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 AATK 0 genome.wustl.edu 37 17 79139785 79139785 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 79139785 79139785 G A SNP AATK ENST00000326724 human ensembl 69_37n -1 known missense c.8 p.S3L 0.996 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 34 0 0.00 22 11 33.33 - - - ABCA2 0 genome.wustl.edu 37 9 139912043 139912043 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 139912043 139912043 G A SNP ABCA2 ENST00000479446 human ensembl 69_37n -1 known missense c.362 p.S121F 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ABCA2 HGNC ENSG00000107331 25 0 0.00 37 6 13.95 - - - ABCE1 0 genome.wustl.edu 37 4 146025645 146025645 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 146025645 146025645 G C SNP ABCE1 ENST00000296577 human ensembl 69_37n +1 known missense c.81 p.K27N 1.000 pfam_RNaseL-inhib_metal-bd_dom,prints_ABC_E pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 31 0 0.00 33 6 15.38 - - - ABCF1 0 genome.wustl.edu 37 6 30553699 30553699 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 30553699 30553699 G A SNP ABCF1 ENST00000475993 human ensembl 69_37n +1 known missense c.895 p.E299K 1.000 pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ABCF1 HGNC ENSG00000204574 30 0 0.00 15 13 46.43 - - - ABCG1 0 genome.wustl.edu 37 21 43714663 43714663 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 21 43714663 43714663 C T SNP ABCG1 ENST00000489035 human ensembl 69_37n +1 putative missense c.907 p.R303C 0.984 pfam_ABC_2_trans pfam_ABC_2_trans - no_start_codon:pseudogene:no_stop_codon ABCG1 HGNC ENSG00000160179 44 0 0.00 49 16 24.62 - - - ACACA 0 genome.wustl.edu 37 17 35444078 35444078 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 35444078 35444078 C T SNP ACACA ENST00000586821 human ensembl 69_37n -1 putative missense c.200 p.R67K 0.287 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ACACA HGNC ENSG00000132142 58 0 0.00 46 10 17.86 - - - ACAT1 0 genome.wustl.edu 37 11 108009651 108009651 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 108009651 108009651 G A SNP ACAT1 ENST00000531813 human ensembl 69_37n +1 known missense c.361 p.E121K 1.000 superfamily_Thiolase-like pfam_Thiolase_N,superfamily_Thiolase-like - no_errors ACAT1 HGNC ENSG00000075239 97 0 0.00 86 10 10.42 - - - ACCS 0 genome.wustl.edu 37 11 44089193 44089193 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 44089193 44089193 C G SNP ACCS ENST00000263776 human ensembl 69_37n +1 known missense c.16 p.Q6E 0.002 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase - no_errors ACCS HGNC ENSG00000110455 111 0 0.00 89 22 19.82 - - - ACCSL 0 genome.wustl.edu 37 11 44072129 44072129 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 44072129 44072129 G A SNP ACCSL ENST00000378832 human ensembl 69_37n +1 known missense c.592 p.E198K 0.617 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase - no_errors ACCSL HGNC ENSG00000205126 72 0 0.00 59 26 30.59 - - - ACIN1 0 genome.wustl.edu 37 14 23564243 23564243 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 23564243 23564243 C T SNP ACIN1 ENST00000262710 human ensembl 69_37n -1 known missense c.253 p.E85K 1.000 pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ENSG00000100813 62 0 0.00 63 7 10.00 - - - ACOT4 0 genome.wustl.edu 37 14 74058884 74058884 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 74058884 74058884 G A SNP ACOT4 ENST00000326303 human ensembl 69_37n +1 known missense c.221 p.G74E 1.000 pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT4 HGNC ENSG00000177465 38 0 0.00 44 6 12.00 - - - ACP2 0 genome.wustl.edu 37 11 47269662 47269662 + Nonsense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 47269662 47269662 G C SNP ACP2 ENST00000256997 human ensembl 69_37n -1 known nonsense c.137 p.S46* 0.907 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACP2 HGNC ENSG00000134575 63 0 0.00 51 6 10.53 - - - ACRBP 0 genome.wustl.edu 37 12 6756134 6756134 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 6756134 6756134 G C SNP ACRBP ENST00000229243 human ensembl 69_37n -1 known missense c.88 p.Q30E 0.000 pfam_Proacrosin-bd pfam_Proacrosin-bd - no_errors ACRBP HGNC ENSG00000111644 58 0 0.00 41 12 22.64 - - - ADA 0 genome.wustl.edu 37 20 43249486 43249486 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 43249486 43249486 C G SNP ADA ENST00000464097 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors ADA HGNC ENSG00000196839 17 0 0.00 26 10 27.78 - - - ADAM22 0 genome.wustl.edu 37 7 87743932 87743932 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 87743932 87743932 C G SNP ADAM22 ENST00000265727 human ensembl 69_37n +1 known silent c.507 p.L169 1.000 pfam_Peptidase_M12B_N 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,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM22 HGNC ENSG00000008277 42 0 0.00 41 9 18.00 - - - ADCY10P1 0 genome.wustl.edu 37 6 41089095 41089095 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 41089095 41089095 G A SNP ADCY10P1 ENST00000567255 human ensembl 69_37n +1 known rna NULL NULL 0.997 - - - no_errors ADCY10P1 HGNC ENSG00000161912 45 0 0.00 52 9 14.52 - - - ADCY2 0 genome.wustl.edu 37 5 7690768 7690768 + RNA SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 7690768 7690768 G C SNP ADCY2 ENST00000513693 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors ADCY2 HGNC ENSG00000078295 35 0 0.00 33 10 22.73 - - - ADCY3 0 genome.wustl.edu 37 2 25044484 25044484 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 25044484 25044484 C G SNP ADCY3 ENST00000260600 human ensembl 69_37n -1 known missense c.3029 p.W1010S 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 30 0 0.00 32 13 28.89 - - - ADORA3 0 genome.wustl.edu 37 1 112043256 112043256 + RNA SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 112043256 112043256 G C SNP ADORA3 ENST00000486342 human ensembl 69_37n -1 putative rna NULL NULL 0.002 - - - no_errors ADORA3 HGNC ENSG00000121933 17 0 0.00 14 4 22.22 - - - ADRB3 0 genome.wustl.edu 37 8 37823802 37823802 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 37823802 37823802 G C SNP ADRB3 ENST00000345060 human ensembl 69_37n -1 known missense c.186 p.I62M 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_5HT6_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adrgc_rcpt_B3,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_5HT6_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors ADRB3 HGNC ENSG00000188778 62 0 0.00 93 15 13.76 - - - AFF4 0 genome.wustl.edu 37 5 132270373 132270373 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 132270373 132270373 C T SNP AFF4 ENST00000265343 human ensembl 69_37n -1 known silent c.384 p.Q128 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 35 0 0.00 46 6 11.54 - - - AGGF1 0 genome.wustl.edu 37 5 76342394 76342394 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 76342394 76342394 G C SNP AGGF1 ENST00000312916 human ensembl 69_37n +1 known missense c.1093 p.D365H 1.000 NULL pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom - no_errors AGGF1 HGNC ENSG00000164252 13 0 0.00 15 7 31.82 - - - AGRN 0 genome.wustl.edu 37 1 981250 981250 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 981250 981250 G A SNP AGRN ENST00000379370 human ensembl 69_37n +1 known missense c.2674 p.E892K 1.000 smart_EGF-like,pfscan_EGF_laminin pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EGF-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EGF-like,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA - no_errors AGRN HGNC ENSG00000188157 61 0 0.00 58 17 22.67 - - - AHNAK2 0 genome.wustl.edu 37 14 105414834 105414834 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 105414834 105414834 G C SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.6954 p.F2318L 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 77 0 0.00 93 28 23.14 - - - AHRR 0 genome.wustl.edu 37 5 353864 353864 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 353864 353864 G C SNP AHRR ENST00000316418 human ensembl 69_37n +1 known missense c.94 p.E32Q 0.982 pfscan_HLH_DNA-bd pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors AHRR HGNC ENSG00000063438 53 0 0.00 53 7 11.67 - - - AJUBA 0 genome.wustl.edu 37 14 23442685 23442685 + Silent SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 23442685 23442685 G T SNP AJUBA ENST00000262713 human ensembl 69_37n -1 known silent c.1584 p.L528 0.998 pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors AJUBA HGNC ENSG00000129474 37 0 0.00 35 10 22.22 - - - AKAP11 0 genome.wustl.edu 37 13 42873670 42873670 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 42873670 42873670 C T SNP AKAP11 ENST00000025301 human ensembl 69_37n +1 known missense c.788 p.S263F 0.997 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 22 0 0.00 23 4 14.81 - - - AKAP3 0 genome.wustl.edu 37 12 4737352 4737352 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 4737352 4737352 G C SNP AKAP3 ENST00000228850 human ensembl 69_37n -1 known missense c.716 p.S239C 1.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 49 0 0.00 62 22 26.19 - - - ALDH1A3 0 genome.wustl.edu 37 15 101447368 101447368 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 101447368 101447368 G A SNP ALDH1A3 ENST00000329841 human ensembl 69_37n +1 known missense c.1276 p.E426K 0.998 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 39 0 0.00 34 5 12.82 - - - ALDOA 0 genome.wustl.edu 37 16 30077131 30077131 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 30077131 30077131 C T SNP ALDOA ENST00000566012 human ensembl 69_37n +1 known rna NULL NULL 0.791 - - - no_errors ALDOA HGNC ENSG00000149925 50 0 0.00 33 17 34.00 - - - AMY2B 0 genome.wustl.edu 37 1 104114773 104114773 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 104114773 104114773 C T SNP AMY2B ENST00000361355 human ensembl 69_37n +1 known silent c.210 p.F70 0.336 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 198 0 0.00 184 29 13.62 - - - ANK2 0 genome.wustl.edu 37 4 114278026 114278026 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 114278026 114278026 C T SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.8252 p.S2751F 0.001 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 17 0 0.00 8 3 27.27 - - - ANKRD27 0 genome.wustl.edu 37 19 33131255 33131255 + Nonsense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 33131255 33131255 G C SNP ANKRD27 ENST00000306065 human ensembl 69_37n -1 known nonsense c.941 p.S314* 0.932 pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 29 0 0.00 37 8 17.78 - - - ANKRD27 0 genome.wustl.edu 37 19 33131262 33131262 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 33131262 33131262 G A SNP ANKRD27 ENST00000306065 human ensembl 69_37n -1 known silent c.934 p.L312 1.000 pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 31 0 0.00 35 7 16.67 - - - ANKRD28 0 genome.wustl.edu 37 3 15749438 15749438 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 15749438 15749438 C A SNP ANKRD28 ENST00000383777 human ensembl 69_37n -1 known missense c.1549 p.D517Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 67 0 0.00 56 10 15.15 - - - ANKRD49 0 genome.wustl.edu 37 11 94230086 94230086 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 94230086 94230086 G A SNP ANKRD49 ENST00000302755 human ensembl 69_37n +1 known missense c.227 p.R76K 1.000 smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD49 HGNC ENSG00000168876 19 0 0.00 16 6 27.27 - - - ANKS1A 0 genome.wustl.edu 37 6 34985612 34985612 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 34985612 34985612 G A SNP ANKS1A ENST00000360359 human ensembl 69_37n +1 known missense c.1786 p.E596K 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 31 0 0.00 41 9 18.00 - - - ANLN 0 genome.wustl.edu 37 7 36446159 36446159 + Nonsense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 36446159 36446159 C G SNP ANLN ENST00000265748 human ensembl 69_37n +1 known nonsense c.857 p.S286* 0.013 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 91 0 0.00 112 14 11.11 - - - ANO1-AS1 0 genome.wustl.edu 37 11 70034220 70034220 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 70034220 70034220 C T SNP ANO1-AS1 ENST00000524987 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors ANO1-AS1 HGNC ENSG00000254902 60 0 0.00 54 22 28.95 - - - ANO4 0 genome.wustl.edu 37 12 101504219 101504219 + Silent SNP T T C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 101504219 101504219 T C SNP ANO4 ENST00000392977 human ensembl 69_37n +1 known silent c.2187 p.A729 0.986 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 37 0 0.00 61 9 12.86 - - - ANO7L1 0 genome.wustl.edu 37 1 16543025 16543025 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 16543025 16543025 C T SNP ANO7L1 ENST00000442385 human ensembl 69_37n -1 known silent c.114 p.A38 0.995 NULL NULL - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region ANO7L1 HGNC ENSG00000237276 45 0 0.00 79 16 16.84 - - - AP5S1 0 genome.wustl.edu 37 20 3802782 3802782 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 3802782 3802782 C T SNP AP5S1 ENST00000246041 human ensembl 69_37n +1 known silent c.18 p.L6 0.999 NULL NULL - no_errors AP5S1 HGNC ENSG00000125843 64 0 0.00 78 12 13.33 - - - APAF1 0 genome.wustl.edu 37 12 99043451 99043451 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 99043451 99043451 C G SNP APAF1 ENST00000551964 human ensembl 69_37n +1 known missense c.515 p.S172C 0.000 pfam_NB-ARC,pirsf_Apoptotic_pept-activating_1 pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 43 0 0.00 29 11 27.50 - - - APOBR 0 genome.wustl.edu 37 16 28509153 28509153 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 28509153 28509153 G A SNP APOBR ENST00000564831 human ensembl 69_37n +1 known missense c.2791 p.E931K 0.108 NULL NULL - no_errors APOBR HGNC ENSG00000184730 37 0 0.00 23 9 28.12 - - - AQR 0 genome.wustl.edu 37 15 35210546 35210546 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 35210546 35210546 G A SNP AQR ENST00000156471 human ensembl 69_37n -1 known nonsense c.1255 p.Q419* 1.000 NULL NULL - no_errors AQR HGNC ENSG00000021776 36 0 0.00 18 9 33.33 - - - AR 0 genome.wustl.edu 37 X 66937361 66937361 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 66937361 66937361 C T SNP AR ENST00000374690 human ensembl 69_37n +1 known nonsense c.2215 p.Q739* 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 83 0 0.00 75 21 21.88 - - - ARFGAP2 0 genome.wustl.edu 37 11 47193262 47193262 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 47193262 47193262 G C SNP ARFGAP2 ENST00000524782 human ensembl 69_37n -1 known silent c.762 p.L254 1.000 NULL pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 73 0 0.00 48 19 28.36 - - - ARGFX 0 genome.wustl.edu 37 3 121304892 121304892 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 121304892 121304892 C G SNP ARGFX ENST00000334384 human ensembl 69_37n +1 known missense c.393 p.F131L 0.641 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ARGFX HGNC ENSG00000186103 42 0 0.00 32 9 21.95 - - - ARHGAP33 0 genome.wustl.edu 37 19 36268731 36268731 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 36268731 36268731 C T SNP ARHGAP33 ENST00000007510 human ensembl 69_37n +1 known missense c.110 p.S37L 0.998 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 37 0 0.00 36 11 23.40 - - - ARHGEF1 0 genome.wustl.edu 37 19 42392332 42392332 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 42392332 42392332 G C SNP ARHGEF1 ENST00000378152 human ensembl 69_37n +1 known missense c.139 p.E47Q 1.000 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 44 0 0.00 28 5 15.15 - - - ARHGEF12 0 genome.wustl.edu 37 11 120346078 120346078 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 120346078 120346078 C G SNP ARHGEF12 ENST00000356641 human ensembl 69_37n +1 known missense c.3082 p.L1028V 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 65 0 0.00 38 19 32.76 - - - ARHGEF26 0 genome.wustl.edu 37 3 153840606 153840606 + Silent SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 153840606 153840606 C A SNP ARHGEF26 ENST00000356448 human ensembl 69_37n +1 known silent c.825 p.L275 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 28 0 0.00 27 4 12.90 - - - ARHGEF38 0 genome.wustl.edu 37 4 106569819 106569819 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 106569819 106569819 C T SNP ARHGEF38 ENST00000420470 human ensembl 69_37n +1 putative silent c.988 p.L330 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF38 HGNC ENSG00000236699 50 0 0.00 23 5 17.86 - - - ARHGEF40 0 genome.wustl.edu 37 14 21546585 21546585 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 21546585 21546585 G A SNP ARHGEF40 ENST00000298694 human ensembl 69_37n +1 known silent c.2184 p.L728 0.949 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 22 0 0.00 27 7 20.59 - - - ARHGEF7 0 genome.wustl.edu 37 13 111955427 111955427 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 111955427 111955427 G A SNP ARHGEF7 ENST00000370623 human ensembl 69_37n +1 known missense c.2163 p.M721I 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CH-domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 28 0 0.00 14 7 33.33 - - - ARID1B 0 genome.wustl.edu 37 6 157528715 157528715 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 157528715 157528715 G C SNP ARID1B ENST00000367148 human ensembl 69_37n +1 known missense c.6560 p.R2187T 1.000 pfam_DUF3518,superfamily_ARM-type_fold 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 ARID1B HGNC ENSG00000049618 36 0 0.00 35 6 14.63 - - - ASB3 0 genome.wustl.edu 37 2 53831796 53831796 + RNA SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 53831796 53831796 G C SNP ASB3 ENST00000490794 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors ASB3 HGNC ENSG00000115239 15 0 0.00 16 5 23.81 - - - ASB3 0 genome.wustl.edu 37 2 53831842 53831842 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 53831842 53831842 G A SNP ASB3 ENST00000490794 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors ASB3 HGNC ENSG00000115239 24 0 0.00 18 3 14.29 - - - ASCC3 0 genome.wustl.edu 37 6 100957291 100957291 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 100957291 100957291 C T SNP ASCC3 ENST00000369162 human ensembl 69_37n -1 known missense c.6580 p.D2194N 0.998 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 40 0 0.00 54 11 16.92 - - - ASXL2 0 genome.wustl.edu 37 2 25990551 25990551 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 25990551 25990551 G C SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known missense c.676 p.Q226E 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 70 0 0.00 78 10 11.36 - - - ATG16L2 0 genome.wustl.edu 37 11 72525563 72525563 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 72525563 72525563 C T SNP ATG16L2 ENST00000321297 human ensembl 69_37n +1 known missense c.73 p.R25W 1.000 pfam_Autophagy-rel_prot_16 pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ATG16L2 HGNC ENSG00000168010 10 0 0.00 26 8 23.53 - - - ATM 0 genome.wustl.edu 37 11 108183212 108183212 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 108183212 108183212 G A SNP ATM ENST00000278616 human ensembl 69_37n +1 known missense c.5993 p.G1998E 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 22 0 0.00 10 9 47.37 - - - ATP13A5 0 genome.wustl.edu 37 3 193042777 193042777 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 193042777 193042777 G A SNP ATP13A5 ENST00000342358 human ensembl 69_37n -1 known missense c.1550 p.S517L 0.016 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A5 HGNC ENSG00000187527 19 0 0.00 22 7 24.14 - - - ATP1A1 0 genome.wustl.edu 37 1 116936219 116936219 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 116936219 116936219 G A SNP ATP1A1 ENST00000295598 human ensembl 69_37n +1 known missense c.1534 p.E512K 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_cation-ex_asu_euk 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_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A1 HGNC ENSG00000163399 67 0 0.00 50 9 15.25 - - - ATP8B1 0 genome.wustl.edu 37 18 55398952 55398952 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 18 55398952 55398952 C T SNP ATP8B1 ENST00000283684 human ensembl 69_37n -1 known missense c.88 p.E30K 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B1 HGNC ENSG00000081923 116 1 0.85 102 34 25.00 - - - ATR 0 genome.wustl.edu 37 3 142231157 142231157 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 142231157 142231157 C G SNP ATR ENST00000350721 human ensembl 69_37n -1 known silent c.4797 p.L1599 0.978 NULL pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 82 0 0.00 78 15 16.13 - - - ATRX 0 genome.wustl.edu 37 X 76937961 76937961 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 76937961 76937961 C G SNP ATRX ENST00000373344 human ensembl 69_37n -1 known missense c.2787 p.Q929H 0.018 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 54 0 0.00 35 8 18.60 - - - ATXN2 0 genome.wustl.edu 37 12 111923576 111923576 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 111923576 111923576 G A SNP ATXN2 ENST00000377617 human ensembl 69_37n -1 known nonsense c.2878 p.Q960* 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 29 0 0.00 32 10 23.81 - - - AVL9 0 genome.wustl.edu 37 7 32535327 32535327 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 32535327 32535327 G A SNP AVL9 ENST00000404479 human ensembl 69_37n +1 known silent c.6 p.E2 0.993 NULL pfam_Secretory_pathway_prot_Avl9,pfam_DUF2347 - no_errors AVL9 HGNC ENSG00000105778 22 0 0.00 15 10 40.00 - - - AZGP1 0 genome.wustl.edu 37 7 99565725 99565725 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 99565725 99565725 G C SNP AZGP1 ENST00000411734 human ensembl 69_37n -1 putative silent c.657 p.L219 0.007 NULL pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 - no_errors AZGP1 HGNC ENSG00000160862 120 0 0.00 100 21 17.21 - - - B3GALTL 0 genome.wustl.edu 37 13 31903641 31903641 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 31903641 31903641 C T SNP B3GALTL ENST00000343307 human ensembl 69_37n +1 known missense c.1333 p.R445W 0.998 pfam_Fringe-like pfam_Fringe-like - no_errors B3GALTL HGNC ENSG00000187676 74 0 0.00 54 7 11.48 - - - B4GALT4 0 genome.wustl.edu 37 3 118937545 118937545 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 118937545 118937545 G C SNP B4GALT4 ENST00000359213 human ensembl 69_37n -1 known missense c.749 p.S250C 1.000 pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT4 HGNC ENSG00000121578 30 0 0.00 30 12 28.57 - - - BAHD1 0 genome.wustl.edu 37 15 40750963 40750963 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 40750963 40750963 C G SNP BAHD1 ENST00000416165 human ensembl 69_37n +1 known silent c.300 p.P100 0.671 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 81 0 0.00 50 9 15.25 - - - BAI1 0 genome.wustl.edu 37 8 143569763 143569763 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 143569763 143569763 G A SNP BAI1 ENST00000323289 human ensembl 69_37n +1 known missense c.2347 p.D783N 0.994 pfam_DUF3497,prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 94 0 0.00 91 24 20.87 - - - BCAT2 0 genome.wustl.edu 37 19 49309945 49309945 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 49309945 49309945 C T SNP BCAT2 ENST00000316273 human ensembl 69_37n -1 known silent c.129 p.Q43 0.002 superfamily_Aminotrans_IV,pirsf_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 33 0 0.00 55 7 11.29 - - - BCDIN3D 0 genome.wustl.edu 37 12 50232712 50232712 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 50232712 50232712 G C SNP BCDIN3D ENST00000333924 human ensembl 69_37n -1 known silent c.321 p.L107 1.000 NULL pfam_Bin3 - no_errors BCDIN3D HGNC ENSG00000186666 46 0 0.00 27 9 25.00 - - - BEND5 0 genome.wustl.edu 37 1 49201913 49201913 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 49201913 49201913 C G SNP BEND5 ENST00000371833 human ensembl 69_37n -1 known missense c.1106 p.R369T 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 85 0 0.00 88 12 12.00 - - - BEST4 0 genome.wustl.edu 37 1 45250338 45250338 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 45250338 45250338 G A SNP BEST4 ENST00000372207 human ensembl 69_37n -1 known silent c.1111 p.L371 0.304 NULL pfam_Bestrophin/UPF0187 - no_errors BEST4 HGNC ENSG00000142959 20 0 0.00 16 4 20.00 - - - BFAR 0 genome.wustl.edu 37 16 14761577 14761577 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 14761577 14761577 C T SNP BFAR ENST00000261658 human ensembl 69_37n +1 known nonsense c.1246 p.Q416* 1.000 NULL pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC ENSG00000103429 73 0 0.00 82 16 16.33 - - - BHLHE40 0 genome.wustl.edu 37 3 5021412 5021412 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 5021412 5021412 G A SNP BHLHE40 ENST00000256495 human ensembl 69_37n +1 known silent c.9 p.R3 1.000 NULL pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd - no_errors BHLHE40 HGNC ENSG00000134107 41 0 0.00 36 18 33.33 - - - BMP5 0 genome.wustl.edu 37 6 55739250 55739250 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 55739250 55739250 C G SNP BMP5 ENST00000370830 human ensembl 69_37n -1 known missense c.414 p.Q138H 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 66 0 0.00 50 16 24.24 - - - BNIP1 0 genome.wustl.edu 37 5 172581376 172581376 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 172581376 172581376 C G SNP BNIP1 ENST00000231668 human ensembl 69_37n +1 known missense c.358 p.L120V 0.974 NULL pfam_Sec20 - no_errors BNIP1 HGNC ENSG00000113734 49 0 0.00 40 5 11.11 - - - BRK1 0 genome.wustl.edu 37 3 10168052 10168052 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 10168052 10168052 C T SNP BRK1 ENST00000256463 human ensembl 69_37n +1 known silent c.297 p.F99 0.995 NULL NULL - no_errors BRK1 HGNC ENSG00000254999 19 0 0.00 2 3 60.00 - - - BRWD3 0 genome.wustl.edu 37 X 79959038 79959038 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 79959038 79959038 G A SNP BRWD3 ENST00000373275 human ensembl 69_37n -1 known nonsense c.2776 p.Q926* 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 76 0 0.00 55 7 11.29 - - - C10orf85 0 genome.wustl.edu 37 10 122357989 122357989 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 122357989 122357989 C T SNP C10orf85 ENST00000369071 human ensembl 69_37n +1 known missense c.167 p.S56L 0.000 NULL NULL - no_errors C10orf85 HGNC ENSG00000177234 23 0 0.00 23 7 23.33 - - - C12orf57 0 genome.wustl.edu 37 12 7052663 7052663 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 7052663 7052663 G A SNP C12orf57 ENST00000542222 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors C12orf57 HGNC ENSG00000111678 25 0 0.00 26 5 16.13 - - - C14orf183 0 genome.wustl.edu 37 14 50550436 50550436 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 50550436 50550436 G A SNP C14orf183 ENST00000305273 human ensembl 69_37n -1 novel missense c.908 p.P303L 0.015 NULL NULL - no_errors C14orf183 HGNC ENSG00000168260 40 0 0.00 45 21 31.82 - - - C17orf28 0 genome.wustl.edu 37 17 72960609 72960609 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 72960609 72960609 G A SNP C17orf28 ENST00000425042 human ensembl 69_37n -1 known missense c.185 p.S62L 1.000 NULL pfam_Dymeclin - no_errors C17orf28 HGNC ENSG00000167861 38 0 0.00 37 17 31.48 - - - C18orf25 0 genome.wustl.edu 37 18 43820137 43820137 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 18 43820137 43820137 G A SNP C18orf25 ENST00000282059 human ensembl 69_37n +1 putative silent c.882 p.E294 1.000 NULL NULL - no_errors C18orf25 HGNC ENSG00000152242 78 0 0.00 85 12 12.37 - - - C1orf123 0 genome.wustl.edu 37 1 53686159 53686159 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 53686159 53686159 C T SNP C1orf123 ENST00000470385 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors C1orf123 HGNC ENSG00000162384 49 0 0.00 57 19 25.00 - - - C1orf226 0 genome.wustl.edu 37 1 162351998 162351998 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 162351998 162351998 G C SNP C1orf226 ENST00000426197 human ensembl 69_37n +1 known missense c.436 p.E146Q 0.957 NULL NULL - no_errors C1orf226 HGNC ENSG00000239887 30 0 0.00 23 12 34.29 - - - C2orf62 0 genome.wustl.edu 37 2 219227619 219227619 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 219227619 219227619 G A SNP C2orf62 ENST00000289388 human ensembl 69_37n +1 known silent c.624 p.L208 0.876 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C2orf62 HGNC ENSG00000158428 39 0 0.00 65 10 13.33 - - - C3orf70 0 genome.wustl.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 184870595 184870595 G A SNP C3orf70 ENST00000335012 human ensembl 69_37n -1 known missense c.17 p.S6L 0.804 NULL NULL - no_errors C3orf70 HGNC ENSG00000187068 25 0 0.00 27 9 25.00 - - - C4BPA 0 genome.wustl.edu 37 1 207286436 207286436 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 207286436 207286436 C T SNP C4BPA ENST00000367070 human ensembl 69_37n +1 known silent c.66 p.F22 0.002 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPA HGNC ENSG00000123838 21 0 0.00 10 11 52.38 - - - C4orf40 0 genome.wustl.edu 37 4 71024528 71024528 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 71024528 71024528 G C SNP C4orf40 ENST00000344526 human ensembl 69_37n +1 known missense c.559 p.E187Q 0.000 NULL NULL - no_errors C4orf40 HGNC ENSG00000187533 51 0 0.00 78 11 12.36 - - - C5orf42 0 genome.wustl.edu 37 5 37180995 37180995 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 37180995 37180995 C T SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known missense c.5534 p.R1845K 0.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 34 0 0.00 41 13 24.07 - - - C5orf42 0 genome.wustl.edu 37 5 37187656 37187656 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 37187656 37187656 C G SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known missense c.3940 p.D1314H 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 38 0 0.00 39 13 25.00 - - - C5orf54 0 genome.wustl.edu 37 5 159821587 159821587 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 159821587 159821587 C T SNP C5orf54 ENST00000408953 human ensembl 69_37n -1 known missense c.911 p.R304K 0.960 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors C5orf54 HGNC ENSG00000221886 25 0 0.00 23 9 28.12 - - - C5orf60 0 genome.wustl.edu 37 5 179069346 179069346 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 179069346 179069346 G C SNP C5orf60 ENST00000448248 human ensembl 69_37n -1 known missense c.828 p.I276M 0.003 NULL NULL - no_errors C5orf60 HGNC ENSG00000204661 74 0 0.00 69 12 14.81 - - - C6 0 genome.wustl.edu 37 5 41153970 41153970 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 41153970 41153970 G A SNP C6 ENST00000263413 human ensembl 69_37n -1 known silent c.2232 p.Y744 0.991 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C6 HGNC ENSG00000039537 54 0 0.00 53 6 10.17 - - - C6orf58 0 genome.wustl.edu 37 6 127901510 127901510 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 127901510 127901510 G A SNP C6orf58 ENST00000329722 human ensembl 69_37n +1 known silent c.489 p.K163 0.002 pfam_DUF781 pfam_DUF781 - no_errors C6orf58 HGNC ENSG00000184530 48 0 0.00 46 21 31.34 - - - C9orf171 0 genome.wustl.edu 37 9 135285786 135285786 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 135285786 135285786 C G SNP C9orf171 ENST00000343036 human ensembl 69_37n +1 known missense c.128 p.S43C 0.216 NULL NULL - no_errors C9orf171 HGNC ENSG00000188523 14 0 0.00 16 5 23.81 - - - CACNA2D3 0 genome.wustl.edu 37 3 55002509 55002509 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 55002509 55002509 C A SNP CACNA2D3 ENST00000288197 human ensembl 69_37n +1 known missense c.2482 p.Q828K 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 49 0 0.00 35 5 12.50 - - - CADPS 0 genome.wustl.edu 37 3 62452976 62452976 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 62452976 62452976 C T SNP CADPS ENST00000473635 human ensembl 69_37n -1 known missense c.449 p.C150Y 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CADPS HGNC ENSG00000163618 36 0 0.00 26 5 16.13 - - - CAND1 0 genome.wustl.edu 37 12 67691215 67691215 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 67691215 67691215 C T SNP CAND1 ENST00000299218 human ensembl 69_37n +1 known missense c.520 p.P174S 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 46 0 0.00 45 11 19.64 - - - CAPN2 0 genome.wustl.edu 37 1 223949411 223949411 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 223949411 223949411 G A SNP CAPN2 ENST00000492565 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CAPN2 HGNC ENSG00000162909 22 0 0.00 26 4 13.33 - - - CC2D2A 0 genome.wustl.edu 37 4 15516354 15516354 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 15516354 15516354 G A SNP CC2D2A ENST00000413206 human ensembl 69_37n +1 known missense c.742 p.D248N 0.