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 ABCB8 0 genome.wustl.edu 37 7 150732799 150732799 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 7 150732799 150732799 C T SNP ABCB8 ENST00000491920 human ensembl 69_37n +1 putative missense c.94 p.P32S 0.999 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region ABCB8 HGNC ENSG00000197150 40 0 0.00 31 5 13.89 - - - ABCC10 0 genome.wustl.edu 37 6 43403563 43403563 + Silent SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 6 43403563 43403563 C G SNP ABCC10 ENST00000372530 human ensembl 69_37n +1 known silent c.1683 p.L561 0.999 superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ENSG00000124574 157 0 0.00 102 20 16.39 - - - AHNAK 0 genome.wustl.edu 37 11 62297871 62297871 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 62297871 62297871 C G SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.4018 p.D1340H 0.950 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 364 0 0.00 243 44 15.33 - - - AHNAK 0 genome.wustl.edu 37 11 62297991 62297991 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 62297991 62297991 C T SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.3898 p.E1300K 0.998 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 256 0 0.00 170 26 13.27 - - - AIFM2 0 genome.wustl.edu 37 10 71874694 71874694 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 10 71874694 71874694 G C SNP AIFM2 ENST00000307864 human ensembl 69_37n -1 known missense c.952 p.L318V 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2,prints_Rng_hydrolase-like - no_errors AIFM2 HGNC ENSG00000042286 69 0 0.00 40 5 11.11 - - - AKR1C2 0 genome.wustl.edu 37 10 5038048 5038048 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 10 5038048 5038048 G C SNP AKR1C2 ENST00000380753 human ensembl 69_37n -1 known missense c.580 p.H194D 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C2 HGNC ENSG00000151632 127 0 0.00 94 16 14.55 - - - ANKRD11 0 genome.wustl.edu 37 16 89351969 89351969 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 16 89351969 89351969 G A SNP ANKRD11 ENST00000301030 human ensembl 69_37n -1 known silent c.981 p.L327 0.632 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 228 1 0.43 149 26 14.86 - - - ANKRD26 0 genome.wustl.edu 37 10 27342293 27342293 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 10 27342293 27342293 C G SNP ANKRD26 ENST00000436985 human ensembl 69_37n -1 known missense c.1639 p.E547Q 0.011 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 308 0 0.00 270 37 12.05 - - - AP2B1 0 genome.wustl.edu 37 17 33984663 33984663 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 17 33984663 33984663 C T SNP AP2B1 ENST00000312678 human ensembl 69_37n +1 known silent c.1842 p.N614 1.000 pirsf_AP_complex_bsu pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu - no_errors AP2B1 HGNC ENSG00000006125 137 0 0.00 118 15 11.28 - - - AP3B1 0 genome.wustl.edu 37 5 77590302 77590302 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 5 77590302 77590302 G A SNP AP3B1 ENST00000255194 human ensembl 69_37n -1 known silent c.102 p.F34 0.998 pirsf_AP3_complex_bsu pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu - no_errors AP3B1 HGNC ENSG00000132842 109 0 0.00 73 13 15.12 - - - ARHGAP29 0 genome.wustl.edu 37 1 94650459 94650459 + Nonsense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 94650459 94650459 G C SNP ARHGAP29 ENST00000260526 human ensembl 69_37n -1 known nonsense c.2078 p.S693* 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 167 0 0.00 91 16 14.95 - - - ARHGAP31 0 genome.wustl.edu 37 3 119101244 119101244 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 3 119101244 119101244 C T SNP ARHGAP31 ENST00000264245 human ensembl 69_37n +1 known silent c.537 p.L179 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 113 0 0.00 64 12 15.79 - - - ARHGEF7 0 genome.wustl.edu 37 13 111930018 111930018 + Nonsense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 13 111930018 111930018 C T SNP ARHGEF7 ENST00000375741 human ensembl 69_37n +1 known nonsense c.1567 p.Q523* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,prints_SH3_domain,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF7 HGNC ENSG00000102606 344 0 0.00 222 31 12.25 - - - ARMC10 0 genome.wustl.edu 37 7 102738803 102738803 + Nonsense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 7 102738803 102738803 C T SNP ARMC10 ENST00000323716 human ensembl 69_37n +1 known nonsense c.835 p.R279* 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC10 HGNC ENSG00000170632 142 0 0.00 88 10 10.20 - - - ARPC1A 0 genome.wustl.edu 37 7 98951679 98951679 + Silent SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 7 98951679 98951679 G C SNP ARPC1A ENST00000262942 human ensembl 69_37n +1 known silent c.648 p.G216 0.977 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1A HGNC ENSG00000241685 109 1 0.90 80 13 13.98 - - - ASAP3 0 genome.wustl.edu 37 1 23768756 23768756 + Silent SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 23768756 23768756 G C SNP ASAP3 ENST00000336689 human ensembl 69_37n -1 known silent c.594 p.L198 0.972 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,prints_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 226 0 0.00 160 20 11.11 - - - ASXL3 0 genome.wustl.edu 37 18 31226305 31226305 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 18 31226305 31226305 G A SNP ASXL3 ENST00000269197 human ensembl 69_37n +1 known missense c.343 p.E115K 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 220 0 0.00 128 23 15.23 - - - ATM 0 genome.wustl.edu 37 11 108200998 108200998 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 108200998 108200998 G A SNP ATM ENST00000278616 human ensembl 69_37n +1 known silent c.7365 p.L2455 1.000 pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 187 1 0.53 125 24 16.11 - - - ATM 0 genome.wustl.edu 37 11 108206578 108206578 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 108206578 108206578 G A SNP ATM ENST00000278616 human ensembl 69_37n +1 known missense c.8158 p.D2720N 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 146 1 0.67 80 13 13.98 - - - ATRN 0 genome.wustl.edu 37 20 3540081 3540081 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 20 3540081 3540081 C T SNP ATRN ENST00000262919 human ensembl 69_37n +1 known missense c.1154 p.S385F 0.998 NULL pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EGF-like,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 339 0 0.00 267 33 11.00 - - - BMI1 0 genome.wustl.edu 37 10 22616543 22616543 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 10 22616543 22616543 G C SNP BMI1 ENST00000376663 human ensembl 69_37n +1 known missense c.229 p.D77H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors BMI1 HGNC ENSG00000168283 87 0 0.00 75 10 11.76 - - - C11orf30 0 genome.wustl.edu 37 11 76255449 76255449 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 76255449 76255449 G C SNP C11orf30 ENST00000334736 human ensembl 69_37n +1 known missense c.2856 p.Q952H 1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 51 0 0.00 45 9 16.67 - - - C12orf55 0 genome.wustl.edu 37 12 97093812 97093812 + Missense_Mutation SNP T T C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 12 97093812 97093812 T C SNP C12orf55 ENST00000342887 human ensembl 69_37n +1 known missense c.1690 p.Y564H 0.002 NULL NULL - no_errors C12orf55 HGNC ENSG00000188596 132 0 0.00 93 11 10.58 - - - C14orf37 0 genome.wustl.edu 37 14 58604848 58604848 