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 ABCB4 0 genome.wustl.edu 37 7 87035650 87035650 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 7 87035650 87035650 G A SNP ABCB4 ENST00000265723 human ensembl 69_37n -1 known missense c.3461 p.A1154V 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ENSG00000005471 77 0 0.00 53 7 11.67 - - - ABCD1 0 genome.wustl.edu 37 X 152994737 152994737 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb X 152994737 152994737 C G SNP ABCD1 ENST00000218104 human ensembl 69_37n +1 known missense c.951 p.I317M 0.990 pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 65 0 0.00 71 14 16.47 - - - ACR 0 genome.wustl.edu 37 22 51177892 51177892 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 22 51177892 51177892 G A SNP ACR ENST00000216139 human ensembl 69_37n +1 known missense c.271 p.V91I 0.002 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ACR HGNC ENSG00000100312 45 0 0.00 57 11 16.18 - - - AKNA 0 genome.wustl.edu 37 9 117099426 117099426 + Missense_Mutation SNP C C T TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 9 117099426 117099426 C T SNP AKNA ENST00000307564 human ensembl 69_37n -1 known missense c.4228 p.E1410K 0.008 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 36 0 0.00 33 4 10.81 - - - ANKFN1 0 genome.wustl.edu 37 17 54403701 54403701 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 17 54403701 54403701 C G SNP ANKFN1 ENST00000318698 human ensembl 69_37n +1 known missense c.182 p.S61W 0.974 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 75 0 0.00 49 13 20.97 - - - ANKRD12 0 genome.wustl.edu 37 18 9211737 9211737 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 18 9211737 9211737 G A SNP ANKRD12 ENST00000262126 human ensembl 69_37n +1 known missense c.607 p.E203K 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,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD12 HGNC ENSG00000101745 83 0 0.00 58 8 12.12 - - - APBB1IP 0 genome.wustl.edu 37 10 26851337 26851337 + Silent SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 10 26851337 26851337 G A SNP APBB1IP ENST00000376236 human ensembl 69_37n +1 known silent c.1452 p.Q484 0.004 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 53 0 0.00 44 6 12.00 - - - APLN 0 genome.wustl.edu 37 X 128782606 128782606 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb X 128782606 128782606 G A SNP APLN ENST00000427399 human ensembl 69_37n -1 known missense c.119 p.S40F 1.000 NULL NULL - no_errors APLN HGNC ENSG00000171388 29 0 0.00 16 5 23.81 - - - ARHGEF18 0 genome.wustl.edu 37 19 7509313 7509313 + Silent SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 19 7509313 7509313 G A SNP ARHGEF18 ENST00000359920 human ensembl 69_37n +1 known silent c.1020 p.Q340 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 48 0 0.00 49 8 14.04 - - - BCKDK 0 genome.wustl.edu 37 16 31123511 31123511 + Silent SNP C C A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 16 31123511 31123511 C A SNP BCKDK ENST00000219794 human ensembl 69_37n +1 known silent c.1164 p.S388 1.000 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C - no_errors BCKDK HGNC ENSG00000103507 45 0 0.00 38 9 19.15 - - - BLVRA 0 genome.wustl.edu 37 7 43843326 43843326 + Missense_Mutation SNP C C A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 7 43843326 43843326 C A SNP BLVRA ENST00000265523 human ensembl 69_37n +1 known missense c.512 p.S171Y 1.000 pfam_Biliverdin_Rdtase_cat,pirsf_Biliverdin_Rdtase_A pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A - no_errors BLVRA HGNC ENSG00000106605 41 0 0.00 43 6 12.24 - - - BPIFA2 0 genome.wustl.edu 37 20 31760835 31760835 + Silent SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 20 31760835 31760835 G A SNP BPIFA2 ENST00000253362 human ensembl 69_37n +1 known silent c.255 p.L85 0.