.00 47 22 31.88 - - - RASGRF1 0 genome.wustl.edu 37 15 79277356 79277356 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 15 79277356 79277356 G A SNP RASGRF1 ENST00000419573 human ensembl 69_37n -1 known missense c.3455 p.S1152F 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 76 0 0.00 82 13 13.68 - - - RIOK3 0 genome.wustl.edu 37 18 21057146 21057146 + Missense_Mutation SNP T T C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 18 21057146 21057146 T C SNP RIOK3 ENST00000339486 human ensembl 69_37n +1 known missense c.1258 p.W420R 1.000 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 - no_errors RIOK3 HGNC ENSG00000101782 53 0 0.00 39 16 29.09 - - - SAMD14 0 genome.wustl.edu 37 17 48195544 48195544 + Missense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 17 48195544 48195544 G C SNP SAMD14 ENST00000503131 human ensembl 69_37n -1 known missense c.191 p.S64W 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD14 HGNC ENSG00000167100 43 0 0.00 33 7 17.50 - - - SAMD7 0 genome.wustl.edu 37 3 169644815 169644815 + Silent SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 3 169644815 169644815 C G SNP SAMD7 ENST00000335556 human ensembl 69_37n +1 known silent c.765 p.L255 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD7 HGNC ENSG00000187033 35 0 0.00 17 6 26.09 - - - SEL1L2 0 genome.wustl.edu 37 20 13912405 13912405 + Nonsense_Mutation SNP C C A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 20 13912405 13912405 C A SNP SEL1L2 ENST00000284951 human ensembl 69_37n -1 known nonsense c.127 p.E43* 0.001 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 43 0 0.00 27 7 20.59 - - - SH3BP5 0 genome.wustl.edu 37 3 15297790 15297790 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 3 15297790 15297790 C G SNP SH3BP5 ENST00000383791 human ensembl 69_37n -1 known missense c.1171 p.E391Q 1.000 NULL pfam_SH3-bd_5 - no_errors SH3BP5 HGNC ENSG00000131370 138 0 0.00 124 31 20.00 - - - SH3D19 0 genome.wustl.edu 37 4 152054357 152054357 + Missense_Mutation SNP T T C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 4 152054357 152054357 T C SNP SH3D19 ENST00000304527 human ensembl 69_37n -1 known missense c.1747 p.I583V 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 25 0 0.00 18 3 14.29 - - - SORCS2 0 genome.wustl.edu 37 4 7730093 7730093 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 4 7730093 7730093 G A SNP SORCS2 ENST00000507866 human ensembl 69_37n +1 known missense c.2886 p.M962I 0.999 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 28 0 0.00 20 8 28.57 - - - ST7L 0 genome.wustl.edu 37 1 113161562 113161562 + Silent SNP G G T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 1 113161562 113161562 G T SNP ST7L ENST00000358039 human ensembl 69_37n -1 known silent c.174 p.I58 0.933 pfam_ST7 pfam_ST7 - no_errors ST7L HGNC ENSG00000007341 55 0 0.00 38 10 20.83 - - - SVIL 0 genome.wustl.edu 37 10 29811407 29811407 + Silent SNP T T C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 10 29811407 29811407 T C SNP SVIL ENST00000355867 human ensembl 69_37n -1 known silent c.3321 p.G1107 0.978 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors SVIL HGNC ENSG00000197321 56 0 0.00 25 11 30.56 - - - SYNRG 0 genome.wustl.edu 37 17 35956267 35956268 + Splice_Site DEL TA TA - TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 17 35956267 35956268 TA 0 DEL SYNRG ENST00000339208 human ensembl 69_37n -1 known splice_site_del c.240+2_240+1 e3+2 0.997:1.000 - - - no_errors SYNRG HGNC ENSG00000006114 76 0 0 44 10 18.52 - - - TEX14 0 genome.wustl.edu 37 17 56647814 56647814 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 17 56647814 56647814 G A SNP TEX14 ENST00000240361 human ensembl 69_37n -1 known missense c.3887 p.S1296F 0.082 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC ENSG00000121101 29 0 0.00 33 10 23.26 - - - TIAM1 0 genome.wustl.edu 37 21 32639231 32639231 + Missense_Mutation SNP T T C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 21 32639231 32639231 T C SNP TIAM1 ENST00000286827 human ensembl 69_37n -1 known missense c.58 p.S20G 0.996 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 48 0 0.00 30 10 25.00 - - - TMEM184C 0 genome.wustl.edu 37 4 148550836 148550836 + Missense_Mutation SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 4 148550836 148550836 C T SNP TMEM184C ENST00000296582 human ensembl 