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 14 58604848 58604848 G A SNP C14orf37 ENST00000267485 human ensembl 69_37n -1 known missense c.1229 p.S410F 0.002 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 99 0 0.00 77 12 13.48 - - - C17orf77 0 genome.wustl.edu 37 17 72588661 72588661 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 17 72588661 72588661 G A SNP C17orf77 ENST00000328023 human ensembl 69_37n +1 known missense c.476 p.G159E 0.005 NULL NULL - no_errors C17orf77 HGNC ENSG00000182352 145 0 0.00 76 13 14.61 - - - C1orf177 0 genome.wustl.edu 37 1 55277548 55277548 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 55277548 55277548 C G SNP C1orf177 ENST00000371273 human ensembl 69_37n +1 known missense c.562 p.H188D 0.978 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 70 0 0.00 62 7 10.14 - - - C1orf222 0 genome.wustl.edu 37 1 1855219 1855219 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 1855219 1855219 C G SNP C1orf222 ENST00000493964 human ensembl 69_37n -1 putative missense c.2233 p.E745Q 0.201 superfamily_PapD-like superfamily_PapD-like - no_start_codon C1orf222 HGNC ENSG00000142609 175 0 0.00 137 28 16.87 - - - C3orf20 0 genome.wustl.edu 37 3 14725873 14725873 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 3 14725873 14725873 C T SNP C3orf20 ENST00000253697 human ensembl 69_37n +1 known silent c.609 p.S203 0.000 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 114 0 0.00 96 17 15.04 - - - CACNA2D2 0 genome.wustl.edu 37 3 50413289 50413289 + Missense_Mutation SNP C C A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 3 50413289 50413289 C A SNP CACNA2D2 ENST00000435965 human ensembl 69_37n -1 known missense c.1796 p.G599V 1.000 pfam_VDCC_a2/dsu pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 61 0 0.00 51 6 10.53 - - - CCDC125 0 genome.wustl.edu 37 5 68581193 68581193 + Nonsense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 5 68581193 68581193 G A SNP CCDC125 ENST00000396496 human ensembl 69_37n -1 known nonsense c.1201 p.Q401* 0.999 NULL NULL - no_errors CCDC125 HGNC ENSG00000183323 143 0 0.00 107 12 10.08 - - - CCDC168 0 genome.wustl.edu 37 13 103385158 103385158 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 13 103385158 103385158 C G SNP CCDC168 ENST00000322527 human ensembl 69_37n -1 known missense c.4002 p.Q1334H 0.013 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 207 0 0.00 130 21 13.91 - - - CCDC65 0 genome.wustl.edu 37 12 49298848 49298848 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 12 49298848 49298848 C T SNP CCDC65 ENST00000266984 human ensembl 69_37n +1 known silent c.252 p.L84 1.000 NULL NULL - no_errors CCDC65 HGNC ENSG00000139537 137 0 0.00 76 17 18.28 - - - CCT8 0 genome.wustl.edu 37 21 30434457 30434457 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 21 30434457 30434457 G C SNP CCT8 ENST00000286788 human ensembl 69_37n -1 known missense c.1204 p.L402V 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_theta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta - no_errors CCT8 HGNC ENSG00000156261 275 0 0.00 177 22 11.06 - - - CDH1 0 genome.wustl.edu 37 16 68835596 68835596 + Nonsense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 16 68835596 68835596 C T SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known nonsense c.187 p.R63* 0.175 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 208 0 0.00 120 18 13.04 - - - CDH10 0 genome.wustl.edu 37 5 24511615 24511615 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 5 24511615 24511615 G A SNP CDH10 ENST00000264463 human ensembl 69_37n -1 known missense c.823 p.H275Y 0.995 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC ENSG00000040731 58 0 0.00 49 10 16.95 - - - CDH19 0 genome.wustl.edu 37 18 64221726 64221726 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 18 64221726 64221726 C T SNP CDH19 ENST00000262150 human ensembl 69_37n -1 known missense c.526 p.D176N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH19 HGNC ENSG00000071991 139 0 0.00 102 16 13.56 - - - CEP89 0 genome.wustl.edu 37 19 33422303 33422303 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 19 33422303 33422303 G A SNP CEP89 ENST00000590597 human ensembl 69_37n -1 known missense c.1061 p.S354L 0.000 NULL NULL - no_errors CEP89 HGNC ENSG00000121289 90 0 0.00 77 13 14.44 - - - CHD4 0 genome.wustl.edu 37 12 6702638 6702638 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 12 6702638 6702638 C T SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known missense c.2458 p.E820K 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 149 1 0.67 84 18 17.65 - - - CKAP5 0 genome.wustl.edu 37 11 46786748 46786748 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 46786748 46786748 G C SNP CKAP5 ENST00000415402 human ensembl 69_37n -1 known missense c.3470 p.S1157C 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 332 0 0.00 304 39 11.34 - - - COL11A1 0 genome.wustl.edu 37 1 103412488 103412488 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 103412488 103412488 C T SNP COL11A1 ENST00000358392 human ensembl 69_37n -1 known missense c.3229 p.A1077T 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 39 0 0.00 28 7 20.00 - - - COPS6 0 genome.wustl.edu 37 7 99687264 99687264 + Nonsense_Mutation SNP G G T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 7 99687264 99687264 G T SNP COPS6 ENST00000303904 human ensembl 69_37n +1 known nonsense c.229 p.E77* 1.000 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors COPS6 HGNC ENSG00000168090 179 0 0.00 108 18 14.29 - - - CORO7 0 genome.wustl.edu 37 16 4415517 4415517 + Missense_Mutation SNP G G T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 16 4415517 4415517 G T SNP CORO7 ENST00000572467 human ensembl 69_37n -1 known missense c.815 p.S272Y 0.995 pfam_DUF1900 pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7 HGNC ENSG00000103426 114 0 0.00 58 12 17.14 - - - CPA3 0 genome.wustl.edu 37 3 148603939 148603939 + Silent SNP C C A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 3 148603939 148603939 C A SNP CPA3 ENST00000296046 human ensembl 69_37n +1 known silent c.1041 p.I347 0.976 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA3 HGNC ENSG00000163751 234 0 0.00 175 21 10.71 - - - CPLX4 0 genome.wustl.edu 37 18 56985530 56985530 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 18 56985530 56985530 C G SNP CPLX4 ENST00000299721 human ensembl 69_37n -1 known missense c.165 p.E55D 1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX4 HGNC ENSG00000166569 279 0 0.00 209 35 14.34 - - - CPSF7 0 genome.wustl.edu 37 11 61187439 61187439 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 61187439 61187439 C T SNP CPSF7 ENST00000340437 human ensembl 69_37n -1 known missense c.634 p.E212K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF7 HGNC ENSG00000149532 191 0 0.00 131 16 10.88 - - - CSMD1 0 genome.wustl.edu 37 8 3045463 3045463 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 8 3045463 3045463 C T SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.5551 p.E1851K 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 66 0 0.00 40 8 16.67 - - - CTGF 0 genome.wustl.edu 37 6 132271151 132271151 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 6 132271151 132271151 C G SNP CTGF ENST00000367976 human ensembl 69_37n -1 known missense c.691 p.E231Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors CTGF HGNC ENSG00000118523 116 0 0.00 88 12 12.00 - - - CUL4B 0 genome.wustl.edu 37 X 119678470 