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors CC2D2A HGNC ENSG00000048342 77 0 0.00 62 20 24.39 - - - CCDC88C 0 genome.wustl.edu 37 14 91770047 91770047 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 91770047 91770047 C T SNP CCDC88C ENST00000389857 human ensembl 69_37n -1 known silent c.3633 p.E1211 0.993 NULL pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 50 0 0.00 36 6 14.29 - - - CCL15 0 genome.wustl.edu 37 17 34324830 34324830 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 34324830 34324830 C T SNP CCL15 ENST00000354059 human ensembl 69_37n -1 known missense c.315 p.M105I 0.035 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL15 Clone_based_vega_gene ENSG00000267596 46 0 0.00 36 11 23.40 - - - CCNL2 0 genome.wustl.edu 37 1 1322688 1322688 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 1322688 1322688 C T SNP CCNL2 ENST00000400809 human ensembl 69_37n -1 known missense c.1486 p.E496K 1.000 pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 39 0 0.00 38 13 25.49 - - - CD180 0 genome.wustl.edu 37 5 66478815 66478815 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 66478815 66478815 G C SNP CD180 ENST00000256447 human ensembl 69_37n -1 known missense c.1856 p.S619C 0.002 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CD180 HGNC ENSG00000134061 53 0 0.00 41 9 18.00 - - - CD180 0 genome.wustl.edu 37 5 66479281 66479281 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 66479281 66479281 G A SNP CD180 ENST00000256447 human ensembl 69_37n -1 known missense c.1390 p.L464F 0.245 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CD180 HGNC ENSG00000134061 44 0 0.00 45 8 15.09 - - - CD44 0 genome.wustl.edu 37 11 35198253 35198253 + Nonsense_Mutation SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 35198253 35198253 G T SNP CD44 ENST00000428726 human ensembl 69_37n +1 known nonsense c.199 p.E67* 0.465 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link - no_errors CD44 HGNC ENSG00000026508 23 0 0.00 15 7 31.82 - - - CDC40 0 genome.wustl.edu 37 6 110501679 110501679 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 110501679 110501679 C T SNP CDC40 ENST00000307731 human ensembl 69_37n +1 known missense c.32 p.S11F 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC ENSG00000168438 35 0 0.00 34 15 30.61 - - - CDCA8 0 genome.wustl.edu 37 1 38171204 38171204 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 38171204 38171204 G C SNP CDCA8 ENST00000327331 human ensembl 69_37n +1 known missense c.676 p.E226Q 1.000 pfam_Cell_div_borealin pfam_Cell_div_borealin,pfam_Borealin-like_N - no_errors CDCA8 HGNC ENSG00000134690 52 0 0.00 41 6 12.77 - - - CDH10 0 genome.wustl.edu 37 5 24535355 24535355 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 24535355 24535355 C T SNP CDH10 ENST00000264463 human ensembl 69_37n -1 known missense c.680 p.R227K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC ENSG00000040731 70 0 0.00 89 11 11.00 - - - CDK19 0 genome.wustl.edu 37 6 111136325 111136325 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 111136325 111136325 G C SNP CDK19 ENST00000368911 human ensembl 69_37n -1 known missense c.15 p.F5L 1.000 NULL 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 CDK19 HGNC ENSG00000155111 81 0 0.00 108 26 19.40 - - - CDKN1B 0 genome.wustl.edu 37 12 12871086 12871086 + Nonsense_Mutation SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 12871086 12871086 G T SNP CDKN1B ENST00000228872 human ensembl 69_37n +1 known nonsense c.313 p.E105* 1.000 NULL pfam_CDI - no_errors CDKN1B HGNC ENSG00000111276 24 0 0.00 22 9 29.03 - - - CENPE 0 genome.wustl.edu 37 4 104116339 104116339 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 104116339 104116339 C T SNP CENPE ENST00000265148 human ensembl 69_37n -1 known missense c.409 p.E137K 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom 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 53 0 0.00 33 5 13.16 - - - CENPO 0 genome.wustl.edu 37 2 25042510 25042510 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 25042510 25042510 C T SNP CENPO ENST00000395845 human ensembl 69_37n +1 putative rna NULL NULL 1.000 - - - no_errors CENPO HGNC ENSG00000138092 25 0 0.00 31 6 16.22 - - - CEP164 0 genome.wustl.edu 37 11 117280452 117280452 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 117280452 117280452 G A SNP CEP164 ENST00000278935 human ensembl 69_37n +1 known silent c.3867 p.S1289 0.000 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC ENSG00000110274 65 0 0.00 53 12 18.46 - - - CEP350 0 genome.wustl.edu 37 1 180010347 180010347 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 180010347 180010347 G C SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known missense c.4185 p.Q1395H 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 42 0 0.00 34 18 34.62 - - - CEP78 0 genome.wustl.edu 37 9 80868264 80868264 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 80868264 80868264 C T SNP CEP78 ENST00000487108 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors CEP78 HGNC ENSG00000148019 38 0 0.00 38 12 24.00 - - - CFH 0 genome.wustl.edu 37 1 196709772 196709772 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 196709772 196709772 G A SNP CFH ENST00000367429 human ensembl 69_37n +1 known missense c.2806 p.E936K 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 60 0 0.00 42 35 45.45 - - - CFL2 0 genome.wustl.edu 37 14 35182735 35182735 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 35182735 35182735 G A SNP CFL2 ENST00000298159 human ensembl 69_37n -1 known silent c.36 p.I12 1.000 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors CFL2 HGNC ENSG00000165410 28 0 0.00 17 4 19.05 - - - CHAT 0 genome.wustl.edu 37 10 50835753 50835753 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 50835753 50835753 G A SNP CHAT ENST00000337653 human ensembl 69_37n +1 known missense c.1033 p.E345K 0.998 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 65 0 0.00 94 13 12.15 - - - CHD5 0 genome.wustl.edu 37 1 6194863 6194863 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 6194863 6194863 C T SNP CHD5 ENST00000262450 human ensembl 69_37n -1 known missense c.2927 p.G976D 1.000 pfam_SNF2_N pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 92 0 0.00 89 32 26.45 - - - CHD9 0 genome.wustl.edu 37 16 53261490 53261490 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 53261490 53261490 G C SNP CHD9 ENST00000398510 human ensembl 69_37n +1 known missense c.2143 p.E715Q 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD9 HGNC ENSG00000177200 54 0 0.00 41 17 29.31 - - - CHID1 0 genome.wustl.edu 37 11 900964 900964 + Nonsense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 900964 900964 G C SNP CHID1 ENST00000534254 human ensembl 69_37n -1 known nonsense c.461 p.S154* 0.230 NULL superfamily_Glycoside_hydrolase_SF - no_errors CHID1 HGNC ENSG00000177830 21 0 0.00 23 4 14.81 - - - CHN1 0 genome.wustl.edu 37 2 175664667 175664667 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 175664667 175664667 C T SNP CHN1 ENST00000488080 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CHN1 HGNC ENSG00000128656 27 0 0.00 13 6 31.58 - - - CHST15 0 genome.wustl.edu 37 10 125804103 125804103 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 125804103 125804103 C T SNP CHST15 ENST00000346248 human ensembl 69_37n -1 known silent c.879 p.K293 0.998 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors CHST15 HGNC ENSG00000182022 21 0 0.00 22 5 18.52 - - - CHTF18 0 genome.wustl.edu 37 16 845741 845741 + Silent SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 845741 845741 C A SNP CHTF18 ENST00000317063 human ensembl 69_37n +1 known silent c.2859 p.I953 0.001 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 31 0 0.00 40 11 21.57 - - - CLCN7 0 genome.wustl.edu 37 16 1511649 1511649 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 1511649 1511649 G A SNP CLCN7 ENST00000382745 human ensembl 69_37n -1 known silent c.240 p.P80 1.000 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 47 0 0.00 51 13 20.31 - - - CLDN18 0 genome.wustl.edu 37 3 137729229 137729229 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 137729229 137729229 G A SNP CLDN18 ENST00000183605 human ensembl 69_37n +1 known silent c.162 p.V54 0.149 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin - no_errors CLDN18 HGNC ENSG00000066405 60 0 0.00 50 15 23.08 - - - CLEC4D 0 genome.wustl.edu 37 12 8673751 8673751 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 8673751 8673751 C G SNP CLEC4D ENST00000299665 human ensembl 69_37n +1 known missense c.532 p.Q178E 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4D HGNC ENSG00000166527 15 0 0.00 21 7 25.00 - - - CLIP2 0 genome.wustl.edu 37 7 73800910 73800910 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 73800910 73800910 G A SNP CLIP2 ENST00000223398 human ensembl 69_37n +1 known missense c.2539 p.E847K 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 28 0 0.00 33 13 28.26 - - - CLK3 0 genome.wustl.edu 37 15 74919701 74919701 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 74919701 74919701 G A SNP CLK3 ENST00000395066 human ensembl 69_37n +1 known missense c.1270 p.E424K 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK3 HGNC ENSG00000179335 44 0 0.00 35 5 12.50 - - - CLPTM1L 0 genome.wustl.edu 37 5 1320765 1320765 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 1320765 1320765 C T SNP CLPTM1L ENST00000320895 human ensembl 69_37n -1 known missense c.1498 p.D500N 1.000 NULL pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 28 0 0.00 34 5 12.82 - - - CMIP 0 genome.wustl.edu 37 16 81679139 81679139 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 81679139 81679139 G A SNP CMIP ENST00000564666 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors CMIP HGNC ENSG00000153815 20 0 0.00 17 11 39.29 - - - CNBD1 0 genome.wustl.edu 37 8 88365898 88365898 + Missense_Mutation SNP T T G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 88365898 88365898 T G SNP CNBD1 ENST00000518476 human ensembl 69_37n +1 known missense c.1187 p.L396R 0.229 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 60 0 0.00 58 7 10.77 - - - CNPY3 0 genome.wustl.edu 37 6 42905863 42905863 + Silent SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 42905863 42905863 C A SNP CNPY3 ENST00000372836 human ensembl 69_37n +1 known silent c.531 p.I177 0.997 pfam_DUF3456 pfam_DUF3456 - no_errors CNPY3 HGNC ENSG00000137161 41 0 0.00 56 15 21.13 - - - CNTFR 0 genome.wustl.edu 37 9 34568931 34568931 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 34568931 34568931 C T SNP CNTFR ENST00000351266 human ensembl 69_37n -1 known missense c.49 p.A17T 0.328 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTFR HGNC ENSG00000122756 116 0 0.00 98 28 22.22 - - - COASY 0 genome.wustl.edu 37 17 40714751 40714751 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 40714751 40714751 C T SNP COASY ENST00000590958 human ensembl 69_37n +1 known silent c.198 p.L66 0.915 NULL pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 75 0 0.00 60 24 28.57 - - - COG1 0 genome.wustl.edu 37 17 71197491 71197491 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 71197491 71197491 G C SNP COG1 ENST00000299886 human ensembl 69_37n +1 known missense c.1525 p.A509P 0.998 NULL pfam_Vps51 - no_errors COG1 HGNC ENSG00000166685 55 0 0.00 33 4 10.81 - - - COG2 0 genome.wustl.edu 37 1 230804672 230804672 + Splice_Site SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 230804672 230804672 G A SNP COG2 ENST00000494371 human ensembl 69_37n +1 known splice_site c.NULL NULL 0.002 - - - no_errors COG2 HGNC ENSG00000135775 10 0 0.00 2 5 71.43 - - - COL28A1 0 genome.wustl.edu 37 7 7410430 7410430 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 7410430 7410430 G A SNP COL28A1 ENST00000399429 human ensembl 69_37n -1 known nonsense c.2992 p.Q998* 0.621 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 37 0 0.00 41 7 14.58 - - - COL6A3 0 genome.wustl.edu 37 2 238290024 238290024 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 238290024 238290024 G A SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known silent c.1431 p.I477 0.987 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 41 0 0.00 34 7 17.07 - - - COL6A4P1 0 genome.wustl.edu 37 3 15211962 15211962 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 15211962 15211962 G A SNP COL6A4P1 ENST00000446690 human ensembl 69_37n -1 known rna NULL NULL 0.014 - - - no_errors COL6A4P1 HGNC ENSG00000230524 54 0 0.00 51 9 15.00 - - - CORO2B 0 genome.wustl.edu 37 15 69003908 69003908 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 69003908 69003908 G A SNP CORO2B ENST00000566799 human ensembl 69_37n +1 known missense c.511 p.E171K 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2B HGNC ENSG00000103647 39 0 0.00 37 8 17.78 - - - CORO7 0 genome.wustl.edu 37 16 4390379 4390379 + Nonsense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 4390379 4390379 C A SNP CORO7 ENST00000572467 human ensembl 69_37n -1 known nonsense c.3088 p.E1030* 0.992 pfam_Protein_transpt pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7 HGNC ENSG00000103426 68 0 0.00 90 23 20.35 - - - CPA1 0 genome.wustl.edu 37 7 130021575 130021575 + Silent SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 130021575 130021575 C A SNP CPA1 ENST00000011292 human ensembl 69_37n +1 known silent c.252 p.I84 0.025 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 52 0 0.00 54 8 12.90 - - - CPD 0 genome.wustl.edu 37 17 28791716 28791716 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 28791716 28791716 G A SNP CPD ENST00000225719 human ensembl 69_37n +1 known missense c.4027 p.E1343K 0.999 NULL pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 25 0 0.00 10 4 28.57 - - - CPSF1 0 genome.wustl.edu 37 8 145624842 145624842 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 145624842 145624842 C T SNP CPSF1 ENST00000349769 human ensembl 69_37n -1 known missense c.1294 p.A432T 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 45 0 0.00 77 20 20.62 - - - CR2 0 genome.wustl.edu 37 1 207648450 207648450 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 207648450 207648450 G C SNP CR2 ENST00000367057 human ensembl 69_37n +1 known missense c.2605 p.D869H 0.565 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 51 0 0.00 37 23 38.33 - - - CREBZF 0 genome.wustl.edu 37 11 85371453 85371453 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 85371453 85371453 C G SNP CREBZF ENST00000531515 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CREBZF HGNC ENSG00000137504 28 0 0.00 37 10 21.28 - - - CRELD1 0 genome.wustl.edu 37 3 9984832 9984832 + Nonsense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 9984832 9984832 C G SNP CRELD1 ENST00000435417 human ensembl 69_37n +1 putative nonsense c.176 p.S59* 1.000 superfamily_Growth_fac_rcpt pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CRELD1 HGNC ENSG00000163703 35 0 0.00 36 4 10.00 - - - CRIPAK 0 genome.wustl.edu 37 4 1388324 1388324 + Missense_Mutation SNP A A C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 1388324 1388324 A C SNP CRIPAK ENST00000324803 human ensembl 69_37n +1 known missense c.25 p.N9H 0.039 NULL smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 115 1 0.86 210 29 12.13 - - - CRNKL1 0 genome.wustl.edu 37 20 20026011 20026011 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 20026011 20026011 C T SNP CRNKL1 ENST00000377340 human ensembl 69_37n -1 known missense c.1225 p.E409K 1.000 smart_HAT pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 45 0 0.00 31 6 16.22 - - - CROCC 0 genome.wustl.edu 37 1 17282565 17282565 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 17282565 17282565 G A SNP CROCC ENST00000375541 human ensembl 69_37n +1 known missense c.3778 p.E1260K 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 38 0 0.00 33 6 15.38 - - - CSDE1 0 genome.wustl.edu 37 1 115267858 115267858 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 115267858 115267858 C T SNP CSDE1 ENST00000369530 human ensembl 69_37n -1 known silent c.1782 p.V594 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 66 0 0.00 63 8 11.27 - - - CSTF2T 0 genome.wustl.edu 37 10 53458881 53458881 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 53458881 53458881 C G SNP CSTF2T ENST00000331173 human ensembl 69_37n -1 known silent c.429 p.L143 0.992 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 57 0 0.00 46 18 28.12 - - - CTAGE1 0 genome.wustl.edu 37 18 19997759 19997759 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 18 19997759 19997759 G A SNP CTAGE1 ENST00000391403 human ensembl 69_37n -1 known missense c.16 p.H6Y 0.000 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 46 0 0.00 48 12 20.00 - - - CTNNBL1 0 genome.wustl.edu 37 20 36431299 36431299 + Silent SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 36431299 36431299 G T SNP CTNNBL1 ENST00000405275 human ensembl 69_37n +1 known silent c.981 p.L327 1.000 superfamily_ARM-type_fold pfam_DUF1716_euk,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 20 0 0.00 18 8 30.77 - - - CUBN 0 genome.wustl.edu 37 10 16957944 16957944 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 16957944 16957944 G A SNP CUBN ENST00000377833 human ensembl 69_37n -1 known silent c.7086 p.F2362 0.081 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 57 0 0.00 86 15 14.85 - - - CUL3 0 genome.wustl.edu 37 2 225346783 225346783 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 225346783 225346783 C G SNP CUL3 ENST00000264414 human ensembl 69_37n -1 known missense c.1855 p.E619Q 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 59 0 0.00 38 13 25.49 - - - CXCL6 0 genome.wustl.edu 37 4 74702511 74702511 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 74702511 74702511 C T SNP CXCL6 ENST00000226317 human ensembl 69_37n +1 known missense c.44 p.S15L 0.000 prints_Chemokine_CXCL8/IL8 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC - no_errors CXCL6 HGNC ENSG00000124875 41 0 0.00 45 23 33.82 - - - CXorf57 0 genome.wustl.edu 37 X 105868386 105868386 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 105868386 105868386 G C SNP CXorf57 ENST00000372548 human ensembl 69_37n +1 known missense c.853 p.E285Q 1.000 superfamily_NA-bd_OB-fold-like superfamily_NA-bd_OB-fold-like - no_errors CXorf57 HGNC ENSG00000147231 97 0 0.00 75 19 20.21 - - - CYP2C18 0 genome.wustl.edu 37 10 96495282 96495282 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 96495282 96495282 C G SNP CYP2C18 ENST00000476630 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CYP2C18 HGNC ENSG00000108242 43 0 0.00 38 6 13.64 - - - CYP4B1 0 genome.wustl.edu 37 1 47284405 47284405 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 47284405 47284405 C G SNP CYP4B1 ENST00000371923 human ensembl 69_37n +1 known missense c.1458 p.I486M 0.247 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4B1 HGNC ENSG00000142973 23 0 0.00 42 10 19.23 - - - CYP4F8 0 genome.wustl.edu 37 19 15730300 15730300 + Splice_Site SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 15730300 15730300 G C SNP CYP4F8 ENST00000441682 human ensembl 69_37n +1 known splice_site c.NULL NULL 1.000 - - - no_errors CYP4F8 HGNC ENSG00000186526 67 0 0.00 70 19 20.88 - - - DALRD3 0 genome.wustl.edu 37 3 49055212 49055212 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 49055212 49055212 C G SNP DALRD3 ENST00000341949 human ensembl 69_37n -1 known missense c.552 p.E184D 0.000 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 86 0 0.00 60 12 16.44 - - - DARS 0 genome.wustl.edu 37 2 136700965 136700965 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 136700965 136700965 C G SNP DARS ENST00000264161 human ensembl 69_37n -1 known missense c.406 p.E136Q 1.000 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Asp-tRNA-synth_arc/euk pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asp-tRNA-synth_arc/euk - no_errors DARS HGNC ENSG00000115866 45 0 0.00 47 17 26.56 - - - DCAF12L1 0 genome.wustl.edu 37 X 125685957 125685957 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 125685957 125685957 G A SNP DCAF12L1 ENST00000371126 human ensembl 69_37n -1 known missense c.635 p.S212F 0.977 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 111 0 0.00 159 19 10.61 - - - DCBLD1 0 genome.wustl.edu 37 6 117869086 117869086 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 117869086 117869086 C T SNP DCBLD1 ENST00000338728 human ensembl 69_37n +1 known silent c.1632 p.L544 1.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD1 HGNC ENSG00000164465 28 0 0.00 36 13 26.53 - - - DCHS1 0 genome.wustl.edu 37 11 6651433 6651433 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 6651433 6651433 G A SNP DCHS1 ENST00000299441 human ensembl 69_37n -1 known missense c.4592 p.S1531L 0.956 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 26 0 0.00 24 6 20.00 - - - DCLK1 0 genome.wustl.edu 37 13 36410237 36410237 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 36410237 36410237 C G SNP DCLK1 ENST00000360631 human ensembl 69_37n -1 known missense c.1162 p.E388Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK1 HGNC ENSG00000133083 72 0 0.00 61 23 27.38 - - - DCTN3 0 genome.wustl.edu 37 9 34614690 34614690 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 34614690 34614690 C T SNP DCTN3 ENST00000479399 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors DCTN3 HGNC ENSG00000137100 33 0 0.00 26 11 29.73 - - - DCX 0 genome.wustl.edu 37 X 110574018 110574018 + RNA SNP A A T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 110574018 110574018 A T SNP DCX ENST00000496551 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors DCX HGNC ENSG00000077279 49 0 0.00 49 12 19.67 - - - DDAH1 0 genome.wustl.edu 37 1 85784437 85784437 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 85784437 85784437 C G SNP DDAH1 ENST00000474200 human ensembl 69_37n -1 known rna NULL NULL 0.986 - - - no_errors DDAH1 HGNC ENSG00000153904 32 0 0.00 16 6 27.27 - - - DDIT4 0 genome.wustl.edu 37 10 74034581 74034581 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 74034581 74034581 C T SNP DDIT4 ENST00000307365 human ensembl 69_37n +1 known nonsense c.334 p.R112* 0.994 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4 HGNC ENSG00000168209 18 0 0.00 24 10 29.41 - - - DDR1 0 genome.wustl.edu 37 6 30861152 30861152 + Silent SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 30861152 30861152 C A SNP DDR1 ENST00000376575 human ensembl 69_37n +1 known silent c.1299 p.I433 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 72 0 0.00 103 17 14.17 - - - DDX23 0 genome.wustl.edu 37 12 49239453 49239453 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 49239453 49239453 G C SNP DDX23 ENST00000308025 human ensembl 69_37n -1 known missense c.113 p.S38C 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX23 HGNC ENSG00000174243 47 0 0.00 37 12 24.49 - - - DENND1B 0 genome.wustl.edu 37 1 197621422 197621422 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 197621422 197621422 G A SNP DENND1B ENST00000367396 human ensembl 69_37n -1 known silent c.390 p.L130 0.914 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1B HGNC ENSG00000213047 34 0 0.00 33 5 13.16 - - - DENND5B 0 genome.wustl.edu 37 12 31632842 31632842 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 31632842 31632842 G A SNP DENND5B ENST00000306833 human ensembl 69_37n -1 known silent c.690 p.I230 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 35 0 0.00 33 7 17.50 - - - DEPDC7 0 genome.wustl.edu 37 11 33047337 33047337 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 33047337 33047337 C T SNP DEPDC7 ENST00000241051 human ensembl 69_37n +1 known missense c.206 p.S69L 0.999 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC7 HGNC ENSG00000121690 53 0 0.00 44 11 20.00 - - - DERA 0 genome.wustl.edu 37 12 16189254 16189254 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 16189254 16189254 G A SNP DERA ENST00000428559 human ensembl 69_37n +1 known nonsense c.839 p.W280* 1.000 pfam_DeoC/AroFGH_arch,pirsf_DeoC,tigrfam_DeoC pfam_DeoC/AroFGH_arch,pirsf_DeoC,tigrfam_DeoC - no_errors DERA HGNC ENSG00000023697 41 0 0.00 40 7 14.89 - - - DHRS4 0 genome.wustl.edu 37 14 24423024 24423024 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 24423024 24423024 C G SNP DHRS4 ENST00000313250 human ensembl 69_37n +1 known silent c.27 p.L9 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors DHRS4 HGNC ENSG00000157326 84 0 0.00 74 22 22.92 - - - DHX36 0 genome.wustl.edu 37 3 154042066 154042066 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 154042066 154042066 C T SNP DHX36 ENST00000496811 human ensembl 69_37n -1 known missense c.140 p.R47Q 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 40 0 0.00 40 12 23.08 - - - DHX9 0 genome.wustl.edu 37 1 182847159 182847159 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 182847159 182847159 G C SNP DHX9 ENST00000367549 human ensembl 69_37n +1 known missense c.2202 p.Q734H 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd - no_errors DHX9 HGNC ENSG00000135829 61 0 0.00 55 10 15.38 - - - DIO3OS 0 genome.wustl.edu 37 14 102024751 102024751 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 102024751 102024751 G A SNP DIO3OS ENST00000554735 human ensembl 69_37n -1 known rna NULL NULL 0.096 - - - no_errors DIO3OS HGNC ENSG00000258498 26 0 0.00 17 7 29.17 - - - DKK3 0 genome.wustl.edu 37 11 11985983 11985983 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 11985983 11985983 G A SNP DKK3 ENST00000527132 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors DKK3 HGNC ENSG00000050165 39 0 0.00 42 12 22.22 - - - DLX4 0 genome.wustl.edu 37 17 48050219 48050219 + RNA SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 48050219 48050219 G C SNP DLX4 ENST00000503410 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors DLX4 HGNC ENSG00000108813 15 0 0.00 13 5 27.78 - - - DNAH17 0 genome.wustl.edu 37 17 76523036 76523036 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 76523036 76523036 G C SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known missense c.3550 p.Q1184E 0.606 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 39 0 0.00 32 8 20.00 - - - DNAH5 0 genome.wustl.edu 37 5 13737381 13737381 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 13737381 13737381 G A SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known missense c.11435 p.A3812V 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 56 0 0.00 49 32 39.51 - - - DNAH6 0 genome.wustl.edu 37 2 84880565 84880565 + Missense_Mutation SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 84880565 84880565 G T SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known missense c.5201 p.R1734I 0.942 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 61 0 0.00 45 5 10.00 - - - DNAH7 0 genome.wustl.edu 37 2 196642548 196642548 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 196642548 196642548 G A SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known silent c.11040 p.I3680 1.000 pfam_Dynein_heavy 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 52 0 0.00 34 8 19.05 - - - DNAH7 0 genome.wustl.edu 37 2 196834702 196834702 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 196834702 196834702 C T SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known silent c.2175 p.L725 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 48 0 0.00 42 12 22.22 - - - DNAI1 0 genome.wustl.edu 37 9 34483462 34483462 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 34483462 34483462 G C SNP DNAI1 ENST00000242317 human ensembl 69_37n +1 known missense c.65 p.R22T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI1 HGNC ENSG00000122735 80 0 0.00 89 15 14.42 - - - DNAJB6 0 genome.wustl.edu 37 7 157208808 157208808 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 157208808 157208808 C T SNP DNAJB6 ENST00000494267 human ensembl 69_37n +1 putative rna NULL NULL 0.001 - - - no_errors DNAJB6 HGNC ENSG00000105993 31 0 0.00 31 6 16.22 - - - DNAJC2 0 genome.wustl.edu 37 7 102956214 102956214 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 102956214 102956214 C G SNP DNAJC2 ENST00000379263 human ensembl 69_37n -1 known missense c.1633 p.E545Q 1.000 NULL pfam_SANT/Myb,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_N - no_errors DNAJC2 HGNC ENSG00000105821 77 0 0.00 50 10 16.67 - - - DNAJC3 0 genome.wustl.edu 37 13 96329521 96329521 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 96329521 96329521 C T SNP DNAJC3 ENST00000376795 human ensembl 69_37n +1 known silent c.12 p.P4 0.994 NULL pfam_TPR-1,pfam_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC3 HGNC ENSG00000102580 35 0 0.00 43 11 20.37 - - - DOCK5 0 genome.wustl.edu 37 8 25237860 25237860 + Nonsense_Mutation SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 25237860 25237860 G T SNP DOCK5 ENST00000276440 human ensembl 69_37n +1 known nonsense c.3976 p.E1326* 0.994 superfamily_ARM-type_fold pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 46 0 0.00 28 8 21.62 - - - DONSON 0 genome.wustl.edu 37 21 34954336 34954336 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 21 34954336 34954336 C T SNP DONSON ENST00000303071 human ensembl 69_37n -1 known missense c.1072 p.E358K 1.000 NULL NULL - no_errors DONSON HGNC ENSG00000159147 68 0 0.00 71 11 13.41 - - - DOPEY2 0 genome.wustl.edu 37 21 37571491 37571491 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 21 37571491 37571491 G C SNP DOPEY2 ENST00000399151 human ensembl 69_37n +1 known missense c.262 p.E88Q 1.000 pfam_Dopey_N pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 73 0 0.00 64 13 16.88 - - - DSCAM 0 genome.wustl.edu 37 21 41496179 41496179 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 21 41496179 41496179 G A SNP DSCAM ENST00000400454 human ensembl 69_37n -1 known silent c.3639 p.L1213 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 47 0 0.00 41 9 18.00 - - - DST 0 genome.wustl.edu 37 6 56362839 56362839 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 56362839 56362839 C G SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.19816 p.D6606H 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 52 0 0.00 43 14 24.56 - - - DST 0 genome.wustl.edu 37 6 56462600 56462600 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 56462600 56462600 C G SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.12040 p.D4014H 0.961 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 77 0 0.00 87 22 20.00 - - - DTWD2 0 genome.wustl.edu 37 5 118264307 118264307 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 118264307 118264307 G A SNP DTWD2 ENST00000510708 human ensembl 69_37n -1 known silent c.522 p.I174 0.989 pfam_DTW pfam_DTW - no_errors DTWD2 HGNC ENSG00000169570 39 0 0.00 34 8 19.05 - - - DZIP1L 0 genome.wustl.edu 37 3 137783497 137783497 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 137783497 137783497 C A SNP DZIP1L ENST00000327532 human ensembl 69_37n -1 known missense c.2115 p.R705S 0.000 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 37 0 0.00 38 5 11.63 - - - EAF2 0 genome.wustl.edu 37 3 121555595 121555595 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 