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA2 HGNC ENSG00000131050 82 0 0.00 59 8 11.94 - - - BTF3 0 genome.wustl.edu 37 5 72798840 72798840 + Missense_Mutation SNP G G C TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 5 72798840 72798840 G C SNP BTF3 ENST00000380591 human ensembl 69_37n +1 known missense c.415 p.E139Q 1.000 pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors BTF3 HGNC ENSG00000145741 40 0 0.00 33 7 17.50 - - - C14orf37 0 genome.wustl.edu 37 14 58471475 58471475 + Silent SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 14 58471475 58471475 G A SNP C14orf37 ENST00000267485 human ensembl 69_37n -1 known silent c.2304 p.D768 1.000 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 65 0 0.00 49 8 14.04 - - - C17orf80 0 genome.wustl.edu 37 17 71232151 71232151 + Missense_Mutation SNP C C T TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 17 71232151 71232151 C T SNP C17orf80 ENST00000359042 human ensembl 69_37n +1 known missense c.530 p.S177L 0.514 NULL NULL - no_errors C17orf80 HGNC ENSG00000141219 39 0 0.00 39 6 13.33 - - - CDH1 0 genome.wustl.edu 37 16 68845616 68845616 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 16 68845616 68845616 G A SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known missense c.862 p.D288N 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 57 0 0.00 46 7 13.21 - - - CEP192 0 genome.wustl.edu 37 18 13049027 13049027 + Missense_Mutation SNP G G C TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 18 13049027 13049027 G C SNP CEP192 ENST00000506447 human ensembl 69_37n +1 known missense c.2237 p.R746T 0.709 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 33 0 0.00 29 5 14.71 - - - CHD6 0 genome.wustl.edu 37 20 40127968 40127968 + Missense_Mutation SNP A A C TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 20 40127968 40127968 A C SNP CHD6 ENST00000373233 human ensembl 69_37n -1 known missense c.882 p.I294M 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 81 0 0.00 41 6 12.77 - - - CLSPN 0 genome.wustl.edu 37 1 36202188 36202188 + Missense_Mutation SNP G G C TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 1 36202188 36202188 G C SNP CLSPN ENST00000318121 human ensembl 69_37n -1 known missense c.3929 p.S1310C 0.013 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 86 0 0.00 85 14 14.14 - - - CNPY4 0 genome.wustl.edu 37 7 99719923 99719923 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 7 99719923 99719923 C G SNP CNPY4 ENST00000262932 human ensembl 69_37n +1 known missense c.160 p.R54G 0.995 pfam_DUF3456 pfam_DUF3456 - no_errors CNPY4 HGNC ENSG00000166997 62 0 0.00 52 6 10.34 - - - DUOX1 0 genome.wustl.edu 37 15 45433515 45433515 + Missense_Mutation SNP G G C TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 15 45433515 45433515 G C SNP DUOX1 ENST00000321429 human ensembl 69_37n +1 known missense c.1591 p.E531Q 0.948 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 83 0 0.00 73 12 14.12 - - - EPS15L1 0 genome.wustl.edu 37 19 16548608 16548608 + Silent SNP C C T TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 19 16548608 16548608 C T SNP EPS15L1 ENST00000455140 human ensembl 69_37n -1 known silent c.282 p.L94 0.755 smart_EPS15_homology,pfscan_EPS15_homology superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 77 0 0.00 44 8 15.38 - - - FAM222B 0 genome.wustl.edu 37 17 27086726 27086726 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 17 27086726 27086726 G A SNP FAM222B ENST00000341217 human ensembl 69_37n -1 known missense c.251 p.S84L 1.000 NULL NULL - no_errors FAM222B HGNC ENSG00000173065 89 0 0.00 79 12 13.04 - - - FANCI 0 genome.wustl.edu 37 15 89836012 89836012 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 15 89836012 89836012 G A SNP FANCI ENST00000310775 human ensembl 69_37n +1 known missense c.2086 p.E696K 0.996 NULL NULL - no_errors FANCI HGNC ENSG00000140525 104 0 0.00 85 14 14.14 - - - FRMD4A 0 genome.wustl.edu 37 10 13705478 13705478 + Silent SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 10 13705478 13705478 G A SNP FRMD4A ENST00000357447 human ensembl 69_37n -1 known silent c.1635 p.L545 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 66 0 0.00 59 11 15.71 - - - GATA3 0 genome.wustl.edu 37 10 8100449 8100449 + Silent SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 10 8100449 8100449 G A SNP GATA3 ENST00000379328 human ensembl 69_37n +1 known silent c.423 p.L141 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 28 0 0.00 28 5 15.15 - - - GLI3 0 genome.wustl.edu 37 7 42065886 42065886 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 7 42065886 42065886 G A SNP GLI3 ENST00000395925 human ensembl 69_37n -1 known missense c.1154 p.P385L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 154 