119678470 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d X 119678470 119678470 G A SNP CUL4B ENST00000404115 human ensembl 69_37n -1 known missense c.1003 p.H335Y 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 80 0 0.00 76 12 13.64 - - - CXorf58 0 genome.wustl.edu 37 X 23934361 23934361 + Missense_Mutation SNP C C A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d X 23934361 23934361 C A SNP CXorf58 ENST00000379211 human ensembl 69_37n +1 known missense c.339 p.F113L 0.996 NULL NULL - no_errors CXorf58 HGNC ENSG00000165182 255 0 0.00 182 22 10.78 - - - CYP11A1 0 genome.wustl.edu 37 15 74631005 74631005 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 15 74631005 74631005 G A SNP CYP11A1 ENST00000268053 human ensembl 69_37n -1 known silent c.1341 p.I447 0.003 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 214 0 0.00 145 25 14.71 - - - CYP3A43 0 genome.wustl.edu 37 7 99457509 99457509 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 7 99457509 99457509 G C SNP CYP3A43 ENST00000222382 human ensembl 69_37n +1 known missense c.922 p.D308H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP3A43 HGNC ENSG00000021461 210 0 0.00 177 24 11.94 - - - DCAF4L2 0 genome.wustl.edu 37 8 88885220 88885220 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 8 88885220 88885220 C T SNP DCAF4L2 ENST00000319675 human ensembl 69_37n -1 known missense c.980 p.G327E 0.995 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 138 0 0.00 105 15 12.50 - - - DCLRE1C 0 genome.wustl.edu 37 10 14951176 14951176 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 10 14951176 14951176 C G SNP DCLRE1C ENST00000378278 human ensembl 69_37n -1 known missense c.1310 p.R437T 0.000 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 165 1 0.60 138 21 13.21 - - - DDX3X 0 genome.wustl.edu 37 X 41204737 41204737 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d X 41204737 41204737 G A SNP DDX3X ENST00000399959 human ensembl 69_37n +1 known silent c.1251 p.Q417 1.000 smart_Helicase_ATP-bd,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 202 1 0.49 148 21 12.35 - - - DENND3 0 genome.wustl.edu 37 8 142166000 142166000 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 8 142166000 142166000 C G SNP DENND3 ENST00000262585 human ensembl 69_37n +1 known missense c.887 p.S296C 0.681 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 114 0 0.00 93 15 13.89 - - - DYNC2LI1 0 genome.wustl.edu 37 2 44032338 44032338 + Nonsense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 2 44032338 44032338 C T SNP DYNC2LI1 ENST00000260605 human ensembl 69_37n +1 known nonsense c.946 p.Q316* 1.000 NULL pfam_Dynein_light_int_chain - no_errors DYNC2LI1 HGNC ENSG00000138036 132 0 0.00 67 19 22.09 - - - ECEL1 0 genome.wustl.edu 37 2 233347817 233347817 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 2 233347817 233347817 C G SNP ECEL1 ENST00000304546 human ensembl 69_37n -1 known missense c.1579 p.E527Q 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 51 0 0.00 28 7 20.00 - - - ECHDC3 0 genome.wustl.edu 37 10 11789450 11789450 + Silent SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 10 11789450 11789450 G C SNP ECHDC3 ENST00000379215 human ensembl 69_37n +1 known silent c.273 p.L91 0.984 pfam_Crotonase_core pfam_Crotonase_core - no_errors ECHDC3 HGNC ENSG00000134463 80 0 0.00 58 11 15.94 - - - EPHB6 0 genome.wustl.edu 37 7 142564664 142564664 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 7 142564664 142564664 G C SNP EPHB6 ENST00000392957 human ensembl 69_37n +1 known missense c.1588 p.E530Q 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB6 HGNC ENSG00000106123 49 0 0.00 32 5 13.51 - - - ESPL1 0 genome.wustl.edu 37 12 53666536 53666536 + Missense_Mutation SNP C C A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 12 53666536 53666536 C A SNP ESPL1 ENST00000257934 human ensembl 69_37n +1 known missense c.1401 p.F467L 1.000 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ENSG00000135476 167 0 0.00 117 16 12.03 - - - ETS2 0 genome.wustl.edu 37 21 40194639 40194639 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 21 40194639 40194639 G C SNP ETS2 ENST00000360214 human ensembl 69_37n +1 known missense c.1236 p.M412I 1.000 pfam_Ets,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS2 HGNC ENSG00000157557 129 0 0.00 90 18 16.51 - - - FABP5P3 0 genome.wustl.edu 37 7 152139796 152139796 + RNA SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 7 152139796 152139796 G A SNP FABP5P3 ENST00000477993 human ensembl 69_37n +1 known rna NULL NULL 0.978 - - - no_errors FABP5P3 HGNC ENSG00000241735 21 0 0.00 19 4 17.39 - - - FAM161B 0 genome.wustl.edu 37 14 74409190 74409190 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 14 74409190 74409190 C G SNP FAM161B ENST00000286544 human ensembl 69_37n -1 known missense c.1343 p.R448T 0.486 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161B HGNC ENSG00000156050 238 0 0.00 187 28 13.02 - - - FAM76B 0 genome.wustl.edu 37 11 95521679 95521679 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 95521679 95521679 C T SNP FAM76B ENST00000358780 human ensembl 69_37n -1 known missense c.136 p.E46K 1.000 NULL NULL - no_errors FAM76B HGNC ENSG00000077458 162 0 0.00 96 11 10.28 - - - FEZ1 0 genome.wustl.edu 37 11 125351488 125351488 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 125351488 125351488 G A SNP FEZ1 ENST00000278919 human ensembl 69_37n -1 known missense c.353 p.S118L 0.247 pfam_FEZ pfam_FEZ - no_errors FEZ1 HGNC ENSG00000149557 197 0 0.00 119 17 12.50 - - - FGD5 0 genome.wustl.edu 37 3 14963443 14963443 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 3 14963443 14963443 C T SNP FGD5 ENST00000285046 human ensembl 69_37n +1 known silent c.3588 p.D1196 0.997 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 41 0 0.00 39 5 11.36 - - - FNBP1L 0 genome.wustl.edu 37 1 93989865 93989865 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 93989865 93989865 G C SNP FNBP1L ENST00000271234 human ensembl 69_37n +1 known missense c.390 p.W130C 1.000 NULL pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FNBP1L HGNC ENSG00000137942 153 1 0.65 119 15 11.19 - - - FRMPD1 0 genome.wustl.edu 37 9 37735702 37735702 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 9 37735702 37735702 G A SNP FRMPD1 ENST00000377765 human ensembl 69_37n +1 known missense c.1372 p.V458I 0.999 pfscan_FERM_domain pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 108 0 0.00 76 11 12.64 - - - G3BP1 0 genome.wustl.edu 37 5 151179471 151179471 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 5 151179471 151179471 G A SNP G3BP1 ENST00000356245 human ensembl 69_37n +1 known missense c.865 p.E289K 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 89 0 0.00 70 8 10.26 - - - G3BP2 0 genome.wustl.edu 37 4 76570799 76570799 + Missense_Mutation SNP C C A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 4 76570799 76570799 C A SNP G3BP2 ENST00000359707 human ensembl 69_37n -1 known missense c.1264 p.D422Y 1.000 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP2 HGNC ENSG00000138757 458 0 0.00 357 58 13.98 - - - GALR1 0 genome.wustl.edu 37 18 74962762 74962762 + Silent SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 18 74962762 74962762 C G SNP GALR1 ENST00000299727 human ensembl 69_37n +1 known silent c.258 p.L86 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Galanin_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Galnin_1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt - no_errors GALR1 HGNC ENSG00000166573 72 0 0.00 43 7 14.00 - - - GGN 0 genome.wustl.edu 37 19 38876804 38876804 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 19 38876804 38876804 G A SNP GGN ENST00000334928 human ensembl 69_37n -1 known silent c.1098 p.F366 1.000 NULL NULL - no_errors GGN HGNC ENSG00000179168 26 0 0.00 33 5 13.16 - - - GLIS3 0 genome.wustl.edu 37 9 4117903 4117903 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 9 4117903 4117903 G A SNP GLIS3 ENST00000381971 human ensembl 69_37n -1 known silent c.1575 p.H525 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 109 0 0.00 91 13 12.50 - - - GNAT2 0 genome.wustl.edu 37 1 110148667 110148667 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 110148667 110148667 G A SNP GNAT2 ENST00000351050 human ensembl 69_37n -1 known silent c.645 p.F215 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT2 HGNC ENSG00000134183 159 1 0.62 124 15 10.79 - - - GORASP2 0 genome.wustl.edu 37 2 171807955 171807955 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 2 171807955 171807955 G A SNP GORASP2 ENST00000452526 human ensembl 69_37n +1 known missense c.589 p.G197S 1.000 pfam_GRASP55/65_PDZ,superfamily_PDZ pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP2 HGNC ENSG00000115806 184 0 0.00 124 25 16.78 - - - GPR114 0 genome.wustl.edu 37 16 57601828 57601828 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 16 57601828 57601828 G A SNP GPR114 ENST00000340339 human ensembl 69_37n +1 known silent c.882 p.L294 0.995 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 84 0 0.00 66 8 10.81 - - - GPR6 0 genome.wustl.edu 37 6 110301388 110301388 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 6 110301388 110301388 C G SNP GPR6 ENST00000414000 human ensembl 69_37n +1 known missense c.1118 p.S373C 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR6_rcpt,prints_GPR_orph_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors GPR6 HGNC ENSG00000146360 74 0 0.00 66 8 10.81 - - - GREB1L 0 genome.wustl.edu 37 18 19029545 19029545 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 18 19029545 19029545 G A SNP GREB1L ENST00000424526 human ensembl 69_37n +1 known missense c.1468 p.E490K 1.000 NULL NULL - no_errors GREB1L HGNC ENSG00000141449 117 0 0.00 73 13 15.12 - - - GRIK1 0 genome.wustl.edu 37 21 30925922 30925922 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 21 30925922 30925922 C T SNP GRIK1 ENST00000309434 human ensembl 69_37n -1 known missense c.2717 p.R906Q 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 147 0 0.00 95 17 15.18 - - - HAUS3 0 genome.wustl.edu 37 4 2233655 2233655 + Nonstop_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 4 2233655 2233655 C G SNP HAUS3 ENST00000243706 human ensembl 69_37n -1 known nonstop c.1811 p.*604S 1.000 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 66 0 0.00 62 7 10.14 - - - HCRTR1 0 genome.wustl.edu 37 1 32092459 32092459 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 32092459 32092459 C G SNP HCRTR1 ENST00000373706 human ensembl 69_37n +1 known missense c.1156 p.L386V 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Orexin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 86 0 0.00 71 8 10.13 - - - HDAC8 0 genome.wustl.edu 37 X 71715093 71715093 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d X 71715093 71715093 G C SNP HDAC8 ENST00000373573 human ensembl 69_37n -1 known missense c.463 p.L155V 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC8 HGNC ENSG00000147099 178 1 0.55 137 25 15.43 - - - HIRA 0 genome.wustl.edu 37 22 19344476 19344476 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 22 19344476 19344476 G C SNP HIRA ENST00000263208 human ensembl 69_37n -1 known missense c.2333 p.S778C 1.000 pfam_Hira pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 198 0 0.00 131 18 12.08 - - - INTU 0 genome.wustl.edu 37 4 128626754 128626754 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 4 128626754 128626754 G C SNP INTU ENST00000335251 human ensembl 69_37n +1 known missense c.1575 p.L525F 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 239 1 0.41 184 23 11.11 - - - IPO5 0 genome.wustl.edu 37 13 98660331 98660331 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 13 98660331 98660331 G C SNP IPO5 ENST00000261574 human ensembl 69_37n +1 known missense c.1789 p.D597H 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 169 0 0.00 100 12 10.71 - - - IQGAP3 0 genome.wustl.edu 37 1 156500030 156500030 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 156500030 156500030 G A SNP IQGAP3 ENST00000361170 human ensembl 69_37n -1 known missense c.4271 p.S1424L 0.999 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 93 0 0.00 73 12 13.95 - - - IRF9 0 genome.wustl.edu 37 14 24631447 24631447 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 14 24631447 24631447 G A SNP IRF9 ENST00000396864 human ensembl 69_37n +1 known missense c.94 p.D32N 0.967 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC ENSG00000213928 81 0 0.00 68 13 16.05 - - - KCNB2 0 genome.wustl.edu 37 8 73480017 73480017 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 8 73480017 73480017 G A SNP KCNB2 ENST00000523207 human ensembl 69_37n +1 known silent c.48 p.S16 0.352 NULL pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 60 0 0.00 43 8 15.69 - - - KCNK7 0 genome.wustl.edu 37 11 65360593 65360593 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 65360593 65360593 G C SNP KCNK7 ENST00000340313 human ensembl 69_37n -1 known missense c.807 p.F269L 0.410 pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TWIK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK - no_errors KCNK7 HGNC ENSG00000173338 73 0 0.00 49 10 16.95 - - - KDM2B 0 genome.wustl.edu 37 12 121986850 121986850 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 12 121986850 121986850 C T SNP KDM2B ENST00000377071 human ensembl 69_37n -1 known silent c.615 p.Q205 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 273 1 0.36 229 27 10.55 - - - KDM5C 0 genome.wustl.edu 37 X 53225894 53225894 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d X 53225894 53225894 C T SNP KDM5C ENST00000375401 human ensembl 69_37n -1 known silent c.2955 p.E985 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 76 0 0.00 53 7 11.67 - - - KIAA1143 0 genome.wustl.edu 37 3 44795848 44795848 + Missense_Mutation SNP G G T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 3 44795848 44795848 G T SNP KIAA1143 ENST00000296121 human ensembl 69_37n -1 known missense c.121 p.Q41K 1.000 NULL NULL - no_errors KIAA1143 HGNC ENSG00000163807 229 0 0.00 191 33 14.73 - - - KIAA1731 0 genome.wustl.edu 37 11 93457518 93457518 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 93457518 93457518 C T SNP KIAA1731 ENST00000411936 human ensembl 69_37n +1 known missense c.6295 p.P2099S 1.000 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 244 0 0.00 212 29 11.98 - - - KIF13A 0 genome.wustl.edu 37 6 17796927 17796927 + Missense_Mutation SNP T T C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 6 17796927 17796927 T C SNP KIF13A ENST00000259711 human ensembl 69_37n -1 known missense c.2915 p.H972R 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 79 0 0.00 52 7 11.67 - - - KIF2B 0 genome.wustl.edu 37 17 51902101 51902101 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 17 51902101 51902101 C T SNP KIF2B ENST00000268919 human ensembl 69_37n +1 known silent c.1707 p.I569 0.