121555595 121555595 C G SNP EAF2 ENST00000465664 human ensembl 69_37n +1 known rna NULL NULL 0.050 - - - no_errors EAF2 HGNC ENSG00000145088 69 0 0.00 50 28 35.90 - - - ECE1 0 genome.wustl.edu 37 1 21586797 21586797 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 21586797 21586797 G A SNP ECE1 ENST00000374893 human ensembl 69_37n -1 known silent c.582 p.L194 0.894 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 27 0 0.00 46 6 11.54 - - - ECT2 0 genome.wustl.edu 37 3 172478015 172478015 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 172478015 172478015 C G SNP ECT2 ENST00000427830 human ensembl 69_37n +1 known missense c.553 p.H185D 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 37 0 0.00 53 9 14.52 - - - EDEM1 0 genome.wustl.edu 37 3 5248877 5248877 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 5248877 5248877 C T SNP EDEM1 ENST00000256497 human ensembl 69_37n +1 known silent c.1257 p.L419 0.864 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM1 HGNC ENSG00000134109 32 0 0.00 39 12 23.53 - - - EDNRA 0 genome.wustl.edu 37 4 148453722 148453722 + Nonsense_Mutation SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 148453722 148453722 G T SNP EDNRA ENST00000324300 human ensembl 69_37n +1 known nonsense c.613 p.E205* 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Endthln_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_ETA_rcpt,prints_Endthln_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors EDNRA HGNC ENSG00000151617 52 0 0.00 45 13 22.41 - - - EHBP1L1 0 genome.wustl.edu 37 11 65351030 65351030 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 65351030 65351030 G C SNP EHBP1L1 ENST00000309295 human ensembl 69_37n +1 known missense c.2887 p.E963Q 0.026 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 21 0 0.00 21 5 19.23 - - - EHD2 0 genome.wustl.edu 37 19 48244171 48244171 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 48244171 48244171 C T SNP EHD2 ENST00000263277 human ensembl 69_37n +1 known missense c.1114 p.H372Y 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 26 0 0.00 35 6 14.63 - - - EIF4A2 0 genome.wustl.edu 37 3 186504030 186504030 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 186504030 186504030 G A SNP EIF4A2 ENST00000440191 human ensembl 69_37n +1 known missense c.598 p.E200K 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 12 0 0.00 11 5 31.25 - - - EIF4G3 0 genome.wustl.edu 37 1 21190980 21190980 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 21190980 21190980 C G SNP EIF4G3 ENST00000374937 human ensembl 69_37n -1 known missense c.2845 p.E949Q 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 35 0 0.00 28 4 12.50 - - - ELAVL4 0 genome.wustl.edu 37 1 50661270 50661270 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 50661270 50661270 G C SNP ELAVL4 ENST00000371821 human ensembl 69_37n +1 known missense c.561 p.K187N 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ENSG00000162374 55 0 0.00 44 5 10.20 - - - ELF1 0 genome.wustl.edu 37 13 41517240 41517240 + Silent SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 41517240 41517240 G T SNP ELF1 ENST00000239882 human ensembl 69_37n -1 known silent c.654 p.L218 0.494 pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets pfam_TF_Elf_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF1 HGNC ENSG00000120690 39 0 0.00 43 9 17.31 - - - EMILIN1 0 genome.wustl.edu 37 2 27303691 27303691 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 27303691 27303691 G C SNP EMILIN1 ENST00000380320 human ensembl 69_37n +1 known missense c.382 p.D128H 1.000 pfscan_EMI_domain pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 77 0 0.00 82 13 13.68 - - - ENTPD3-AS1 0 genome.wustl.edu 37 3 40433438 40433438 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 40433438 40433438 C G SNP ENTPD3-AS1 ENST00000425156 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ENTPD3-AS1 HGNC ENSG00000223797 66 0 0.00 57 7 10.94 - - - EPHA4 0 genome.wustl.edu 37 2 222307703 222307703 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 222307703 222307703 G C SNP EPHA4 ENST00000281821 human ensembl 69_37n -1 known silent c.1920 p.L640 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_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_2,pfam_SAM_type1,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 EPHA4 HGNC ENSG00000116106 40 0 0.00 51 11 17.74 - - - EPHB2 0 genome.wustl.edu 37 1 23111289 23111289 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 23111289 23111289 C T SNP EPHB2 ENST00000400191 human ensembl 69_37n +1 known silent c.531 p.A177 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_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 59 0 0.00 50 20 28.17 - - - ERAL1 0 genome.wustl.edu 37 17 27187544 27187544 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 27187544 27187544 C T SNP ERAL1 ENST00000254928 human ensembl 69_37n +1 known silent c.1287 p.I429 0.730 superfamily_KH_prok-type pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_ProtSyn_GTP-bd,pfam_Fe2_transport_prot_B_N,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors ERAL1 HGNC ENSG00000132591 53 0 0.00 50 7 12.28 - - - ERBB3 0 genome.wustl.edu 37 12 56490388 56490388 + Silent SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 56490388 56490388 C A SNP ERBB3 ENST00000267101 human ensembl 69_37n +1 known silent c.2157 p.V719 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 49 0 0.00 69 10 12.66 - - - ERCC3 0 genome.wustl.edu 37 2 128047295 128047295 + Nonsense_Mutation SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 128047295 128047295 G T SNP ERCC3 ENST00000456257 human ensembl 69_37n -1 novel nonsense c.158 p.S53* 1.000 NULL prints_XPGB_DNA_repair - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ERCC3 HGNC ENSG00000163161 27 0 0.00 32 10 23.81 - - - ESRRG 0 genome.wustl.edu 37 1 216680404 216680404 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 216680404 216680404 C T SNP ESRRG ENST00000408911 human ensembl 69_37n -1 known silent c.1254 p.L418 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 35 0 0.00 20 9 31.03 - - - EXOSC5 0 genome.wustl.edu 37 19 41897847 41897847 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 41897847 41897847 C T SNP EXOSC5 ENST00000221233 human ensembl 69_37n -1 known missense c.283 p.E95K 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC5 HGNC ENSG00000077348 42 0 0.00 45 6 11.76 - - - EXT1 0 genome.wustl.edu 37 8 118830770 118830770 + Splice_Site SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 118830770 118830770 C G SNP EXT1 ENST00000378204 human ensembl 69_37n -1 known splice_site c.1537-1 e7-1 1.000 - - - no_errors EXT1 HGNC ENSG00000182197 34 0 0.00 47 10 17.54 - - - EYS 0 genome.wustl.edu 37 6 65301429 65301429 + Missense_Mutation SNP A A T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 65301429 65301429 A T SNP EYS ENST00000370616 human ensembl 69_37n -1 known missense c.4331 p.L1444H 0.998 NULL pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 19 0 0.00 17 8 32.00 - - - F12 0 genome.wustl.edu 37 5 176832169 176832169 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 176832169 176832169 G A SNP F12 ENST00000253496 human ensembl 69_37n -1 known nonsense c.415 p.Q139* 1.000 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EGF-like_dom,pfam_Fibronectin_type1,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors F12 HGNC ENSG00000131187 46 0 0.00 48 6 11.11 - - - FADS1 0 genome.wustl.edu 37 11 61583518 61583518 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 61583518 61583518 C G SNP FADS1 ENST00000541683 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors FADS1 HGNC ENSG00000149485 10 0 0.00 11 8 42.11 - - - FAM129C 0 genome.wustl.edu 37 19 17641688 17641688 + Silent SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 17641688 17641688 C A SNP FAM129C ENST00000335393 human ensembl 69_37n +1 known silent c.273 p.R91 0.009 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 26 0 0.00 20 10 33.33 - - - FAM136A 0 genome.wustl.edu 37 2 70524439 70524439 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 70524439 70524439 G C SNP FAM136A ENST00000037869 human ensembl 69_37n -1 known silent c.399 p.L133 0.812 pfam_DUF842_euk pfam_DUF842_euk - no_errors FAM136A HGNC ENSG00000035141 45 0 0.00 60 7 10.45 - - - FAM208B 0 genome.wustl.edu 37 10 5782304 5782304 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 5782304 5782304 C T SNP FAM208B ENST00000328090 human ensembl 69_37n +1 known missense c.2171 p.S724F 0.417 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 16 0 0.00 9 5 35.71 - - - FAM214A 0 genome.wustl.edu 37 15 52901013 52901013 + Nonsense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 52901013 52901013 C A SNP FAM214A ENST00000261844 human ensembl 69_37n -1 known nonsense c.2098 p.E700* 0.943 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 69 0 0.00 43 7 14.00 - - - FAM32A 0 genome.wustl.edu 37 19 16301698 16301698 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 16301698 16301698 G A SNP FAM32A ENST00000263384 human ensembl 69_37n +1 known missense c.271 p.D91N 1.000 NULL pfam_DUF1754_euk - no_errors FAM32A HGNC ENSG00000105058 30 0 0.00 37 7 15.91 - - - FAM75A3 0 genome.wustl.edu 37 9 40704366 40704366 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 40704366 40704366 C G SNP FAM75A3 ENST00000356699 human ensembl 69_37n +1 known missense c.2023 p.L675V 0.002 NULL NULL - no_errors FAM75A3 HGNC ENSG00000147926 14 0 0.00 20 9 31.03 - - - FAM83C 0 genome.wustl.edu 37 20 33875226 33875226 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 33875226 33875226 G A SNP FAM83C ENST00000374408 human ensembl 69_37n -1 known silent c.1356 p.L452 0.139 NULL pfam_DUF1669 - no_errors FAM83C HGNC ENSG00000125998 27 0 0.00 24 6 20.00 - - - FAM86HP 0 genome.wustl.edu 37 3 129824435 129824435 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 129824435 129824435 C T SNP FAM86HP ENST00000500074 human ensembl 69_37n -1 putative rna NULL NULL 1.000 - - - no_errors FAM86HP HGNC ENSG00000253540 109 0 0.00 101 57 36.08 - - - FAM91A1 0 genome.wustl.edu 37 8 124818463 124818463 + Nonsense_Mutation SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 124818463 124818463 G T SNP FAM91A1 ENST00000334705 human ensembl 69_37n +1 known nonsense c.2026 p.E676* 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 75 0 0.00 71 28 28.28 - - - FAM9A 0 genome.wustl.edu 37 X 8763154 8763154 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 8763154 8763154 C G SNP FAM9A ENST00000381003 human ensembl 69_37n -1 known missense c.796 p.E266Q 0.018 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 44 0 0.00 33 6 15.38 - - - FAR1 0 genome.wustl.edu 37 11 13716450 13716450 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 13716450 13716450 G A SNP FAR1 ENST00000354817 human ensembl 69_37n +1 known silent c.138 p.Q46 0.999 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase pfam_Male_sterile_NAD-bd,pfam_Malesterile,pfam_Epimerase_deHydtase - no_errors FAR1 HGNC ENSG00000197601 39 0 0.00 34 7 17.07 - - - FCER2 0 genome.wustl.edu 37 19 7755420 7755420 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 7755420 7755420 C G SNP FCER2 ENST00000346664 human ensembl 69_37n -1 known missense c.493 p.E165Q 0.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors FCER2 HGNC ENSG00000104921 49 0 0.00 71 14 16.28 - - - FCGBP 0 genome.wustl.edu 37 19 40354354 40354354 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 40354354 40354354 C T SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known missense c.16115 p.C5372Y 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 79 0 0.00 56 13 18.84 - - - FCRL3 0 genome.wustl.edu 37 1 157646545 157646545 + Splice_Site SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 157646545 157646545 C T SNP FCRL3 ENST00000292392 human ensembl 69_37n -1 known splice_site c.2089-1 e15-1 0.000 - - - no_errors FCRL3 HGNC ENSG00000160856 40 0 0.00 17 20 54.05 - - - FLJ22184 0 genome.wustl.edu 37 19 7938167 7938167 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 7938167 7938167 G C SNP FLJ22184 ENST00000539422 human ensembl 69_37n -1 known missense c.290 p.S97C 0.769 NULL NULL - no_errors AC010336.1 Clone_based_ensembl_gene ENSG00000183248 36 0 0.00 48 6 10.91 - - - FLNA 0 genome.wustl.edu 37 X 153595102 153595102 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 153595102 153595102 C T SNP FLNA ENST00000369850 human ensembl 69_37n -1 known missense c.985 p.E329K 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 31 0 0.00 41 5 10.87 - - - FOXF2 0 genome.wustl.edu 37 6 1390509 1390509 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 1390509 1390509 C T SNP FOXF2 ENST00000259806 human ensembl 69_37n +1 known silent c.327 p.I109 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF2 HGNC ENSG00000137273 31 0 0.00 51 7 12.07 - - - FRG1 0 genome.wustl.edu 37 4 190882150 190882150 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 190882150 190882150 G A SNP FRG1 ENST00000514482 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FRG1 HGNC ENSG00000109536 13 0 0.00 7 5 41.67 - - - FRMD6 0 genome.wustl.edu 37 14 52169259 52169259 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 52169259 52169259 C T SNP FRMD6 ENST00000344768 human ensembl 69_37n +1 known silent c.324 p.I108 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 48 0 0.00 42 7 14.29 - - - FZD1 0 genome.wustl.edu 37 7 90895958 90895958 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 90895958 90895958 G A SNP FZD1 ENST00000287934 human ensembl 69_37n +1 known missense c.1763 p.G588E 0.839 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 37 0 0.00 37 7 15.91 - - - FZD7 0 genome.wustl.edu 37 2 202899454 202899454 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 202899454 202899454 G A SNP FZD7 ENST00000286201 human ensembl 69_37n +1 known silent c.84 p.A28 0.087 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 18 0 0.00 20 8 28.57 - - - FZD7 0 genome.wustl.edu 37 2 202899764 202899764 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 202899764 202899764 G A SNP FZD7 ENST00000286201 human ensembl 69_37n +1 known missense c.394 p.E132K 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 39 0 0.00 62 7 10.14 - - - GABRA3 0 genome.wustl.edu 37 X 151366132 151366132 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 151366132 151366132 C G SNP GABRA3 ENST00000370311 human ensembl 69_37n -1 known missense c.904 p.E302Q 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,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 29 0 0.00 40 8 16.67 - - - GAK 0 genome.wustl.edu 37 4 860255 860255 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 860255 860255 G C SNP GAK ENST00000511980 human ensembl 69_37n -1 novel missense c.275 p.S92C 0.971 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GAK HGNC ENSG00000178950 40 0 0.00 35 4 10.26 - - - GALNT14 0 genome.wustl.edu 37 2 31165121 31165121 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 31165121 31165121 C G SNP GALNT14 ENST00000349752 human ensembl 69_37n -1 known missense c.877 p.D293H 0.958 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 43 0 0.00 34 8 19.05 - - - GANAB 0 genome.wustl.edu 37 11 62397082 62397082 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 62397082 62397082 G C SNP GANAB ENST00000346178 human ensembl 69_37n -1 known missense c.1878 p.F626L 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANAB HGNC ENSG00000089597 34 0 0.00 34 13 27.66 - - - GAS1 0 genome.wustl.edu 37 9 89560990 89560990 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 89560990 89560990 G C SNP GAS1 ENST00000298743 human ensembl 69_37n -1 known silent c.705 p.V235 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1 pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GAS1 HGNC ENSG00000180447 19 0 0.00 20 4 16.67 - - - GBF1 0 genome.wustl.edu 37 10 104129471 104129471 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 104129471 104129471 G A SNP GBF1 ENST00000369983 human ensembl 69_37n +1 known missense c.3151 p.E1051K 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC ENSG00000107862 30 0 0.00 25 8 24.24 - - - GEN1 0 genome.wustl.edu 37 2 17962027 17962027 + Silent SNP A A C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 17962027 17962027 A C SNP GEN1 ENST00000317402 human ensembl 69_37n +1 known silent c.1548 p.T516 0.000 NULL pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors GEN1 HGNC ENSG00000178295 42 0 0.00 30 11 26.83 - - - GFRA2 0 genome.wustl.edu 37 8 21560387 21560387 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 21560387 21560387 G C SNP GFRA2 ENST00000517328 human ensembl 69_37n -1 known missense c.1148 p.S383C 0.999 pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt_a2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC ENSG00000168546 74 0 0.00 54 11 16.92 - - - GID8 0 genome.wustl.edu 37 20 61572857 61572857 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 61572857 61572857 G A SNP GID8 ENST00000266069 human ensembl 69_37n +1 known missense c.3 p.M1I 1.000 NULL pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors GID8 HGNC ENSG00000101193 35 0 0.00 42 5 10.64 - - - GJB4 0 genome.wustl.edu 37 1 35227498 35227498 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 35227498 35227498 G A SNP GJB4 ENST00000339480 human ensembl 69_37n +1 known missense c.643 p.E215K 0.874 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin303 - no_errors GJB4 HGNC ENSG00000189433 48 0 0.00 49 8 14.04 - - - GLE1 0 genome.wustl.edu 37 9 131296228 131296228 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 131296228 131296228 G A SNP GLE1 ENST00000309971 human ensembl 69_37n +1 known silent c.1644 p.Q548 1.000 pfam_GLE1 pfam_GLE1 - no_errors GLE1 HGNC ENSG00000119392 56 0 0.00 51 9 15.00 - - - GLYR1 0 genome.wustl.edu 37 16 4882060 4882060 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 4882060 4882060 C T SNP GLYR1 ENST00000321919 human ensembl 69_37n -1 known missense c.457 p.E153K 1.000 NULL pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP - no_errors GLYR1 HGNC ENSG00000140632 61 0 0.00 52 21 28.77 - - - GNG12-AS1 0 genome.wustl.edu 37 1 68564475 68564475 + RNA SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 68564475 68564475 C A SNP GNG12-AS1 ENST00000413628 human ensembl 69_37n +1 known rna NULL NULL 0.008 - - - no_errors GNG12-AS1 HGNC ENSG00000232284 13 0 0.00 5 7 58.33 - - - GOLGA1 0 genome.wustl.edu 37 9 127689006 127689006 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 127689006 127689006 C T SNP GOLGA1 ENST00000373555 human ensembl 69_37n -1 known silent c.414 p.K138 0.744 NULL pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 20 0 0.00 11 4 26.67 - - - GON4L 0 genome.wustl.edu 37 1 155733174 155733174 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 155733174 155733174 G C SNP GON4L ENST00000368331 human ensembl 69_37n -1 known missense c.4655 p.S1552C 0.003 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 97 0 0.00 71 29 28.71 - - - GON4L 0 genome.wustl.edu 37 1 155823271 155823271 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 155823271 155823271 G A SNP GON4L ENST00000368331 human ensembl 69_37n -1 known nonsense c.301 p.Q101* 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 67 0 0.00 69 8 10.39 - - - GORAB 0 genome.wustl.edu 37 1 170508668 170508668 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 170508668 170508668 C T SNP GORAB ENST00000367763 human ensembl 69_37n +1 known missense c.454 p.P152S 0.999 NULL pfam_Golgin_RAB6-interacting - no_errors GORAB HGNC ENSG00000120370 51 0 0.00 56 11 16.42 - - - GPR112 0 genome.wustl.edu 37 X 135429149 135429149 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 135429149 135429149 C T SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.3284 p.S1095F 0.006 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 43 0 0.00 45 15 25.00 - - - GPR124 0 genome.wustl.edu 37 8 37690590 37690590 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 37690590 37690590 C T SNP GPR124 ENST00000412232 human ensembl 69_37n +1 known missense c.1160 p.S387L 0.998 pfam_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR124 HGNC ENSG00000020181 49 0 0.00 65 11 14.47 - - - GPR144 0 genome.wustl.edu 37 9 127220493 127220493 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 127220493 127220493 G C SNP GPR144 ENST00000334810 human ensembl 69_37n +1 known missense c.1663 p.E555Q 0.000 NULL pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,prints_Pentaxin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR144 HGNC ENSG00000180264 35 0 0.00 33 4 10.81 - - - GPR89A 0 genome.wustl.edu 37 1 145791155 145791155 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 145791155 145791155 C G SNP GPR89A ENST00000313835 human ensembl 69_37n -1 known silent c.633 p.R211 1.000 NULL pfam_ABA_GPCR_dom,pfam_Golgi_pH-regulator_cons_dom - no_errors GPR89A HGNC ENSG00000117262 11 0 0.00 9 5 35.71 - - - GPRASP2 0 genome.wustl.edu 37 X 101971235 101971235 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 101971235 101971235 G A SNP GPRASP2 ENST00000332262 human ensembl 69_37n +1 known missense c.1438 p.E480K 0.937 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 62 0 0.00 43 6 12.24 - - - GRIA2 0 genome.wustl.edu 37 4 158262534 158262534 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 158262534 158262534 G A SNP GRIA2 ENST00000264426 human ensembl 69_37n +1 known missense c.1963 p.E655K 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 57 0 0.00 45 7 13.46 - - - GRIN2D 0 genome.wustl.edu 37 19 48945552 48945552 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 48945552 48945552 C G SNP GRIN2D ENST00000263269 human ensembl 69_37n +1 known silent c.2586 p.V862 1.000 prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 29 0 0.00 51 11 17.74 - - - GRIN2D 0 genome.wustl.edu 37 19 48945555 48945555 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 48945555 48945555 C T SNP GRIN2D ENST00000263269 human ensembl 69_37n +1 known silent c.2589 p.F863 1.000 prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 31 0 0.00 50 11 18.03 - - - GSR 0 genome.wustl.edu 37 8 30553915 30553915 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 30553915 30553915 C G SNP GSR ENST00000520888 human ensembl 69_37n -1 novel missense c.637 p.D213H 0.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Hg_reductase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase - pseudogene:no_stop_codon GSR HGNC ENSG00000104687 30 0 0.00 19 7 26.92 - - - GTF2E2 0 genome.wustl.edu 37 8 30492575 30492575 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 30492575 30492575 G C SNP GTF2E2 ENST00000355904 human ensembl 69_37n -1 known missense c.232 p.L78V 1.000 pfam_TFIIE_bsu_DNA-bd,pirsf_TFIIE-bsu pfam_TFIIE_bsu_DNA-bd,pirsf_TFIIE-bsu - no_errors GTF2E2 HGNC ENSG00000197265 20 0 0.00 24 4 14.29 - - - GTPBP10 0 genome.wustl.edu 37 7 90014312 90014312 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 90014312 90014312 G C SNP GTPBP10 ENST00000222511 human ensembl 69_37n +1 known missense c.1008 p.K336N 0.340 pfam_ProtSyn_GTP-bd,pirsf_GTP-bd_Obg/CgtA pfam_GTP_binding_domain,pfam_GTP1_OBG_dom,pfam_Fe2_transport_prot_B_N,pfam_ProtSyn_GTP-bd,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain - no_errors GTPBP10 HGNC ENSG00000105793 29 0 0.00 35 4 10.26 - - - GUCA1B 0 genome.wustl.edu 37 6 42156389 42156389 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 42156389 42156389 C G SNP GUCA1B ENST00000230361 human ensembl 69_37n -1 known missense c.288 p.W96C 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors GUCA1B HGNC ENSG00000112599 42 0 0.00 45 12 21.05 - - - HCN3 0 genome.wustl.edu 37 1 155258262 155258262 + RNA SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 155258262 155258262 G C SNP HCN3 ENST00000496230 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors HCN3 HGNC ENSG00000143630 24 0 0.00 27 12 30.77 - - - HDAC10 0 genome.wustl.edu 37 22 50684419 50684419 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 22 50684419 50684419 G C SNP HDAC10 ENST00000216271 human ensembl 69_37n -1 known missense c.1753 p.L585V 0.883 NULL pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC10 HGNC ENSG00000100429 29 0 0.00 11 5 31.25 - - - HDAC5 0 genome.wustl.edu 37 17 42170727 42170727 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 42170727 42170727 C T SNP HDAC5 ENST00000225983 human ensembl 69_37n -1 known missense c.484 p.E162K 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 79 0 0.00 79 17 17.71 - - - HDAC5 0 genome.wustl.edu 37 17 42170740 42170740 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 42170740 42170740 C T SNP HDAC5 ENST00000225983 human ensembl 69_37n -1 known silent c.471 p.E157 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 80 0 0.00 91 16 14.95 - - - HDAC7 0 genome.wustl.edu 37 12 48184201 48184201 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 48184201 48184201 G A SNP HDAC7 ENST00000477937 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HDAC7 HGNC ENSG00000061273 12 0 0.00 8 5 38.46 - - - HDLBP 0 genome.wustl.edu 37 2 242176096 242176096 + Nonsense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 242176096 242176096 C A SNP HDLBP ENST00000373292 human ensembl 69_37n -1 novel nonsense c.2263 p.E755* 0.257 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HDLBP HGNC ENSG00000115677 63 0 0.00 76 15 16.48 - - - HEATR5A 0 genome.wustl.edu 37 14 31777119 31777119 + Missense_Mutation SNP A A T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 31777119 31777119 A T SNP HEATR5A ENST00000389961 human ensembl 69_37n -1 known missense c.4780 p.S1594T 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 41 0 0.00 47 6 11.32 - - - HEATR5B 0 genome.wustl.edu 37 2 37247806 37247806 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 37247806 37247806 G A SNP HEATR5B ENST00000233099 human ensembl 69_37n -1 known nonsense c.4027 p.Q1343* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 36 0 0.00 23 11 32.35 - - - HERC2 0 genome.wustl.edu 37 15 28436126 28436126 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 28436126 28436126 C T SNP HERC2 ENST00000261609 human ensembl 69_37n -1 known silent c.8634 p.L2878 0.628 superfamily_Galactose-bd-like pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 79 0 0.00 53 9 14.52 - - - HHLA1 0 genome.wustl.edu 37 8 133090093 133090093 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 133090093 133090093 G C SNP HHLA1 ENST00000414222 human ensembl 69_37n -1 known missense c.1051 p.R351G 0.000 NULL NULL - no_errors HHLA1 HGNC ENSG00000132297 31 0 0.00 28 4 12.50 - - - HHLA2 0 genome.wustl.edu 37 3 108081291 108081291 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 108081291 108081291 G C SNP HHLA2 ENST00000357759 human ensembl 69_37n +1 known missense c.1106 p.R369T 0.001 NULL pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors HHLA2 HGNC ENSG00000114455 33 0 0.00 33 9 21.43 - - - HIF1A 0 genome.wustl.edu 37 14 62162402 62162402 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 62162402 62162402 C T SNP HIF1A ENST00000553999 human ensembl 69_37n +1 known rna NULL NULL 0.925 - - - no_errors HIF1A HGNC ENSG00000100644 22 0 0.00 20 9 31.03 - - - HIST1H1C 0 genome.wustl.edu 37 6 26056117 26056117 + Silent SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 26056117 26056117 C A SNP HIST1H1C ENST00000343677 human ensembl 69_37n -1 known silent c.540 p.A180 1.000 prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 43 0 0.00 46 8 14.81 - - - HIVEP3 0 genome.wustl.edu 37 1 42047350 42047350 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 42047350 42047350 C G SNP HIVEP3 ENST00000247584 human ensembl 69_37n -1 known missense c.3119 p.R1040T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 31 0 0.00 29 6 17.14 - - - HLA-DQA1 0 genome.wustl.edu 37 6 32609762 32609762 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 32609762 32609762 C T SNP HLA-DQA1 ENST00000486548 human ensembl 69_37n +1 putative missense c.263 p.S88L 0.930 pfscan_Ig-like pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - pseudogene:no_stop_codon:bad_bp_length_for_coding_region HLA-DQA1 HGNC ENSG00000196735 73 0 0.00 73 17 18.89 - - - HLA-J 0 genome.wustl.edu 37 6 29974840 29974840 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 29974840 29974840 G A SNP HLA-J ENST00000462773 human ensembl 69_37n +1 known rna NULL NULL 0.329 - - - no_errors HLA-J HGNC ENSG00000204622 49 0 0.00 47 9 16.07 - - - HMCN2 0 genome.wustl.edu 37 9 133303800 133303800 + Silent SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 133303800 133303800 G T SNP HMCN2 ENST00000428715 human ensembl 69_37n +1 novel silent c.1251 p.V417 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like pfam_EGF-like_Ca-bd,pfam_G2_nidogen/fibulin_G2F,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Green_fluorescent_prot-like,superfamily_Growth_fac_rcpt,smart_Ig_sub,smart_Ig_sub2,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Ig-like - no_start_codon HMCN2 HGNC ENSG00000148357 49 0 0.00 38 16 29.63 - - - HMG20A 0 genome.wustl.edu 37 15 77771569 77771569 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 77771569 77771569 G A SNP HMG20A ENST00000336216 human ensembl 69_37n +1 known missense c.956 p.R319K 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMG20A HGNC ENSG00000140382 39 0 0.00 21 4 16.00 - - - HMGB3 0 genome.wustl.edu 37 X 150156382 150156382 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 150156382 150156382 G A SNP HMGB3 ENST00000325307 human ensembl 69_37n +1 known missense c.598 p.E200K 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGB3 HGNC ENSG00000029993 34 0 0.00 19 3 13.64 - - - HMGN1 0 genome.wustl.edu 37 21 40720491 40720491 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 21 40720491 40720491 C T SNP HMGN1 ENST00000380749 human ensembl 69_37n -1 known missense c.28 p.E10K 0.909 pfam_HMGN_fam,smart_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN1 HGNC ENSG00000205581 14 0 0.00 9 9 50.00 - - - HNRPDL 0 genome.wustl.edu 37 4 83346751 83346751 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 83346751 83346751 C G SNP HNRPDL ENST00000514511 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HNRPDL HGNC ENSG00000152795 26 0 0.00 32 5 13.51 - - - HOXA10 0 genome.wustl.edu 37 7 27211758 27211758 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 27211758 27211758 G A SNP HOXA10 ENST00000283921 human ensembl 69_37n -1 known silent c.993 p.L331 1.000 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA10 HGNC ENSG00000253293 23 0 0.00 26 9 25.71 - - - HOXC5 0 genome.wustl.edu 37 12 54427141 54427141 + Missense_Mutation SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 54427141 54427141 G T SNP HOXC5 ENST00000312492 human ensembl 69_37n +1 known missense c.235 p.A79S 0.997 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain - no_errors HOXC5 HGNC ENSG00000172789 41 0 0.00 54 7 11.48 - - - HPS5 0 genome.wustl.edu 37 11 18332956 18332956 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 18332956 18332956 C A SNP HPS5 ENST00000349215 human ensembl 69_37n -1 known missense c.262 p.D88Y 1.000 superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 22 0 0.00 18 4 18.18 - - - HRC 0 genome.wustl.edu 37 19 49657684 49657684 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 49657684 49657684 G A SNP HRC ENST00000252825 human ensembl 69_37n -1 known missense c.811 p.H271Y 0.007 pfam_Hist_rich_Ca-bd pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 53 0 0.00 63 14 18.18 - - - IGHG4 0 genome.wustl.edu 37 14 106090843 106090843 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 106090843 106090843 C T SNP IGHG4 ENST00000390543 human ensembl 69_37n -1 known silent c.954 p.Q318 0.369 pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon IGHG4 HGNC ENSG00000211892 124 0 0.00 157 31 16.49 - - - IGKV6D-41 0 genome.wustl.edu 37 2 90109020 90109020 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 90109020 90109020 C T SNP IGKV6D-41 ENST00000390271 human ensembl 69_37n +1 known silent c.285 p.I95 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV6D-41 HGNC ENSG00000211626 61 0 0.00 84 13 13.40 - - - IL16 0 genome.wustl.edu 37 15 81592433 81592433 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 81592433 81592433 C A SNP IL16 ENST00000558332 human ensembl 69_37n +1 putative missense c.677 p.P226H 0.282 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,prints_Interleukin-16,pfscan_PDZ - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IL16 HGNC ENSG00000172349 34 0 0.00 28 7 20.00 - - - IL1RL2 0 genome.wustl.edu 37 2 102851551 102851551 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 102851551 102851551 C T SNP IL1RL2 ENST00000264257 human ensembl 69_37n +1 known missense c.1492 p.P498S 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II,prints_IL1R_rcpt - no_errors IL1RL2 HGNC ENSG00000115598 50 0 0.00 59 10 14.49 - - - IMPG2 0 genome.wustl.edu 37 3 100949878 100949878 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 100949878 100949878 G C SNP IMPG2 ENST00000193391 human ensembl 69_37n -1 known missense c.3345 p.I1115M 0.898 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC ENSG00000081148 53 0 0.00 55 7 11.11 - - - ING1 0 genome.wustl.edu 37 13 111371686 111371686 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 111371686 111371686 G C SNP ING1 ENST00000375774 human ensembl 69_37n +1 known missense c.676 p.E226Q 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 52 0 0.00 66 12 15.38 - - - INO80 0 genome.wustl.edu 37 15 41319819 41319819 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 41319819 41319819 G C SNP INO80 ENST00000361937 human ensembl 69_37n -1 known missense c.3023 p.S1008C 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 41 0 0.00 26 4 13.33 - - - INSR 0 genome.wustl.edu 37 19 7172440 7172440 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 7172440 7172440 G C SNP INSR ENST00000302850 human ensembl 69_37n -1 known missense c.1129 p.L377V 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L 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 INSR HGNC ENSG00000171105 43 0 0.00 34 13 27.66 - - - INTS1 0 genome.wustl.edu 37 7 1539236 1539236 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 1539236 1539236 G A SNP INTS1 ENST00000389470 human ensembl 69_37n -1 known silent c.1101 p.I367 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 56 0 0.00 83 12 12.63 - - - INTS2 0 genome.wustl.edu 37 17 59984890 59984890 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 59984890 59984890 C T SNP INTS2 ENST00000444766 human ensembl 69_37n -1 known missense c.1084 p.E362K 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 69 0 0.00 64 9 12.33 - - - INTS2 0 genome.wustl.edu 37 17 59984941 59984941 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 59984941 59984941 G A SNP INTS2 ENST00000444766 human ensembl 69_37n -1 known silent c.1033 p.L345 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 53 0 0.00 45 15 25.00 - - - INTS4 0 genome.wustl.edu 37 11 77671428 77671428 + Missense_Mutation SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 77671428 77671428 G T SNP INTS4 ENST00000534064 human ensembl 69_37n -1 known missense c.667 p.H223N 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 64 0 0.00 61 9 12.86 - - - INTS4 0 genome.wustl.edu 37 11 77672127 77672127 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 77672127 77672127 G C SNP INTS4 ENST00000534064 human ensembl 69_37n -1 known missense c.529 p.L177V 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 46 0 0.00 36 6 14.29 - - - INTS8 0 genome.wustl.edu 37 8 95892416 95892416 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 95892416 95892416 G A SNP INTS8 ENST00000523731 human ensembl 69_37n +1 known missense c.2942 p.R981K 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 26 0 0.00 28 9 24.32 - - - IQCA1P1 0 genome.wustl.edu 37 7 150888108 150888108 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 150888108 150888108 C T SNP IQCA1P1 ENST00000453127 human ensembl 69_37n -1 known rna NULL NULL 0.953 - - - no_errors IQCA1P1 HGNC ENSG00000183016 163 0 0.00 183 25 12.02 - - - IQCD 0 genome.wustl.edu 37 12 113633544 113633544 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 113633544 113633544 C G SNP IQCD ENST00000416617 human ensembl 69_37n -1 known missense c.1186 p.E396Q 1.