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 ACVR1B 0 genome.wustl.edu 37 12 52377883 52377883 + Missense_Mutation SNP G G T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 12 52377883 52377883 G T SNP ACVR1B ENST00000257963 human ensembl 69_37n +1 known missense c.912 p.M304I 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_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1B HGNC ENSG00000135503 277 0 0.00 82 58 41.43 - - - ACVR1B 0 genome.wustl.edu 37 12 52380701 52380701 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 12 52380701 52380701 G C SNP ACVR1B ENST00000257963 human ensembl 69_37n +1 known missense c.1236 p.E412D 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_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1B HGNC ENSG00000135503 517 0 0.00 240 129 34.86 - - - AIM1 0 genome.wustl.edu 37 6 106967869 106967869 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 6 106967869 106967869 G C SNP AIM1 ENST00000369066 human ensembl 69_37n +1 known missense c.1562 p.G521A 0.010 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 65 0 0.00 48 13 21.31 - - - AK5 0 genome.wustl.edu 37 1 77748056 77748056 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 77748056 77748056 G C SNP AK5 ENST00000354567 human ensembl 69_37n +1 known missense c.58 p.E20Q 1.000 pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 128 0 0.00 63 30 31.91 - - - AKAP17A 0 genome.wustl.edu 37 X 1712954 1712954 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 X 1712954 1712954 C T SNP AKAP17A ENST00000313871 human ensembl 69_37n +1 known missense c.599 p.T200M 0.998 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 139 0 0.00 90 26 22.41 - - - ANO9 0 genome.wustl.edu 37 11 419605 419605 + Silent SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 11 419605 419605 C G SNP ANO9 ENST00000332826 human ensembl 69_37n -1 known silent c.1911 p.L637 0.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 154 0 0.00 49 28 35.90 - - - APOB 0 genome.wustl.edu 37 2 21232419 21232419 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 2 21232419 21232419 C T SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.7321 p.D2441N 0.029 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 278 0 0.00 255 78 23.35 - - - ARHGEF19 0 genome.wustl.edu 37 1 16525668 16525668 + Missense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 16525668 16525668 G A SNP ARHGEF19 ENST00000270747 human ensembl 69_37n -1 known missense c.2228 p.S743L 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,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 ARHGEF19 HGNC ENSG00000142632 227 0 0.00 114 38 25.00 - - - ARID1B 0 genome.wustl.edu 37 6 157528895 157528895 + Missense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 6 157528895 157528895 G A SNP ARID1B ENST00000367148 human ensembl 69_37n +1 known missense c.6740 p.R2247K 0.995 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 108 0 0.00 52 18 25.71 - - - ARID4B 0 genome.wustl.edu 37 1 235345497 235345497 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 235345497 235345497 C G SNP ARID4B ENST00000264183 human ensembl 69_37n -1 known missense c.2737 p.D913H 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 114 0 0.00 191 32 14.35 - - - ATP10B 0 genome.wustl.edu 37 5 160076224 160076224 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 5 160076224 160076224 C T SNP ATP10B ENST00000327245 human ensembl 69_37n -1 known missense c.715 p.V239M 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl 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 ATP10B HGNC ENSG00000118322 493 0 0.00 391 109 21.80 - - - BAIAP2L1 0 genome.wustl.edu 37 7 97937087 97937087 + Silent SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 7 97937087 97937087 G C SNP BAIAP2L1 ENST00000005260 human ensembl 69_37n -1 known silent c.1077 p.L359 0.088 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 414 0 0.00 209 69 24.73 - - - BANK1 0 genome.wustl.edu 37 4 102946639 102946639 + Missense_Mutation SNP C C A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 4 102946639 102946639 C A SNP BANK1 ENST00000322953 human ensembl 69_37n +1 known missense c.1567 p.L523M 0.220 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 142 0 0.00 61 41 39.81 - - - BAZ2B 0 genome.wustl.edu 37 2 160257133 160257133 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 2 160257133 160257133 G C SNP BAZ2B ENST00000392783 human ensembl 69_37n -1 known missense c.2875 p.L959V 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 194 0 0.00 156 72 31.44 - - - BRS3 0 genome.wustl.edu 37 X 135570328 135570328 + Missense_Mutation SNP G G T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 X 135570328 135570328 G T SNP BRS3 ENST00000370648 human ensembl 69_37n +1 known missense c.55 p.D19Y 1.000 prints_Bombesin_rcpt_3 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors BRS3 HGNC ENSG00000102239 260 0 0.00 194 71 26.79 - - - C11orf20 0 genome.wustl.edu 37 11 64068205 64068205 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 11 64068205 64068205 C G SNP C11orf20 ENST00000328404 human ensembl 69_37n +1 known missense c.98 p.T33R 0.063 NULL NULL - no_errors C11orf20 HGNC ENSG00000219435 53 0 0.00 24 12 33.33 - - - C11orf20 0 genome.wustl.edu 37 11 64072038 64072038 + Missense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 11 64072038 64072038 G A SNP C11orf20 ENST00000328404 human ensembl 69_37n +1 known missense c.523 p.D175N 0.091 NULL NULL - no_errors C11orf20 HGNC ENSG00000219435 114 1 0.86 46 14 23.33 - - - C1QTNF7 0 genome.wustl.edu 37 4 15444327 15444327 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 4 15444327 15444327 C G SNP C1QTNF7 ENST00000429690 human ensembl 69_37n +1 known missense c.774 p.F258L 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF7 HGNC ENSG00000163145 131 0 0.00 47 22 31.88 - - - C20orf26 0 genome.wustl.edu 37 20 20269469 20269469 + Nonsense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 20 20269469 20269469 C T SNP C20orf26 ENST00000245957 human ensembl 69_37n +1 known nonsense c.3013 p.Q1005* 0.997 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 193 0 0.00 114 36 24.00 - - - C2orf50 0 genome.wustl.edu 37 2 11284204 11284204 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 2 11284204 11284204 G C SNP C2orf50 ENST00000381585 human ensembl 69_37n +1 known missense c.456 p.K152N 1.000 NULL NULL - no_errors C2orf50 HGNC ENSG00000150873 78 0 0.00 50 14 21.88 - - - CASC3 0 genome.wustl.edu 37 17 38296935 38296935 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 17 38296935 38296935 G C SNP CASC3 ENST00000264645 human ensembl 69_37n +1 known missense c.134 p.S45T 0.998 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 13 0 0.00 5 5 50.00 - - - CCDC84 0 genome.wustl.edu 37 11 118885784 118885784 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 11 118885784 118885784 C G SNP CCDC84 ENST00000334418 human ensembl 69_37n +1 known missense c.796 p.L266V 1.000 NULL NULL - no_errors CCDC84 HGNC ENSG00000186166 91 0 0.00 103 36 25.90 - - - CD1E 0 genome.wustl.edu 37 1 158325653 158325653 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 158325653 158325653 C G SNP CD1E ENST00000368167 human ensembl 69_37n +1 known missense c.662 p.P221R 0.057 pfscan_Ig-like pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1E HGNC ENSG00000158488 245 0 0.00 162 38 19.00 - - - CDC5L 0 genome.wustl.edu 37 6 44358031 44358031 + Missense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 6 44358031 44358031 G A SNP CDC5L ENST00000371477 human ensembl 69_37n +1 known missense c.72 p.M24I 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 398 0 0.00 326 97 22.93 - - - CDHR1 0 genome.wustl.edu 37 10 85962805 85962805 + Missense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 10 85962805 85962805 G A SNP CDHR1 ENST00000372117 human ensembl 69_37n +1 known missense c.709 p.E237K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 498 1 0.20 261 63 19.38 - - - CEACAM18 0 genome.wustl.edu 37 19 51983701 51983701 + Missense_Mutation SNP T T A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 19 51983701 51983701 T A SNP CEACAM18 ENST00000451626 human ensembl 69_37n +1 known missense c.350 p.V117D 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM18 HGNC ENSG00000213822 265 0 0.00 154 47 23.38 - - - CENPO 0 genome.wustl.edu 37 2 25040616 25040616 + Nonsense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 2 25040616 25040616 C T SNP CENPO ENST00000260662 human ensembl 69_37n +1 known nonsense c.844 p.Q282* 0.009 NULL pfam_Centromere_CenpO - no_errors CENPO HGNC ENSG00000138092 383 0 0.00 242 72 22.86 - - - COL23A1 0 genome.wustl.edu 37 5 177669088 177669088 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 5 177669088 177669088 C G SNP COL23A1 ENST00000390654 human ensembl 69_37n -1 known missense c.1536 p.Q512H 1.000 pfam_Collagen pfam_Collagen - no_errors COL23A1 HGNC ENSG00000050767 105 0 0.00 46 11 19.30 - - - CORO2A 0 genome.wustl.edu 37 9 100890527 100890527 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 9 100890527 100890527 C T SNP CORO2A ENST00000343933 human ensembl 69_37n -1 known missense c.1096 p.E366K 1.000 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC ENSG00000106789 425 1 0.23 270 86 24.09 - - - CPZ 0 genome.wustl.edu 37 4 8607783 8607783 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 4 8607783 8607783 C G SNP CPZ ENST00000360986 human ensembl 69_37n +1 known missense c.777 p.I259M 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14 - no_errors CPZ HGNC ENSG00000109625 262 1 0.38 84 56 40.00 - - - CUBN 0 genome.wustl.edu 37 10 16955917 16955917 + Missense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 10 16955917 16955917 G A SNP CUBN ENST00000377833 human ensembl 69_37n -1 known missense c.7426 p.R2476W 0.962 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 205 1 0.49 172 34 16.50 - - - DMC1 0 genome.wustl.edu 37 22 38933603 38933603 + Missense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 22 38933603 38933603 G A SNP DMC1 ENST00000216024 human ensembl 69_37n -1 known missense c.830 p.T277I 1.000 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase - no_errors DMC1 HGNC ENSG00000100206 280 0 0.00 154 89 36.63 - - - DNAH2 0 genome.wustl.edu 37 17 7667478 7667478 + Missense_Mutation SNP T T G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 17 7667478 7667478 T G SNP DNAH2 ENST00000389173 human ensembl 69_37n +1 known missense c.3223 p.L1075V 0.006 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 305 0 0.00 146 87 37.34 - - - DOCK11 0 genome.wustl.edu 37 X 117679991 117679991 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 X 117679991 117679991 C T SNP DOCK11 ENST00000276202 human ensembl 69_37n +1 known missense c.470 p.S157F 0.890 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 591 0 0.00 451 173 27.68 - - - DOK3 0 genome.wustl.edu 37 5 176931433 176931433 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 5 176931433 176931433 C G SNP DOK3 ENST00000357198 human ensembl 69_37n -1 known missense c.1042 p.E348Q 0.001 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK3 HGNC ENSG00000146094 58 0 0.00 34 12 26.09 - - - DPY19L4 0 genome.wustl.edu 37 8 95751734 95751734 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 8 95751734 95751734 G C SNP DPY19L4 ENST00000414645 human ensembl 69_37n +1 known missense c.437 p.S146T 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L4 HGNC ENSG00000156162 350 0 0.00 381 95 19.96 - - - ECM1 0 genome.wustl.edu 37 1 150484178 150484178 + Silent SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 150484178 150484178 C T SNP ECM1 ENST00000369049 human ensembl 69_37n +1 known silent c.1035 p.F345 0.966 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 72 0 0.00 40 14 25.93 - - - EML2 0 genome.wustl.edu 37 19 46128000 46128000 + Missense_Mutation SNP C C A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 19 46128000 46128000 C A SNP EML2 ENST00000587152 human ensembl 69_37n -1 known missense c.1421 p.G474V 1.000 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 139 0 0.00 48 22 31.43 - - - EPS8L1 0 genome.wustl.edu 37 19 55591557 55591557 + Missense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 19 55591557 55591557 G A SNP EPS8L1 ENST00000201647 human ensembl 69_37n +1 known missense c.340 p.G114S 0.713 pfam_PTB,smart_PTyr_interaction_dom pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 36 0 0.00 27 5 15.62 - - - ERG 0 genome.wustl.edu 37 21 39817464 39817464 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 21 39817464 39817464 C T SNP ERG ENST00000398919 human ensembl 69_37n -1 known missense c.120 p.M40I 1.