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 99 0 0.00 63 10 13.51 - - - LRRC23 0 genome.wustl.edu 37 12 7019087 7019087 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 12 7019087 7019087 G C SNP LRRC23 ENST00000007969 human ensembl 69_37n +1 known missense c.655 p.E219Q 1.000 NULL pfam_Leu-rich_rpt - no_errors LRRC23 HGNC ENSG00000010626 123 0 0.00 102 13 11.30 - - - LRRC8E 0 genome.wustl.edu 37 19 7964304 7964304 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 19 7964304 7964304 C T SNP LRRC8E ENST00000306708 human ensembl 69_37n +1 known silent c.897 p.F299 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 164 0 0.00 126 15 10.64 - - - LRRCC1 0 genome.wustl.edu 37 8 86047157 86047157 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 8 86047157 86047157 G C SNP LRRCC1 ENST00000360375 human ensembl 69_37n +1 known missense c.2044 p.E682Q 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 131 0 0.00 105 15 12.50 - - - LRRFIP2 0 genome.wustl.edu 37 3 37146954 37146954 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 3 37146954 37146954 C G SNP LRRFIP2 ENST00000336686 human ensembl 69_37n -1 known missense c.775 p.E259Q 1.000 NULL pfam_Leu-rich_rep_flightless-int_pr,superfamily_HLH_DNA-bd,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 153 0 0.00 101 17 14.41 - - - MADD 0 genome.wustl.edu 37 11 47300612 47300612 + Silent SNP G G T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 47300612 47300612 G T SNP MADD ENST00000311027 human ensembl 69_37n +1 known silent c.1272 p.L424 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 158 0 0.00 95 16 14.41 - - - MAP3K1 0 genome.wustl.edu 37 5 56178257 56178257 + Nonsense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 5 56178257 56178257 C G SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel nonsense c.3230 p.S1077* 0.756 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 100 0 0.00 74 11 12.94 - - - MARCH4 0 genome.wustl.edu 37 2 217234943 217234945 + In_Frame_Del DEL CAC CAC - TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 CAC CAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 2 217234943 217234945 CAC - DEL MARCH4 ENST00000273067 human ensembl 69_37n -1 known in_frame_del c.41_39 p.W13in_frame_del 0.998:0.995:0.644 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 28 0 0.00 17 3 15.00 - - - MAST2 0 genome.wustl.edu 37 1 46496719 46496719 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 46496719 46496719 G C SNP MAST2 ENST00000361297 human ensembl 69_37n +1 known missense c.2749 p.E917Q 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST2 HGNC ENSG00000086015 43 0 0.00 30 4 11.76 - - - MBD5 0 genome.wustl.edu 37 2 149226685 149226685 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 2 149226685 149226685 G C SNP MBD5 ENST00000407073 human ensembl 69_37n +1 known missense c.1173 p.M391I 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP - no_errors MBD5 HGNC ENSG00000204406 104 0 0.00 76 12 13.48 - - - MFF 0 genome.wustl.edu 37 2 228211994 228211994 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 2 228211994 228211994 G A SNP MFF ENST00000353339 human ensembl 69_37n +1 known missense c.646 p.E216K 1.000 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors MFF HGNC ENSG00000168958 226 0 0.00 143 31 17.82 - - - MID2 0 genome.wustl.edu 37 X 107169922 107169922 + Nonsense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d X 107169922 107169922 C G SNP MID2 ENST00000262843 human ensembl 69_37n +1 known nonsense c.1827 p.Y609* 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC ENSG00000080561 98 0 0.00 66 8 10.81 - - - MMS22L 0 genome.wustl.edu 37 6 97715767 97715767 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 6 97715767 97715767 G A SNP MMS22L ENST00000275053 human ensembl 69_37n -1 known missense c.809 p.S270L 1.000 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 170 0 0.00 108 19 14.96 - - - MSL3 0 genome.wustl.edu 37 X 11778559 11778559 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d X 11778559 11778559 G A SNP MSL3 ENST00000312196 human ensembl 69_37n +1 known missense c.223 p.D75N 1.000 superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_MRG,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 133 0 0.00 85 12 12.37 - - - MUC16 0 genome.wustl.edu 37 19 9091122 9091122 + Silent SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 19 9091122 9091122 C G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.693 p.G231 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 182 1 0.54 154 19 10.98 - - - MYH6 0 genome.wustl.edu 37 14 23855274 23855274 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 14 23855274 23855274 C T SNP MYH6 ENST00000356287 human ensembl 69_37n -1 known missense c.5026 p.V1676M 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 108 0 0.00 66 8 10.81 - - - NEDD8-MDP1 0 genome.wustl.edu 37 14 24687410 24687410 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 14 24687410 24687410 G C SNP NEDD8-MDP1 ENST00000530579 human ensembl 69_37n -1 known missense c.78 p.I26M 0.999 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors NEDD8-MDP1 HGNC ENSG00000255526 148 0 0.00 126 18 12.50 - - - NF1 0 genome.wustl.edu 37 17 29546065 29546065 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 17 29546065 29546065 G C SNP NF1 ENST00000358273 human ensembl 69_37n +1 known missense c.1570 p.E524Q 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 147 0 0.00 68 11 13.92 - - - NFAT5 0 genome.wustl.edu 37 16 69726330 69726330 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 16 69726330 69726330 G C SNP NFAT5 ENST00000432919 human ensembl 69_37n +1 known missense c.2602 p.E868Q 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 143 0 0.00 65 13 16.67 - - - NLRP12 0 genome.wustl.edu 37 19 54313212 54313212 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 19 54313212 54313212 C T SNP NLRP12 ENST00000391773 human ensembl 69_37n -1 known silent c.1701 p.L567 0.469 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 42 0 0.00 36 7 16.28 - - - NPEPPS 0 genome.wustl.edu 37 17 45608784 45608784 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 17 45608784 45608784 C T SNP NPEPPS ENST00000322157 human ensembl 69_37n +1 known silent c.118 p.L40 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 9 0 0.00 3 3 50.00 - - - NR2E3 0 genome.wustl.edu 37 15 72109926 72109926 + RNA SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 15 72109926 72109926 G C SNP NR2E3 ENST00000326995 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors NR2E3 HGNC ENSG00000031544 116 0 0.00 81 16 16.49 - - - NSUN5P2 0 genome.wustl.edu 37 7 72419433 72419433 + RNA SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 7 72419433 72419433 G A SNP NSUN5P2 ENST00000388955 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors NSUN5P2 HGNC ENSG00000106133 75 0 0.00 52 9 14.75 - - - NTNG1 0 genome.wustl.edu 37 1 107961246 107961246 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 107961246 107961246 G C SNP NTNG1 ENST00000370061 human ensembl 69_37n +1 known missense c.1132 p.E378Q 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 245 0 0.00 193 31 13.84 - - - OR4B1 0 genome.wustl.edu 37 11 48238979 48238979 + Silent SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 48238979 48238979 C G SNP OR4B1 ENST00000309562 human ensembl 69_37n +1 known silent c.618 p.V206 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4B1 HGNC ENSG00000175619 136 1 0.72 104 15 12.61 - - - OR8H1 0 genome.wustl.edu 