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCD HGNC ENSG00000166578 83 0 0.00 98 18 15.52 - - - IREB2 0 genome.wustl.edu 37 15 78765656 78765656 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 78765656 78765656 G A SNP IREB2 ENST00000258886 human ensembl 69_37n +1 known missense c.956 p.G319E 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 87 0 0.00 78 14 15.22 - - - IRF8 0 genome.wustl.edu 37 16 85936785 85936785 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 85936785 85936785 C A SNP IRF8 ENST00000268638 human ensembl 69_37n +1 known missense c.164 p.S55Y 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF8 HGNC ENSG00000140968 31 0 0.00 21 12 36.36 - - - IRS4 0 genome.wustl.edu 37 X 107979343 107979343 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 107979343 107979343 C T SNP IRS4 ENST00000372129 human ensembl 69_37n -1 known missense c.232 p.E78K 1.000 pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 78 0 0.00 74 23 23.71 - - - ITCH 0 genome.wustl.edu 37 20 33037238 33037238 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 33037238 33037238 C T SNP ITCH ENST00000262650 human ensembl 69_37n +1 known missense c.1286 p.S429L 1.000 superfamily_WW_Rsp5_WWP pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors ITCH HGNC ENSG00000078747 92 0 0.00 78 11 12.22 - - - ITGA6 0 genome.wustl.edu 37 2 173335758 173335758 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 173335758 173335758 G A SNP ITGA6 ENST00000264106 human ensembl 69_37n +1 known missense c.700 p.D234N 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 65 0 0.00 59 9 13.24 - - - ITSN1 0 genome.wustl.edu 37 21 35172111 35172111 + Splice_Site SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 21 35172111 35172111 G A SNP ITSN1 ENST00000381285 human ensembl 69_37n +1 known splice_site c.2183-1 e18-1 1.000 - - - no_errors ITSN1 HGNC ENSG00000205726 55 0 0.00 48 13 21.31 - - - JAKMIP3 0 genome.wustl.edu 37 10 133978209 133978209 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 133978209 133978209 G C SNP JAKMIP3 ENST00000298622 human ensembl 69_37n +1 known missense c.2454 p.Q818H 1.000 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 12 0 0.00 16 6 27.27 - - - KAT6A 0 genome.wustl.edu 37 8 41791980 41791980 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 41791980 41791980 G A SNP KAT6A ENST00000265713 human ensembl 69_37n -1 known missense c.3758 p.S1253F 0.995 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 96 0 0.00 102 17 14.29 - - - KCNA4 0 genome.wustl.edu 37 11 30033478 30033478 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 30033478 30033478 C G SNP KCNA4 ENST00000328224 human ensembl 69_37n -1 known missense c.748 p.D250H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 27 0 0.00 16 10 38.46 - - - KCNH7 0 genome.wustl.edu 37 2 163241399 163241399 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 163241399 163241399 G A SNP KCNH7 ENST00000332142 human ensembl 69_37n -1 known nonsense c.2761 p.Q921* 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 56 0 0.00 49 6 10.91 - - - KCNIP3 0 genome.wustl.edu 37 2 96051535 96051535 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 96051535 96051535 C G SNP KCNIP3 ENST00000377181 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors KCNIP3 HGNC ENSG00000115041 41 0 0.00 44 13 22.81 - - - KCNU1 0 genome.wustl.edu 37 8 36666298 36666298 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 36666298 36666298 G A SNP KCNU1 ENST00000399881 human ensembl 69_37n +1 known missense c.719 p.G240E 1.000 pfam_Ion_trans_2 pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 83 0 0.00 71 8 10.13 - - - KDM3B 0 genome.wustl.edu 37 5 137722119 137722119 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 137722119 137722119 G C SNP KDM3B ENST00000314358 human ensembl 69_37n +1 known missense c.1189 p.E397Q 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 38 0 0.00 26 6 18.75 - - - KDM4B 0 genome.wustl.edu 37 19 5077436 5077436 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 5077436 5077436 C T SNP KDM4B ENST00000159111 human ensembl 69_37n +1 known silent c.735 p.L245 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom 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 KDM4B HGNC ENSG00000127663 50 0 0.00 63 18 22.22 - - - KDM4B 0 genome.wustl.edu 37 19 5131263 5131263 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 5131263 5131263 G A SNP KDM4B ENST00000588361 human ensembl 69_37n +1 putative nonsense c.729 p.W243* 0.788 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KDM4B HGNC ENSG00000127663 21 0 0.00 17 4 19.05 - - - KIAA0368 0 genome.wustl.edu 37 9 114172339 114172339 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 114172339 114172339 G A SNP KIAA0368 ENST00000259335 human ensembl 69_37n -1 known silent c.3066 p.S1022 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 51 0 0.00 43 13 23.21 - - - KIAA0391 0 genome.wustl.edu 37 14 35596720 35596720 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 35596720 35596720 C T SNP KIAA0391 ENST00000534898 human ensembl 69_37n +1 known missense c.1070 p.S357F 1.000 NULL NULL - no_errors RP11-173D9.3 Clone_based_vega_gene ENSG00000100890 73 0 0.00 59 7 10.45 - - - KIAA1429 0 genome.wustl.edu 37 8 95504881 95504881 + Missense_Mutation SNP T T G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 95504881 95504881 T G SNP KIAA1429 ENST00000297591 human ensembl 69_37n -1 known missense c.4807 p.S1603R 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 29 0 0.00 38 5 11.63 - - - KIAA1549L 0 genome.wustl.edu 37 11 33564296 33564296 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 33564296 33564296 G C SNP KIAA1549L ENST00000389726 human ensembl 69_37n +1 known missense c.296 p.R99T 0.009 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 35 0 0.00 25 4 13.79 - - - KIAA1804 0 genome.wustl.edu 37 1 233507943 233507943 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 233507943 233507943 G A SNP KIAA1804 ENST00000366623 human ensembl 69_37n +1 known silent c.1712 p.*571 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain - no_errors RP5-862P8.2 Clone_based_vega_gene ENSG00000143674 52 0 0.00 56 35 38.46 - - - KIF19 0 genome.wustl.edu 37 17 72349061 72349061 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 72349061 72349061 G A SNP KIF19 ENST00000389916 human ensembl 69_37n +1 known silent c.2082 p.Q694 0.001 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 21 0 0.00 12 4 25.00 - - - KIF1B 0 genome.wustl.edu 37 1 10363814 10363814 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 10363814 10363814 C G SNP KIF1B ENST00000377083 human ensembl 69_37n +1 known silent c.2571 p.V857 0.978 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 26 0 0.00 24 5 17.24 - - - KIF20B 0 genome.wustl.edu 37 10 91492679 91492679 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 91492679 91492679 C G SNP KIF20B ENST00000416354 human ensembl 69_37n +1 known missense c.2411 p.S804C 0.944 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 43 0 0.00 49 7 12.50 - - - KIR3DL3 0 genome.wustl.edu 37 19 55246797 55246797 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 55246797 55246797 C T SNP KIR3DL3 ENST00000291860 human ensembl 69_37n +1 known missense c.1027 p.L343F 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2 - no_errors KIR3DL3 HGNC ENSG00000242019 40 0 0.00 69 11 13.75 - - - KLHL30 0 genome.wustl.edu 37 2 239059479 239059479 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 239059479 239059479 G A SNP KLHL30 ENST00000409223 human ensembl 69_37n +1 known missense c.1510 p.E504K 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL30 HGNC ENSG00000168427 90 0 0.00 96 16 14.29 - - - KLK11 0 genome.wustl.edu 37 19 51526440 51526440 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 51526440 51526440 C G SNP KLK11 ENST00000319756 human ensembl 69_37n -1 known missense c.604 p.E202Q 0.006 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK11 HGNC ENSG00000167757 48 0 0.00 64 8 11.11 - - - KLRD1 0 genome.wustl.edu 37 12 10462017 10462017 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 10462017 10462017 C G SNP KLRD1 ENST00000381908 human ensembl 69_37n +1 known missense c.38 p.S13C 0.578 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRD1 HGNC ENSG00000134539 53 0 0.00 45 7 13.46 - - - KRTAP10-5 0 genome.wustl.edu 37 21 45999959 45999959 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 21 45999959 45999959 G A SNP KRTAP10-5 ENST00000400372 human ensembl 69_37n -1 known missense c.497 p.S166F 0.000 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 115 1 0.86 119 30 20.13 - - - LAMA2 0 genome.wustl.edu 37 6 129608999 129608999 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 129608999 129608999 G A SNP LAMA2 ENST00000421865 human ensembl 69_37n +1 known missense c.2545 p.E849K 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,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 - no_errors LAMA2 HGNC ENSG00000196569 42 0 0.00 41 5 10.87 - - - LAMA4 0 genome.wustl.edu 37 6 112450216 112450216 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 112450216 112450216 G C SNP LAMA4 ENST00000230538 human ensembl 69_37n -1 known missense c.4195 p.L1399V 1.000 superfamily_ConA-like_lec_gl,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EGF-like,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 58 0 0.00 39 18 31.58 - - - LAMA5 0 genome.wustl.edu 37 20 60892512 60892512 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 60892512 60892512 G A SNP LAMA5 ENST00000252999 human ensembl 69_37n -1 known missense c.7400 p.P2467L 0.812 NULL 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 62 0 0.00 65 24 26.97 - - - LANCL3 0 genome.wustl.edu 37 X 37515015 37515015 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 37515015 37515015 G A SNP LANCL3 ENST00000378619 human ensembl 69_37n +1 known silent c.648 p.K216 1.000 pfam_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like,prints_LanC-like_prot_euk - no_errors LANCL3 HGNC ENSG00000147036 41 0 0.00 40 10 20.00 - - - LARP7 0 genome.wustl.edu 37 4 113568856 113568856 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 113568856 113568856 C T SNP LARP7 ENST00000511529 human ensembl 69_37n +1 novel missense c.389 p.S130F 0.937 NULL pfam_RRM_3 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LARP7 HGNC ENSG00000174720 74 0 0.00 21 7 25.00 - - - LCTL 0 genome.wustl.edu 37 15 66844149 66844149 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 66844149 66844149 C G SNP LCTL ENST00000341509 human ensembl 69_37n -1 known missense c.1375 p.D459H 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCTL HGNC ENSG00000188501 34 0 0.00 19 8 29.63 - - - LDB3 0 genome.wustl.edu 37 10 88476470 88476470 + Nonsense_Mutation SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 88476470 88476470 G T SNP LDB3 ENST00000429277 human ensembl 69_37n +1 known nonsense c.1633 p.E545* 1.000 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC ENSG00000122367 28 0 0.00 32 8 20.00 - - - LDHAL6CP 0 genome.wustl.edu 37 12 63397565 63397565 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 63397565 63397565 G A SNP LDHAL6CP ENST00000550738 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors LDHAL6CP HGNC ENSG00000250517 33 0 0.00 54 7 11.48 - - - LETM1 0 genome.wustl.edu 37 4 1838207 1838207 + Silent SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 1838207 1838207 C A SNP LETM1 ENST00000302787 human ensembl 69_37n -1 known silent c.687 p.V229 1.000 pfam_LETM1 pfam_LETM1,pfscan_EF_HAND_2 - no_errors LETM1 HGNC ENSG00000168924 85 0 0.00 104 14 11.86 - - - LETM1 0 genome.wustl.edu 37 4 1838230 1838230 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 1838230 1838230 C G SNP LETM1 ENST00000302787 human ensembl 69_37n -1 known missense c.664 p.E222Q 1.000 pfam_LETM1 pfam_LETM1,pfscan_EF_HAND_2 - no_errors LETM1 HGNC ENSG00000168924 94 0 0.00 108 17 13.60 - - - LETM1 0 genome.wustl.edu 37 4 1838291 1838291 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 1838291 1838291 C G SNP LETM1 ENST00000302787 human ensembl 69_37n -1 known silent c.603 p.R201 0.992 pfam_LETM1 pfam_LETM1,pfscan_EF_HAND_2 - no_errors LETM1 HGNC ENSG00000168924 87 0 0.00 104 14 11.86 - - - LGI2 0 genome.wustl.edu 37 4 25005573 25005573 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 25005573 25005573 C T SNP LGI2 ENST00000382114 human ensembl 69_37n -1 known missense c.1138 p.D380N 0.987 pfam_EPTP,pfscan_EAR pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 64 0 0.00 70 14 16.67 - - - LIG1 0 genome.wustl.edu 37 19 48640981 48640981 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 48640981 48640981 G A SNP LIG1 ENST00000542460 human ensembl 69_37n -1 known missense c.1027 p.H343Y 0.000 NULL pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N - no_errors LIG1 HGNC ENSG00000105486 129 0 0.00 138 28 16.77 - - - LIN28B 0 genome.wustl.edu 37 6 105406098 105406098 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 105406098 105406098 C A SNP LIN28B ENST00000345080 human ensembl 69_37n +1 known missense c.135 p.F45L 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,prints_CSP_DNA-bd,pfscan_Znf_CCHC - no_errors LIN28B HGNC ENSG00000187772 88 0 0.00 68 13 16.05 - - - LINC00029 0 genome.wustl.edu 37 20 61665871 61665871 + RNA SNP A A G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 61665871 61665871 A G SNP LINC00029 ENST00000370341 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors LINC00029 HGNC ENSG00000125514 21 0 0.00 27 5 15.62 - - - LINC00315 0 genome.wustl.edu 37 21 46722897 46722897 + RNA SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 21 46722897 46722897 G C SNP LINC00315 ENST00000441947 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors LINC00315 HGNC ENSG00000184274 16 0 0.00 20 4 16.67 - - - LMNB2 0 genome.wustl.edu 37 19 2434442 2434442 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 2434442 2434442 C G SNP LMNB2 ENST00000325327 human ensembl 69_37n -1 known missense c.1053 p.K351N 0.085 pfam_F pfam_F,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 44 0 0.00 42 11 20.75 - - - LPHN2 0 genome.wustl.edu 37 1 82456098 82456098 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 82456098 82456098 G A SNP LPHN2 ENST00000370717 human ensembl 69_37n +1 known missense c.3694 p.D1232N 1.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 30 0 0.00 23 6 20.69 - - - LPL 0 genome.wustl.edu 37 8 19797005 19797005 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 19797005 19797005 G A SNP LPL ENST00000311322 human ensembl 69_37n +1 known silent c.54 p.L18 0.967 pirsf_Lipoprotein_lipase_LIPH pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 17 0 0.00 20 5 20.00 - - - LRFN2 0 genome.wustl.edu 37 6 40400499 40400499 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 40400499 40400499 G A SNP LRFN2 ENST00000338305 human ensembl 69_37n -1 known silent c.354 p.D118 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN2 HGNC ENSG00000156564 26 0 0.00 30 5 14.29 - - - LRP2 0 genome.wustl.edu 37 2 170147508 170147508 + Splice_Site SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 170147508 170147508 C T SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known splice_site c.770-1 e8-1 1.000 - - - no_errors LRP2 HGNC ENSG00000081479 26 0 0.00 23 4 14.81 - - - LRRC31 0 genome.wustl.edu 37 3 169569529 169569529 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 169569529 169569529 G A SNP LRRC31 ENST00000316428 human ensembl 69_37n -1 known missense c.1037 p.S346L 0.998 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 31 0 0.00 39 8 17.02 - - - LRRC37A3 0 genome.wustl.edu 37 17 62856114 62856114 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 62856114 62856114 C G SNP LRRC37A3 ENST00000319651 human ensembl 69_37n -1 known missense c.4150 p.E1384Q 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 81 0 0.00 88 16 15.24 - - - LRRC47 0 genome.wustl.edu 37 1 3703586 3703586 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 3703586 3703586 C T SNP LRRC47 ENST00000378251 human ensembl 69_37n -1 known missense c.904 p.G302R 0.937 NULL pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd - no_errors LRRC47 HGNC ENSG00000130764 51 0 0.00 59 7 10.61 - - - LRRC63 0 genome.wustl.edu 37 13 46808427 46808427 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 46808427 46808427 G A SNP LRRC63 ENST00000446175 human ensembl 69_37n +1 known missense c.933 p.M311I 0.011 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC ENSG00000173988 54 0 0.00 42 11 20.75 - - - LRRC73 0 genome.wustl.edu 37 6 43475242 43475242 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 43475242 43475242 C T SNP LRRC73 ENST00000372441 human ensembl 69_37n -1 novel missense c.832 p.E278K 0.893 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC73 HGNC ENSG00000204052 27 0 0.00 24 8 25.00 - - - LRRIQ4 0 genome.wustl.edu 37 3 169539937 169539937 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 169539937 169539937 C G SNP LRRIQ4 ENST00000340806 human ensembl 69_37n +1 known silent c.228 p.L76 0.992 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 24 0 0.00 28 6 17.65 - - - LRRIQ4 0 genome.wustl.edu 37 3 169540268 169540268 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 169540268 169540268 C T SNP LRRIQ4 ENST00000340806 human ensembl 69_37n +1 known missense c.559 p.L187F 0.177 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 27 0 0.00 56 11 16.42 - - - LRRIQ4 0 genome.wustl.edu 37 3 169540270 169540270 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 169540270 169540270 C T SNP LRRIQ4 ENST00000340806 human ensembl 69_37n +1 known silent c.561 p.L187 0.001 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 27 0 0.00 55 10 15.38 - - - LRRIQ4 0 genome.wustl.edu 37 3 169540357 169540357 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 169540357 169540357 C G SNP LRRIQ4 ENST00000340806 human ensembl 69_37n +1 known missense c.648 p.F216L 0.994 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 49 0 0.00 50 10 16.67 - - - LRRK1 0 genome.wustl.edu 37 15 101555579 101555579 + Silent SNP A A G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 101555579 101555579 A G SNP LRRK1 ENST00000388948 human ensembl 69_37n +1 known silent c.1581 p.R527 1.000 NULL 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 41 0 0.00 31 8 20.51 - - - LSM1 0 genome.wustl.edu 37 8 38029500 38029500 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 38029500 38029500 C T SNP LSM1 ENST00000311351 human ensembl 69_37n -1 known missense c.98 p.R33K 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM1 HGNC ENSG00000175324 15 0 0.00 8 4 33.33 - - - LTA4H 0 genome.wustl.edu 37 12 96412987 96412987 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 96412987 96412987 C G SNP LTA4H ENST00000228740 human ensembl 69_37n -1 known missense c.670 p.E224Q 1.000 pfam_Peptidase_M1_N,tigrfam_Leukotriene_A4_hydrolase pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N,tigrfam_Leukotriene_A4_hydrolase - no_errors LTA4H HGNC ENSG00000111144 40 0 0.00 33 6 15.38 - - - LUC7L 0 genome.wustl.edu 37 16 278904 278904 + RNA SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 278904 278904 G C SNP LUC7L ENST00000494366 human ensembl 69_37n -1 putative rna NULL NULL 0.001 - - - no_errors LUC7L HGNC ENSG00000007392 22 0 0.00 23 4 14.81 - - - LUC7L3 0 genome.wustl.edu 37 17 48828520 48828520 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 48828520 48828520 C T SNP LUC7L3 ENST00000503798 human ensembl 69_37n +1 putative rna NULL NULL 1.000 - - - no_errors LUC7L3 HGNC ENSG00000108848 75 0 0.00 82 18 18.00 - - - LYST 0 genome.wustl.edu 37 1 235909789 235909789 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 235909789 235909789 G A SNP LYST ENST00000487530 human ensembl 69_37n -1 novel missense c.521 p.S174F 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LYST HGNC ENSG00000143669 57 0 0.00 43 30 41.10 - - - MACF1 0 genome.wustl.edu 37 1 39823290 39823290 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 39823290 39823290 G C SNP MACF1 ENST00000317713 human ensembl 69_37n +1 known missense c.5482 p.E1828Q 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 28 0 0.00 35 7 16.67 - - - MAGEB3 0 genome.wustl.edu 37 X 30254805 30254805 + Missense_Mutation SNP T T C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 30254805 30254805 T C SNP MAGEB3 ENST00000361644 human ensembl 69_37n +1 known missense c.764 p.L255P 0.030 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 48 0 0.00 42 6 12.50 - - - MAGI1 0 genome.wustl.edu 37 3 65344789 65344789 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 65344789 65344789 C T SNP MAGI1 ENST00000330909 human ensembl 69_37n -1 known missense c.3757 p.E1253K 1.000 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI1 HGNC ENSG00000151276 34 0 0.00 33 4 10.81 - - - MAGOHB 0 genome.wustl.edu 37 12 10758913 10758913 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 10758913 10758913 G A SNP MAGOHB ENST00000320756 human ensembl 69_37n -1 known silent c.408 p.F136 1.000 pfam_Mago_nashi,superfamily_Mago_nashi pfam_Mago_nashi,superfamily_Mago_nashi - no_errors MAGOHB HGNC ENSG00000111196 51 0 0.00 36 8 18.18 - - - MAP1B 0 genome.wustl.edu 37 5 71492254 71492254 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 71492254 71492254 C T SNP MAP1B ENST00000296755 human ensembl 69_37n +1 known silent c.3072 p.D1024 0.956 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 34 0 0.00 32 7 17.95 - - - MAP2K4 0 genome.wustl.edu 37 17 11958295 11958295 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 11958295 11958295 C T SNP MAP2K4 ENST00000415385 human ensembl 69_37n +1 known nonsense c.238 p.Q80* 1.000 NULL 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 MAP2K4 HGNC ENSG00000065559 22 0 0.00 9 6 40.00 - - - MAP4 0 genome.wustl.edu 37 3 47953733 47953733 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 47953733 47953733 C A SNP MAP4 ENST00000426837 human ensembl 69_37n -1 putative missense c.2229 p.W743C 1.000 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 36 0 0.00 31 4 11.43 - - - MAP4K4 0 genome.wustl.edu 37 2 102450874 102450874 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 102450874 102450874 G A SNP MAP4K4 ENST00000324219 human ensembl 69_37n +1 known missense c.643 p.D215N 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_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K4 HGNC ENSG00000071054 39 0 0.00 54 6 10.00 - - - MAPK6 0 genome.wustl.edu 37 15 52338064 52338064 + RNA SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 52338064 52338064 G C SNP MAPK6 ENST00000558063 human ensembl 69_37n +1 putative rna NULL NULL 1.000 - - - no_errors MAPK6 HGNC ENSG00000069956 50 0 0.00 39 5 11.36 - - - MAPK8IP3 0 genome.wustl.edu 37 16 1818302 1818302 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 1818302 1818302 C T SNP MAPK8IP3 ENST00000250894 human ensembl 69_37n +1 known missense c.3662 p.P1221L 0.997 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 36 0 0.00 27 13 32.50 - - - MARK4 0 genome.wustl.edu 37 19 45762346 45762346 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 45762346 45762346 G A SNP MARK4 ENST00000262891 human ensembl 69_37n +1 known missense c.151 p.E51K 0.999 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK4 HGNC ENSG00000007047 52 0 0.00 44 9 16.98 - - - MAS1L 0 genome.wustl.edu 37 6 29454735 29454735 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 29454735 29454735 G C SNP MAS1L ENST00000377127 human ensembl 69_37n -1 known missense c.945 p.F315L 0.983 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MAS1L HGNC ENSG00000204687 42 0 0.00 27 7 20.59 - - - MASTL 0 genome.wustl.edu 37 10 27459563 27459563 + Missense_Mutation SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 27459563 27459563 G T SNP MASTL ENST00000375940 human ensembl 69_37n +1 known missense c.1675 p.D559Y 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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 MASTL HGNC ENSG00000120539 34 0 0.00 29 5 14.71 - - - MBLAC1 0 genome.wustl.edu 37 7 99725743 99725743 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 99725743 99725743 C G SNP MBLAC1 ENST00000398075 human ensembl 69_37n +1 known missense c.725 p.S242W 0.000 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors MBLAC1 HGNC ENSG00000214309 42 0 0.00 46 9 16.36 - - - MBTPS2 0 genome.wustl.edu 37 X 21863500 21863500 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 21863500 21863500 G C SNP MBTPS2 ENST00000379484 human ensembl 69_37n +1 known missense c.436 p.V146L 1.000 prints_Pept_M50_SREBP pfam_Peptidase_M50,superfamily_PDZ,prints_Pept_M50_SREBP - no_errors MBTPS2 HGNC ENSG00000012174 62 0 0.00 45 6 11.76 - - - MCM3AP 0 genome.wustl.edu 37 21 47686981 47686981 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 21 47686981 47686981 C T SNP MCM3AP ENST00000291688 human ensembl 69_37n -1 known missense c.2704 p.D902N 1.000 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 25 0 0.00 25 12 31.58 - - - MCM3AP 0 genome.wustl.edu 37 21 47687012 47687012 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 21 47687012 47687012 C T SNP MCM3AP ENST00000291688 human ensembl 69_37n -1 known silent c.2673 p.V891 0.998 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 34 0 0.00 31 12 27.91 - - - MDH1B 0 genome.wustl.edu 37 2 207619836 207619836 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 207619836 207619836 C T SNP MDH1B ENST00000374412 human ensembl 69_37n -1 known missense c.807 p.M269I 0.004 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 48 0 0.00 51 9 15.00 - - - MEFV 0 genome.wustl.edu 37 16 3294475 3294475 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 3294475 3294475 G A SNP MEFV ENST00000219596 human ensembl 69_37n -1 known missense c.1724 p.S575L 0.784 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 94 0 0.00 97 47 32.64 - - - MEFV 0 genome.wustl.edu 37 16 3294548 3294548 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 3294548 3294548 G A SNP MEFV ENST00000219596 human ensembl 69_37n -1 known nonsense c.1651 p.Q551* 0.001 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 72 0 0.00 70 38 35.19 - - - MEFV 0 genome.wustl.edu 37 16 3299509 3299509 + Silent SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 3299509 3299509 G T SNP MEFV ENST00000219596 human ensembl 69_37n -1 known silent c.1182 p.I394 0.047 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 23 0 0.00 32 20 38.46 - - - MEGF8 0 genome.wustl.edu 37 19 42848852 42848852 + Nonsense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 42848852 42848852 C G SNP MEGF8 ENST00000251268 human ensembl 69_37n +1 known nonsense c.1964 p.S655* 1.000 NULL pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 57 0 0.00 57 17 22.97 - - - METTL21A 0 genome.wustl.edu 37 2 208485392 208485392 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 208485392 208485392 G A SNP METTL21A ENST00000272839 human ensembl 69_37n -1 novel silent c.286 p.L96 0.