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ERG HGNC ENSG00000157554 184 0 0.00 89 44 33.08 - - - FAM114A2 0 genome.wustl.edu 37 5 153409057 153409057 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 5 153409057 153409057 G C SNP FAM114A2 ENST00000351797 human ensembl 69_37n -1 known missense c.487 p.Q163E 1.000 pfam_DUF719 pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 285 0 0.00 192 49 20.33 - - - FAM22F 0 genome.wustl.edu 37 9 97082696 97082696 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 9 97082696 97082696 C T SNP FAM22F ENST00000253262 human ensembl 69_37n -1 known missense c.1162 p.E388K 0.469 NULL NULL - no_errors FAM22F HGNC ENSG00000130950 335 0 0.00 172 50 22.52 - - - FAM83F 0 genome.wustl.edu 37 22 40425538 40425538 + Missense_Mutation SNP C C A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 22 40425538 40425538 C A SNP FAM83F ENST00000333407 human ensembl 69_37n +1 known missense c.1472 p.S491Y 0.002 NULL pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 404 0 0.00 139 84 37.67 - - - FASTK 0 genome.wustl.edu 37 7 150774081 150774081 + Silent SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 7 150774081 150774081 G A SNP FASTK ENST00000297532 human ensembl 69_37n -1 known silent c.1461 p.F487 1.000 pfam_RAP,smart_RAP pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 67 0 0.00 51 16 23.53 - - - FBXO15 0 genome.wustl.edu 37 18 71740747 71740747 + Silent SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 18 71740747 71740747 G A SNP FBXO15 ENST00000419743 human ensembl 69_37n -1 known silent c.1482 p.V494 0.167 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO15 HGNC ENSG00000141665 367 0 0.00 182 79 30.15 - - - FLJ43860 0 genome.wustl.edu 37 8 142506533 142506533 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 8 142506533 142506533 C T SNP FLJ43860 ENST00000521161 human ensembl 69_37n -1 putative missense c.44 p.R15H 0.000 NULL NULL - no_stop_codon AC100803.1 Clone_based_vega_gene ENSG00000226807 462 0 0.00 236 106 30.81 - - - G3BP1 0 genome.wustl.edu 37 5 151178806 151178806 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 5 151178806 151178806 C G SNP G3BP1 ENST00000356245 human ensembl 69_37n +1 known missense c.775 p.L259V 1.000 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 237 0 0.00 161 40 19.90 - - - GPN2 0 genome.wustl.edu 37 1 27216558 27216558 + Silent SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 27216558 27216558 G A SNP GPN2 ENST00000374135 human ensembl 69_37n -1 known silent c.30 p.F10 0.971 NULL pfam_Uncharacterised_ATP-bd - no_errors GPN2 HGNC ENSG00000142751 8 0 0.00 7 4 36.36 - - - GPR179 0 genome.wustl.edu 37 17 36482587 36482587 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 17 36482587 36482587 C T SNP GPR179 ENST00000342292 human ensembl 69_37n -1 known missense c.6865 p.E2289K 0.997 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 183 0 0.00 86 44 33.85 - - - GREB1 0 genome.wustl.edu 37 2 11702668 11702668 + Missense_Mutation SNP C C A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 2 11702668 11702668 C A SNP GREB1 ENST00000234142 human ensembl 69_37n +1 known missense c.237 p.F79L 1.000 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 203 0 0.00 102 40 27.97 - - - GTDC2 0 genome.wustl.edu 37 3 43122777 43122777 + Silent SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 3 43122777 43122777 C T SNP GTDC2 ENST00000344697 human ensembl 69_37n -1 known silent c.147 p.L49 0.000 NULL pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors GTDC2 HGNC ENSG00000144647 84 0 0.00 27 12 30.00 - - - HIST1H2BC 0 genome.wustl.edu 37 6 26123759 26123759 + Missense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 6 26123759 26123759 G A SNP HIST1H2BC ENST00000314332 human ensembl 69_37n -1 known missense c.374 p.S125F 1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 356 0 0.00 282 80 22.10 - - - HIST2H3D 0 genome.wustl.edu 37 1 149785205 149785205 + Missense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 149785205 149785205 G A SNP HIST2H3D ENST00000331491 human ensembl 69_37n -1 known missense c.32 p.S11L 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST2H3D HGNC ENSG00000183598 87 0 0.00 65 13 16.67 - - - HORMAD1 0 genome.wustl.edu 37 1 150684035 150684035 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 150684035 150684035 G C SNP HORMAD1 ENST00000361824 human ensembl 69_37n -1 known missense c.313 p.P105A 1.000 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC ENSG00000143452 354 0 0.00 327 96 22.70 - - - IGDCC3 0 genome.wustl.edu 37 15 65628154 65628154 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 15 65628154 65628154 C G SNP IGDCC3 ENST00000327987 human ensembl 69_37n -1 known missense c.550 p.E184Q 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC3 HGNC ENSG00000174498 403 0 0.00 143 74 34.10 - - - IQGAP3 0 genome.wustl.edu 37 1 156531792 156531792 + Silent SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 156531792 156531792 G C SNP IQGAP3 ENST00000361170 human ensembl 69_37n -1 known silent c.879 p.V293 0.993 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 123 