37 11 56058164 56058164 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 56058164 56058164 G A SNP OR8H1 ENST00000313022 human ensembl 69_37n -1 known silent c.375 p.I125 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR8H1 HGNC ENSG00000181693 160 0 0.00 115 16 12.12 - - - OR9K2 0 genome.wustl.edu 37 12 55524054 55524054 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 12 55524054 55524054 C G SNP OR9K2 ENST00000305377 human ensembl 69_37n +1 known missense c.502 p.Q168E 0.006 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR9K2 HGNC ENSG00000170605 163 0 0.00 138 17 10.97 - - - PAPD4 0 genome.wustl.edu 37 5 78919237 78919237 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 5 78919237 78919237 C T SNP PAPD4 ENST00000296783 human ensembl 69_37n +1 known silent c.390 p.V130 1.000 NULL pfam_PAP_assoc - no_errors PAPD4 HGNC ENSG00000164329 165 0 0.00 99 12 10.81 - - - PAPSS2 0 genome.wustl.edu 37 10 89474611 89474611 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 10 89474611 89474611 G A SNP PAPSS2 ENST00000456849 human ensembl 69_37n +1 known silent c.630 p.L210 1.000 tigrfam_APS_kinase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS2 HGNC ENSG00000198682 224 2 0.88 150 17 10.18 - - - PAQR3 0 genome.wustl.edu 37 4 79856355 79856355 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 4 79856355 79856355 C G SNP PAQR3 ENST00000511594 human ensembl 69_37n -1 known missense c.268 p.D90H 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR3 HGNC ENSG00000163291 142 1 0.70 93 13 12.26 - - - PCDHB14 0 genome.wustl.edu 37 5 140604293 140604293 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 5 140604293 140604293 G C SNP PCDHB14 ENST00000239449 human ensembl 69_37n +1 known missense c.1216 p.E406Q 0.004 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 PCDHB14 HGNC ENSG00000120327 115 0 0.00 121 15 11.03 - - - PER2 0 genome.wustl.edu 37 2 239181776 239181776 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 2 239181776 239181776 C G SNP PER2 ENST00000254657 human ensembl 69_37n -1 known missense c.505 p.D169H 0.924 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 88 0 0.00 58 8 12.12 - - - PEX1 0 genome.wustl.edu 37 7 92147080 92147080 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 7 92147080 92147080 C T SNP PEX1 ENST00000248633 human ensembl 69_37n -1 known missense c.749 p.G250E 1.000 NULL pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 202 0 0.00 137 23 14.37 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 3 178952085 178952085 A T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047L 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 118 0 0.00 108 13 10.74 - - - PITPNM1 0 genome.wustl.edu 37 11 67265000 67265000 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 67265000 67265000 G C SNP PITPNM1 ENST00000356404 human ensembl 69_37n -1 known missense c.1933 p.Q645E 0.785 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 56 0 0.00 59 8 11.94 - - - PLCB4 0 genome.wustl.edu 37 20 9370583 9370583 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 20 9370583 9370583 C G SNP PLCB4 ENST00000334005 human ensembl 69_37n +1 known missense c.1216 p.L406V 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 212 0 0.00 140 19 11.95 - - - PLEKHA7 0 genome.wustl.edu 37 11 16810673 16810673 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 16810673 16810673 G A SNP PLEKHA7 ENST00000530489 human ensembl 69_37n -1 known missense c.2222 p.S741L 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PLEKHA7 HGNC ENSG00000166689 56 0 0.00 43 6 12.24 - - - PNLDC1 0 genome.wustl.edu 37 6 160222208 160222208 + Silent SNP C C A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 6 160222208 160222208 C A SNP PNLDC1 ENST00000275275 human ensembl 69_37n +1 known silent c.165 p.V55 0.988 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 231 0 0.00 164 26 13.68 - - - POMT2 0 genome.wustl.edu 37 14 77751976 77751976 + Splice_Site SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 14 77751976 77751976 C G SNP POMT2 ENST00000261534 human ensembl 69_37n -1 known splice_site c.1333-1 e13-1 1.000 - - - no_errors POMT2 HGNC ENSG00000009830 70 0 0.00 47 8 14.55 - - - PPA1 0 genome.wustl.edu 37 10 71969403 71969403 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 10 71969403 71969403 C T SNP PPA1 ENST00000373232 human ensembl 69_37n -1 known missense c.550 p.E184K 1.000 pfam_Pyrophosphatase,superfamily_Pyrophosphatase pfam_Pyrophosphatase,superfamily_Pyrophosphatase - no_errors PPA1 HGNC ENSG00000180817 200 0 0.00 135 19 12.34 - - - PPP1R12A 0 genome.wustl.edu 37 12 80190988 80190988 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 12 80190988 80190988 C T SNP PPP1R12A ENST00000261207 human ensembl 69_37n -1 known missense c.2279 p.R760K 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 465 0 0.00 427 51 10.67 - - - PPP1R8 0 genome.wustl.edu 37 1 28169711 28169711 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 28169711 28169711 C G SNP PPP1R8 ENST00000311772 human ensembl 69_37n +1 known missense c.507 p.F169L 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors PPP1R8 HGNC ENSG00000117751 102 0 0.00 77 12 13.48 - - - PRKD3 0 genome.wustl.edu 37 2 37516501 37516501 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 2 37516501 37516501 C G SNP PRKD3 ENST00000234179 human ensembl 69_37n -1 known missense c.715 p.E239Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 157 0 0.00 122 17 12.23 - - - PROX1 0 genome.wustl.edu 37 1 214170738 214170738 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 214170738 214170738 G C SNP PROX1 ENST00000261454 human ensembl 69_37n +1 known missense c.860 p.R287T 0.981 pfam_Prox1 pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 70 0 0.00 62 7 10.14 - - - PTPN7 0 genome.wustl.edu 37 1 202121761 202121761 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 202121761 202121761 C T SNP PTPN7 ENST00000309017 human ensembl 69_37n -1 known missense c.1099 p.E367K 0.970 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt 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,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN7 HGNC ENSG00000143851 122 0 0.00 72 10 12.20 - - - PTPRK 0 genome.wustl.edu 37 6 128410949 128410949 + Nonsense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 6 128410949 128410949 G A SNP PTPRK ENST00000368227 human ensembl 69_37n -1 known nonsense c.1351 p.Q451* 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 270 1 0.37 231 26 10.12 - - - PUM1 0 genome.wustl.edu 37 1 31406059 31406059 + Nonstop_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 31406059 31406059 C G SNP PUM1 ENST00000426105 human ensembl 69_37n -1 known nonstop c.3566 p.