0 0.00 119 21 15.00 - - - GPATCH1 0 genome.wustl.edu 37 19 33587206 33587206 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 19 33587206 33587206 C G SNP GPATCH1 ENST00000170564 human ensembl 69_37n +1 known missense c.706 p.L236V 1.000 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 56 0 0.00 71 11 13.25 - - - GREM2 0 genome.wustl.edu 37 1 240656380 240656380 + Silent SNP G G C TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 1 240656380 240656380 G C SNP GREM2 ENST00000318160 human ensembl 69_37n -1 known silent c.396 p.L132 0.083 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 29 0 0.00 27 4 12.90 - - - GRIN2C 0 genome.wustl.edu 37 17 72840607 72840607 + Silent SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 17 72840607 72840607 G A SNP GRIN2C ENST00000293190 human ensembl 69_37n -1 known silent c.2391 p.I797 1.000 pfam_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 96 0 0.00 74 12 13.79 - - - HCCS 0 genome.wustl.edu 37 X 11136674 11136674 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb X 11136674 11136674 G A SNP HCCS ENST00000321143 human ensembl 69_37n +1 known missense c.455 p.R152K 0.002 pfam_Cyt_C/C1_haem_lyase pfam_Cyt_C/C1_haem_lyase - no_errors HCCS HGNC ENSG00000004961 100 0 0.00 79 17 17.71 - - - HMG20B 0 genome.wustl.edu 37 19 3574548 3574548 + Missense_Mutation SNP C C T TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 19 3574548 3574548 C T SNP HMG20B ENST00000435022 human ensembl 69_37n +1 known missense c.328 p.R110C 0.049 NULL NULL - no_errors HMG20B HGNC ENSG00000064961 12 0 0.00 9 4 30.77 - - - IBTK 0 genome.wustl.edu 37 6 82923947 82923947 + Missense_Mutation SNP C C T TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 6 82923947 82923947 C T SNP IBTK ENST00000306270 human ensembl 69_37n -1 known missense c.2201 p.S734N 1.000 smart_BTB/POZ-like pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 61 0 0.00 58 9 13.43 - - - IFNA16 0 genome.wustl.edu 37 9 21217072 21217072 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 9 21217072 21217072 G A SNP IFNA16 ENST00000380216 human ensembl 69_37n -1 known missense c.233 p.S78F 0.014 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA16 HGNC ENSG00000147885 100 0 0.00 57 18 24.00 - - - IGFALS 0 genome.wustl.edu 37 16 1841614 1841614 + Nonsense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 16 1841614 1841614 G A SNP IGFALS ENST00000415638 human ensembl 69_37n -1 known nonsense c.919 p.R307* 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 51 0 0.00 30 6 16.67 - - - IL22RA2 0 genome.wustl.edu 37 6 137476183 137476183 + Nonsense_Mutation SNP C C A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 6 137476183 137476183 C A SNP IL22RA2 ENST00000296980 human ensembl 69_37n -1 known nonsense c.367 p.E123* 1.000 superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL22RA2 HGNC ENSG00000164485 75 0 0.00 62 7 10.14 - - - IQSEC3 0 genome.wustl.edu 37 12 275032 275032 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 12 275032 275032 G A SNP IQSEC3 ENST00000326261 human ensembl 69_37n +1 known missense c.2947 p.E983K 1.000 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC3 HGNC ENSG00000120645 66 0 0.00 54 8 12.90 - - - KHDRBS1 0 genome.wustl.edu 37 1 32495999 32495999 + Silent SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 1 32495999 32495999 G A SNP KHDRBS1 ENST00000327300 human ensembl 69_37n +1 known silent c.483 p.L161 1.000 pfam_KH_dom_type_1,smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS1 HGNC ENSG00000121774 56 0 0.00 43 6 12.24 - - - KIAA0146 0 genome.wustl.edu 37 8 48586495 48586495 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 8 48586495 48586495 C G SNP KIAA0146 ENST00000519401 human ensembl 69_37n +1 putative missense c.722 p.P241R 0.999 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIAA0146 HGNC ENSG00000164808 45 0 0.00 28 7 20.00 - - - KIF4A 0 genome.wustl.edu 37 X 69623811 69623811 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb X 69623811 69623811 G A SNP KIF4A ENST00000374403 human ensembl 69_37n +1 known missense c.2717 p.R906Q 0.997 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 64 0 0.00 52 10 16.13 - - - LEKR1 0 genome.wustl.edu 37 3 156763253 156763253 + Missense_Mutation SNP C C T TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 