0 0.00 83 12 12.63 - - - ITSN2 0 genome.wustl.edu 37 2 24484608 24484608 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 2 24484608 24484608 C T SNP ITSN2 ENST00000355123 human ensembl 69_37n -1 known missense c.2359 p.D787N 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 193 0 0.00 217 70 24.39 - - - IVD 0 genome.wustl.edu 37 15 40710373 40710373 + Nonsense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 15 40710373 40710373 C T SNP IVD ENST00000487418 human ensembl 69_37n +1 known nonsense c.1192 p.R398* 1.000 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors IVD HGNC ENSG00000128928 250 0 0.00 80 42 34.43 - - - KLK15 0 genome.wustl.edu 37 19 51330233 51330233 + Missense_Mutation SNP G G T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 19 51330233 51330233 G T SNP KLK15 ENST00000326856 human ensembl 69_37n -1 known missense c.382 p.P128T 1.000 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 KLK15 HGNC ENSG00000174562 42 0 0.00 29 6 17.14 - - - LAMB1 0 genome.wustl.edu 37 7 107594139 107594139 + Nonsense_Mutation SNP G G T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 7 107594139 107594139 G T SNP LAMB1 ENST00000222399 human ensembl 69_37n -1 known nonsense c.2915 p.S972* 0.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 180 0 0.00 116 46 28.40 - - - MACC1 0 genome.wustl.edu 37 7 20199737 20199737 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 7 20199737 20199737 G C SNP MACC1 ENST00000332878 human ensembl 69_37n -1 known missense c.247 p.Q83E 0.962 NULL pfam_SH3_2,superfamily_DEATH-like - no_errors MACC1 HGNC ENSG00000183742 134 0 0.00 104 38 26.76 - - - MACF1 0 genome.wustl.edu 37 1 39797744 39797744 + Silent SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 39797744 39797744 G A SNP MACF1 ENST00000567887 human ensembl 69_37n +1 putative silent c.5595 p.V1865 0.023 pfam_Plectin_repeat,superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,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 MACF1 HGNC ENSG00000127603 247 0 0.00 133 38 22.22 - - - MACF1 0 genome.wustl.edu 37 1 39798309 39798309 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 39798309 39798309 G C SNP MACF1 ENST00000567887 human ensembl 69_37n +1 putative missense c.6160 p.E2054Q 0.000 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,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 MACF1 HGNC ENSG00000127603 217 0 0.00 184 56 23.33 - - - MAGEB1 0 genome.wustl.edu 37 X 30269315 30269315 + Missense_Mutation SNP C C A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 X 30269315 30269315 C A SNP MAGEB1 ENST00000378981 human ensembl 69_37n +1 known missense c.705 p.H235Q 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 309 1 0.32 269 71 20.88 - - - MAGEB10 0 genome.wustl.edu 37 X 27839536 27839536 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 X 27839536 27839536 C T SNP MAGEB10 ENST00000356790 human ensembl 69_37n +1 known missense c.113 p.S38F 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 159 0 0.00 107 29 21.17 - - - MAN1B1 0 genome.wustl.edu 37 9 139995528 139995528 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 9 139995528 139995528 G C SNP MAN1B1 ENST00000371589 human ensembl 69_37n +1 known missense c.988 p.E330Q 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC ENSG00000177239 235 0 0.00 106 42 28.38 - - - MAP2K1 0 genome.wustl.edu 37 15 66774131 66774131 + Missense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 15 66774131 66774131 G A SNP MAP2K1 ENST00000307102 human ensembl 69_37n +1 known missense c.607 p.E203K 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K1 HGNC ENSG00000169032 526 0 0.00 185 87 31.99 - - - METTL5 0 genome.wustl.edu 37 2 170668867 170668867 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 2 170668867 170668867 C G SNP METTL5 ENST00000410097 human ensembl 69_37n -1 putative missense c.691 p.E231Q 0.022 NULL pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_RNA_cap_Gua-N2-MeTrfase,pfam_Methyltransf_11 - no_errors METTL5 HGNC ENSG00000138382 190 0 0.00 97 47 32.41 - - - MLXIP 0 genome.wustl.edu 37 12 122516984 122516984 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 12 122516984 122516984 G C SNP MLXIP ENST00000319080 human ensembl 69_37n +1 known missense c.225 p.Q75H 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors MLXIP HGNC ENSG00000175727 46 0 0.00 9 4 30.77 - - - MYT1L 0 genome.wustl.edu 37 2 1805566 1805566 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 2 1805566 1805566 C G SNP MYT1L ENST00000399161 human ensembl 69_37n -1 known missense c.3178 p.E1060Q 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 430 0 0.00 1028 158 13.32 - - - NALCN 0 genome.wustl.edu 37 13 102030929 102030929 + Missense_Mutation SNP C C A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 13 102030929 102030929 C A SNP NALCN ENST00000251127 human ensembl 69_37n -1 known missense c.367 p.V123L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 229 0 0.00 212 75 26.13 - - - NCKAP5 0 genome.wustl.edu 37 2 133636435 133636435 + Silent SNP G G T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 2 133636435 133636435 G T SNP NCKAP5 ENST00000317721 human ensembl 69_37n -1 known silent c.634 p.R212 0.721 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 691 0 0.00 323 138 29.87 - - - NFIB 0 genome.wustl.edu 37 9 14146751 14146751 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 9 14146751 14146751 C G SNP NFIB ENST00000397581 human ensembl 69_37n -1 known missense c.862 p.D288H 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIB HGNC ENSG00000147862 653 1 0.15 535 146 21.44 - - - NFKBIA 0 genome.wustl.edu 37 14 35873760 35873760 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 14 35873760 35873760 C T SNP NFKBIA ENST00000216797 human ensembl 69_37n -1 known missense c.91 p.D31N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIA HGNC ENSG00000100906 37 0 0.00 14 6 30.00 - - - NOTCH4 0 