*1189S 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 115 0 0.00 76 13 14.61 - - - QRICH1 0 genome.wustl.edu 37 3 49083950 49083950 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 3 49083950 49083950 C T SNP QRICH1 ENST00000357496 human ensembl 69_37n -1 known missense c.1579 p.G527R 1.000 NULL pfam_DUF3504,superfamily_DEATH-like - no_errors QRICH1 HGNC ENSG00000198218 113 0 0.00 87 12 12.12 - - - R3HDML 0 genome.wustl.edu 37 20 42972038 42972038 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 20 42972038 42972038 C T SNP R3HDML ENST00000217043 human ensembl 69_37n +1 known silent c.402 p.L134 0.012 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors R3HDML HGNC ENSG00000101074 89 0 0.00 65 8 10.96 - - - RALGAPB 0 genome.wustl.edu 37 20 37202806 37202806 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 20 37202806 37202806 G C SNP RALGAPB ENST00000262879 human ensembl 69_37n +1 known missense c.4156 p.E1386Q 1.000 pfscan_Rap_GAP superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC ENSG00000170471 173 1 0.56 100 13 11.50 - - - RCSD1 0 genome.wustl.edu 37 1 167663386 167663386 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 167663386 167663386 G C SNP RCSD1 ENST00000367854 human ensembl 69_37n +1 known missense c.321 p.K107N 1.000 NULL pfam_RCSD - no_errors RCSD1 HGNC ENSG00000198771 87 0 0.00 62 11 15.07 - - - REC8 0 genome.wustl.edu 37 14 24642177 24642177 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 14 24642177 24642177 C G SNP REC8 ENST00000311457 human ensembl 69_37n +1 known missense c.195 p.F65L 1.000 pfam_Rad21_Rec8_N pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors REC8 HGNC ENSG00000100918 96 0 0.00 43 6 12.24 - - - RGS12 0 genome.wustl.edu 37 4 3344728 3344728 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 4 3344728 3344728 C T SNP RGS12 ENST00000344733 human ensembl 69_37n +1 known missense c.1946 p.S649L 0.845 NULL pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTyr_interaction_dom,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTyr_interaction_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS12 HGNC ENSG00000159788 231 1 0.43 168 24 12.50 - - - RIT1 0 genome.wustl.edu 37 1 155880559 155880559 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 155880559 155880559 C T SNP RIT1 ENST00000368322 human ensembl 69_37n -1 putative silent c.45 p.K15 0.006 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT1 HGNC ENSG00000143622 108 0 0.00 83 14 14.43 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037843 10037843 + RNA SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d Y 10037843 10037843 C T SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 34 0 0.00 22 5 18.52 - - - RPAP2 0 genome.wustl.edu 37 1 92789578 92789578 + Silent SNP T T G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 92789578 92789578 T G SNP RPAP2 ENST00000370343 human ensembl 69_37n +1 known silent c.1101 p.L367 1.000 NULL pfam_DUF408 - no_errors RPAP2 HGNC ENSG00000122484 135 0 0.00 90 21 18.92 - - - RPGR 0 genome.wustl.edu 37 X 38146055 38146055 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d X 38146055 38146055 C T SNP RPGR ENST00000378505 human ensembl 69_37n -1 known missense c.2197 p.E733K 0.000 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 480 0 0.00 483 55 10.20 - - - RYR3 0 genome.wustl.edu 37 15 33927951 33927951 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 15 33927951 33927951 G A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known silent c.3312 p.A1104 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 169 0 0.00 125 17 11.97 - - - SCAMP3 0 genome.wustl.edu 37 1 155231934 155231934 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 155231934 155231934 C T SNP SCAMP3 ENST00000302631 human ensembl 69_37n -1 known silent c.9 p.Q3 0.850 NULL pfam_SCAMP - no_errors SCAMP3 HGNC ENSG00000116521 89 0 0.00 66 10 13.16 - - - SF1 0 genome.wustl.edu 37 11 64534715 64534715 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 64534715 64534715 G A SNP SF1 ENST00000377394 human ensembl 69_37n -1 known missense c.1355 p.P452L 1.000 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 127 0 0.00 81 14 14.74 - - - SHE 0 genome.wustl.edu 37 1 154471712 154471712 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 154471712 154471712 G A SNP SHE ENST00000304760 human ensembl 69_37n -1 known silent c.594 p.V198 0.999 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHE HGNC ENSG00000169291 176 1 0.56 154 24 13.48 - - - SIDT2 0 genome.wustl.edu 37 11 117052583 117052583 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 117052583 117052583 G A SNP SIDT2 ENST00000278951 human ensembl 69_37n +1 known silent c.366 p.K122 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 127 0 0.00 89 10 10.10 - - - SLC17A6 0 genome.wustl.edu 37 11 22397575 22397575 + Missense_Mutation SNP A A G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 22397575 22397575 A G SNP SLC17A6 ENST00000263160 human ensembl 69_37n +1 known missense c.1222 p.T408A 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 245 2 0.80 171 21 10.94 - - - SLC1A6 0 genome.wustl.edu 37 19 15082654 15082654 + Nonsense_Mutation SNP G G T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 19 15082654 15082654 G T SNP SLC1A6 ENST00000430939 human ensembl 69_37n -1 known nonsense c.251 p.S84* 0.883 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 121 0 0.00 78 10 11.36 - - - SLC25A13 0 genome.wustl.edu 37 7 95906630 95906630 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 7 95906630 95906630 G A SNP SLC25A13 ENST00000416240 human ensembl 69_37n -1 known silent c.90 p.N30 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A13 HGNC ENSG00000004864 113 0 0.00 80 15 15.79 - - - SLC25A34 0 genome.wustl.edu 37 1 16063212 16063212 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 16063212 16063212 C T SNP SLC25A34 ENST00000294454 human ensembl 69_37n +1 known silent c.232 p.L78 0.994 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A34 HGNC ENSG00000162461 40 0 0.00 27 4 12.90 - - - SLC26A1 0 genome.wustl.edu 37 4 985117 985117 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 4 985117 985117 G C SNP SLC26A1 ENST00000361661 human ensembl 69_37n -1 known missense c.375 p.I125M 1.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 32 0 0.00 30 5 14.29 - - - SLFN5 0 genome.wustl.edu 37 17 33592664 33592664 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 17 33592664 33592664 G A SNP SLFN5 ENST00000299977 human ensembl 69_37n +1 known missense c.2433 p.M811I 0.889 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN5 HGNC ENSG00000166750 117 0 0.00 69 12 14.81 - - - SMCR7 0 genome.wustl.edu 37 17 18167940 18167940 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 17 18167940 18167940 C T SNP SMCR7 ENST00000323019 human ensembl 69_37n +1 known silent c.1227 p.I409 0.005 NULL NULL - no_errors SMCR7 HGNC ENSG00000177427 30 0 0.00 18 4 18.18 - - - SMYD3 0 genome.wustl.edu 37 1 246078940 246078940 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 246078940 246078940 G A SNP SMYD3 ENST00000388985 human ensembl 69_37n -1 known silent c.705 p.L235 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD3 HGNC ENSG00000185420 105 0 0.00 78 14 15.22 - - - SMYD3 0 genome.wustl.edu 37 1 246670372 246670372 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 246670372 246670372 C T SNP SMYD3 ENST00000388985 human ensembl 69_37n -1 known missense c.148 p.D50N 0.999 pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_Znf_MYND pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD3 HGNC ENSG00000185420 19 0 0.00 12 4 25.00 - - - SNRK 0 genome.wustl.edu 37 3 43384891 43384891 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 3 43384891 43384891 G C SNP SNRK ENST00000296088 human ensembl 69_37n +1 known missense c.1000 p.E334Q 1.000 pfscan_UBA/transl_elong_EF1B_N_euk 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors SNRK HGNC ENSG00000163788 101 0 0.00 74 13 14.94 - - - SNX27 0 genome.wustl.edu 37 1 151641007 151641007 + Missense_Mutation SNP G G T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 151641007 151641007 G T SNP SNX27 ENST00000368843 human ensembl 69_37n +1 known missense c.1045 p.A349S 1.000 