3 156763253 156763253 C T SNP LEKR1 ENST00000356539 human ensembl 69_37n +1 known missense c.1793 p.S598L 0.291 NULL superfamily_Ribosomal_L29 - no_errors LEKR1 HGNC ENSG00000178110 50 0 0.00 38 5 11.63 - - - LIG1 0 genome.wustl.edu 37 19 48640791 48640791 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 19 48640791 48640791 G A SNP LIG1 ENST00000542460 human ensembl 69_37n -1 known missense c.1217 p.S406L 0.838 NULL pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N - no_errors LIG1 HGNC ENSG00000105486 33 0 0.00 33 8 19.51 - - - MAMDC2 0 genome.wustl.edu 37 9 72746489 72746489 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 9 72746489 72746489 G A SNP MAMDC2 ENST00000377182 human ensembl 69_37n +1 known missense c.955 p.D319N 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 180 0 0.00 99 12 10.71 - - - MATN2 0 genome.wustl.edu 37 8 99006790 99006790 + Missense_Mutation SNP G G C TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 8 99006790 99006790 G C SNP MATN2 ENST00000518154 human ensembl 69_37n +1 novel missense c.511 p.E171Q 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWF_A,pfscan_EG-like_dom,pfscan_VWF_A - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MATN2 HGNC ENSG00000132561 71 0 0.00 51 11 17.74 - - - MCCC2 0 genome.wustl.edu 37 5 70930839 70930839 + Silent SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 5 70930839 70930839 G A SNP MCCC2 ENST00000340941 human ensembl 69_37n +1 known silent c.873 p.V291 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors MCCC2 HGNC ENSG00000131844 115 0 0.00 78 11 12.36 - - - MIA3 0 genome.wustl.edu 37 1 222827736 222827736 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 1 222827736 222827736 G A SNP MIA3 ENST00000354906 human ensembl 69_37n +1 known missense c.2953 p.D985N 0.989 NULL NULL - no_start_codon:pseudogene:no_stop_codon MIA3 HGNC ENSG00000154305 150 0 0.00 105 14 11.67 - - - MLH3 0 genome.wustl.edu 37 14 75515438 75515438 + Silent SNP T T G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 14 75515438 75515438 T G SNP MLH3 ENST00000355774 human ensembl 69_37n -1 known silent c.921 p.V307 0.008 pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold 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 36 0 0.00 38 5 11.63 - - - MURC 0 genome.wustl.edu 37 9 103348411 103348411 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 9 103348411 103348411 C G SNP MURC ENST00000307584 human ensembl 69_37n +1 known missense c.773 p.S258C 0.998 NULL NULL - no_errors MURC HGNC ENSG00000170681 41 0 0.00 36 6 14.29 - - - MYCBP2 0 genome.wustl.edu 37 13 77667317 77667317 + Missense_Mutation SNP C C T TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 13 77667317 77667317 C T SNP MYCBP2 ENST00000407578 human ensembl 69_37n -1 known missense c.10350 p.M3450I 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 97 0 0.00 46 7 13.21 - - - MYH11 0 genome.wustl.edu 37 16 15931974 15931974 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 16 15931974 15931974 C G SNP MYH11 ENST00000396324 human ensembl 69_37n -1 known missense c.136 p.E46Q 1.000 pfam_Myosin_N pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 136 0 0.00 130 15 10.34 - - - MYH4 0 genome.wustl.edu 37 17 10358364 10358364 + Missense_Mutation SNP G G C TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 17 10358364 10358364 G C SNP MYH4 ENST00000255381 human ensembl 69_37n -1 known missense c.2329 p.L777V 1.000 smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 53 0 0.00 49 8 14.04 - - - MYO5B 0 genome.wustl.edu 37 18 47563360 47563360 + Missense_Mutation SNP G G C TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 18 47563360 47563360 G C SNP MYO5B ENST00000285039 human ensembl 69_37n -1 known missense c.315 p.I105M 0.925 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,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 MYO5B HGNC ENSG00000167306 81 0 0.00 49 6 10.91 - - - MYO6 0 genome.wustl.edu 37 6 76566933 76566933 + Missense_Mutation SNP C C T TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 6 76566933 76566933 C T SNP MYO6 ENST00000369981 human ensembl 69_37n +1 known missense c.1343 p.S448L 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 151 0 0.00 121 18 12.95 - - - NEB 0 genome.wustl.edu 37 