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21A HGNC ENSG00000144401 24 0 0.00 19 6 24.00 - - - MFSD12 0 genome.wustl.edu 37 19 3551104 3551104 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 3551104 3551104 G A SNP MFSD12 ENST00000398558 human ensembl 69_37n -1 known silent c.387 p.L129 0.997 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC ENSG00000161091 43 0 0.00 39 8 17.02 - - - MFSD12 0 genome.wustl.edu 37 19 3557256 3557256 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 3557256 3557256 G A SNP MFSD12 ENST00000398558 human ensembl 69_37n -1 known missense c.146 p.S49L 0.999 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC ENSG00000161091 10 0 0.00 13 8 38.10 - - - MGA 0 genome.wustl.edu 37 15 41961442 41961442 + Nonsense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 41961442 41961442 C G SNP MGA ENST00000219905 human ensembl 69_37n +1 known nonsense c.350 p.S117* 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 110 0 0.00 78 13 14.29 - - - MGAM 0 genome.wustl.edu 37 7 141781887 141781887 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 141781887 141781887 C G SNP MGAM ENST00000475668 human ensembl 69_37n +1 putative missense c.6051 p.I2017M 0.909 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 32 0 0.00 34 6 15.00 - - - MICAL3 0 genome.wustl.edu 37 22 18301756 18301756 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 22 18301756 18301756 C G SNP MICAL3 ENST00000441493 human ensembl 69_37n -1 known missense c.3671 p.R1224P 0.686 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 78 0 0.00 71 13 15.48 - - - MICALL2 0 genome.wustl.edu 37 7 1474033 1474033 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 1474033 1474033 G A SNP MICALL2 ENST00000471899 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors MICALL2 HGNC ENSG00000164877 36 0 0.00 41 11 21.15 - - - MID1 0 genome.wustl.edu 37 X 10535385 10535385 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 10535385 10535385 C T SNP MID1 ENST00000317552 human ensembl 69_37n -1 known missense c.203 p.R68Q 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 38 0 0.00 53 13 19.70 - - - MIR1257 0 genome.wustl.edu 37 20 60528681 60528681 + RNA SNP A A G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 60528681 60528681 A G SNP MIR1257 ENST00000408490 human ensembl 69_37n -1 known rna NULL NULL 0.012 - - - no_errors MIR1257 HGNC ENSG00000221417 27 0 0.00 35 4 10.26 - - - MIR3689D1 0 genome.wustl.edu 37 9 137741455 137741455 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 137741455 137741455 C G SNP MIR3689D1 ENST00000579706 human ensembl 69_37n -1 known rna NULL NULL 0.449 - - - no_errors MIR3689D1 HGNC ENSG00000265848 30 0 0.00 24 7 22.58 - - - MKI67IP 0 genome.wustl.edu 37 2 122493199 122493199 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 122493199 122493199 C G SNP MKI67IP ENST00000285814 human ensembl 69_37n -1 known missense c.233 p.R78T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MKI67IP HGNC ENSG00000155438 34 0 0.00 25 12 32.43 - - - MKL2 0 genome.wustl.edu 37 16 14345861 14345861 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 14345861 14345861 G A SNP MKL2 ENST00000341243 human ensembl 69_37n +1 known missense c.2513 p.G838E 0.989 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC ENSG00000186260 37 0 0.00 30 11 26.83 - - - MLH3 0 genome.wustl.edu 37 14 75509098 75509098 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 75509098 75509098 C T SNP MLH3 ENST00000355774 human ensembl 69_37n -1 known missense c.3363 p.M1121I 0.976 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 62 0 0.00 61 12 16.44 - - - MLL5 0 genome.wustl.edu 37 7 104748225 104748225 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 104748225 104748225 G A SNP MLL5 ENST00000257745 human ensembl 69_37n +1 known silent c.3321 p.L1107 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC ENSG00000005483 75 0 0.00 66 9 12.00 - - - MMS22L 0 genome.wustl.edu 37 6 97720877 97720877 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 97720877 97720877 G A SNP MMS22L ENST00000275053 human ensembl 69_37n -1 known silent c.402 p.L134 0.996 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 31 0 0.00 27 7 20.59 - - - MPG 0 genome.wustl.edu 37 16 135462 135462 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 135462 135462 C T SNP MPG ENST00000219431 human ensembl 69_37n +1 known nonsense c.583 p.Q195* 0.998 pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse - no_errors MPG HGNC ENSG00000103152 73 0 0.00 93 12 11.43 - - - MPV17L 0 genome.wustl.edu 37 16 15494712 15494712 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 15494712 15494712 C T SNP MPV17L ENST00000396385 human ensembl 69_37n +1 known silent c.379 p.L127 0.997 pfam_Mpv17_PMP22 pfam_Mpv17_PMP22 - no_errors MPV17L HGNC ENSG00000156968 56 0 0.00 46 10 17.86 - - - MRPS31P3 0 genome.wustl.edu 37 13 52744130 52744130 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 52744130 52744130 C T SNP MRPS31P3 ENST00000416599 human ensembl 69_37n -1 known rna NULL NULL 0.975 - - - no_errors RP11-64P12.8 Clone_based_vega_gene ENSG00000217576 80 0 0.00 58 10 14.71 - - - MRPS36 0 genome.wustl.edu 37 5 68513905 68513905 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 68513905 68513905 C T SNP MRPS36 ENST00000503793 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MRPS36 HGNC ENSG00000134056 12 0 0.00 10 4 28.57 - - - MSH6 0 genome.wustl.edu 37 2 48028099 48028099 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 48028099 48028099 G A SNP MSH6 ENST00000234420 human ensembl 69_37n +1 known missense c.2977 p.E993K 1.000 pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP - no_errors MSH6 HGNC ENSG00000116062 17 0 0.00 17 5 22.73 - - - MTHFD1 0 genome.wustl.edu 37 14 64924931 64924931 + Splice_Site SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 64924931 64924931 G A SNP MTHFD1 ENST00000216605 human ensembl 69_37n +1 known splice_site c.2887-1 e27-1 1.000 - - - no_errors MTHFD1 HGNC ENSG00000100714 40 0 0.00 25 9 26.47 - - - MTOR 0 genome.wustl.edu 37 1 11175548 11175548 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 11175548 11175548 C G SNP MTOR ENST00000490931 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors MTOR HGNC ENSG00000198793 39 0 0.00 29 4 12.12 - - - MUC17 0 genome.wustl.edu 37 7 100683067 100683067 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 100683067 100683067 C T SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known silent c.8370 p.S2790 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 69 0 0.00 75 15 16.67 - - - MUC6 0 genome.wustl.edu 37 11 1025239 1025239 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 1025239 1025239 C T SNP MUC6 ENST00000421673 human ensembl 69_37n -1 known silent c.2928 p.L976 0.997 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 25 0 0.00 42 6 12.50 - - - MX1 0 genome.wustl.edu 37 21 42812922 42812922 + Nonsense_Mutation SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 21 42812922 42812922 G T SNP MX1 ENST00000398598 human ensembl 69_37n +1 known nonsense c.700 p.E234* 1.000 pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors MX1 HGNC ENSG00000157601 23 0 0.00 30 5 14.29 - - - MYBPC3 0 genome.wustl.edu 37 11 47365084 47365084 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 47365084 47365084 G C SNP MYBPC3 ENST00000399249 human ensembl 69_37n -1 known silent c.1182 p.V394 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC3 HGNC ENSG00000134571 45 0 0.00 49 9 15.52 - - - MYO5C 0 genome.wustl.edu 37 15 52556402 52556402 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 52556402 52556402 C T SNP MYO5C ENST00000261839 human ensembl 69_37n -1 known silent c.1032 p.E344 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 35 0 0.00 30 6 16.67 - - - MYO9B 0 genome.wustl.edu 37 19 17212891 17212891 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 17212891 17212891 C G SNP MYO9B ENST00000397274 human ensembl 69_37n +1 known missense c.364 p.H122D 0.383 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 36 0 0.00 41 14 25.45 - - - MYSM1 0 genome.wustl.edu 37 1 59142677 59142677 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 59142677 59142677 C T SNP MYSM1 ENST00000472487 human ensembl 69_37n -1 known silent c.1311 p.L437 1.000 pfam_SWIRM,superfamily_Homeodomain-like,pfscan_SWIRM pfam_SWIRM,pfam_JAB1_Mov34_MPN_PAD1,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB1_Mov34_MPN_PAD1,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 82 0 0.00 61 9 12.86 - - - NAA16 0 genome.wustl.edu 37 13 41946442 41946442 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 41946442 41946442 G C SNP NAA16 ENST00000379406 human ensembl 69_37n +1 known missense c.2051 p.R684T 1.000 smart_TPR_repeat,pirsf_NatA_aux_su pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 37 0 0.00 31 10 24.39 - - - NAA25 0 genome.wustl.edu 37 12 112492334 112492334 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 112492334 112492334 C T SNP NAA25 ENST00000261745 human ensembl 69_37n -1 known missense c.1486 p.E496K 1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 38 0 0.00 24 6 20.00 - - - NAA25 0 genome.wustl.edu 37 12 112492344 112492344 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 112492344 112492344 C G SNP NAA25 ENST00000261745 human ensembl 69_37n -1 known silent c.1476 p.L492 1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 38 0 0.00 24 5 17.24 - - - NAALADL2 0 genome.wustl.edu 37 3 174581815 174581815 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 174581815 174581815 C G SNP NAALADL2 ENST00000473253 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors NAALADL2 HGNC ENSG00000177694 21 0 0.00 20 9 31.03 - - - NAB2 0 genome.wustl.edu 37 12 57485732 57485732 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 57485732 57485732 G C SNP NAB2 ENST00000300131 human ensembl 69_37n +1 known missense c.908 p.G303A 1.000 pfam_NAB_co-repressor_dom pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 37 0 0.00 46 16 25.81 - - - NAB2 0 genome.wustl.edu 37 12 57486867 57486867 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 57486867 57486867 G A SNP NAB2 ENST00000300131 human ensembl 69_37n +1 known missense c.1165 p.E389K 0.998 NULL pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 34 0 0.00 46 16 25.81 - - - NANOS3 0 genome.wustl.edu 37 19 13991286 13991286 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 13991286 13991286 C T SNP NANOS3 ENST00000339133 human ensembl 69_37n +1 known missense c.548 p.S183L 0.018 NULL pfam_Znf_nanos-typ - no_errors NANOS3 HGNC ENSG00000187556 38 0 0.00 50 15 23.08 - - - NCAPD3 0 genome.wustl.edu 37 11 134048630 134048630 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 134048630 134048630 G A SNP NCAPD3 ENST00000534548 human ensembl 69_37n -1 known missense c.2681 p.S894L 0.001 superfamily_ARM-type_fold,pirsf_Condns_HCP-6 superfamily_ARM-type_fold,pirsf_Condns_HCP-6 - no_errors NCAPD3 HGNC ENSG00000151503 41 0 0.00 28 8 22.22 - - - NCAPH 0 genome.wustl.edu 37 2 97035233 97035233 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 97035233 97035233 G A SNP NCAPH ENST00000240423 human ensembl 69_37n +1 known missense c.2161 p.E721K 1.000 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 61 0 0.00 56 10 15.15 - - - NCF1 0 genome.wustl.edu 37 7 74202954 74202954 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 74202954 74202954 C T SNP NCF1 ENST00000289473 human ensembl 69_37n +1 known silent c.957 p.L319 1.000 superfamily_SH3_domain pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,prints_P47PHOX,pfscan_Phox,pfscan_SH3_domain - no_errors NCF1 HGNC ENSG00000158517 63 0 0.00 66 9 12.00 - - - NCOA5 0 genome.wustl.edu 37 20 44695740 44695740 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 44695740 44695740 C T SNP NCOA5 ENST00000290231 human ensembl 69_37n -1 known missense c.583 p.E195K 1.000 NULL superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 47 0 0.00 51 9 15.00 - - - NCOA6 0 genome.wustl.edu 37 20 33329790 33329790 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 33329790 33329790 C T SNP NCOA6 ENST00000359003 human ensembl 69_37n -1 known missense c.4270 p.D1424N 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 55 0 0.00 47 16 25.40 - - - NCOR1 0 genome.wustl.edu 37 17 15965063 15965063 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 15965063 15965063 C T SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known missense c.5533 p.E1845K 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 35 0 0.00 23 4 14.81 - - - NDST3 0 genome.wustl.edu 37 4 119154241 119154241 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 119154241 119154241 G C SNP NDST3 ENST00000296499 human ensembl 69_37n +1 known missense c.1894 p.E632Q 1.000 pfam_Sulfotransferase_dom pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST3 HGNC ENSG00000164100 44 0 0.00 54 8 12.90 - - - NEFH 0 genome.wustl.edu 37 22 29885286 29885286 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 22 29885286 29885286 C T SNP NEFH ENST00000310624 human ensembl 69_37n +1 known missense c.1657 p.P553S 1.000 NULL pfam_F,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 26 0 0.00 13 10 43.48 - - - NEK10 0 genome.wustl.edu 37 3 27215993 27215993 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 27215993 27215993 C T SNP NEK10 ENST00000383771 human ensembl 69_37n -1 known missense c.649 p.E217K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors NEK10 HGNC ENSG00000163491 39 0 0.00 33 6 15.38 - - - NELL2 0 genome.wustl.edu 37 12 45000974 45000974 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 45000974 45000974 G A SNP NELL2 ENST00000437801 human ensembl 69_37n -1 known silent c.1791 p.F597 1.000 smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 43 0 0.00 32 9 21.95 - - - NEU3 0 genome.wustl.edu 37 11 74717362 74717362 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 74717362 74717362 C T SNP NEU3 ENST00000294064 human ensembl 69_37n +1 known missense c.1211 p.S404F 1.000 superfamily_Neuraminidase superfamily_Neuraminidase - no_errors NEU3 HGNC ENSG00000162139 69 0 0.00 93 16 14.68 - - - NFATC2 0 genome.wustl.edu 37 20 50140431 50140431 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 50140431 50140431 G C SNP NFATC2 ENST00000396009 human ensembl 69_37n -1 known missense c.349 p.P117A 1.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT,pfscan_RHD - no_errors NFATC2 HGNC ENSG00000101096 33 0 0.00 44 6 12.00 - - - NINL 0 genome.wustl.edu 37 20 25448084 25448084 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 25448084 25448084 C T SNP NINL ENST00000278886 human ensembl 69_37n -1 known missense c.3364 p.E1122K 0.010 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 37 0 0.00 50 6 10.71 - - - NKTR 0 genome.wustl.edu 37 3 42660574 42660574 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 42660574 42660574 C T SNP NKTR ENST00000232978 human ensembl 69_37n +1 known missense c.196 p.R66C 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 86 0 0.00 50 27 35.06 - - - NLRC5 0 genome.wustl.edu 37 16 57095611 57095611 + Nonsense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 57095611 57095611 C G SNP NLRC5 ENST00000540182 human ensembl 69_37n +1 known nonsense c.1157 p.S386* 0.999 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region NLRC5 HGNC ENSG00000140853 43 0 0.00 37 10 21.28 - - - NLRP8 0 genome.wustl.edu 37 19 56466955 56466955 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 56466955 56466955 C A SNP NLRP8 ENST00000291971 human ensembl 69_37n +1 known missense c.1531 p.Q511K 1.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 104 0 0.00 99 19 16.10 - - - NOP16 0 genome.wustl.edu 37 5 175813933 175813933 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 175813933 175813933 G A SNP NOP16 ENST00000502663 human ensembl 69_37n -1 known silent c.228 p.V76 0.309 NULL pfam_Ribosome_biogenesis_Nop16 - no_errors NOP16 HGNC ENSG00000048162 49 0 0.00 54 6 10.00 - - - NOS1 0 genome.wustl.edu 37 12 117718580 117718580 + Missense_Mutation SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 117718580 117718580 G T SNP NOS1 ENST00000317775 human ensembl 69_37n -1 known missense c.1474 p.Q492K 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 62 0 0.00 86 10 10.42 - - - NPC1L1 0 genome.wustl.edu 37 7 44573386 44573386 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 44573386 44573386 G A SNP NPC1L1 ENST00000289547 human ensembl 69_37n -1 known missense c.2233 p.P745S 1.000 pfam_Patched,pfscan_SSD pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 28 0 0.00 28 8 22.22 - - - NPR2 0 genome.wustl.edu 37 9 35800478 35800478 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 35800478 35800478 C G SNP NPR2 ENST00000342694 human ensembl 69_37n +1 known missense c.1216 p.Q406E 1.000 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 33 0 0.00 26 8 23.53 - - - NR1I2 0 genome.wustl.edu 37 3 119535970 119535970 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 119535970 119535970 C T SNP NR1I2 ENST00000337940 human ensembl 69_37n +1 known nonsense c.1333 p.Q445* 0.998 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 40 0 0.00 33 9 21.43 - - - NRG1 0 genome.wustl.edu 37 8 32621719 32621719 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 32621719 32621719 G A SNP NRG1 ENST00000338921 human ensembl 69_37n +1 known silent c.1746 p.E582 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EGF-like,pfscan_EG-like_dom,pfscan_Ig-like,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 32 0 0.00 18 5 21.74 - - - NRK 0 genome.wustl.edu 37 X 105144612 105144612 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 105144612 105144612 G A SNP NRK ENST00000428173 human ensembl 69_37n +1 known missense c.713 p.S238N 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_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 79 0 0.00 56 7 11.11 - - - NRXN1 0 genome.wustl.edu 37 2 51254725 51254725 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 51254725 51254725 G A SNP NRXN1 ENST00000402717 human ensembl 69_37n -1 known silent c.687 p.L229 1.000 smart_EGF-like,pfscan_EG-like_dom pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 8 0 0.00 3 5 62.50 - - - NSMAF 0 genome.wustl.edu 37 8 59500239 59500239 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 59500239 59500239 C G SNP NSMAF ENST00000427130 human ensembl 69_37n -1 known missense c.2326 p.E776Q 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 32 0 0.00 28 11 28.21 - - - NSUN4 0 genome.wustl.edu 37 1 46807666 46807666 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 46807666 46807666 C T SNP NSUN4 ENST00000498008 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors NSUN4 HGNC ENSG00000117481 59 0 0.00 34 5 12.82 - - - NSUN4 0 genome.wustl.edu 37 1 46808426 46808426 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 46808426 46808426 C T SNP NSUN4 ENST00000498008 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors NSUN4 HGNC ENSG00000117481 42 0 0.00 45 5 10.00 - - - NTNG2 0 genome.wustl.edu 37 9 135106788 135106788 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 135106788 135106788 G A SNP NTNG2 ENST00000372179 human ensembl 69_37n +1 known silent c.1161 p.E387 0.000 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 60 0 0.00 60 8 11.59 - - - NUP54 0 genome.wustl.edu 37 4 77069334 77069334 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 77069334 77069334 C G SNP NUP54 ENST00000510884 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors NUP54 HGNC ENSG00000138750 25 0 0.00 21 6 22.22 - - - NXF4 0 genome.wustl.edu 37 X 101821105 101821105 + RNA SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 101821105 101821105 G C SNP NXF4 ENST00000360035 human ensembl 69_37n +1 known rna NULL NULL 0.859 - - - no_errors NXF4 HGNC ENSG00000196970 42 0 0.00 32 9 21.95 - - - OR10H4 0 genome.wustl.edu 37 19 16060034 16060034 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 16060034 16060034 C T SNP OR10H4 ENST00000322107 human ensembl 69_37n +1 known silent c.217 p.L73 0.110 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10H4 HGNC ENSG00000176231 127 0 0.00 176 24 12.00 - - - OR10J5 0 genome.wustl.edu 37 1 159505112 159505112 + Nonsense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 159505112 159505112 G C SNP OR10J5 ENST00000334857 human ensembl 69_37n -1 known nonsense c.686 p.S229* 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR10J5 HGNC ENSG00000184155 31 0 0.00 43 5 10.42 - - - OR10W1 0 genome.wustl.edu 37 11 58034944 58034944 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 58034944 58034944 C A SNP OR10W1 ENST00000395079 human ensembl 69_37n -1 known missense c.387 p.L129F 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10W1 HGNC ENSG00000172772 32 0 0.00 26 5 16.13 - - - OR2G6 0 genome.wustl.edu 37 1 248685614 248685614 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 248685614 248685614 C G SNP OR2G6 ENST00000343414 human ensembl 69_37n +1 known missense c.667 p.Q223E 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 OR2G6 HGNC ENSG00000188558 63 0 0.00 86 13 13.13 - - - OR56A4 0 genome.wustl.edu 37 11 6024172 6024172 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 6024172 6024172 G A SNP OR56A4 ENST00000330728 human ensembl 69_37n -1 known silent c.207 p.L69 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR56A4 HGNC ENSG00000183389 21 0 0.00 22 14 38.89 - - - OR5C1 0 genome.wustl.edu 37 9 125551947 125551947 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 125551947 125551947 G A SNP OR5C1 ENST00000373680 human ensembl 69_37n +1 known missense c.736 p.G246S 0.971 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5C1 HGNC ENSG00000148215 23 0 0.00 21 11 34.38 - - - OR5D16 0 genome.wustl.edu 37 11 55606808 55606808 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 55606808 55606808 C G SNP OR5D16 ENST00000378396 human ensembl 69_37n +1 known missense c.581 p.S194C 0.000 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5D16 HGNC ENSG00000205029 88 0 0.00 63 9 12.50 - - - OR8D1 0 genome.wustl.edu 37 11 124180216 124180216 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 124180216 124180216 G A SNP OR8D1 ENST00000357821 human ensembl 69_37n -1 known silent c.447 p.F149 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 33 0 0.00 38 7 15.56 - - - OR8K5 0 genome.wustl.edu 37 11 55927282 55927282 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 55927282 55927282 G C SNP OR8K5 ENST00000313447 human ensembl 69_37n -1 known missense c.512 p.S171C 0.020 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 OR8K5 HGNC ENSG00000181752 29 0 0.00 27 4 12.90 - - - OSTM1 0 genome.wustl.edu 37 6 108395499 108395499 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 108395499 108395499 G A SNP OSTM1 ENST00000193322 human ensembl 69_37n -1 known silent c.357 p.F119 1.000 pfam_Osteopetrosis-assoc_TM_1 pfam_Osteopetrosis-assoc_TM_1 - no_errors OSTM1 HGNC ENSG00000081087 12 0 0.00 13 5 27.78 - - - OTOG 0 genome.wustl.edu 37 11 17600052 17600052 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 17600052 17600052 C T SNP OTOG ENST00000399391 human ensembl 69_37n +1 known missense c.2774 p.S925L 1.000 superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 24 0 0.00 19 9 32.14 - - - OTUD6A 0 genome.wustl.edu 37 X 69282995 69282995 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 69282995 69282995 C T SNP OTUD6A ENST00000338352 human ensembl 69_37n +1 known silent c.621 p.C207 0.459 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD6A HGNC ENSG00000189401 31 0 0.00 27 9 25.00 - - - P2RX6 0 genome.wustl.edu 37 22 21380774 21380774 + Silent SNP A A T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 22 21380774 21380774 A T SNP P2RX6 ENST00000413302 human ensembl 69_37n +1 known silent c.1194 p.R398 0.000 NULL pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX6 HGNC ENSG00000099957 49 0 0.00 66 11 14.29 - - - P4HTM 0 genome.wustl.edu 37 3 49041556 49041556 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 49041556 49041556 C T SNP P4HTM ENST00000444213 human ensembl 69_37n +1 putative nonsense c.538 p.Q180* 0.964 NULL NULL - no_start_codon:pseudogene:no_stop_codon P4HTM HGNC ENSG00000178467 34 0 0.00 26 12 31.58 - - - PABPC1L 0 genome.wustl.edu 37 20 43559250 43559250 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 43559250 43559250 G A SNP PABPC1L ENST00000217073 human ensembl 69_37n +1 known silent c.1122 p.R374 1.000 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 PABPC1L HGNC ENSG00000101104 44 0 0.00 42 8 16.00 - - - PAICS 0 genome.wustl.edu 37 4 57314710 57314710 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 57314710 57314710 G C SNP PAICS ENST00000264221 human ensembl 69_37n +1 known missense c.520 p.E174Q 1.000 pfam_SAICAR_synth pfam_SAICAR_synth,pfam_N5-CAIR_Mutase_PurE_dom,superfamily_N5-CAIR_Mutase_PurE_dom,tigrfam_N5-CAIR_Mutase_PurE_dom - no_errors PAICS HGNC ENSG00000128050 40 0 0.00 33 5 13.16 - - - PAN3 0 genome.wustl.edu 37 13 28855481 28855481 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 28855481 28855481 C G SNP PAN3 ENST00000380958 human ensembl 69_37n +1 known silent c.2349 p.L783 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom - no_errors PAN3 HGNC ENSG00000152520 25 0 0.00 20 6 23.08 - - - PAPSS1 0 genome.wustl.edu 37 4 108641343 108641343 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 108641343 108641343 G A SNP PAPSS1 ENST00000504987 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors PAPSS1 HGNC ENSG00000138801 59 0 0.00 58 18 23.68 - - - PCDH9 0 genome.wustl.edu 37 13 67205531 67205531 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 67205531 67205531 C A SNP PCDH9 ENST00000377865 human ensembl 69_37n -1 known missense c.3151 p.V1051F 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 38 0 0.00 27 20 42.55 - - - PCDHA8 0 genome.wustl.edu 37 5 140221572 140221572 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 140221572 140221572 C G SNP PCDHA8 ENST00000531613 human ensembl 69_37n +1 known silent c.666 p.L222 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 38 0 0.00 38 6 13.64 - - - PCDHGA1 0 genome.wustl.edu 37 5 140712607 140712607 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 140712607 140712607 G C SNP PCDHGA1 ENST00000517417 human ensembl 69_37n +1 known missense c.2356 p.E786Q 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 46 0 0.00 49 7 12.50 - - - PCDHGB8P 0 genome.wustl.edu 37 5 140807592 140807592 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 140807592 140807592 G A SNP PCDHGB8P ENST00000502926 human ensembl 69_37n +1 known rna NULL NULL 0.051 - - - no_errors PCDHGB8P HGNC ENSG00000248449 76 0 0.00 85 13 13.27 - - - PCNT 0 genome.wustl.edu 37 21 47766851 47766851 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 21 47766851 47766851 C T SNP PCNT ENST00000359568 human ensembl 69_37n +1 known silent c.915 p.L305 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 31 0 0.00 21 4 16.00 - - - PCSK5 0 genome.wustl.edu 37 9 78804114 78804114 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 78804114 78804114 G A SNP PCSK5 ENST00000545128 human ensembl 69_37n +1 known missense c.2485 p.E829K 0.988 superfamily_Growth_fac_rcpt pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 49 0 0.00 50 11 18.03 - - - PDE3A 0 genome.wustl.edu 37 12 20709646 20709646 + Splice_Site SNP T T A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 20709646 20709646 T A SNP PDE3A ENST00000359062 human ensembl 69_37n +1 known splice_site c.1011+2 e2+2 0.998 - - - no_errors PDE3A HGNC ENSG00000172572 26 0 0.00 20 4 16.67 - - - PDE4B 0 genome.wustl.edu 37 1 66829094 66829094 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 66829094 66829094 G C SNP PDE4B ENST00000329654 human ensembl 69_37n +1 known missense c.1124 p.R375T 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 34 0 0.00 34 5 12.82 - - - PDZD2 0 genome.wustl.edu 37 5 32087471 32087471 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 32087471 32087471 G A SNP PDZD2 ENST00000282493 human ensembl 69_37n +1 known missense c.3917 p.R1306Q 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 20 0 0.00 10 11 52.38 - - - PDZD2 0 genome.wustl.edu 37 5 32109108 32109108 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 32109108 32109108 C T SNP PDZD2 ENST00000513490 human ensembl 69_37n +1 known rna NULL NULL 0.988 - - - no_errors PDZD2 HGNC ENSG00000133401 36 0 0.00 33 10 23.26 - - - PELP1 0 genome.wustl.edu 37 17 4576547 4576547 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 4576547 4576547 C G SNP PELP1 ENST00000301396 human ensembl 69_37n -1 known missense c.2275 p.E759Q 0.994 pfam_Uncharacterised_NUC202 pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 33 0 0.00 23 12 34.29 - - - PGK1 0 genome.wustl.edu 37 X 77359848 77359848 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 77359848 77359848 C G SNP PGK1 ENST00000373316 human ensembl 69_37n +1 known missense c.11 p.S4C 1.000 NULL pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK1 HGNC ENSG00000102144 47 0 0.00 38 5 11.63 - - - PHF12 0 genome.wustl.edu 37 17 27239657 27239657 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 27239657 27239657 C T SNP PHF12 ENST00000332830 human ensembl 69_37n -1 known silent c.1932 p.K644 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 68 0 0.00 59 12 16.67 - - - PHF15 0 genome.wustl.edu 37 5 133898055 133898055 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 133898055 133898055 G C SNP PHF15 ENST00000448712 human ensembl 69_37n +1 known missense c.898 p.E300Q 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 53 0 0.00 55 9 14.06 - - - PHF20L1 0 genome.wustl.edu 37 8 133823350 133823350 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 133823350 133823350 G A SNP PHF20L1 ENST00000315808 human ensembl 69_37n +1 known missense c.907 p.E303K 0.995 pfam_DUF3776 pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 58 0 0.00 41 10 19.61 - - - PHKB 0 genome.wustl.edu 37 16 47730305 47730305 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 47730305 47730305 C T SNP PHKB ENST00000299167 human ensembl 69_37n +1 known missense c.2909 p.S970L 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 63 0 0.00 41 22 34.92 - - - PHRF1 0 genome.wustl.edu 37 11 591405 591405 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 591405 591405 G A SNP PHRF1 ENST00000264555 human ensembl 69_37n +1 known missense c.442 p.D148N 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 68 0 0.00 69 8 10.39 - - - PICALM 0 genome.wustl.edu 37 11 85692951 85692951 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 85692951 85692951 C T SNP PICALM ENST00000393346 human ensembl 69_37n -1 known missense c.1612 p.D538N 1.000 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors PICALM HGNC ENSG00000073921 76 0 0.00 46 20 30.30 - - - PIEZO2 0 genome.wustl.edu 37 18 10759833 10759833 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 18 10759833 10759833 C G SNP PIEZO2 ENST00000582913 human ensembl 69_37n -1 known silent c.3492 p.L1164 0.998 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 32 0 0.00 18 7 28.00 - - - PIH1D1 0 genome.wustl.edu 37 19 49952758 49952758 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 49952758 49952758 C A SNP PIH1D1 ENST00000262265 human ensembl 69_37n -1 known missense c.311 p.G104V 1.000 NULL NULL - no_errors PIH1D1 HGNC ENSG00000104872 41 0 0.00 43 12 21.82 - - - PIH1D1 0 genome.wustl.edu 37 19 49954100 49954100 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 49954100 49954100 C T SNP PIH1D1 ENST00000262265 human ensembl 69_37n -1 known silent c.96 p.S32 0.989 NULL NULL - no_errors PIH1D1 HGNC ENSG00000104872 47 0 0.00 52 29 35.37 - - - PIK3C2G 0 genome.wustl.edu 37 12 18793483 18793483 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 18793483 18793483 G A SNP PIK3C2G ENST00000538779 human ensembl 69_37n +1 known missense c.4303 p.E1435K 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 32 0 0.00 42 12 22.22 - - - PIK3CA 0 genome.wustl.edu 37 3 178916854 178916854 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 178916854 178916854 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.241 p.E81K 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 48 0 0.00 52 19 26.76 - - - PIK3CA 0 genome.wustl.edu 37 3 178928079 178928079 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 178928079 178928079 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1357 p.E453K 1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 19 0 0.00 21 6 22.22 - - - PIK3CG 0 genome.wustl.edu 37 7 106526648 106526648 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 106526648 106526648 G C SNP PIK3CG ENST00000359195 human ensembl 69_37n +1 known missense c.2941 p.E981Q 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 19 0 0.00 19 4 17.39 - - - PJA1 0 genome.wustl.edu 37 X 68381728 68381728 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 68381728 68381728 C G SNP PJA1 ENST00000361478 human ensembl 69_37n -1 known missense c.1354 p.E452Q 0.428 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 79 0 0.00 98 19 16.24 - - - PKD1L3 0 genome.wustl.edu 37 16 71967854 71967854 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 71967854 71967854 C T SNP PKD1L3 ENST00000335106 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors PKD1L3 HGNC ENSG00000187008 38 0 0.00 26 12 31.58 - - - PKD1L3 0 genome.wustl.edu 37 16 71969322 71969322 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 71969322 71969322 C G SNP PKD1L3 ENST00000335106 human ensembl 69_37n -1 known rna NULL NULL 0.353 - - - no_errors PKD1L3 HGNC ENSG00000187008 49 0 0.00 26 6 18.75 - - - PKD2L1 0 genome.wustl.edu 37 10 102056047 102056047 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 102056047 102056047 G C SNP PKD2L1 ENST00000318222 human ensembl 69_37n -1 known silent c.1188 p.L396 0.997 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 36 0 0.00 43 10 18.87 - - - PKN3 0 genome.wustl.edu 37 9 131482032 131482032 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 131482032 131482032 G A SNP PKN3 ENST00000291906 human ensembl 69_37n +1 known silent c.2193 p.L731 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_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN3 HGNC ENSG00000160447 54 0 0.00 47 13 21.67 - - - PKP3 0 genome.wustl.edu 37 11 397562 397562 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 397562 397562 C T SNP PKP3 ENST00000331563 human ensembl 69_37n +1 known missense c.968 p.S323L 0.766 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 55 0 0.00 62 11 15.07 - - - PLBD2 0 genome.wustl.edu 37 12 113824889 113824889 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 113824889 113824889 G A SNP PLBD2 ENST00000280800 human ensembl 69_37n +1 known silent c.1434 p.L478 0.003 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 32 0 0.00 30 6 16.67 - - - PLEKHA6 0 genome.wustl.edu 37 1 204228735 204228735 + Nonsense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 204228735 204228735 C A SNP PLEKHA6 ENST00000272203 human ensembl 69_37n -1 known nonsense c.658 p.E220* 0.991 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 50 0 0.00 46 26 36.11 - - - PLEKHH2 0 genome.wustl.edu 37 2 43926827 43926827 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 43926827 43926827 G A SNP PLEKHH2 ENST00000282406 human ensembl 69_37n +1 known missense c.730 p.E244K 0.992 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 20 0 0.00 27 6 18.18 - - - PLEKHH3 0 genome.wustl.edu 37 17 40826403 40826403 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 40826403 40826403 G A SNP PLEKHH3 ENST00000591022 human ensembl 69_37n -1 known nonsense c.187 p.Q63* 0.997 NULL pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 63 0 0.00 53 12 18.46 - - - PLXNA1 0 genome.wustl.edu 37 3 126722189 126722189 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 126722189 126722189 C T SNP PLXNA1 ENST00000393409 human ensembl 69_37n +1 known missense c.1394 p.S465L 0.