genome.wustl.edu 37 6 32190561 32190561 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 6 32190561 32190561 C G SNP NOTCH4 ENST00000375023 human ensembl 69_37n -1 known missense c.178 p.E60Q 1.000 smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 104 0 0.00 60 19 24.05 - - - NPAT 0 genome.wustl.edu 37 11 108031617 108031617 + Missense_Mutation SNP T T C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 11 108031617 108031617 T C SNP NPAT ENST00000278612 human ensembl 69_37n -1 known missense c.4196 p.K1399R 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 339 0 0.00 250 87 25.82 - - - NPAT 0 genome.wustl.edu 37 11 108032049 108032049 + Nonsense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 11 108032049 108032049 G C SNP NPAT ENST00000278612 human ensembl 69_37n -1 known nonsense c.3764 p.S1255* 0.998 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 256 0 0.00 209 76 26.57 - - - NPDC1 0 genome.wustl.edu 37 9 139934476 139934476 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 9 139934476 139934476 C G SNP NPDC1 ENST00000371600 human ensembl 69_37n -1 known missense c.1066 p.E356Q 0.867 pfam_NPDC1 pfam_NPDC1 - no_errors NPDC1 HGNC ENSG00000107281 175 0 0.00 66 28 29.79 - - - NT5C1B 0 genome.wustl.edu 37 2 18757611 18757611 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 2 18757611 18757611 C G SNP NT5C1B ENST00000359846 human ensembl 69_37n -1 known missense c.1348 p.D450H 0.766 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 207 0 0.00 125 27 17.76 - - - OR10J1 0 genome.wustl.edu 37 1 159409770 159409770 + Silent SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 159409770 159409770 G C SNP OR10J1 ENST00000423932 human ensembl 69_37n +1 known silent c.222 p.L74 0.077 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 384 0 0.00 248 59 19.16 - - - OR2G3 0 genome.wustl.edu 37 1 247769442 247769442 + Silent SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 247769442 247769442 C G SNP OR2G3 ENST00000320002 human ensembl 69_37n +1 known silent c.555 p.L185 0.541 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 OR2G3 HGNC ENSG00000177476 664 0 0.00 629 92 12.76 - - - OR2T35 0 genome.wustl.edu 37 1 248801684 248801684 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 248801684 248801684 C G SNP OR2T35 ENST00000317450 human ensembl 69_37n -1 known missense c.876 p.L292F 0.960 prints_Olfact_rcpt,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 OR2T35 HGNC ENSG00000177151 110 1 0.90 102 24 19.05 - - - OS9 0 genome.wustl.edu 37 12 58112055 58112055 + Missense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 12 58112055 58112055 G A SNP OS9 ENST00000315970 human ensembl 69_37n +1 known missense c.1261 p.E421K 0.648 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 1098 0 0.00 454 179 28.23 - - - OTOP2 0 genome.wustl.edu 37 17 72926762 72926762 + Silent SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 17 72926762 72926762 G C SNP OTOP2 ENST00000331427 human ensembl 69_37n +1 known silent c.1032 p.L344 0.478 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 86 0 0.00 23 17 42.50 - - - PCDHB1 0 genome.wustl.edu 37 5 140431703 140431703 + Silent SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 5 140431703 140431703 C T SNP PCDHB1 ENST00000306549 human ensembl 69_37n +1 known silent c.648 p.D216 0.339 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 PCDHB1 HGNC ENSG00000171815 48 0 0.00 21 6 22.22 - - - PDE4D 0 genome.wustl.edu 37 5 58270700 58270700 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 5 58270700 58270700 C G SNP PDE4D ENST00000340635 human ensembl 69_37n -1 known missense c.2221 p.E741Q 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 344 0 0.00 137 71 34.13 - - - PHACTR1 0 genome.wustl.edu 37 6 13283675 13283675 + Nonsense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 6 13283675 13283675 G A SNP PHACTR1 ENST00000415087 human ensembl 69_37n +1 known nonsense c.1035 p.W345* 1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PHACTR1 HGNC ENSG00000112137 173 0 0.00 103 30 22.56 - - - PHB2 0 genome.wustl.edu 37 12 7076337 7076337 + Silent SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 12 7076337 7076337 C T SNP PHB2 ENST00000399433 human ensembl 69_37n -1 known silent c.786 p.K262 1.000 NULL pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB2 HGNC ENSG00000215021 348 0 0.00 127 52 28.57 - - - PKD1 0 genome.wustl.edu 37 16 2140301 2140301 + Silent SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 16 2140301 2140301 G C SNP PKD1 ENST00000262304 human ensembl 69_37n -1 known silent c.12429 p.L4143 1.000 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,prints_PKD_1,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 82 0 0.00 30 15 33.33 - - - PRDM5 0 genome.wustl.edu 37 4 121616407 121616407 + Silent SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 4 121616407 121616407 C T SNP PRDM5 ENST00000264808 human ensembl 69_37n -1 known silent c.1752 p.L584 1.000 smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 259 0 0.00 152 65 29.95 - - - PRMT10 0 genome.wustl.edu 37 4 148575483 148575483 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 4 148575483 148575483 G C SNP PRMT10 ENST00000322396 human ensembl 69_37n -1 known missense c.1565 p.S522C 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC ENSG00000164169 358 0 0.00 193 90 31.69 - - - PRPF8 0 genome.wustl.edu 37 17 1554097 1554097 + Silent SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 17 1554097 1554097 C T SNP PRPF8 ENST00000304992 human ensembl 69_37n -1 known silent c.7007 p.