69_37n +1 known missense c.659 p.S220L 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184C HGNC ENSG00000164168 36 0 0.00 36 4 10.00 - - - TMEM216 0 genome.wustl.edu 37 11 61165359 61165359 + Missense_Mutation SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 11 61165359 61165359 C T SNP TMEM216 ENST00000334888 human ensembl 69_37n +1 known missense c.343 p.R115C 1.000 pfam_Uncharacterised_TM-17 pfam_Uncharacterised_TM-17 - no_errors TMEM216 HGNC ENSG00000187049 86 0 0.00 60 21 25.93 - - - TPST1 0 genome.wustl.edu 37 7 65751514 65751514 + Missense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 7 65751514 65751514 G C SNP TPST1 ENST00000304842 human ensembl 69_37n +1 known missense c.862 p.D288H 1.000 NULL pfam_Sulfotransferase_dom - no_errors TPST1 HGNC ENSG00000169902 44 0 0.00 36 8 18.18 - - - TUBBP1 0 genome.wustl.edu 37 8 30209455 30209456 + RNA INS - - A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 8 30209455 30209456 - A INS TUBBP1 ENST00000518096 human ensembl 69_37n +1 known rna NULL NULL 0.999:1.000 - - - no_errors TUBBP1 HGNC ENSG00000127589 22 0 0.00 20 4 16.67 - - - UBR4 0 genome.wustl.edu 37 1 19428097 19428097 + Missense_Mutation SNP T T A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 1 19428097 19428097 T A SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.12940 p.I4314F 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 63 0 0.00 22 8 26.67 - - - UBXN11 0 genome.wustl.edu 37 1 26620739 26620739 + Missense_Mutation SNP A A T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 1 26620739 26620739 A T SNP UBXN11 ENST00000374221 human ensembl 69_37n -1 known missense c.516 p.H172Q 0.000 NULL pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 65 0 0.00 26 12 31.58 - - - UNC13A 0 genome.wustl.edu 37 19 17750006 17750006 + Silent SNP C C T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 19 17750006 17750006 C T SNP UNC13A ENST00000428389 human ensembl 69_37n -1 known silent c.3231 p.P1077 0.232 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 39 0 0.00 63 13 16.88 - - - USHBP1 0 genome.wustl.edu 37 19 17369072 17369072 + Missense_Mutation SNP G G T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 19 17369072 17369072 G T SNP USHBP1 ENST00000252597 human ensembl 69_37n -1 known missense c.1169 p.A390E 0.616 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 36 0 0.00 23 4 14.81 - - - VPRBP 0 genome.wustl.edu 37 3 51464977 51464977 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 3 51464977 51464977 G A SNP VPRBP ENST00000423656 human ensembl 69_37n -1 known missense c.406 p.H136Y 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_start_codon VPRBP HGNC ENSG00000145041 26 0 0.00 14 6 30.00 - - - WDR36 0 genome.wustl.edu 37 5 110446555 110446555 + Nonsense_Mutation SNP G G T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 5 110446555 110446555 G T SNP WDR36 ENST00000506538 human ensembl 69_37n +1 known nonsense c.1678 p.E560* 1.000 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 32 0 0.00 36 4 10.00 - - - YEATS2 0 genome.wustl.edu 37 3 183446539 183446539 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 3 183446539 183446539 G A SNP YEATS2 ENST00000305135 human ensembl 69_37n +1 known missense c.712 p.V238I 1.000 pfam_YEATS,pfscan_YEATS pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 46 0 0.00 27 9 25.00 - - - ZBTB32 0 genome.wustl.edu 37 19 36205602 36205602 + Missense_Mutation SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 19 36205602 36205602 G A SNP ZBTB32 ENST00000262630 human ensembl 69_37n +1 known missense c.74 p.R25Q 0.983 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB32 HGNC ENSG00000011590 54 0 0.00 37 5 11.90 - - - ZFX 0 genome.wustl.edu 37 X 24197366 24197366 + Nonsense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 X 24197366 24197366 C G SNP ZFX ENST00000540034 human ensembl 69_37n +1 known nonsense c.242 p.S81* 1.000 NULL pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 68 0 0.00 60 21 25.93 - - - ZNF318 0 genome.wustl.edu 37 6 43325259 43325259 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d0a7623-cc2d-443f-9798-df420fc50d17 abd9cb0d-01de-478e-8dd7-b8b93e099f58 6 43325259 43325259 C G SNP ZNF318 ENST00000361428 human ensembl 69_37n -1 known missense c.793 p.E265Q 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 77 0 0.00 81 17 17.00 - - -