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC ENSG00000114554 74 0 0.00 77 22 22.22 - - - POLA1 0 genome.wustl.edu 37 X 24717574 24717574 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 24717574 24717574 C G SNP POLA1 ENST00000379068 human ensembl 69_37n +1 known missense c.76 p.R26G 1.000 NULL pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 88 0 0.00 75 9 10.71 - - - POLQ 0 genome.wustl.edu 37 3 121217467 121217467 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 121217467 121217467 G A SNP POLQ ENST00000264233 human ensembl 69_37n -1 known silent c.2010 p.F670 1.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 66 0 0.00 63 13 17.11 - - - POLR1D 0 genome.wustl.edu 37 13 28196057 28196057 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 28196057 28196057 C G SNP POLR1D ENST00000465887 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors POLR1D HGNC ENSG00000186184 68 0 0.00 44 24 35.29 - - - POU1F1 0 genome.wustl.edu 37 3 87309196 87309196 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 87309196 87309196 G C SNP POU1F1 ENST00000344265 human ensembl 69_37n -1 known missense c.802 p.Q268E 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU1F1 HGNC ENSG00000064835 41 0 0.00 29 10 25.64 - - - POU4F2 0 genome.wustl.edu 37 4 147561215 147561215 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 147561215 147561215 C G SNP POU4F2 ENST00000281321 human ensembl 69_37n +1 known missense c.485 p.S162W 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 36 0 0.00 52 10 16.13 - - - POU5F2 0 genome.wustl.edu 37 5 93076634 93076634 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 93076634 93076634 C G SNP POU5F2 ENST00000510627 human ensembl 69_37n -1 known missense c.636 p.W212C 0.993 superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_POU pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU5F2 HGNC ENSG00000248483 47 0 0.00 54 6 10.00 - - - POU6F1 0 genome.wustl.edu 37 12 51591678 51591678 + RNA SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 51591678 51591678 G T SNP POU6F1 ENST00000552305 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors POU6F1 HGNC ENSG00000184271 39 0 0.00 37 7 15.91 - - - POU6F2 0 genome.wustl.edu 37 7 39503959 39503959 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 39503959 39503959 G A SNP POU6F2 ENST00000403058 human ensembl 69_37n +1 known missense c.1750 p.E584K 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 32 0 0.00 38 14 26.92 - - - PPAPDC2 0 genome.wustl.edu 37 9 4662873 4662873 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 4662873 4662873 G C SNP PPAPDC2 ENST00000381883 human ensembl 69_37n +1 known silent c.498 p.L166 0.990 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC2 HGNC ENSG00000205808 37 0 0.00 58 13 18.31 - - - PPFIA3 0 genome.wustl.edu 37 19 49652821 49652821 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 49652821 49652821 C T SNP PPFIA3 ENST00000334186 human ensembl 69_37n +1 known silent c.3372 p.F1124 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 51 0 0.00 34 17 33.33 - - - PPIL6 0 genome.wustl.edu 37 6 109757394 109757394 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 109757394 109757394 C G SNP PPIL6 ENST00000521072 human ensembl 69_37n -1 known missense c.144 p.K48N 0.851 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom - no_errors PPIL6 HGNC ENSG00000185250 45 0 0.00 37 17 31.48 - - - PPL 0 genome.wustl.edu 37 16 4934664 4934664 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 4934664 4934664 G A SNP PPL ENST00000345988 human ensembl 69_37n -1 known missense c.3992 p.S1331F 0.065 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 51 0 0.00 43 26 37.68 - - - PPP1CA 0 genome.wustl.edu 37 11 67168587 67168587 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 67168587 67168587 G A SNP PPP1CA ENST00000312989 human ensembl 69_37n -1 known silent c.172 p.L58 1.000 smart_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CA HGNC ENSG00000172531 26 0 0.00 29 13 30.95 - - - PPP1R32 0 genome.wustl.edu 37 11 61250191 61250191 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 61250191 61250191 G A SNP PPP1R32 ENST00000338608 human ensembl 69_37n +1 known missense c.292 p.D98N 0.801 NULL NULL - no_errors PPP1R32 HGNC ENSG00000162148 84 0 0.00 86 23 21.10 - - - PPP2R4 0 genome.wustl.edu 37 9 131898844 131898844 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 131898844 131898844 C T SNP PPP2R4 ENST00000452489 human ensembl 69_37n +1 known missense c.760 p.P254S 1.000 pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac - no_errors PPP2R4 HGNC ENSG00000119383 68 0 0.00 58 9 13.43 - - - PPP2R5C 0 genome.wustl.edu 37 14 102349833 102349833 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 102349833 102349833 G A SNP PPP2R5C ENST00000422945 human ensembl 69_37n +1 known missense c.656 p.R219K 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC ENSG00000078304 65 0 0.00 42 12 22.22 - - - PPP4R1L 0 genome.wustl.edu 37 20 56838576 56838576 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 56838576 56838576 C T SNP PPP4R1L ENST00000462333 human ensembl 69_37n -1 known rna NULL NULL 0.988 - - - no_errors PPP4R1L HGNC ENSG00000124224 21 0 0.00 18 4 18.18 - - - PPP5C 0 genome.wustl.edu 37 19 46878932 46878932 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 46878932 46878932 G C SNP PPP5C ENST00000012443 human ensembl 69_37n +1 known missense c.435 p.Q145H 1.000 pfam_PPP_dom,pirsf_Ser/Thr_PPase_5 pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 43 0 0.00 40 6 13.04 - - - PPYR1 0 genome.wustl.edu 37 10 47087782 47087782 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 47087782 47087782 C G SNP PPYR1 ENST00000374312 human ensembl 69_37n +1 known missense c.999 p.I333M 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_NPY4_rcpt,prints_NPY_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_NPY4_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PPYR1 HGNC ENSG00000204174 112 0 0.00 136 16 10.53 - - - PRAMEF18 0 genome.wustl.edu 37 1 13474917 13474917 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 13474917 13474917 C T SNP PRAMEF18 ENST00000376126 human ensembl 69_37n -1 known silent c.1212 p.L404 0.002 NULL NULL - no_errors PRAMEF18 HGNC ENSG00000204491 52 0 0.00 60 8 11.76 - - - PRMT2 0 genome.wustl.edu 37 21 48071892 48071892 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 21 48071892 48071892 C G SNP PRMT2 ENST00000334494 human ensembl 69_37n +1 novel missense c.829 p.L277V 0.004 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 57 0 0.00 63 19 22.89 - - - PROM1 0 genome.wustl.edu 37 4 15995622 15995622 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 15995622 15995622 G A SNP PROM1 ENST00000447510 human ensembl 69_37n -1 known silent c.1755 p.L585 0.974 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 37 0 0.00 37 6 13.95 - - - PRPF19 0 genome.wustl.edu 37 11 60668823 60668823 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 60668823 60668823 C G SNP PRPF19 ENST00000227524 human ensembl 69_37n -1 known missense c.586 p.E196Q 1.000 NULL pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF19 HGNC ENSG00000110107 83 0 0.00 50 6 10.71 - - - PRPS2 0 genome.wustl.edu 37 X 12840921 12840921 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 12840921 12840921 G A SNP PRPS2 ENST00000460102 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PRPS2 HGNC ENSG00000101911 47 0 0.00 48 8 14.29 - - - PRR14 0 genome.wustl.edu 37 16 30663158 30663158 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 30663158 30663158 G A SNP PRR14 ENST00000300835 human ensembl 69_37n +1 known missense c.65 p.R22Q 0.506 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 89 0 0.00 88 34 27.64 - - - PRRG3 0 genome.wustl.edu 37 X 150873749 150873749 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 150873749 150873749 C T SNP PRRG3 ENST00000448324 human ensembl 69_37n +1 known silent c.153 p.F51 0.000 NULL NULL - no_start_codon PRRG3 HGNC ENSG00000130032 66 0 0.00 51 7 12.07 - - - PRUNE2 0 genome.wustl.edu 37 9 79322053 79322053 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 79322053 79322053 C T SNP PRUNE2 ENST00000428286 human ensembl 69_37n -1 known missense c.4060 p.E1354K 0.000 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 38 0 0.00 42 7 14.29 - - - PSMA6 0 genome.wustl.edu 37 14 35782079 35782079 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 35782079 35782079 C G SNP PSMA6 ENST00000553809 human ensembl 69_37n +1 novel silent c.420 p.L140 0.014 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA6 HGNC ENSG00000100902 34 0 0.00 37 8 17.78 - - - PTCH2 0 genome.wustl.edu 37 1 45289025 45289025 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 45289025 45289025 C T SNP PTCH2 ENST00000372192 human ensembl 69_37n -1 known silent c.3147 p.L1049 0.994 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 35 0 0.00 27 5 15.62 - - - PTPRB 0 genome.wustl.edu 37 12 71029497 71029497 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 71029497 71029497 G A SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known silent c.405 p.V135 0.998 superfamily_Ricin_B_lectin pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 37 0 0.00 46 15 24.59 - - - PVT1 0 genome.wustl.edu 37 8 128808275 128808275 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 128808275 128808275 C G SNP PVT1 ENST00000518528 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PVT1 HGNC ENSG00000249859 38 0 0.00 27 10 27.03 - - - RAB3D 0 genome.wustl.edu 37 19 11446153 11446153 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 11446153 11446153 C T SNP RAB3D ENST00000222120 human ensembl 69_37n -1 known missense c.442 p.E148K 1.000 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3D HGNC ENSG00000105514 40 0 0.00 67 8 10.67 - - - RAB3GAP2 0 genome.wustl.edu 37 1 220335565 220335565 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 220335565 220335565 G A SNP RAB3GAP2 ENST00000358951 human ensembl 69_37n -1 known missense c.3200 p.S1067F 1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 34 0 0.00 37 13 26.00 - - - RAB43 0 genome.wustl.edu 37 3 128810100 128810100 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 128810100 128810100 C G SNP RAB43 ENST00000315150 human ensembl 69_37n -1 known missense c.478 p.E160Q 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB43 HGNC ENSG00000172780 35 0 0.00 42 8 16.00 - - - RAD23A 0 genome.wustl.edu 37 19 13059579 13059579 + Nonstop_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 13059579 13059579 G C SNP RAD23A ENST00000586375 human ensembl 69_37n +1 known nonstop c.77 p.*26S 1.000 pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RAD23A HGNC ENSG00000179262 26 0 0.00 39 5 11.36 - - - RAG1 0 genome.wustl.edu 37 11 36595236 36595236 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 36595236 36595236 C G SNP RAG1 ENST00000299440 human ensembl 69_37n +1 known missense c.382 p.P128A 0.996 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 47 0 0.00 28 17 37.78 - - - RALGAPB 0 genome.wustl.edu 37 20 37150316 37150316 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 37150316 37150316 G A SNP RALGAPB ENST00000262879 human ensembl 69_37n +1 known missense c.1594 p.E532K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC ENSG00000170471 30 0 0.00 24 6 20.00 - - - RANBP10 0 genome.wustl.edu 37 16 67839359 67839359 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 67839359 67839359 C T SNP RANBP10 ENST00000317506 human ensembl 69_37n -1 known missense c.319 p.V107M 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 50 0 0.00 42 7 14.29 - - - RAP1A 0 genome.wustl.edu 37 1 112234037 112234037 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 112234037 112234037 C G SNP RAP1A ENST00000356415 human ensembl 69_37n +1 known missense c.55 p.L19V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP1A HGNC ENSG00000116473 45 0 0.00 51 11 17.74 - - - RARRES3 0 genome.wustl.edu 37 11 63312301 63312301 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 63312301 63312301 G A SNP RARRES3 ENST00000255688 human ensembl 69_37n +1 known silent c.327 p.V109 0.000 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 43 0 0.00 72 17 19.10 - - - RARS2 0 genome.wustl.edu 37 6 88299660 88299660 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 88299660 88299660 G A SNP RARS2 ENST00000369536 human ensembl 69_37n -1 known missense c.16 p.R6C 0.853 superfamily_Arg-tRNA-synth_N pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia - no_errors RARS2 HGNC ENSG00000146282 66 0 0.00 91 41 31.06 - - - RBM15B 0 genome.wustl.edu 37 3 51430965 51430965 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 51430965 51430965 C T SNP RBM15B ENST00000323686 human ensembl 69_37n +1 novel missense c.2135 p.S712L 0.881 superfamily_SPOC-like,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 47 0 0.00 31 9 22.50 - - - RBMX 0 genome.wustl.edu 37 X 135956543 135956543 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 135956543 135956543 C T SNP RBMX ENST00000320676 human ensembl 69_37n -1 known missense c.934 p.D312N 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 91 0 0.00 96 15 13.51 - - - RBP3 0 genome.wustl.edu 37 10 48388468 48388468 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 48388468 48388468 C G SNP RBP3 ENST00000224600 human ensembl 69_37n -1 known missense c.2410 p.E804Q 0.948 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 53 0 0.00 65 31 32.29 - - - RECK 0 genome.wustl.edu 37 9 36085236 36085236 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 36085236 36085236 G A SNP RECK ENST00000479053 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RECK HGNC ENSG00000122707 48 0 0.00 47 10 17.54 - - - RFX8 0 genome.wustl.edu 37 2 102038224 102038224 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 102038224 102038224 C A SNP RFX8 ENST00000376826 human ensembl 69_37n -1 known missense c.538 p.D180Y 0.999 NULL pfam_DNA-bd_RFX - no_errors RFX8 HGNC ENSG00000196460 43 0 0.00 31 6 16.22 - - - RMND5A 0 genome.wustl.edu 37 2 86993036 86993036 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 86993036 86993036 C T SNP RMND5A ENST00000283632 human ensembl 69_37n +1 known missense c.743 p.S248L 1.000 smart_CRA_dom smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5A HGNC ENSG00000153561 67 0 0.00 84 14 14.29 - - - RN7SKP5 0 genome.wustl.edu 37 13 46824343 46824343 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 46824343 46824343 G A SNP RN7SKP5 ENST00000517045 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RN7SKP5 HGNC ENSG00000252854 29 0 0.00 20 7 25.93 - - - RNF123 0 genome.wustl.edu 37 3 49736493 49736493 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 49736493 49736493 C G SNP RNF123 ENST00000327697 human ensembl 69_37n +1 known missense c.719 p.S240C 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 41 0 0.00 40 6 13.04 - - - RNF168 0 genome.wustl.edu 37 3 196199119 196199119 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 196199119 196199119 C T SNP RNF168 ENST00000318037 human ensembl 69_37n -1 known silent c.1287 p.L429 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 20 0 0.00 16 7 30.43 - - - RNF168 0 genome.wustl.edu 37 3 196199266 196199266 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 196199266 196199266 C T SNP RNF168 ENST00000318037 human ensembl 69_37n -1 known silent c.1140 p.L380 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 45 0 0.00 39 11 22.00 - - - RNF213 0 genome.wustl.edu 37 17 78320002 78320002 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 78320002 78320002 C G SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known missense c.7867 p.Q2623E 1.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 37 0 0.00 42 5 10.64 - - - RNF31 0 genome.wustl.edu 37 14 24617260 24617260 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 24617260 24617260 C T SNP RNF31 ENST00000324103 human ensembl 69_37n +1 known nonsense c.268 p.Q90* 0.991 pfam_PUB_domain pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 63 0 0.00 69 11 13.75 - - - ROBO1 0 genome.wustl.edu 37 3 78700970 78700970 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 78700970 78700970 C T SNP ROBO1 ENST00000464233 human ensembl 69_37n -1 known nonsense c.2724 p.W908* 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 62 0 0.00 42 17 28.81 - - - ROR2 0 genome.wustl.edu 37 9 94495670 94495670 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 94495670 94495670 G A SNP ROR2 ENST00000375708 human ensembl 69_37n -1 known missense c.671 p.S224L 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors ROR2 HGNC ENSG00000169071 45 0 0.00 67 9 11.84 - - - RP1 0 genome.wustl.edu 37 8 55539243 55539243 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 55539243 55539243 C T SNP RP1 ENST00000220676 human ensembl 69_37n +1 known missense c.2801 p.S934L 0.214 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 29 0 0.00 36 6 14.29 - - - RPL22L1 0 genome.wustl.edu 37 3 170584177 170584177 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 170584177 170584177 C G SNP RPL22L1 ENST00000295830 human ensembl 69_37n -1 known missense c.361 p.E121Q 1.000 NULL pfam_Ribosomal_L22e - no_errors RPL22L1 HGNC ENSG00000163584 27 0 0.00 21 9 30.00 - - - RPP40 0 genome.wustl.edu 37 6 4996298 4996298 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 4996298 4996298 G C SNP RPP40 ENST00000380051 human ensembl 69_37n -1 known missense c.780 p.F260L 0.986 pfam_RNase_P_Rpp40 pfam_RNase_P_Rpp40 - no_errors RPP40 HGNC ENSG00000124787 26 0 0.00 25 7 21.88 - - - RRAD 0 genome.wustl.edu 37 16 66958816 66958816 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 66958816 66958816 C G SNP RRAD ENST00000299759 human ensembl 69_37n -1 known missense c.267 p.E89D 0.484 smart_Small_GTPase_Ras,pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAD HGNC ENSG00000166592 12 0 0.00 12 15 55.56 - - - RRAGC 0 genome.wustl.edu 37 1 39311645 39311645 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 39311645 39311645 G C SNP RRAGC ENST00000373001 human ensembl 69_37n -1 known silent c.1014 p.V338 0.997 NULL pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su - no_errors RRAGC HGNC ENSG00000116954 50 0 0.00 41 8 16.33 - - - RRM1 0 genome.wustl.edu 37 11 4133204 4133204 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 4133204 4133204 G C SNP RRM1 ENST00000300738 human ensembl 69_37n +1 known missense c.562 p.E188Q 1.000 pfam_Ribncl_Rdtase_lsu_N,superfamily_Ribnucl_Rdtase_R1-su_N,tigrfam_NrdE_NrdA pfam_Ribncl_red_lg_C,pfam_Ribncl_Rdtase_lsu_N,pfam_ATP-cone,superfamily_Ribnucl_Rdtase_R1-su_N,pfscan_ATP-cone,prints_Ribncl_red_lg_C,tigrfam_NrdE_NrdA - no_errors RRM1 HGNC ENSG00000167325 41 0 0.00 31 7 18.42 - - - RSBN1 0 genome.wustl.edu 37 1 114308679 114308679 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 114308679 114308679 G A SNP RSBN1 ENST00000261441 human ensembl 69_37n -1 known missense c.2332 p.P778S 0.999 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 48 0 0.00 73 11 13.10 - - - RSPH3 0 genome.wustl.edu 37 6 159420602 159420602 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 159420602 159420602 C T SNP RSPH3 ENST00000252655 human ensembl 69_37n -1 known missense c.407 p.R136Q 0.000 NULL pfam_Radial_spoke_3 - no_errors RSPH3 HGNC ENSG00000130363 61 0 0.00 84 14 14.29 - - - RYR3 0 genome.wustl.edu 37 15 34113753 34113753 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 34113753 34113753 C T SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known silent c.10945 p.L3649 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 32 0 0.00 29 8 21.62 - - - S100PBP 0 genome.wustl.edu 37 1 33321706 33321706 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 33321706 33321706 C G SNP S100PBP ENST00000527692 human ensembl 69_37n +1 putative rna NULL NULL 0.875 - - - no_errors S100PBP HGNC ENSG00000116497 26 0 0.00 23 10 30.30 - - - SATB1 0 genome.wustl.edu 37 3 18390766 18390766 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 18390766 18390766 C T SNP SATB1 ENST00000338745 human ensembl 69_37n -1 known missense c.2188 p.E730K 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 31 0 0.00 33 5 13.16 - - - SCAMP1 0 genome.wustl.edu 37 5 77714654 77714654 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 77714654 77714654 C G SNP SCAMP1 ENST00000320280 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SCAMP1 HGNC ENSG00000085365 43 0 0.00 43 5 10.42 - - - SCN10A 0 genome.wustl.edu 37 3 38783794 38783794 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 38783794 38783794 C G SNP SCN10A ENST00000449082 human ensembl 69_37n -1 known missense c.2094 p.Q698H 0.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 24 0 0.00 17 5 22.73 - - - SCN5A 0 genome.wustl.edu 37 3 38601833 38601833 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 38601833 38601833 G A SNP SCN5A ENST00000333535 human ensembl 69_37n -1 known silent c.4050 p.I1350 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 34 0 0.00 42 8 16.00 - - - SCN5A 0 genome.wustl.edu 37 3 38647444 38647444 + Nonsense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 38647444 38647444 C A SNP SCN5A ENST00000333535 human ensembl 69_37n -1 known nonsense c.1336 p.E446* 0.999 prints_Na_channel_a5su pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 60 0 0.00 78 10 11.36 - - - SCN7A 0 genome.wustl.edu 37 2 167266302 167266302 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 167266302 167266302 C G SNP SCN7A ENST00000409855 human ensembl 69_37n -1 known missense c.3855 p.W1285C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 36 0 0.00 20 8 28.57 - - - SCUBE1 0 genome.wustl.edu 37 22 43623467 43623467 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 22 43623467 43623467 C T SNP SCUBE1 ENST00000360835 human ensembl 69_37n -1 known missense c.1120 p.D374N 0.999 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 46 0 0.00 66 15 18.52 - - - SCYL2 0 genome.wustl.edu 37 12 100704969 100704969 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 100704969 100704969 G C SNP SCYL2 ENST00000360820 human ensembl 69_37n +1 known missense c.628 p.E210Q 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,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SCYL2 HGNC ENSG00000136021 70 0 0.00 51 10 16.39 - - - SDK1 0 genome.wustl.edu 37 7 4213923 4213923 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 4213923 4213923 G A SNP SDK1 ENST00000404826 human ensembl 69_37n +1 known missense c.4870 p.E1624K 0.956 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 29 0 0.00 45 9 16.67 - - - SDPR 0 genome.wustl.edu 37 2 192711414 192711414 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 192711414 192711414 C T SNP SDPR ENST00000304141 human ensembl 69_37n -1 known missense c.238 p.E80K 1.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 102 0 0.00 93 40 30.08 - - - SDPR 0 genome.wustl.edu 37 2 192711603 192711603 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 192711603 192711603 C G SNP SDPR ENST00000304141 human ensembl 69_37n -1 known missense c.49 p.D17H 0.016 NULL NULL - no_errors SDPR HGNC ENSG00000168497 88 0 0.00 96 40 29.20 - - - SEC24D 0 genome.wustl.edu 37 4 119649793 119649793 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 119649793 119649793 C T SNP SEC24D ENST00000379735 human ensembl 69_37n -1 known missense c.2884 p.E962K 1.000 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC ENSG00000150961 42 0 0.00 36 4 10.00 - - - SEL1L2 0 genome.wustl.edu 37 20 13830022 13830022 + RNA SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 13830022 13830022 G C SNP SEL1L2 ENST00000482196 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SEL1L2 HGNC ENSG00000101251 49 0 0.00 41 11 21.15 - - - SEL1L2 0 genome.wustl.edu 37 20 13830047 13830047 + RNA SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 13830047 13830047 G C SNP SEL1L2 ENST00000482196 human ensembl 69_37n -1 known rna NULL NULL 0.271 - - - no_errors SEL1L2 HGNC ENSG00000101251 60 0 0.00 55 15 21.43 - - - SENP6 0 genome.wustl.edu 37 6 76385692 76385692 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 76385692 76385692 C G SNP SENP6 ENST00000370014 human ensembl 69_37n +1 known missense c.1543 p.Q515E 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 41 0 0.00 26 13 33.33 - - - SEPT7P2 0 genome.wustl.edu 37 7 45797717 45797717 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 45797717 45797717 G A SNP SEPT7P2 ENST00000338231 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SEPT7P2 HGNC ENSG00000214765 145 1 0.68 136 20 12.82 - - - SERF2 0 genome.wustl.edu 37 15 44091854 44091854 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 44091854 44091854 C T SNP SERF2 ENST00000409291 human ensembl 69_37n +1 putative missense c.112 p.R38C 0.000 NULL NULL - no_errors SERF2 HGNC ENSG00000140264 40 0 0.00 36 8 18.18 - - - SERINC2 0 genome.wustl.edu 37 1 31896623 31896623 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 31896623 31896623 C G SNP SERINC2 ENST00000373710 human ensembl 69_37n +1 known missense c.150 p.I50M 0.996 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC ENSG00000168528 39 0 0.00 53 11 17.19 - - - SERINC2 0 genome.wustl.edu 37 1 31896632 31896632 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 31896632 31896632 C T SNP SERINC2 ENST00000373710 human ensembl 69_37n +1 known silent c.159 p.F53 0.974 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC ENSG00000168528 42 0 0.00 56 10 15.15 - - - SERPINB10 0 genome.wustl.edu 37 18 61585256 61585256 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 18 61585256 61585256 G C SNP SERPINB10 ENST00000238508 human ensembl 69_37n +1 known missense c.292 p.E98Q 0.999 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB10 HGNC ENSG00000242550 49 0 0.00 39 6 13.33 - - - SERPINB10 0 genome.wustl.edu 37 18 61602231 61602231 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 18 61602231 61602231 C T SNP SERPINB10 ENST00000238508 human ensembl 69_37n +1 known nonsense c.949 p.Q317* 0.