*2336 0.823 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 152 0 0.00 48 27 36.00 - - - PTPRH 0 genome.wustl.edu 37 19 55716783 55716783 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 19 55716783 55716783 C T SNP PTPRH ENST00000376350 human ensembl 69_37n -1 known missense c.530 p.G177E 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 508 0 0.00 323 105 24.48 - - - PUM1 0 genome.wustl.edu 37 1 31437562 31437562 + Missense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 31437562 31437562 G A SNP PUM1 ENST00000426105 human ensembl 69_37n -1 known missense c.2282 p.P761L 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 553 0 0.00 350 94 21.12 - - - RAET1G 0 genome.wustl.edu 37 6 150240756 150240756 + Silent SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 6 150240756 150240756 C T SNP RAET1G ENST00000367360 human ensembl 69_37n -1 known silent c.282 p.L94 0.016 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1G HGNC ENSG00000203722 1414 0 0.00 892 208 18.91 - - - RB1 0 genome.wustl.edu 37 13 48955532 48955532 + Missense_Mutation SNP T T A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 13 48955532 48955532 T A SNP RB1 ENST00000267163 human ensembl 69_37n +1 known missense c.1648 p.L550I 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 226 0 0.00 115 42 26.75 - - - RB1 0 genome.wustl.edu 37 13 48955534 48955534 + Frame_Shift_Del DEL A A - TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 13 48955534 48955534 A - DEL RB1 ENST00000267163 human ensembl 69_37n +1 known frame_shift_del c.1650 p.E551fs 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 222 0 0.00 113 38 24.84 - - - RBM14 0 genome.wustl.edu 37 11 66392812 66392812 + Nonsense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 11 66392812 66392812 C T SNP RBM14 ENST00000310137 human ensembl 69_37n +1 known nonsense c.1465 p.Q489* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 54 0 0.00 25 9 26.47 - - - RFX3 0 genome.wustl.edu 37 9 3263041 3263041 + Missense_Mutation SNP G G T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 9 3263041 3263041 G T SNP RFX3 ENST00000382004 human ensembl 69_37n -1 known missense c.1499 p.T500K 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 320 1 0.31 146 45 23.56 - - - RLTPR 0 genome.wustl.edu 37 16 67682005 67682005 + Silent SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 16 67682005 67682005 C T SNP RLTPR ENST00000334583 human ensembl 69_37n +1 known silent c.1122 p.L374 0.995 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 154 0 0.00 71 30 29.70 - - - RNF6 0 genome.wustl.edu 37 13 26793693 26793693 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 13 26793693 26793693 C T SNP RNF6 ENST00000346166 human ensembl 69_37n -1 known missense c.94 p.E32K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 507 0 0.00 241 101 29.53 - - - SAGE1 0 genome.wustl.edu 37 X 134995026 134995026 + Silent SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 X 134995026 134995026 C G SNP SAGE1 ENST00000324447 human ensembl 69_37n +1 known silent c.2685 p.L895 0.001 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 195 0 0.00 160 55 25.58 - - - SCARA3 0 genome.wustl.edu 37 8 27528720 27528720 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 8 27528720 27528720 C T SNP SCARA3 ENST00000301904 human ensembl 69_37n +1 known missense c.1673 p.S558L 0.317 pfam_Collagen pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 12 0 0.00 9 5 35.71 - - - SFTPB 0 genome.wustl.edu 37 2 85893784 85893784 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 2 85893784 85893784 C G SNP SFTPB ENST00000393822 human ensembl 69_37n -1 known missense c.385 p.D129H 0.003 pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB pfam_SapB_2,pfam_SapA,pfam_SapB_1,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin - no_errors SFTPB HGNC ENSG00000168878 231 1 0.43 123 34 21.66 - - - SIGLEC7 0 genome.wustl.edu 37 19 51649165 51649165 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 19 51649165 51649165 C G SNP SIGLEC7 ENST00000317643 human ensembl 69_37n +1 known missense c.814 p.L272V 0.009 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC7 HGNC ENSG00000168995 349 0 0.00 184 52 21.85 - - - SLC15A5 0 genome.wustl.edu 37 12 16377519 16377519 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 12 16377519 16377519 C G SNP SLC15A5 ENST00000344941 human ensembl 69_37n -1 novel missense c.1180 p.A394P 1.000 pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A5 HGNC ENSG00000188991 173 0 0.00 70 33 32.04 - - - SLC2A12 0 genome.wustl.edu 37 6 134349970 134349970 + Silent SNP G G T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 6 134349970 134349970 G T SNP SLC2A12 ENST00000275230 human ensembl 69_37n -1 known silent c.993 p.T331 0.997 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,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 166 1 0.60 102 37 26.62 - - - SLC35B2 0 genome.wustl.edu 37 6 44223268 44223268 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 6 44223268 44223268 C T SNP SLC35B2 ENST00000393812 human ensembl 69_37n -1 known missense c.474 p.M158I 1.000 pfam_UAA pfam_UAA,pfam_DMT - no_errors SLC35B2 HGNC ENSG00000157593 199 0 0.00 87 31 26.27 - - - SLC7A1 0 genome.wustl.edu 37 13 30091320 30091320 + Silent SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 13 30091320 30091320 G A SNP SLC7A1 ENST00000380752 human ensembl 69_37n -1 known silent c.1638 p.I546 0.997 pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 67 0 0.00 21 7 25.00 - - - SNURFL 0 genome.wustl.edu 37 X 138444474 138444474 + Missense_Mutation SNP G G T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 X 138444474 138444474 G T SNP SNURFL ENST00000309296 human ensembl 69_37n +1 known missense c.216 p.K72N 0.039 NULL pfam_SNURF - no_stop_codon:bad_bp_length_for_coding_region SNURFL HGNC ENSG00000173954 77 0 0.00 55 15 21.43 - - - SOX11 0 genome.wustl.edu 37 2 5833196 5833196 + Missense_Mutation SNP G G T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 2 5833196 5833196 G T SNP SOX11 ENST00000322002 human ensembl 69_37n +1 known missense c.343 p.D115Y 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily - no_errors SOX11 HGNC ENSG00000176887 56 0 0.00 52 7 11.86 - - - SPARC 0 genome.wustl.edu 37 5 151047100 151047100 + Silent SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 5 151047100 151047100 G C SNP SPARC ENST00000231061 human ensembl 69_37n -1 known silent c.513 p.L171 0.996 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Follistatin/Osteonectin_EGF,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Fol_N,smart_Prot_inh_Kazal - no_errors SPARC HGNC ENSG00000113140 178 0 0.00 77 22 22.22 - - - STAG3 0 genome.wustl.edu 37 7 99799582 99799582 + Nonsense_Mutation SNP C C A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 7 99799582 99799582 C A SNP STAG3 ENST00000317296 human ensembl 69_37n +1 known nonsense c.2312 p.S771* 0.050 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 307 0 0.00 240 71 22.83 - - - SYBU 0 genome.wustl.edu 37 8 110587700 110587700 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 8 110587700 110587700 C T SNP SYBU ENST00000276646 human ensembl 69_37n -1 known missense c.1427 p.G476D 0.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 336 0 0.00 193 69 26.24 - - - SYCP2 0 genome.wustl.edu 37 20 58494610 58494610 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 20 58494610 58494610 G C SNP SYCP2 ENST00000357552 human ensembl 69_37n -1 known missense c.340 p.Q114E 0.004 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 273 0 0.00 291 69 19.11 - - - SYNE1 0 genome.wustl.edu 37 6 152599233 152599233 + Silent SNP G G T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 6 152599233 152599233 G T SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known silent c.18564 p.L6188 0.998 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 100 0 0.00 54 18 25.00 - - - TARBP2 0 genome.wustl.edu 37 12 53895943 53895943 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 12 53895943 53895943 C T SNP TARBP2 ENST00000550407 human ensembl 69_37n +1 putative missense c.109 p.H37Y 1.000 pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TARBP2 HGNC ENSG00000139546 194 0 0.00 60 19 24.05 - - - TCHH 0 genome.wustl.edu 37 1 152083125 152083125 + Silent SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 152083125 152083125 G C SNP TCHH ENST00000368804 human ensembl 69_37n -1 known silent c.2568 p.L856 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 121 0 0.00 83 10 10.64 - - - TFR2 0 genome.wustl.edu 37 7 100238598 100238598 + Splice_Site SNP C C A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 7 100238598 100238598 C A SNP TFR2 ENST00000223051 human ensembl 69_37n -1 known splice_site c.286+1 e2+1 1.000 - - - no_errors TFR2 HGNC ENSG00000106327 38 0 0.00 23 11 32.35 - - - TGM5 0 genome.wustl.edu 37 15 43545083 43545083 + Missense_Mutation SNP A A G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 15 43545083 43545083 A G SNP TGM5 ENST00000220420 human ensembl 69_37n -1 known missense c.736 p.Y246H 0.982 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 155 1 0.63 70 29 29.29 - - - THRSP 0 genome.wustl.edu 37 11 77775298 77775298 + Missense_Mutation SNP T T C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 11 77775298 77775298 T C SNP THRSP ENST00000281030 human ensembl 69_37n +1 known missense c.371 p.L124P 1.000 pfam_Spot_14 pfam_Spot_14 - no_errors THRSP HGNC ENSG00000151365 235 0 0.00 167 30 15.23 - - - TIGIT 0 genome.wustl.edu 37 3 114014431 114014431 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 3 114014431 114014431 C T SNP TIGIT ENST00000383671 human ensembl 69_37n +1 known missense c.101 p.S34F 1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors TIGIT HGNC ENSG00000181847 144 0 0.00 77 23 23.00 - - - TMA16 0 genome.wustl.edu 37 4 164436573 164436573 + Missense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 4 164436573 164436573 G A SNP TMA16 ENST00000509657 human ensembl 69_37n +1 putative missense c.463 p.D155N 0.002 pfam_DUF2962 pfam_DUF2962 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TMA16 HGNC ENSG00000198498 261 1 0.38 105 48 31.37 - - - TMEM37 0 genome.wustl.edu 37 2 120194851 120194851 + Silent SNP C C A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 2 120194851 120194851 C A SNP TMEM37 ENST00000306406 human ensembl 69_37n +1 known silent c.408 p.V136 0.040 NULL NULL - no_errors TMEM37 HGNC ENSG00000171227 222 0 0.00 89 20 18.35 - - - TMTC1 0 genome.wustl.edu 37 12 29709801 29709801 + Silent SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 12 29709801 29709801 C T SNP TMTC1 ENST00000256062 human ensembl 69_37n -1 known silent c.1341 p.G447 0.811 pfam_PIK-rel_kinase_FAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 436 0 0.00 162 63 28.00 - - - TNKS2 0 genome.wustl.edu 37 10 93572805 93572805 + Missense_Mutation SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 10 93572805 93572805 G A SNP TNKS2 ENST00000371627 human ensembl 69_37n +1 known missense c.265 p.D89N 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 474 0 0.00 233 111 32.27 - - - TOPBP1 0 genome.wustl.edu 37 3 133339115 133339115 + Silent SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 3 133339115 133339115 C T SNP TOPBP1 ENST00000260810 human ensembl 69_37n -1 known silent c.3255 p.V1085 0.975 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 480 0 0.00 367 95 20.52 - - - TP53 0 genome.wustl.edu 37 17 7578203 7578203 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 17 7578203 7578203 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.646 p.V216M 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 454 0 0.00 210 99 32.04 - - - TPM3 0 genome.wustl.edu 37 1 154163705 154163705 + Missense_Mutation SNP T T A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 154163705 154163705 T A SNP TPM3 ENST00000368530 human ensembl 69_37n -1 known missense c.200 p.D67V 1.000 pfam_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM3 HGNC ENSG00000143549 556 0 0.00 499 111 18.20 - - - TRIM23 0 genome.wustl.edu 37 5 64892251 64892251 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 5 64892251 64892251 G C SNP TRIM23 ENST00000231524 human ensembl 69_37n -1 known missense c.1417 p.Q473E 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC ENSG00000113595 342 0 0.00 208 75 26.50 - - - TRIM46 0 genome.wustl.edu 37 1 155150660 155150660 + Silent SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 155150660 155150660 C G SNP TRIM46 ENST00000334634 human ensembl 69_37n +1 known silent c.1092 p.G364 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 80 0 0.00 52 10 16.13 - - - TRIO 0 genome.wustl.edu 37 5 14399162 14399162 + Missense_Mutation SNP T T C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 5 14399162 14399162 T C SNP TRIO ENST00000344204 human ensembl 69_37n +1 known missense c.4597 p.Y1533H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 306 0 0.00 193 86 30.82 - - - TSGA10IP 0 genome.wustl.edu 37 11 65714666 65714666 + RNA SNP C C A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 11 65714666 65714666 C A SNP TSGA10IP ENST00000528291 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors TSGA10IP HGNC ENSG00000175513 48 0 0.00 62 12 16.22 - - - TSNARE1 0 genome.wustl.edu 37 8 143356182 143356182 + Missense_Mutation SNP T T G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 8 143356182 143356182 T G SNP TSNARE1 ENST00000307180 human ensembl 69_37n -1 known missense c.1406 p.E469A 0.997 pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 34 0 0.00 27 6 18.18 - - - TTC37 0 genome.wustl.edu 37 5 94863730 94863730 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 5 94863730 94863730 C G SNP TTC37 ENST00000358746 human ensembl 69_37n -1 known missense c.1121 p.R374P 0.008 pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 172 0 0.00 122 40 24.69 - - - TUBAL3 0 genome.wustl.edu 37 10 5436386 5436386 + Missense_Mutation SNP G G T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 10 5436386 5436386 G T SNP TUBAL3 ENST00000380419 human ensembl 69_37n -1 known missense c.435 p.F145L 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBAL3 HGNC ENSG00000178462 90 0 0.00 112 25 18.25 - - - TXNDC8 0 genome.wustl.edu 37 9 113065819 113065819 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 9 113065819 113065819 C G SNP TXNDC8 ENST00000374511 human ensembl 69_37n -1 known missense c.366 p.K122N 1.000 NULL pfam_Thioredoxin_domain - no_errors TXNDC8 HGNC ENSG00000204193 96 0 0.00 76 30 28.30 - - - UBR4 0 genome.wustl.edu 37 1 19407923 19407923 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 19407923 19407923 C G SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.15153 p.W5051C 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 194 0 0.00 96 33 25.58 - - - UPB1 0 genome.wustl.edu 37 22 24919738 24919738 + Silent SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 22 24919738 24919738 C T SNP UPB1 ENST00000326010 human ensembl 69_37n +1 known silent c.1068 p.F356 1.000 superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors UPB1 HGNC ENSG00000100024 218 0 0.00 75 39 34.21 - - - UTRN 0 genome.wustl.edu 37 6 144761487 144761487 + Splice_Site SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 6 144761487 144761487 G C SNP UTRN ENST00000367545 human ensembl 69_37n +1 known splice_site c.1393-1 e12-1 1.000 - - - no_errors UTRN HGNC ENSG00000152818 348 0 0.00 281 69 19.71 - - - UVRAG 0 genome.wustl.edu 37 11 75590926 75590926 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 11 75590926 75590926 C T SNP UVRAG ENST00000356136 human ensembl 69_37n +1 known missense c.274 p.P92S 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors UVRAG HGNC ENSG00000198382 363 0 0.00 275 51 15.64 - - - WDR17 0 genome.wustl.edu 37 4 177049888 177049888 + Splice_Site SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 4 177049888 177049888 G C SNP WDR17 ENST00000280190 human ensembl 69_37n +1 known splice_site c.863-1 e6-1 1.000 - - - no_errors WDR17 HGNC ENSG00000150627 180 0 0.00 120 53 30.64 - - - WDR46 0 genome.wustl.edu 37 6 33247580 33247580 + Silent SNP G G A TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 6 33247580 33247580 G A SNP WDR46 ENST00000374617 human ensembl 69_37n -1 known silent c.1581 p.I527 0.999 NULL pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR46 HGNC ENSG00000227057 163 0 0.00 101 34 25.19 - - - XIRP1 0 genome.wustl.edu 37 3 39228203 39228203 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 3 39228203 39228203 G C SNP XIRP1 ENST00000340369 human ensembl 69_37n -1 known missense c.2734 p.L912V 0.984 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 56 0 0.00 24 12 33.33 - - - ZMYM4 0 genome.wustl.edu 37 1 35873661 35873661 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 1 35873661 35873661 G C SNP ZMYM4 ENST00000314607 human ensembl 69_37n +1 known missense c.3849 p.L1283F 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH - no_errors ZMYM4 HGNC ENSG00000146463 323 0 0.00 258 68 20.86 - - - ZNF318 0 genome.wustl.edu 37 6 43306894 43306894 + Silent SNP A A C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 6 43306894 43306894 A C SNP ZNF318 ENST00000361428 human ensembl 69_37n -1 known silent c.4842 p.S1614 0.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 321 0 0.00 237 59 19.93 - - - ZNF681 0 genome.wustl.edu 37 19 23926992 23926992 + Missense_Mutation SNP C C G TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 19 23926992 23926992 C G SNP ZNF681 ENST00000402377 human ensembl 69_37n -1 known missense c.1360 p.E454Q 0.828 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 ZNF681 HGNC ENSG00000196172 157 0 0.00 99 59 37.34 - - - ZNF75D 0 genome.wustl.edu 37 X 134427939 134427939 + Missense_Mutation SNP A A C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 757c8a2d-90cf-4dab-a4dd-45f3cbdeaeeb deb6d361-2e35-4b88-8f3b-db1382e05f18 X 134427939 134427939 A C SNP ZNF75D ENST00000370766 human ensembl 69_37n -1 known missense c.128 p.L43R 0.007 superfamily_Retrov_capsid_C 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 ZNF75D HGNC ENSG00000186376 105 0 0.00 74 24 24.49 - - -