2 152474912 152474912 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 2 152474912 152474912 C G SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.10953 p.K3651N 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 80 0 0.00 48 13 21.31 - - - NRL 0 genome.wustl.edu 37 14 24551994 24551994 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 14 24551994 24551994 C G SNP NRL ENST00000396997 human ensembl 69_37n -1 known missense c.64 p.E22Q 1.000 NULL pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NRL HGNC ENSG00000129535 42 0 0.00 29 4 12.12 - - - NT5C3 0 genome.wustl.edu 37 7 33066431 33066431 + Nonsense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 7 33066431 33066431 G A SNP NT5C3 ENST00000242210 human ensembl 69_37n -1 known nonsense c.250 p.Q84* 1.000 superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu - no_errors NT5C3 HGNC ENSG00000122643 82 0 0.00 81 10 10.99 - - - OR13C9 0 genome.wustl.edu 37 9 107380084 107380084 + Silent SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 9 107380084 107380084 G A SNP OR13C9 ENST00000259362 human ensembl 69_37n -1 known silent c.402 p.I134 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 OR13C9 HGNC ENSG00000136839 101 0 0.00 56 9 13.85 - - - OR2J2 0 genome.wustl.edu 37 6 29142120 29142120 + Missense_Mutation SNP G G C TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 6 29142120 29142120 G C SNP OR2J2 ENST00000377167 human ensembl 69_37n +1 known missense c.708 p.Q236H 0.211 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 OR2J2 HGNC ENSG00000204700 64 0 0.00 35 7 16.67 - - - OR4A15 0 genome.wustl.edu 37 11 55136013 55136013 + Silent SNP C C T TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 11 55136013 55136013 C T SNP OR4A15 ENST00000314706 human ensembl 69_37n +1 known silent c.654 p.T218 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 OR4A15 HGNC ENSG00000181958 120 0 0.00 35 11 23.91 - - - PCDH12 0 genome.wustl.edu 37 5 141336485 141336485 + Missense_Mutation SNP T T A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 5 141336485 141336485 T A SNP PCDH12 ENST00000231484 human ensembl 69_37n -1 known missense c.932 p.D311V 1.000 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 PCDH12 HGNC ENSG00000113555 62 0 0.00 40 17 29.82 - - - PCDHA8 0 genome.wustl.edu 37 5 140220923 140220923 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 5 140220923 140220923 G A SNP PCDHA8 ENST00000531613 human ensembl 69_37n +1 known missense c.17 p.R6Q 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 48 0 0.00 54 8 12.90 - - - PCDHA8 0 genome.wustl.edu 37 5 140222831 140222831 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 5 140222831 140222831 C G SNP PCDHA8 ENST00000531613 human ensembl 69_37n +1 known missense c.1925 p.S642C 0.000 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 75 0 0.00 51 8 13.56 - - - PCDHGB3 0 genome.wustl.edu 37 5 140752311 140752311 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 5 140752311 140752311 G A SNP PCDHGB3 ENST00000576222 human ensembl 69_37n +1 known missense c.2350 p.E784K 0.026 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 53 0 0.00 64 9 12.33 - - - PIK3C3 0 genome.wustl.edu 37 18 39576617 39576617 + Missense_Mutation SNP C C T TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 18 39576617 39576617 C T SNP PIK3C3 ENST00000262039 human ensembl 69_37n +1 known missense c.907 p.P303S 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 63 0 0.00 43 8 15.69 - - - PIWIL1 0 genome.wustl.edu 37 12 130834421 130834421 + Missense_Mutation SNP G G C TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 12 130834421 130834421 G C SNP PIWIL1 ENST00000245255 human ensembl 69_37n +1 known missense c.953 p.R318T 1.000 pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 54 0 0.00 43 7 13.73 - - - PLIN5 0 genome.wustl.edu 37 19 4525794 4525794 + Nonsense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 19 4525794 4525794 G A SNP PLIN5 ENST00000381848 human ensembl 69_37n -1 known nonsense c.571 p.Q191* 1.000 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN5 HGNC ENSG00000214456 34 0 0.00 35 5 12.20 - - - PPL 0 genome.wustl.edu 37 16 4987026 4987026 + Silent SNP C C T TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 16 4987026 4987026 C T SNP PPL