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB10 HGNC ENSG00000242550 50 0 0.00 41 15 26.79 - - - SERPINB9 0 genome.wustl.edu 37 6 2890790 2890790 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 2890790 2890790 G A SNP SERPINB9 ENST00000380698 human ensembl 69_37n -1 known silent c.738 p.L246 0.991 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB9 HGNC ENSG00000170542 25 0 0.00 30 9 23.08 - - - SERPINE1 0 genome.wustl.edu 37 7 100773724 100773724 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 100773724 100773724 C T SNP SERPINE1 ENST00000223095 human ensembl 69_37n +1 known silent c.294 p.L98 0.961 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINE1 HGNC ENSG00000106366 51 0 0.00 49 8 14.04 - - - SETD2 0 genome.wustl.edu 37 3 47122395 47122395 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 47122395 47122395 C T SNP SETD2 ENST00000492397 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SETD2 HGNC ENSG00000181555 31 0 0.00 32 7 17.95 - - - SETD2 0 genome.wustl.edu 37 3 47122398 47122398 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 47122398 47122398 C T SNP SETD2 ENST00000492397 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SETD2 HGNC ENSG00000181555 30 0 0.00 32 7 17.95 - - - SETD2 0 genome.wustl.edu 37 3 47122419 47122419 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 47122419 47122419 C T SNP SETD2 ENST00000492397 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SETD2 HGNC ENSG00000181555 33 0 0.00 34 7 17.07 - - - SGPL1 0 genome.wustl.edu 37 10 72604358 72604358 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 72604358 72604358 G C SNP SGPL1 ENST00000373202 human ensembl 69_37n +1 known silent c.156 p.L52 0.914 NULL pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SGPL1 HGNC ENSG00000166224 51 0 0.00 72 9 11.11 - - - SH2B2 0 genome.wustl.edu 37 7 101943912 101943912 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 101943912 101943912 C T SNP SH2B2 ENST00000536178 human ensembl 69_37n +1 known silent c.207 p.F69 1.000 pfam_Phe_ZIP,superfamily_Phe_ZIP pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,prints_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors SH2B2 HGNC ENSG00000160999 11 0 0.00 11 7 38.89 - - - SH3RF1 0 genome.wustl.edu 37 4 170037744 170037744 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 170037744 170037744 C T SNP SH3RF1 ENST00000284637 human ensembl 69_37n -1 known silent c.1815 p.V605 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 49 0 0.00 28 14 33.33 - - - SIGLEC1 0 genome.wustl.edu 37 20 3686615 3686615 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 3686615 3686615 G A SNP SIGLEC1 ENST00000344754 human ensembl 69_37n -1 known missense c.482 p.S161F 1.000 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC ENSG00000088827 46 0 0.00 46 10 17.86 - - - SIGLEC11 0 genome.wustl.edu 37 19 50463852 50463852 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 50463852 50463852 C T SNP SIGLEC11 ENST00000447370 human ensembl 69_37n -1 known silent c.417 p.V139 0.001 smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC11 HGNC ENSG00000161640 64 0 0.00 72 8 10.00 - - - SIM1 0 genome.wustl.edu 37 6 100896443 100896443 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 100896443 100896443 G C SNP SIM1 ENST00000262901 human ensembl 69_37n -1 known missense c.655 p.P219A 1.000 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors SIM1 HGNC ENSG00000112246 57 0 0.00 49 22 30.99 - - - SIRT7 0 genome.wustl.edu 37 17 79875438 79875438 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 79875438 79875438 G A SNP SIRT7 ENST00000576004 human ensembl 69_37n -1 putative missense c.16 p.R6C 0.000 NULL pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin - no_errors SIRT7 HGNC ENSG00000187531 43 0 0.00 56 28 33.33 - - - SKI 0 genome.wustl.edu 37 1 2236018 2236018 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 2236018 2236018 C T SNP SKI ENST00000378536 human ensembl 69_37n +1 known silent c.1761 p.L587 0.004 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 52 0 0.00 52 10 16.13 - - - SKOR1 0 genome.wustl.edu 37 15 68122549 68122549 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 68122549 68122549 C T SNP SKOR1 ENST00000380035 human ensembl 69_37n +1 known missense c.2428 p.H810Y 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 43 0 0.00 37 7 15.91 - - - SLC10A6 0 genome.wustl.edu 37 4 87745030 87745030 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 87745030 87745030 C T SNP SLC10A6 ENST00000273905 human ensembl 69_37n -1 known silent c.945 p.L315 0.797 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 78 0 0.00 88 21 19.27 - - - SLC10A6 0 genome.wustl.edu 37 4 87745039 87745039 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 87745039 87745039 C G SNP SLC10A6 ENST00000273905 human ensembl 69_37n -1 known missense c.936 p.K312N 1.000 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 75 0 0.00 90 21 18.92 - - - SLC22A10 0 genome.wustl.edu 37 11 63064904 63064904 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 63064904 63064904 C T SNP SLC22A10 ENST00000332793 human ensembl 69_37n +1 known silent c.636 p.I212 0.002 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 42 0 0.00 39 13 25.00 - - - SLC25A12 0 genome.wustl.edu 37 2 172641902 172641902 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 172641902 172641902 C T SNP SLC25A12 ENST00000422440 human ensembl 69_37n -1 known missense c.1919 p.R640K 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 68 0 0.00 64 28 30.43 - - - SLC25A6 0 genome.wustl.edu 37 X 1510815 1510815 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 1510815 1510815 C G SNP SLC25A6 ENST00000381401 human ensembl 69_37n -1 known missense c.88 p.E30Q 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 58 0 0.00 74 21 22.11 - - - SLC26A4 0 genome.wustl.edu 37 7 107329554 107329554 + Nonsense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 107329554 107329554 C G SNP SLC26A4 ENST00000265715 human ensembl 69_37n +1 known nonsense c.1058 p.S353* 0.923 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 65 0 0.00 60 10 14.29 - - - SLC35F1 0 genome.wustl.edu 37 6 118596740 118596740 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 118596740 118596740 G A SNP SLC35F1 ENST00000360388 human ensembl 69_37n +1 known missense c.756 p.M252I 1.000 pfam_DUF914_euk,pfam_DMT pfam_DUF914_euk,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 90 0 0.00 83 15 15.31 - - - SLC39A12 0 genome.wustl.edu 37 10 18254617 18254617 + Nonsense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 18254617 18254617 C G SNP SLC39A12 ENST00000377369 human ensembl 69_37n +1 known nonsense c.749 p.S250* 0.350 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 37 0 0.00 38 6 13.64 - - - SLC39A5 0 genome.wustl.edu 37 12 56629024 56629024 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 56629024 56629024 C T SNP SLC39A5 ENST00000266980 human ensembl 69_37n +1 known missense c.718 p.R240C 0.542 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 53 0 0.00 63 11 14.86 - - - SLC45A3 0 genome.wustl.edu 37 1 205627918 205627918 + RNA SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 205627918 205627918 G C SNP SLC45A3 ENST00000460934 human ensembl 69_37n -1 known rna NULL NULL 0.016 - - - no_errors SLC45A3 HGNC ENSG00000158715 44 0 0.00 60 27 31.03 - - - SLC6A14 0 genome.wustl.edu 37 X 115585533 115585533 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 115585533 115585533 G A SNP SLC6A14 ENST00000371900 human ensembl 69_37n +1 known missense c.1329 p.M443I 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 68 0 0.00 71 11 13.41 - - - SLC9A5 0 genome.wustl.edu 37 16 67298294 67298294 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 67298294 67298294 G A SNP SLC9A5 ENST00000299798 human ensembl 69_37n +1 known missense c.1882 p.A628T 0.653 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 44 0 0.00 40 22 34.92 - - - SMARCA2 0 genome.wustl.edu 37 9 2039490 2039490 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 2039490 2039490 C T SNP SMARCA2 ENST00000349721 human ensembl 69_37n +1 known missense c.380 p.P127L 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 34 0 0.00 50 9 15.25 - - - SMC2 0 genome.wustl.edu 37 9 106889684 106889684 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 106889684 106889684 G A SNP SMC2 ENST00000286398 human ensembl 69_37n +1 known missense c.2713 p.D905N 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 42 0 0.00 36 5 12.20 - - - SMG7 0 genome.wustl.edu 37 1 183522252 183522252 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 183522252 183522252 C G SNP SMG7 ENST00000507469 human ensembl 69_37n +1 known missense c.3453 p.F1151L 0.012 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 22 0 0.00 11 8 42.11 - - - SNHG12 0 genome.wustl.edu 37 1 28907388 28907388 + RNA SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 28907388 28907388 G C SNP SNHG12 ENST00000464612 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SNHG12 HGNC ENSG00000197989 38 0 0.00 42 11 20.75 - - - SOGA2 0 genome.wustl.edu 37 18 8813204 8813204 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 18 8813204 8813204 G C SNP SOGA2 ENST00000359865 human ensembl 69_37n +1 known missense c.2832 p.K944N 1.000 NULL pfam_DUF3166 - no_errors SOGA2 HGNC ENSG00000168502 37 0 0.00 21 5 19.23 - - - SOLH 0 genome.wustl.edu 37 16 599151 599151 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 599151 599151 C T SNP SOLH ENST00000219611 human ensembl 69_37n +1 known silent c.1608 p.F536 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors SOLH HGNC ENSG00000103326 49 0 0.00 39 15 27.78 - - - SORBS2 0 genome.wustl.edu 37 4 186544246 186544246 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 186544246 186544246 C G SNP SORBS2 ENST00000284776 human ensembl 69_37n -1 known silent c.2325 p.L775 0.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 29 0 0.00 28 6 17.14 - - - SOX2 0 genome.wustl.edu 37 3 181430271 181430271 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 181430271 181430271 C G SNP SOX2 ENST00000325404 human ensembl 69_37n +1 known silent c.123 p.V41 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX2 HGNC ENSG00000181449 39 0 0.00 44 11 20.00 - - - SOX6 0 genome.wustl.edu 37 11 16068182 16068182 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 16068182 16068182 G C SNP SOX6 ENST00000352083 human ensembl 69_37n -1 known missense c.1501 p.Q501E 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX6 HGNC ENSG00000110693 71 0 0.00 35 17 32.69 - - - SPAG1 0 genome.wustl.edu 37 8 101271477 101271477 + RNA SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 101271477 101271477 G T SNP SPAG1 ENST00000519409 human ensembl 69_37n +1 known rna NULL NULL 0.997 - - - no_errors SPAG1 HGNC ENSG00000104450 75 0 0.00 81 15 15.62 - - - SPDEF 0 genome.wustl.edu 37 6 34511944 34511944 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 34511944 34511944 C G SNP SPDEF ENST00000374037 human ensembl 69_37n -1 known missense c.289 p.D97H 0.996 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors SPDEF HGNC ENSG00000124664 50 0 0.00 47 10 17.54 - - - SPEN 0 genome.wustl.edu 37 1 16254693 16254693 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 16254693 16254693 G A SNP SPEN ENST00000375759 human ensembl 69_37n +1 known missense c.1958 p.R653Q 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 22 0 0.00 22 4 15.38 - - - SPEN 0 genome.wustl.edu 37 1 16259369 16259369 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 16259369 16259369 G A SNP SPEN ENST00000375759 human ensembl 69_37n +1 known missense c.6634 p.E2212K 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 25 0 0.00 39 12 23.53 - - - SPG11 0 genome.wustl.edu 37 15 44859755 44859755 + Nonsense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 44859755 44859755 G C SNP SPG11 ENST00000559511 human ensembl 69_37n -1 novel nonsense c.992 p.S331* 1.000 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region SPG11 HGNC ENSG00000104133 48 0 0.00 60 10 14.29 - - - SPG7 0 genome.wustl.edu 37 16 89614411 89614411 + Missense_Mutation SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 89614411 89614411 G T SNP SPG7 ENST00000268704 human ensembl 69_37n +1 known missense c.1553 p.G518V 1.000 tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,tigrfam_FtsH - no_errors SPG7 HGNC ENSG00000197912 30 0 0.00 23 16 41.03 - - - SPTBN2 0 genome.wustl.edu 37 11 66461725 66461725 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 66461725 66461725 G A SNP SPTBN2 ENST00000309996 human ensembl 69_37n -1 known missense c.4388 p.S1463L 0.856 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type - no_errors SPTBN2 HGNC ENSG00000173898 63 0 0.00 53 13 19.70 - - - SRBD1 0 genome.wustl.edu 37 2 45645601 45645601 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 45645601 45645601 C T SNP SRBD1 ENST00000263736 human ensembl 69_37n -1 known missense c.2236 p.E746K 1.000 superfamily_RuvA_2-like pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 56 0 0.00 53 6 10.17 - - - SRC 0 genome.wustl.edu 37 20 36032156 36032156 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 36032156 36032156 C T SNP SRC ENST00000477066 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors SRC HGNC ENSG00000197122 83 0 0.00 103 13 11.21 - - - SRRM1 0 genome.wustl.edu 37 1 24977977 24977977 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 24977977 24977977 C G SNP SRRM1 ENST00000447431 human ensembl 69_37n +1 known missense c.599 p.S200C 1.000 NULL pfam_PWI,superfamily_PWI,smart_PWI - no_errors SRRM1 HGNC ENSG00000133226 31 0 0.00 28 8 22.22 - - - SRRM1 0 genome.wustl.edu 37 1 24981345 24981345 + Splice_Site SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 24981345 24981345 G A SNP SRRM1 ENST00000447431 human ensembl 69_37n +1 known splice_site c.1041-1 e9-1 1.000 - - - no_errors SRRM1 HGNC ENSG00000133226 45 0 0.00 27 6 18.18 - - - SRRT 0 genome.wustl.edu 37 7 100479731 100479731 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 100479731 100479731 C G SNP SRRT ENST00000388793 human ensembl 69_37n +1 known missense c.456 p.F152L 1.000 pfam_DUF3546 pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 60 0 0.00 62 11 15.07 - - - SRSF6 0 genome.wustl.edu 37 20 42089630 42089630 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 42089630 42089630 G C SNP SRSF6 ENST00000244020 human ensembl 69_37n +1 known missense c.962 p.R321T 1.000 NULL pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF6 HGNC ENSG00000124193 35 0 0.00 33 8 19.51 - - - SSX2IP 0 genome.wustl.edu 37 1 85121255 85121255 + RNA SNP A A G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 85121255 85121255 A G SNP SSX2IP ENST00000459708 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SSX2IP HGNC ENSG00000117155 24 0 0.00 25 5 16.67 - - - STARD9 0 genome.wustl.edu 37 15 42973654 42973654 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 42973654 42973654 C G SNP STARD9 ENST00000290607 human ensembl 69_37n +1 known missense c.1909 p.Q637E 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 24 0 0.00 25 6 19.35 - - - STARD9 0 genome.wustl.edu 37 15 42980700 42980700 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 42980700 42980700 C T SNP STARD9 ENST00000290607 human ensembl 69_37n +1 known silent c.6924 p.F2308 0.003 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 37 0 0.00 29 4 12.12 - - - STAT6 0 genome.wustl.edu 37 12 57493638 57493638 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 57493638 57493638 G A SNP STAT6 ENST00000553533 human ensembl 69_37n -1 putative nonsense c.811 p.Q271* 0.844 pfam_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_SH2,superfamily_p53-like_TF_DNA-bd,pfscan_SH2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region STAT6 HGNC ENSG00000166888 42 0 0.00 57 8 12.31 - - - STAT6 0 genome.wustl.edu 37 12 57496109 57496109 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 57496109 57496109 G A SNP STAT6 ENST00000553533 human ensembl 69_37n -1 putative missense c.577 p.P193S 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_SH2,superfamily_p53-like_TF_DNA-bd,pfscan_SH2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region STAT6 HGNC ENSG00000166888 25 0 0.00 41 15 26.79 - - - STAT6 0 genome.wustl.edu 37 12 57498953 57498953 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 57498953 57498953 G A SNP STAT6 ENST00000300134 human ensembl 69_37n -1 known nonsense c.982 p.Q328* 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 48 0 0.00 45 13 22.41 - - - STAT6 0 genome.wustl.edu 37 12 57501470 57501470 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 57501470 57501470 G A SNP STAT6 ENST00000300134 human ensembl 69_37n -1 known missense c.173 p.S58L 0.974 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 18 0 0.00 31 10 24.39 - - - STIL 0 genome.wustl.edu 37 1 47746630 47746630 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 47746630 47746630 C T SNP STIL ENST00000436811 human ensembl 69_37n -1 novel missense c.100 p.E34K 0.119 NULL NULL - no_start_codon:pseudogene:no_stop_codon STIL HGNC ENSG00000123473 54 0 0.00 38 11 22.45 - - - STK38 0 genome.wustl.edu 37 6 36464500 36464500 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 36464500 36464500 G C SNP STK38 ENST00000229812 human ensembl 69_37n -1 known missense c.1255 p.L419V 1.000 pfam_Pkinase_C,smart_AGC-kinase_C pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,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 - no_errors STK38 HGNC ENSG00000112079 38 0 0.00 51 7 12.07 - - - STK39 0 genome.wustl.edu 37 2 168994617 168994617 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 168994617 168994617 G A SNP STK39 ENST00000355999 human ensembl 69_37n -1 known nonsense c.955 p.Q319* 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_Kinase_OSR1/WNK_CCT,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 - no_errors STK39 HGNC ENSG00000198648 89 0 0.00 73 18 19.78 - - - STK39 0 genome.wustl.edu 37 2 169020359 169020359 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 169020359 169020359 G C SNP STK39 ENST00000355999 human ensembl 69_37n -1 known silent c.462 p.V154 0.993 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_Kinase_OSR1/WNK_CCT,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 - no_errors STK39 HGNC ENSG00000198648 58 0 0.00 56 16 22.22 - - - STRN3 0 genome.wustl.edu 37 14 31364699 31364699 + Nonsense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 31364699 31364699 G C SNP STRN3 ENST00000357479 human ensembl 69_37n -1 known nonsense c.2312 p.S771* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN3 HGNC ENSG00000196792 50 0 0.00 20 11 35.48 - - - STUB1 0 genome.wustl.edu 37 16 731457 731457 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 731457 731457 G A SNP STUB1 ENST00000566408 human ensembl 69_37n +1 putative missense c.95 p.S32N 1.000 pfscan_TPR-contain_dom pfam_Ubox_domain,smart_Ubox_domain,pfscan_TPR-contain_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region STUB1 HGNC ENSG00000103266 28 0 0.00 34 8 19.05 - - - SUV420H2 0 genome.wustl.edu 37 19 55857665 55857665 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 55857665 55857665 G A SNP SUV420H2 ENST00000255613 human ensembl 69_37n +1 known missense c.655 p.E219K 0.772 smart_SET_dom,pfscan_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H2 HGNC ENSG00000133247 78 0 0.00 87 20 18.69 - - - SVEP1 0 genome.wustl.edu 37 9 113168453 113168453 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 113168453 113168453 C T SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known missense c.9427 p.E3143K 0.996 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 62 0 0.00 58 14 19.44 - - - SVEP1 0 genome.wustl.edu 37 9 113169051 113169051 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 113169051 113169051 G A SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known silent c.8829 p.L2943 0.983 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 45 0 0.00 31 9 22.50 - - - SVIL 0 genome.wustl.edu 37 10 29822248 29822248 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 29822248 29822248 C G SNP SVIL ENST00000355867 human ensembl 69_37n -1 known missense c.1048 p.D350H 0.426 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 67 0 0.00 58 11 15.71 - - - SYN3 0 genome.wustl.edu 37 22 33260985 33260985 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 22 33260985 33260985 G A SNP SYN3 ENST00000332840 human ensembl 69_37n -1 known nonsense c.628 p.Q210* 1.000 pfam_Synapsin_ATP-bd_dom pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 29 0 0.00 19 11 36.67 - - - SYNCRIP 0 genome.wustl.edu 37 6 86332351 86332351 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 86332351 86332351 C T SNP SYNCRIP ENST00000369622 human ensembl 69_37n -1 known missense c.857 p.R286K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 50 0 0.00 52 13 20.00 - - - SYNE1 0 genome.wustl.edu 37 6 152510425 152510425 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 152510425 152510425 C G SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.23263 p.E7755Q 0.996 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 68 0 0.00 44 12 21.43 - - - SYNE2 0 genome.wustl.edu 37 14 64604687 64604687 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 64604687 64604687 C G SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known silent c.14829 p.L4943 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 36 0 0.00 30 9 23.08 - - - SYT17 0 genome.wustl.edu 37 16 19194943 19194943 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 19194943 19194943 C T SNP SYT17 ENST00000355377 human ensembl 69_37n +1 known missense c.425 p.S142L 0.968 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT17 HGNC ENSG00000103528 45 0 0.00 47 12 20.34 - - - SYT2 0 genome.wustl.edu 37 1 202573742 202573742 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 202573742 202573742 G A SNP SYT2 ENST00000367267 human ensembl 69_37n -1 known silent c.186 p.P62 0.999 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting - no_errors SYT2 HGNC ENSG00000143858 22 0 0.00 25 10 28.57 - - - SZT2 0 genome.wustl.edu 37 1 43893678 43893678 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 43893678 43893678 C G SNP SZT2 ENST00000562955 human ensembl 69_37n +1 known missense c.3637 p.Q1213E 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 48 0 0.00 56 9 13.85 - - - SZT2 0 genome.wustl.edu 37 1 43896169 43896169 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 43896169 43896169 G C SNP SZT2 ENST00000562955 human ensembl 69_37n +1 known missense c.4312 p.D1438H 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 40 0 0.00 47 7 12.96 - - - TAF1 0 genome.wustl.edu 37 X 70749751 70749751 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 70749751 70749751 G A SNP TAF1 ENST00000461764 human ensembl 69_37n +1 known rna NULL NULL 0.712 - - - no_errors TAF1 HGNC ENSG00000147133 10 0 0.00 11 4 26.67 - - - TAF1L 0 genome.wustl.edu 37 9 32631258 32631258 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 32631258 32631258 G A SNP TAF1L ENST00000242310 human ensembl 69_37n -1 known silent c.4320 p.I1440 1.000 pirsf_TAF1_animal,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 77 0 0.00 68 9 11.69 - - - TAGLN2 0 genome.wustl.edu 37 1 159888757 159888757 + RNA SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 159888757 159888757 G C SNP TAGLN2 ENST00000478033 human ensembl 69_37n -1 known rna NULL NULL 0.098 - - - no_errors TAGLN2 HGNC ENSG00000158710 25 0 0.00 23 14 37.84 - - - TANC2 0 genome.wustl.edu 37 17 61497523 61497523 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 61497523 61497523 G A SNP TANC2 ENST00000424789 human ensembl 69_37n +1 known missense c.4180 p.E1394K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 36 0 0.00 40 8 16.67 - - - TAS2R64P 0 genome.wustl.edu 37 12 11230005 11230005 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 11230005 11230005 C G SNP TAS2R64P ENST00000534866 human ensembl 69_37n -1 known rna NULL NULL 0.045 - - - no_errors TAS2R64P HGNC ENSG00000256274 19 0 0.00 17 5 22.73 - - - TAS2R8 0 genome.wustl.edu 37 12 10959018 10959018 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 10959018 10959018 G C SNP TAS2R8 ENST00000240615 human ensembl 69_37n -1 known missense c.562 p.L188V 0.000 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors TAS2R8 HGNC ENSG00000121314 19 0 0.00 18 6 25.00 - - - TBC1D8B 0 genome.wustl.edu 37 X 106082596 106082596 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 106082596 106082596 C T SNP TBC1D8B ENST00000357242 human ensembl 69_37n +1 known missense c.1262 p.T421I 0.109 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 43 0 0.00 47 7 12.96 - - - TECPR2 0 genome.wustl.edu 37 14 102881013 102881013 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 102881013 102881013 C T SNP TECPR2 ENST00000359520 human ensembl 69_37n +1 known missense c.521 p.S174F 0.999 superfamily_WD40_repeat_dom pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 48 0 0.00 38 5 11.63 - - - TECPR2 0 genome.wustl.edu 37 14 102898394 102898394 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 102898394 102898394 C T SNP TECPR2 ENST00000359520 human ensembl 69_37n +1 known missense c.1346 p.S449L 0.899 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 28 0 0.00 32 11 25.58 - - - TFAP2A 0 genome.wustl.edu 37 6 10419816 10419816 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 10419816 10419816 G A SNP TFAP2A ENST00000473652 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors TFAP2A HGNC ENSG00000137203 21 0 0.00 37 10 21.28 - - - TFPI 0 genome.wustl.edu 37 2 188361632 188361632 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 188361632 188361632 C G SNP TFPI ENST00000233156 human ensembl 69_37n -1 known missense c.295 p.E99Q 1.000 pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI HGNC ENSG00000003436 41 0 0.00 29 7 19.44 - - - TGFBI 0 genome.wustl.edu 37 5 135383098 135383098 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 135383098 135383098 G C SNP TGFBI ENST00000305126 human ensembl 69_37n +1 known missense c.760 p.E254Q 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 54 0 0.00 46 10 17.86 - - - THAP4 0 genome.wustl.edu 37 2 242541339 242541339 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 242541339 242541339 G C SNP THAP4 ENST00000407315 human ensembl 69_37n -1 known missense c.1586 p.S529C 1.000 pfam_DUF1794,superfamily_Calycin-like pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC ENSG00000176946 35 0 0.00 36 4 10.00 - - - TIMM8A 0 genome.wustl.edu 37 X 100603691 100603691 + RNA SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 100603691 100603691 G T SNP TIMM8A ENST00000480575 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors TIMM8A HGNC ENSG00000126953 59 0 0.00 57 15 20.83 - - - TLE4 0 genome.wustl.edu 37 9 82322052 82322052 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 82322052 82322052 G A SNP TLE4 ENST00000417836 human ensembl 69_37n +1 novel missense c.149 p.G50E 0.009 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TLE4 HGNC ENSG00000106829 99 0 0.00 81 12 12.90 - - - TM4SF19-AS1 0 genome.wustl.edu 37 3 196050700 196050700 + Splice_Site SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 196050700 196050700 G A SNP TM4SF19-AS1 ENST00000452051 human ensembl 69_37n +1 known splice_site c.NULL NULL 1.000 - - - no_errors TM4SF19-AS1 HGNC ENSG00000235897 27 0 0.00 18 3 14.29 - - - TMCC3 0 genome.wustl.edu 37 12 94975969 94975969 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 94975969 94975969 C G SNP TMCC3 ENST00000261226 human ensembl 69_37n -1 known missense c.424 p.E142Q 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 42 0 0.00 36 6 14.29 - - - TMEM242 0 genome.wustl.edu 37 6 157744494 157744494 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 157744494 157744494 G A SNP TMEM242 ENST00000400788 human ensembl 69_37n -1 known missense c.38 p.S13F 0.001 pfam_DUF1358 pfam_DUF1358 - no_errors TMEM242 HGNC ENSG00000215712 76 0 0.00 72 10 12.20 - - - TMEM246 0 genome.wustl.edu 37 9 104238680 104238680 + Missense_Mutation SNP A A G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 104238680 104238680 A G SNP TMEM246 ENST00000374847 human ensembl 69_37n -1 known missense c.695 p.F232S 1.000 NULL NULL - no_errors TMEM246 HGNC ENSG00000165152 35 0 0.00 43 5 10.42 - - - TMEM62 0 genome.wustl.edu 37 15 43473405 43473405 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 15 43473405 43473405 G C SNP TMEM62 ENST00000260403 human ensembl 69_37n +1 known missense c.1513 p.D505H 1.000 NULL superfamily_Cadherin-like - no_errors TMEM62 HGNC ENSG00000137842 113 0 0.00 86 13 13.13 - - - TMIGD2 0 genome.wustl.edu 37 19 4292732 4292732 + Nonsense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 4292732 4292732 G C SNP TMIGD2 ENST00000301272 human ensembl 69_37n -1 known nonsense c.713 p.S238* 0.006 NULL smart_Ig_sub,pfscan_Ig-like - no_errors TMIGD2 HGNC ENSG00000167664 50 0 0.00 41 10 19.61 - - - TMPRSS11E 0 genome.wustl.edu 37 4 69343230 69343230 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 69343230 69343230 C G SNP TMPRSS11E ENST00000305363 human ensembl 69_37n +1 known missense c.851 p.S284C 0.793 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_SEA,pfscan_Peptidase_S1_S6 - no_errors TMPRSS11E HGNC ENSG00000087128 44 0 0.00 61 7 10.29 - - - TMPRSS7 0 genome.wustl.edu 37 3 111785247 111785247 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 111785247 111785247 C T SNP TMPRSS7 ENST00000419127 human ensembl 69_37n +1 known nonsense c.1186 p.Q396* 0.000 superfamily_LDrepeatLR_classA_rpt pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS7 HGNC ENSG00000176040 30 0 0.00 21 10 32.26 - - - TNFRSF1A 0 genome.wustl.edu 37 12 6439172 6439172 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 6439172 6439172 G C SNP TNFRSF1A ENST00000162749 human ensembl 69_37n -1 known missense c.829 p.P277A 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A - no_errors TNFRSF1A HGNC ENSG00000067182 31 0 0.00 33 4 10.81 - - - TNFRSF1A 0 genome.wustl.edu 37 12 6443376 6443376 + Nonsense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 6443376 6443376 G C SNP TNFRSF1A ENST00000162749 human ensembl 69_37n -1 known nonsense c.74 p.S25* 0.000 prints_TNFR_1A pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A - no_errors TNFRSF1A HGNC ENSG00000067182 53 0 0.00 44 15 25.42 - - - TNR 0 genome.wustl.edu 37 1 175372702 175372702 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 175372702 175372702 C G SNP TNR ENST00000263525 human ensembl 69_37n -1 known missense c.550 p.E184Q 0.998 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 49 0 0.00 51 7 12.07 - - - TNRC6C 0 genome.wustl.edu 37 17 76047316 76047316 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 76047316 76047316 G C SNP TNRC6C ENST00000335749 human ensembl 69_37n +1 known missense c.2173 p.D725H 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 41 0 0.00 29 13 30.95 - - - TNS3 0 genome.wustl.edu 37 7 47408074 47408074 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 47408074 47408074 G A SNP TNS3 ENST00000311160 human ensembl 69_37n -1 known silent c.2169 p.L723 0.