ENST00000345988 human ensembl 69_37n -1 known silent c.21 p.K7 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 29 0 0.00 37 10 21.28 - - - PRPF8 0 genome.wustl.edu 37 17 1561836 1561836 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 17 1561836 1561836 C G SNP PRPF8 ENST00000304992 human ensembl 69_37n -1 known missense c.5360 p.R1787T 1.000 pfam_PRP8_domainIV 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 81 0 0.00 65 12 15.58 - - - PTPN9 0 genome.wustl.edu 37 15 75762184 75762184 + Missense_Mutation SNP A A C TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 15 75762184 75762184 A C SNP PTPN9 ENST00000306726 human ensembl 69_37n -1 known missense c.1516 p.C506G 0.098 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran - no_errors PTPN9 HGNC ENSG00000169410 48 0 0.00 53 9 14.52 - - - RBFOX3 0 genome.wustl.edu 37 17 77111642 77111642 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 17 77111642 77111642 C G SNP RBFOX3 ENST00000415831 human ensembl 69_37n -1 known missense c.156 p.Q52H 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX3 HGNC ENSG00000167281 92 0 0.00 90 11 10.89 - - - RBL1 0 genome.wustl.edu 37 20 35693877 35693877 + Splice_Site SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 20 35693877 35693877 C G SNP RBL1 ENST00000373664 human ensembl 69_37n -1 known splice_site c.847-1 e7-1 1.000 - - - no_errors RBL1 HGNC ENSG00000080839 58 0 0.00 46 8 14.81 - - - RHBDF2 0 genome.wustl.edu 37 17 74470500 74470500 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 17 74470500 74470500 C G SNP RHBDF2 ENST00000313080 human ensembl 69_37n -1 known missense c.1506 p.Q502H 1.000 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 45 0 0.00 41 10 19.61 - - - RNF213 0 genome.wustl.edu 37 17 78263574 78263574 + Silent SNP T T G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 17 78263574 78263574 T G SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known silent c.1050 p.A350 0.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 92 0 0.00 84 19 18.45 - - - SACS 0 genome.wustl.edu 37 13 23910500 23910500 + Silent SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 13 23910500 23910500 G A SNP SACS ENST00000382292 human ensembl 69_37n -1 known silent c.7515 p.A2505 0.959 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 75 0 0.00 49 7 12.50 - - - SART1 0 genome.wustl.edu 37 11 65744186 65744186 + Silent SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 11 65744186 65744186 G A SNP SART1 ENST00000312397 human ensembl 69_37n +1 known silent c.1806 p.E602 1.000 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 39 0 0.00 26 4 13.33 - - - SLCO2A1 0 genome.wustl.edu 37 3 133654634 133654634 + Missense_Mutation SNP C C T TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 3 133654634 133654634 C T SNP SLCO2A1 ENST00000310926 human ensembl 69_37n -1 known missense c.1798 p.D600N 0.031 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 70 0 0.00 52 6 10.34 - - - SMARCC2 0 genome.wustl.edu 37 12 56575305 56575305 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 12 56575305 56575305 G A SNP SMARCC2 ENST00000267064 human ensembl 69_37n -1 known missense c.917 p.S306L 1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 58 0 0.00 45 6 11.76 - - - SPG11 0 genome.wustl.edu 37 15 44925744 44925744 + Missense_Mutation SNP G G C TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 15 44925744 44925744 G C SNP SPG11 ENST00000261866 human ensembl 69_37n -1 known missense c.1694 p.S565C 0.260 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 84 0 0.00 79 13 14.13 - - - SS18L1 0 genome.wustl.edu 37 20 60733751 60733751 + Silent SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 20 60733751 60733751 G A SNP SS18L1 ENST00000331758 human ensembl 69_37n +1 known silent c.93 p.L31 0.976 pfam_SSXT pfam_SSXT - no_errors SS18L1 HGNC ENSG00000184402 30 0 0.00 26 6 18.75 - - - ST3GAL3 0 genome.wustl.edu 37 1 44365326 44365326 + Missense_Mutation SNP C C A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 1 44365326 44365326 C A SNP ST3GAL3 ENST00000262915 human ensembl 69_37n +1 known missense c.878 p.S293Y 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL3 HGNC ENSG00000126091 81 0 0.00 59 8 11.94 - - - STK17B 0 genome.wustl.edu 37 2 197010664 197010664 + Nonsense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 2 197010664 197010664 G A SNP STK17B ENST00000263955 human ensembl 69_37n -1 known nonsense c.451 p.Q151* 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 STK17B HGNC ENSG00000081320 34 0 0.00 40 9 18.37 - - - STX16-NPEPL1 0 genome.wustl.edu 37 20 57246341 57246341 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 20 57246341 57246341 G A SNP STX16-NPEPL1 ENST00000530122 human ensembl 69_37n +1 known missense c.780 p.M260I 1.000 pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX16-NPEPL1 HGNC ENSG00000254995 54 0 0.00 45 5 10.00 - - - SYNM 0 genome.wustl.edu 37 15 99671148 99671148 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 15 99671148 99671148 C G SNP SYNM ENST00000336292 human ensembl 69_37n +1 known missense c.2580 p.I860M 1.000 NULL pfam_F - no_errors SYNM HGNC ENSG00000182253 77 0 0.00 43 5 10.42 - - - TAS2R1 0 genome.wustl.edu 37 5 9629959 9629959 + Missense_Mutation SNP G G C TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 5 9629959 9629959 G C SNP TAS2R1 ENST00000382492 human ensembl 69_37n -1 known missense c.186 p.I62M 0.006 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R1 HGNC ENSG00000169777 27 0 0.00 21 8 27.59 - - - TENC1 0 genome.wustl.edu 37 12 53451451 53451451 + Missense_Mutation SNP G G C TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 12 53451451 53451451 G C SNP TENC1 ENST00000314276 human ensembl 69_37n +1 known missense c.976 p.E326Q 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 45 0 0.00 35 6 14.63 - - - TES 0 genome.wustl.edu 37 7 115890508 115890508 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 7 115890508 115890508 G A SNP TES ENST00000393484 human ensembl 69_37n +1 putative missense c.20 p.G7E 0.533 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TES HGNC ENSG00000135269 54 0 0.00 47 10 17.54 - - - TGS1 0 genome.wustl.edu 37 8 56711671 56711671 + Nonsense_Mutation SNP G G T TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 8 56711671 56711671 G T SNP TGS1 ENST00000260129 human ensembl 69_37n +1 known nonsense c.1741 p.E581* 0.000 NULL pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 49 0 0.00 54 6 10.00 - - - WDR62 0 genome.wustl.edu 37 19 36584985 36584985 + Missense_Mutation SNP G G A TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 19 36584985 36584985 G A SNP WDR62 ENST00000401500 human ensembl 69_37n +1 known missense c.2386 p.E796K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 86 0 0.00 83 17 17.00 - - - WWP1 0 genome.wustl.edu 37 8 87454969 87454969 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 8 87454969 87454969 C G SNP WWP1 ENST00000265428 human ensembl 69_37n +1 known missense c.1960 p.L654V 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT 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 WWP1 HGNC ENSG00000123124 90 0 0.00 80 10 10.99 - - - ZNF286A 0 genome.wustl.edu 37 17 15619791 15619791 + Silent SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 17 15619791 15619791 C G SNP ZNF286A ENST00000413242 human ensembl 69_37n +1 known silent c.753 p.L251 0.561 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 AC005324.8-001 Clone_based_vega_gene ENSG00000255104 35 0 0.00 39 6 13.33 - - - ZNF561 0 genome.wustl.edu 37 19 9721637 9721637 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 19 9721637 9721637 C G SNP ZNF561 ENST00000302851 human ensembl 69_37n -1 known missense c.700 p.V234L 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 ZNF561 HGNC ENSG00000171469 71 0 0.00 38 5 11.63 - - - ZNF831 0 genome.wustl.edu 37 20 57829085 57829085 + Missense_Mutation SNP C C G TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb 20 57829085 57829085 C G SNP ZNF831 ENST00000371030 human ensembl 69_37n +1 novel missense c.4321 p.L1441V 0.049 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 30 0 0.00 32 5 13.51 - - - ZXDB 0 genome.wustl.edu 37 X 57619607 57619607 + Nonsense_Mutation SNP C C T TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc563803-d0e6-4b04-86b1-ff00ae342a12 c247eeab-2b71-4019-a24b-d4648fa38deb X 57619607 57619607 C T SNP ZXDB ENST00000374888 human ensembl 69_37n +1 known nonsense c.1126 p.Q376* 0.904 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC ENSG00000198455 116 0 0.00 105 12 10.26 - - -