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 65 0 0.00 99 11 10.00 - - - TNXB 0 genome.wustl.edu 37 6 32039828 32039828 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 32039828 32039828 G A SNP TNXB ENST00000375247 human ensembl 69_37n -1 known silent c.4929 p.F1643 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 43 0 0.00 41 9 18.00 - - - TPM3 0 genome.wustl.edu 37 1 154155529 154155529 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 154155529 154155529 C T SNP TPM3 ENST00000330188 human ensembl 69_37n -1 known missense c.67 p.D23N 0.994 pfam_Tropomyosin pfam_Tropomyosin,superfamily_HR1_rho-bd,prints_Tropomyosin - no_errors TPM3 HGNC ENSG00000143549 44 0 0.00 34 19 35.85 - - - TPR 0 genome.wustl.edu 37 1 186325574 186325574 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 186325574 186325574 C G SNP TPR ENST00000367478 human ensembl 69_37n -1 known missense c.1732 p.E578Q 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 29 0 0.00 34 11 24.44 - - - TRAFD1 0 genome.wustl.edu 37 12 112572675 112572675 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 112572675 112572675 C G SNP TRAFD1 ENST00000257604 human ensembl 69_37n +1 known missense c.181 p.Q61E 1.000 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC ENSG00000135148 48 0 0.00 52 14 21.21 - - - TRAK2 0 genome.wustl.edu 37 2 202265750 202265750 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 202265750 202265750 G A SNP TRAK2 ENST00000332624 human ensembl 69_37n -1 known silent c.354 p.L118 1.000 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 44 0 0.00 42 6 12.50 - - - TRAPPC2P1 0 genome.wustl.edu 37 19 57876444 57876444 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 57876444 57876444 G A SNP TRAPPC2P1 ENST00000543226 human ensembl 69_37n +1 known missense c.243 p.M81I 0.996 pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC2P1 HGNC ENSG00000256060 82 0 0.00 91 17 15.74 - - - TRAPPC9 0 genome.wustl.edu 37 8 140743268 140743268 + RNA SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 140743268 140743268 C G SNP TRAPPC9 ENST00000521667 human ensembl 69_37n -1 known rna NULL NULL 0.021 - - - no_errors TRAPPC9 HGNC ENSG00000167632 21 0 0.00 33 9 21.43 - - - TRAV24 0 genome.wustl.edu 37 14 22573956 22573956 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 22573956 22573956 G C SNP TRAV24 ENST00000390453 human ensembl 69_37n +1 known missense c.176 p.R59T 0.032 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRAV24 HGNC ENSG00000211805 73 0 0.00 39 7 15.22 - - - TRBV29-1 0 genome.wustl.edu 37 7 142448444 142448444 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 142448444 142448444 C G SNP TRBV29-1 ENST00000422143 human ensembl 69_37n +1 known missense c.38 p.S13C 0.019 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV29-1 HGNC ENSG00000232869 56 0 0.00 54 18 25.00 - - - TRIM24 0 genome.wustl.edu 37 7 138269544 138269544 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 138269544 138269544 C G SNP TRIM24 ENST00000343526 human ensembl 69_37n +1 known missense c.3001 p.L1001V 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 45 0 0.00 25 4 13.79 - - - TRIM50 0 genome.wustl.edu 37 7 72738405 72738405 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 72738405 72738405 G A SNP TRIM50 ENST00000333149 human ensembl 69_37n -1 known silent c.381 p.T127 0.984 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM50 HGNC ENSG00000146755 111 0 0.00 108 27 20.00 - - - TRIOBP 0 genome.wustl.edu 37 22 38122318 38122318 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 22 38122318 38122318 C T SNP TRIOBP ENST00000406386 human ensembl 69_37n +1 known missense c.3755 p.S1252F 0.938 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 61 0 0.00 49 7 12.50 - - - TRMT112 0 genome.wustl.edu 37 11 64084384 64084384 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 64084384 64084384 G A SNP TRMT112 ENST00000544844 human ensembl 69_37n -1 known silent c.327 p.I109 1.000 pfam_UPF0434/Trm112 pfam_UPF0434/Trm112 - no_errors TRMT112 HGNC ENSG00000173113 36 0 0.00 44 5 10.20 - - - TRMT61A 0 genome.wustl.edu 37 14 103999138 103999138 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 103999138 103999138 C T SNP TRMT61A ENST00000389749 human ensembl 69_37n +1 known missense c.551 p.S184L 0.997 pfam_tRNA_MeTrfase_GCD14,pirsf_tRNA_MeTrfase_GCD14 pfam_tRNA_MeTrfase_GCD14,pirsf_tRNA_MeTrfase_GCD14 - no_errors TRMT61A HGNC ENSG00000166166 58 0 0.00 48 17 26.15 - - - TRMU 0 genome.wustl.edu 37 22 46742358 46742358 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 22 46742358 46742358 C T SNP TRMU ENST00000290846 human ensembl 69_37n +1 known missense c.395 p.S132F 0.980 pfam_tRNA-specific_2-thiouridylase,tigrfam_tRNA-specific_2-thiouridylase pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase - no_errors TRMU HGNC ENSG00000100416 28 0 0.00 19 6 24.00 - - - TRMU 0 genome.wustl.edu 37 22 46746201 46746201 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 22 46746201 46746201 C T SNP TRMU ENST00000290846 human ensembl 69_37n +1 known silent c.492 p.L164 0.944 pfam_tRNA-specific_2-thiouridylase,tigrfam_tRNA-specific_2-thiouridylase pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase - no_errors TRMU HGNC ENSG00000100416 78 0 0.00 71 13 15.48 - - - TRPM2 0 genome.wustl.edu 37 21 45825917 45825917 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 21 45825917 45825917 G C SNP TRPM2 ENST00000300482 human ensembl 69_37n +1 known silent c.2787 p.R929 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 31 0 0.00 43 13 23.21 - - - TSC22D1 0 genome.wustl.edu 37 13 45010711 45010711 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 45010711 45010711 C T SNP TSC22D1 ENST00000261489 human ensembl 69_37n -1 known silent c.54 p.L18 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 24 0 0.00 26 4 13.33 - - - TSC22D1 0 genome.wustl.edu 37 13 45010762 45010762 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 45010762 45010762 C T SNP TSC22D1 ENST00000261489 human ensembl 69_37n -1 known missense c.3 p.M1I 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 22 0 0.00 28 6 17.65 - - - TSNAXIP1 0 genome.wustl.edu 37 16 67865146 67865146 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 67865146 67865146 G A SNP TSNAXIP1 ENST00000565558 human ensembl 69_37n +1 known missense c.295 p.D99N 0.950 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TSNAXIP1 HGNC ENSG00000102904 34 0 0.00 31 5 13.89 - - - TSPAN16 0 genome.wustl.edu 37 19 11422853 11422853 + Missense_Mutation SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 11422853 11422853 G T SNP TSPAN16 ENST00000316737 human ensembl 69_37n +1 known missense c.642 p.Q214H 0.985 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN16 HGNC ENSG00000130167 70 0 0.00 64 10 13.51 - - - TTC23L 0 genome.wustl.edu 37 5 34864560 34864560 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 34864560 34864560 C A SNP TTC23L ENST00000505624 human ensembl 69_37n +1 known missense c.555 p.F185L 0.998 NULL NULL - no_errors TTC23L HGNC ENSG00000205838 63 0 0.00 54 6 10.00 - - - TTC9 0 genome.wustl.edu 37 14 71137836 71137836 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 14 71137836 71137836 C G SNP TTC9 ENST00000256367 human ensembl 69_37n +1 known silent c.633 p.L211 1.000 NULL pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC9 HGNC ENSG00000133985 31 0 0.00 44 15 25.42 - - - TTLL3 0 genome.wustl.edu 37 3 9854937 9854937 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 9854937 9854937 G A SNP TTLL3 ENST00000426895 human ensembl 69_37n +1 known missense c.652 p.E218K 0.984 NULL pfam_Tub_tyr_ligase - no_errors TTLL3 HGNC ENSG00000214021 57 0 0.00 53 11 17.19 - - - TTLL6 0 genome.wustl.edu 37 17 46863571 46863571 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 46863571 46863571 C A SNP TTLL6 ENST00000393382 human ensembl 69_37n -1 known missense c.1716 p.Q572H 0.001 NULL pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC ENSG00000170703 156 0 0.00 169 26 13.33 - - - TTN 0 genome.wustl.edu 37 2 179560075 179560075 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 179560075 179560075 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.27538 p.V9180I 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 68 0 0.00 67 9 11.84 - - - TTN 0 genome.wustl.edu 37 2 179605520 179605520 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 179605520 179605520 G A SNP TTN ENST00000342175 human ensembl 69_37n -1 known missense c.11927 p.S3976F 0.009 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 20 0 0.00 25 8 24.24 - - - TTN 0 genome.wustl.edu 37 2 179612117 179612117 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 179612117 179612117 C T SNP TTN ENST00000360870 human ensembl 69_37n -1 known missense c.15010 p.D5004N 0.964 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 27 0 0.00 34 10 22.73 - - - TTN 0 genome.wustl.edu 37 2 179612529 179612529 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 179612529 179612529 C G SNP TTN ENST00000360870 human ensembl 69_37n -1 known missense c.14598 p.Q4866H 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 32 0 0.00 35 9 20.45 - - - TTYH2 0 genome.wustl.edu 37 17 72227061 72227061 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 72227061 72227061 G A SNP TTYH2 ENST00000269346 human ensembl 69_37n +1 known missense c.337 p.E113K 1.000 pfam_Tweety pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 43 0 0.00 26 13 33.33 - - - TXNRD1 0 genome.wustl.edu 37 12 104720128 104720128 + Missense_Mutation SNP A A G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 104720128 104720128 A G SNP TXNRD1 ENST00000429002 human ensembl 69_37n +1 known missense c.1312 p.M438V 0.287 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 78 0 0.00 69 9 11.54 - - - UBBP4 0 genome.wustl.edu 37 17 21731553 21731553 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 21731553 21731553 G A SNP UBBP4 ENST00000578713 human ensembl 69_37n +1 putative missense c.628 p.D210N 1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBBP4 HGNC ENSG00000263563 45 0 0.00 38 15 28.30 - - - UBR2 0 genome.wustl.edu 37 6 42626034 42626034 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 42626034 42626034 G C SNP UBR2 ENST00000372899 human ensembl 69_37n +1 known missense c.3039 p.E1013D 0.419 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 35 0 0.00 32 4 11.11 - - - UBR4 0 genome.wustl.edu 37 1 19454188 19454188 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 19454188 19454188 G C SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.9157 p.L3053V 0.923 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 37 0 0.00 29 5 14.71 - - - UCHL3 0 genome.wustl.edu 37 13 76141388 76141388 + Missense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 76141388 76141388 C A SNP UCHL3 ENST00000377595 human ensembl 69_37n +1 known missense c.366 p.F122L 1.000 pfam_Peptidase_C12 pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors UCHL3 HGNC ENSG00000118939 71 0 0.00 42 14 25.00 - - - UGT3A2 0 genome.wustl.edu 37 5 36049116 36049116 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 36049116 36049116 G A SNP UGT3A2 ENST00000282507 human ensembl 69_37n -1 known missense c.718 p.L240F 0.529 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 64 0 0.00 80 28 25.93 - - - UNC80 0 genome.wustl.edu 37 2 210798713 210798713 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 210798713 210798713 G A SNP UNC80 ENST00000439458 human ensembl 69_37n +1 known silent c.5964 p.V1988 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 36 0 0.00 33 11 25.00 - - - UQCR10 0 genome.wustl.edu 37 22 30163496 30163496 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 22 30163496 30163496 G A SNP UQCR10 ENST00000330029 human ensembl 69_37n +1 known missense c.109 p.D37N 1.000 pfam_Ubiquinol_cyt_c_Rdtase_QCR9,superfamily_Ubiquinol_cyt_c_Rdtase_QCR9 pfam_Ubiquinol_cyt_c_Rdtase_QCR9,superfamily_Ubiquinol_cyt_c_Rdtase_QCR9 - no_errors UQCR10 HGNC ENSG00000184076 26 0 0.00 22 10 31.25 - - - USH2A 0 genome.wustl.edu 37 1 215963505 215963505 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 215963505 215963505 C T SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.10078 p.E3360K 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 41 0 0.00 26 30 53.57 - - - USP29 0 genome.wustl.edu 37 19 57641328 57641328 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 57641328 57641328 G C SNP USP29 ENST00000254181 human ensembl 69_37n +1 known missense c.1285 p.E429Q 0.993 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP29 HGNC ENSG00000131864 37 0 0.00 32 5 13.51 - - - USP4 0 genome.wustl.edu 37 3 49348123 49348123 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 49348123 49348123 G C SNP USP4 ENST00000265560 human ensembl 69_37n -1 known missense c.884 p.S295C 0.997 NULL pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP4 HGNC ENSG00000114316 37 0 0.00 50 8 13.79 - - - USP45 0 genome.wustl.edu 37 6 99887703 99887703 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 99887703 99887703 C T SNP USP45 ENST00000327681 human ensembl 69_37n -1 known missense c.2102 p.R701K 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP45 HGNC ENSG00000123552 48 0 0.00 21 15 41.67 - - - USP47 0 genome.wustl.edu 37 11 11895388 11895388 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 11895388 11895388 G C SNP USP47 ENST00000399455 human ensembl 69_37n +1 known missense c.81 p.M27I 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP47 HGNC ENSG00000170242 47 0 0.00 34 13 27.66 - - - USP6 0 genome.wustl.edu 37 17 5039177 5039177 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 17 5039177 5039177 C G SNP USP6 ENST00000250066 human ensembl 69_37n +1 known missense c.618 p.F206L 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19 - no_errors USP6 HGNC ENSG00000129204 106 0 0.00 82 13 13.68 - - - UTRN 0 genome.wustl.edu 37 6 144783990 144783990 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 144783990 144783990 C T SNP UTRN ENST00000367545 human ensembl 69_37n +1 known silent c.3054 p.L1018 0.945 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 51 0 0.00 39 10 20.41 - - - UXS1 0 genome.wustl.edu 37 2 106713195 106713195 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 106713195 106713195 C T SNP UXS1 ENST00000283148 human ensembl 69_37n -1 known silent c.1125 p.L375 1.000 NULL pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase - no_errors UXS1 HGNC ENSG00000115652 51 0 0.00 40 10 20.00 - - - VCPIP1 0 genome.wustl.edu 37 8 67563703 67563703 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 67563703 67563703 C T SNP VCPIP1 ENST00000310421 human ensembl 69_37n -1 known silent c.2787 p.K929 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 69 0 0.00 52 8 13.33 - - - VCX 0 genome.wustl.edu 37 X 7811638 7811638 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 7811638 7811638 G A SNP VCX ENST00000381059 human ensembl 69_37n +1 known missense c.202 p.E68K 0.871 NULL NULL - no_errors VCX HGNC ENSG00000182583 34 0 0.00 45 8 15.09 - - - VEZT 0 genome.wustl.edu 37 12 95688097 95688097 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 12 95688097 95688097 G A SNP VEZT ENST00000436874 human ensembl 69_37n +1 known silent c.1572 p.L524 0.000 NULL NULL - no_errors VEZT HGNC ENSG00000028203 39 0 0.00 49 11 18.33 - - - VNN2 0 genome.wustl.edu 37 6 133072459 133072459 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 133072459 133072459 G A SNP VNN2 ENST00000326499 human ensembl 69_37n -1 known missense c.1025 p.S342F 0.000 pirsf_Biotinidase_euk pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC ENSG00000112303 39 0 0.00 31 4 11.43 - - - VPS13A 0 genome.wustl.edu 37 9 79930212 79930212 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 79930212 79930212 G A SNP VPS13A ENST00000360280 human ensembl 69_37n +1 known missense c.4456 p.D1486N 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 43 0 0.00 42 9 17.65 - - - VPS13A 0 genome.wustl.edu 37 9 79936536 79936536 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 79936536 79936536 C T SNP VPS13A ENST00000360280 human ensembl 69_37n +1 known missense c.5704 p.P1902S 0.021 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 54 0 0.00 27 9 25.00 - - - VPS13D 0 genome.wustl.edu 37 1 12294403 12294403 + Nonsense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 12294403 12294403 C G SNP VPS13D ENST00000358136 human ensembl 69_37n +1 known nonsense c.80 p.S27* 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 51 0 0.00 50 12 19.35 - - - VPS13D 0 genome.wustl.edu 37 1 12408918 12408918 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 12408918 12408918 G A SNP VPS13D ENST00000358136 human ensembl 69_37n +1 known silent c.9108 p.V3036 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 42 0 0.00 43 5 10.42 - - - VPS51 0 genome.wustl.edu 37 11 64877359 64877359 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 64877359 64877359 G A SNP VPS51 ENST00000526856 human ensembl 69_37n +1 putative missense c.335 p.S112N 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VPS51 HGNC ENSG00000149823 60 0 0.00 62 14 18.42 - - - VWA2 0 genome.wustl.edu 37 10 116014797 116014797 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 116014797 116014797 G A SNP VWA2 ENST00000392982 human ensembl 69_37n +1 known missense c.251 p.S84N 0.031 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 70 0 0.00 100 15 13.04 - - - VWA3B 0 genome.wustl.edu 37 2 98737772 98737772 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 98737772 98737772 G C SNP VWA3B ENST00000477737 human ensembl 69_37n +1 known missense c.553 p.E185Q 0.723 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 38 0 0.00 52 10 16.13 - - - VWA5A 0 genome.wustl.edu 37 11 124007909 124007909 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 11 124007909 124007909 C T SNP VWA5A ENST00000392748 human ensembl 69_37n +1 known missense c.1813 p.H605Y 0.000 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 37 0 0.00 31 9 22.50 - - - WAC 0 genome.wustl.edu 37 10 28905246 28905246 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 10 28905246 28905246 C T SNP WAC ENST00000354911 human ensembl 69_37n +1 known silent c.1701 p.L567 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WAC HGNC ENSG00000095787 37 0 0.00 45 12 21.05 - - - WDFY2 0 genome.wustl.edu 37 13 52158851 52158851 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 13 52158851 52158851 C G SNP WDFY2 ENST00000298125 human ensembl 69_37n +1 known missense c.28 p.L10V 0.998 NULL pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY2 HGNC ENSG00000139668 51 0 0.00 36 19 34.55 - - - WDR27 0 genome.wustl.edu 37 6 170052035 170052035 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 170052035 170052035 G A SNP WDR27 ENST00000441385 human ensembl 69_37n -1 putative nonsense c.373 p.Q125* 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region WDR27 HGNC ENSG00000184465 41 0 0.00 37 12 24.49 - - - WDR3 0 genome.wustl.edu 37 1 118492688 118492688 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 118492688 118492688 C G SNP WDR3 ENST00000349139 human ensembl 69_37n +1 known missense c.1681 p.Q561E 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 115 0 0.00 140 17 10.76 - - - WDR45 0 genome.wustl.edu 37 X 48934351 48934351 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 48934351 48934351 C T SNP WDR45 ENST00000367375 human ensembl 69_37n -1 novel missense c.163 p.V55I 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat superfamily_WD40_repeat_dom,smart_WD40_repeat - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region WDR45 HGNC ENSG00000196998 52 0 0.00 29 6 17.14 - - - WDR49 0 genome.wustl.edu 37 3 167293918 167293918 + Nonsense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 3 167293918 167293918 G A SNP WDR49 ENST00000308378 human ensembl 69_37n -1 known nonsense c.274 p.Q92* 0.998 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 22 0 0.00 13 3 18.75 - - - WDR60 0 genome.wustl.edu 37 7 158719112 158719112 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 158719112 158719112 C T SNP WDR60 ENST00000444851 human ensembl 69_37n +1 known missense c.1549 p.P517S 1.000 NULL NULL - no_start_codon WDR60 HGNC ENSG00000126870 58 0 0.00 41 7 14.58 - - - WDR69 0 genome.wustl.edu 37 2 228767739 228767739 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 228767739 228767739 C T SNP WDR69 ENST00000309931 human ensembl 69_37n +1 known nonsense c.562 p.Q188* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR69 HGNC ENSG00000123977 48 0 0.00 63 14 18.18 - - - WNK3 0 genome.wustl.edu 37 X 54275292 54275292 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 54275292 54275292 G A SNP WNK3 ENST00000354646 human ensembl 69_37n -1 known silent c.3489 p.I1163 0.758 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 63 0 0.00 55 9 14.06 - - - XAB2 0 genome.wustl.edu 37 19 7692692 7692692 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 7692692 7692692 C T SNP XAB2 ENST00000358368 human ensembl 69_37n -1 known silent c.246 p.V82 1.000 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 41 0 0.00 32 14 29.79 - - - XIST 0 genome.wustl.edu 37 X 73068515 73068515 + RNA SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 73068515 73068515 G C SNP XIST ENST00000429829 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 27 0 0.00 31 7 18.42 - - - XPO5 0 genome.wustl.edu 37 6 43494463 43494463 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 43494463 43494463 C T SNP XPO5 ENST00000486936 human ensembl 69_37n -1 known missense c.130 p.G44R 0.999 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region XPO5 HGNC ENSG00000124571 42 0 0.00 34 13 27.66 - - - ZAP70 0 genome.wustl.edu 37 2 98340802 98340802 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 2 98340802 98340802 G A SNP ZAP70 ENST00000264972 human ensembl 69_37n +1 known silent c.303 p.P101 0.529 pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors ZAP70 HGNC ENSG00000115085 18 0 0.00 19 4 17.39 - - - ZBTB22 0 genome.wustl.edu 37 6 33283446 33283446 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 33283446 33283446 G C SNP ZBTB22 ENST00000418724 human ensembl 69_37n -1 known silent c.1248 p.L416 0.992 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 ZBTB22 HGNC ENSG00000236104 60 0 0.00 61 21 25.61 - - - ZBTB22 0 genome.wustl.edu 37 6 33284490 33284490 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 33284490 33284490 G A SNP ZBTB22 ENST00000418724 human ensembl 69_37n -1 known silent c.204 p.F68 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ENSG00000236104 49 0 0.00 37 6 13.95 - - - ZBTB46 0 genome.wustl.edu 37 20 62421190 62421190 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 62421190 62421190 G A SNP ZBTB46 ENST00000245663 human ensembl 69_37n -1 known silent c.921 p.F307 0.999 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 40 0 0.00 41 11 20.75 - - - ZBTB6 0 genome.wustl.edu 37 9 125673814 125673814 + Nonsense_Mutation SNP C C A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 9 125673814 125673814 C A SNP ZBTB6 ENST00000373659 human ensembl 69_37n -1 known nonsense c.538 p.E180* 0.999 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 ZBTB6 HGNC ENSG00000186130 29 0 0.00 28 8 22.22 - - - ZFHX4 0 genome.wustl.edu 37 8 77619987 77619987 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 8 77619987 77619987 G A SNP ZFHX4 ENST00000521891 human ensembl 69_37n +1 known missense c.2797 p.E933K 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 27 0 0.00 34 5 12.82 - - - ZFP112 0 genome.wustl.edu 37 19 44832181 44832181 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 44832181 44832181 G A SNP ZFP112 ENST00000536500 human ensembl 69_37n -1 known missense c.2198 p.S733F 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP112 HGNC ENSG00000062370 74 0 0.00 73 15 17.05 - - - ZFP36 0 genome.wustl.edu 37 19 39898893 39898893 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 39898893 39898893 C T SNP ZFP36 ENST00000248673 human ensembl 69_37n +1 known missense c.535 p.P179S 0.902 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ENSG00000128016 69 0 0.00 95 11 10.38 - - - ZFP62 0 genome.wustl.edu 37 5 180276354 180276354 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 180276354 180276354 C G SNP ZFP62 ENST00000512132 human ensembl 69_37n -1 known missense c.2042 p.R681T 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP62 HGNC ENSG00000196670 39 0 0.00 61 8 11.59 - - - ZFP64 0 genome.wustl.edu 37 20 50713636 50713636 + Nonstop_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 50713636 50713636 C G SNP ZFP64 ENST00000395979 human ensembl 69_37n -1 putative nonstop c.395 p.*132S 0.003 NULL NULL - no_errors ZFP64 HGNC ENSG00000020256 74 0 0.00 92 12 11.43 - - - ZKSCAN4 0 genome.wustl.edu 37 6 28219392 28219392 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 28219392 28219392 C G SNP ZKSCAN4 ENST00000377294 human ensembl 69_37n -1 known missense c.367 p.E123Q 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN4 HGNC ENSG00000187626 34 0 0.00 52 6 10.34 - - - ZKSCAN5 0 genome.wustl.edu 37 7 99103904 99103904 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 99103904 99103904 G A SNP ZKSCAN5 ENST00000326775 human ensembl 69_37n +1 known silent c.237 p.L79 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 40 0 0.00 53 6 10.17 - - - ZMYM4 0 genome.wustl.edu 37 1 35863124 35863124 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 35863124 35863124 G A SNP ZMYM4 ENST00000457946 human ensembl 69_37n +1 known missense c.2152 p.E718K 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZMYM4 HGNC ENSG00000146463 29 0 0.00 18 4 18.18 - - - ZNF12 0 genome.wustl.edu 37 7 6731349 6731349 + Silent SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 7 6731349 6731349 G C SNP ZNF12 ENST00000405858 human ensembl 69_37n -1 known silent c.1224 p.L408 0.034 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 ZNF12 HGNC ENSG00000164631 21 0 0.00 26 8 23.53 - - - ZNF133 0 genome.wustl.edu 37 20 18297346 18297346 + Silent SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 20 18297346 18297346 C G SNP ZNF133 ENST00000396026 human ensembl 69_37n +1 known silent c.1860 p.L620 0.099 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 ZNF133 HGNC ENSG00000125846 27 0 0.00 31 11 26.19 - - - ZNF14 0 genome.wustl.edu 37 19 19822265 19822265 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 19822265 19822265 G A SNP ZNF14 ENST00000344099 human ensembl 69_37n -1 known missense c.1825 p.H609Y 1.000 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 ZNF14 HGNC ENSG00000105708 44 0 0.00 34 8 19.05 - - - ZNF157 0 genome.wustl.edu 37 X 47272097 47272097 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf X 47272097 47272097 C G SNP ZNF157 ENST00000377073 human ensembl 69_37n +1 known missense c.625 p.Q209E 0.934 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 ZNF157 HGNC ENSG00000147117 41 0 0.00 36 4 10.00 - - - ZNF17 0 genome.wustl.edu 37 19 57931119 57931119 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 57931119 57931119 G C SNP ZNF17 ENST00000307658 human ensembl 69_37n +1 known missense c.259 p.E87Q 0.132 smart_Znf_C2H2-like,pfscan_Krueppel-associated_box 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 ZNF17 HGNC ENSG00000186272 46 0 0.00 56 17 23.29 - - - ZNF177 0 genome.wustl.edu 37 19 9491524 9491524 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 9491524 9491524 G C SNP ZNF177 ENST00000434737 human ensembl 69_37n +1 known missense c.517 p.E173Q 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF177 HGNC ENSG00000188629 41 0 0.00 45 5 10.00 - - - ZNF192P1 0 genome.wustl.edu 37 6 28134543 28134543 + RNA SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 28134543 28134543 G A SNP ZNF192P1 ENST00000440790 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors ZNF192P1 HGNC ENSG00000226314 33 0 0.00 33 8 19.51 - - - ZNF226 0 genome.wustl.edu 37 19 44680727 44680727 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 44680727 44680727 C T SNP ZNF226 ENST00000337433 human ensembl 69_37n +1 known nonsense c.1312 p.Q438* 1.000 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 ZNF226 HGNC ENSG00000167380 33 0 0.00 22 11 33.33 - - - ZNF229 0 genome.wustl.edu 37 19 44934557 44934557 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 44934557 44934557 G A SNP ZNF229 ENST00000588931 human ensembl 69_37n -1 known silent c.399 p.F133 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF229 HGNC ENSG00000167383 105 0 0.00 86 30 25.86 - - - ZNF292 0 genome.wustl.edu 37 6 87928331 87928331 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 87928331 87928331 G A SNP ZNF292 ENST00000369577 human ensembl 69_37n +1 known silent c.420 p.L140 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 50 0 0.00 29 13 30.95 - - - ZNF318 0 genome.wustl.edu 37 6 43305941 43305941 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 43305941 43305941 G A SNP ZNF318 ENST00000361428 human ensembl 69_37n -1 known missense c.5795 p.T1932I 0.004 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 28 0 0.00 21 5 19.23 - - - ZNF407 0 genome.wustl.edu 37 18 72343220 72343220 + Missense_Mutation SNP A A T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 18 72343220 72343220 A T SNP ZNF407 ENST00000299687 human ensembl 69_37n +1 known missense c.245 p.E82V 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 25 0 0.00 31 4 11.43 - - - ZNF414 0 genome.wustl.edu 37 19 8575609 8575609 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 8575609 8575609 G A SNP ZNF414 ENST00000393927 human ensembl 69_37n -1 known missense c.1139 p.S380L 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF414 HGNC ENSG00000133250 42 0 0.00 48 10 17.24 - - - ZNF430 0 genome.wustl.edu 37 19 21216270 21216270 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 21216270 21216270 G A SNP ZNF430 ENST00000261560 human ensembl 69_37n +1 known silent c.105 p.L35 0.125 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF430 HGNC ENSG00000118620 103 0 0.00 82 27 24.77 - - - ZNF432 0 genome.wustl.edu 37 19 52538020 52538020 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 52538020 52538020 G A SNP ZNF432 ENST00000221315 human ensembl 69_37n -1 known silent c.912 p.L304 0.987 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 ZNF432 HGNC ENSG00000256087 64 0 0.00 49 9 15.52 - - - ZNF443 0 genome.wustl.edu 37 19 12542336 12542336 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 12542336 12542336 C G SNP ZNF443 ENST00000301547 human ensembl 69_37n -1 known missense c.650 p.R217T 0.527 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 ZNF443 HGNC ENSG00000180855 82 0 0.00 88 16 15.24 - - - ZNF48 0 genome.wustl.edu 37 16 30410298 30410298 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 16 30410298 30410298 G A SNP ZNF48 ENST00000320159 human ensembl 69_37n +1 known missense c.1727 p.C576Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 38 0 0.00 43 5 10.42 - - - ZNF496 0 genome.wustl.edu 37 1 247464343 247464343 + Silent SNP G G T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 1 247464343 247464343 G T SNP ZNF496 ENST00000366498 human ensembl 69_37n -1 known silent c.1350 p.I450 0.981 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 55 0 0.00 70 16 18.60 - - - ZNF497 0 genome.wustl.edu 37 19 58868303 58868303 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 58868303 58868303 G A SNP ZNF497 ENST00000311044 human ensembl 69_37n -1 known silent c.699 p.F233 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF497 HGNC ENSG00000174586 26 0 0.00 36 8 18.18 - - - ZNF521 0 genome.wustl.edu 37 18 22806869 22806869 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 18 22806869 22806869 C T SNP ZNF521 ENST00000361524 human ensembl 69_37n -1 known missense c.1013 p.C338Y 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 48 0 0.00 56 9 13.85 - - - ZNF540 0 genome.wustl.edu 37 19 38102737 38102737 + Missense_Mutation SNP A A G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 38102737 38102737 A G SNP ZNF540 ENST00000316433 human ensembl 69_37n +1 known missense c.556 p.K186E 0.432 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF540 HGNC ENSG00000171817 22 0 0.00 23 10 30.30 - - - ZNF586 0 genome.wustl.edu 37 19 58287980 58287980 + Nonsense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 58287980 58287980 C T SNP ZNF586 ENST00000396154 human ensembl 69_37n +1 known nonsense c.106 p.Q36* 0.410 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF586 HGNC ENSG00000083828 137 0 0.00 173 56 24.45 - - - ZNF66P 0 genome.wustl.edu 37 19 20989859 20989859 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 20989859 20989859 G A SNP ZNF66P ENST00000344519 human ensembl 69_37n +1 novel missense c.1453 p.E485K 0.025 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 ZNF66P HGNC ENSG00000160229 17 0 0.00 19 4 17.39 - - - ZNF718 0 genome.wustl.edu 37 4 124673 124673 + RNA SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 4 124673 124673 C T SNP ZNF718 ENST00000511079 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors ZNF718 HGNC ENSG00000250312 43 0 0.00 55 17 23.29 - - - ZNF772 0 genome.wustl.edu 37 19 57985229 57985229 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 57985229 57985229 C T SNP ZNF772 ENST00000343280 human ensembl 69_37n -1 known missense c.883 p.E295K 0.000 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 ZNF772 HGNC ENSG00000197128 83 0 0.00 73 21 22.34 - - - ZNF790 0 genome.wustl.edu 37 19 37310934 37310934 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 37310934 37310934 C T SNP ZNF790 ENST00000356725 human ensembl 69_37n -1 known missense c.312 p.M104I 0.028 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF790 HGNC ENSG00000197863 57 0 0.00 53 6 10.17 - - - ZNF837 0 genome.wustl.edu 37 19 58879122 58879122 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 19 58879122 58879122 C T SNP ZNF837 ENST00000427624 human ensembl 69_37n -1 known silent c.1578 p.G526 0.885 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF837 HGNC ENSG00000152475 14 0 0.00 13 4 23.53 - - - ZSCAN23 0 genome.wustl.edu 37 6 28402590 28402590 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 6 28402590 28402590 C T SNP ZSCAN23 ENST00000289788 human ensembl 69_37n -1 known silent c.822 p.E274 1.000 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN23 HGNC ENSG00000187987 49 0 0.00 76 16 17.39 - - - ZSWIM6 0 genome.wustl.edu 37 5 60822144 60822144 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e575ee5-731c-49fd-80fc-944b861e0ea7 7b99568d-3c2e-41a9-b8b8-0ba296a21aaf 5 60822144 60822144 G A SNP ZSWIM6 ENST00000252744 human ensembl 69_37n +1 known silent c.1758 p.L586 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 43 0 0.00 26 5 16.13 - - -