pfam_Ras-assoc,pfscan_Ras-assoc pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 196 1 0.50 134 17 11.26 - - - ST18 0 genome.wustl.edu 37 8 53038648 53038648 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 8 53038648 53038648 C T SNP ST18 ENST00000276480 human ensembl 69_37n -1 known missense c.2719 p.E907K 0.999 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 209 0 0.00 124 19 13.29 - - - ST5 0 genome.wustl.edu 37 11 8728716 8728716 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 11 8728716 8728716 G A SNP ST5 ENST00000313726 human ensembl 69_37n -1 known silent c.2487 p.F829 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 131 1 0.76 107 18 14.40 - - - SUSD2 0 genome.wustl.edu 37 22 24583679 24583679 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 22 24583679 24583679 G C SNP SUSD2 ENST00000358321 human ensembl 69_37n +1 known missense c.2032 p.E678Q 0.150 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 177 0 0.00 120 16 11.76 - - - SYT2 0 genome.wustl.edu 37 1 202568369 202568369 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 202568369 202568369 C G SNP SYT2 ENST00000367267 human ensembl 69_37n -1 known missense c.1030 p.E344Q 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting - no_errors SYT2 HGNC ENSG00000143858 391 0 0.00 356 52 12.71 - - - TCP11 0 genome.wustl.edu 37 6 35086222 35086222 + Missense_Mutation SNP G G T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 6 35086222 35086222 G T SNP TCP11 ENST00000311875 human ensembl 69_37n -1 known missense c.1375 p.L459I 1.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11 HGNC ENSG00000124678 133 1 0.74 76 12 13.64 - - - TGM5 0 genome.wustl.edu 37 15 43525482 43525482 + Missense_Mutation SNP C C A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 15 43525482 43525482 C A SNP TGM5 ENST00000220420 human ensembl 69_37n -1 known missense c.2070 p.K690N 1.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 331 1 0.30 240 29 10.78 - - - TICAM2 0 genome.wustl.edu 37 5 114952043 114952043 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 5 114952043 114952043 C T SNP TICAM2 ENST00000408996 human ensembl 69_37n -1 known missense c.538 p.E180K 1.000 pfam_GOLD pfam_GOLD,pfam_TIR_dom,superfamily_GOLD,superfamily_TIR_dom,pfscan_GOLD,pfscan_TIR_dom - no_errors TICAM2 HGNC ENSG00000243414 167 0 0.00 125 17 11.97 - - - TLR4 0 genome.wustl.edu 37 9 120476002 120476002 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 9 120476002 120476002 C G SNP TLR4 ENST00000355622 human ensembl 69_37n +1 known missense c.1596 p.F532L 0.000 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 186 0 0.00 132 16 10.81 - - - TRIOBP 0 genome.wustl.edu 37 22 38131375 38131375 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 22 38131375 38131375 C T SNP TRIOBP ENST00000406386 human ensembl 69_37n +1 known silent c.5032 p.L1678 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 43 0 0.00 24 6 20.00 - - - TSHR 0 genome.wustl.edu 37 14 81606069 81606069 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 14 81606069 81606069 G A SNP TSHR ENST00000298171 human ensembl 69_37n +1 known missense c.739 p.E247K 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 124 0 0.00 70 15 17.65 - - - TSPEAR 0 genome.wustl.edu 37 21 45929254 45929254 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 21 45929254 45929254 C T SNP TSPEAR ENST00000323084 human ensembl 69_37n -1 known missense c.1582 p.D528N 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 82 0 0.00 39 9 18.75 - - - TTLL1 0 genome.wustl.edu 37 22 43464475 43464475 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 22 43464475 43464475 G C SNP TTLL1 ENST00000266254 human ensembl 69_37n -1 known missense c.444 p.I148M 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL1 HGNC ENSG00000100271 107 0 0.00 73 12 14.12 - - - TTN 0 genome.wustl.edu 37 2 179592543 179592543 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 2 179592543 179592543 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.16030 p.D5344H 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 115 0 0.00 92 12 11.54 - - - UBE2D2 0 genome.wustl.edu 37 5 138994175 138994175 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 5 138994175 138994175 C G SNP UBE2D2 ENST00000398733 human ensembl 69_37n +1 known missense c.93 p.F31L 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2D2 HGNC ENSG00000131508 328 0 0.00 209 31 12.92 - - - UNC13A 0 genome.wustl.edu 37 19 17780393 17780393 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 19 17780393 17780393 G A SNP UNC13A ENST00000428389 human ensembl 69_37n -1 known silent c.627 p.I209 0.998 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 73 0 0.00 49 8 14.04 - - - UNC13C 0 genome.wustl.edu 37 15 54305910 54305910 + Silent SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 15 54305910 54305910 C G SNP UNC13C ENST00000260323 human ensembl 69_37n +1 known silent c.810 p.L270 0.992 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 61 0 0.00 37 9 19.57 - - - USH2A 0 genome.wustl.edu 37 1 216390820 216390820 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 216390820 216390820 G C SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.3066 p.F1022L 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 100 0 0.00 112 22 16.30 - - - UST 0 genome.wustl.edu 37 6 149395130 149395130 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 6 149395130 149395130 C T SNP UST ENST00000367463 human ensembl 69_37n +1 known missense c.1099 p.H367Y 0.051 NULL pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase - no_errors UST HGNC ENSG00000111962 134 0 0.00 108 13 10.74 - - - UTRN 0 genome.wustl.edu 37 6 145103087 145103087 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 6 145103087 145103087 G A SNP UTRN ENST00000367545 human ensembl 69_37n +1 known missense c.8662 p.E2888K 1.000 pfam_EF-hand_dom_typ1,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 142 0 0.00 126 20 13.70 - - - VPS13B 0 genome.wustl.edu 37 8 100729481 100729481 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 8 100729481 100729481 G A SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known silent c.6612 p.L2204 0.578 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 124 0 0.00 87 11 11.22 - - - VSTM4 0 genome.wustl.edu 37 10 50294048 50294048 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 10 50294048 50294048 C G SNP VSTM4 ENST00000332853 human ensembl 69_37n -1 known missense c.478 p.E160Q 0.981 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors VSTM4 HGNC ENSG00000165633 146 0 0.00 103 13 11.21 - - - WARS2 0 genome.wustl.edu 37 1 119683237 119683237 + Nonsense_Mutation SNP C C A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 119683237 119683237 C A SNP WARS2 ENST00000235521 human ensembl 69_37n -1 known nonsense c.31 p.E11* 0.929 NULL pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-synth,tigrfam_Trp-tRNA-synth - no_errors WARS2 HGNC ENSG00000116874 54 0 0.00 48 7 12.73 - - - WDR47 0 genome.wustl.edu 37 1 109554133 109554133 + Missense_Mutation SNP C C A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 109554133 109554133 C A SNP WDR47 ENST00000400794 human ensembl 69_37n -1 known missense c.556 p.D186Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 187 0 0.00 137 20 12.74 - - - YTHDF1 0 genome.wustl.edu 37 20 61835143 61835143 + Nonsense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 20 61835143 61835143 G C SNP YTHDF1 ENST00000370339 human ensembl 69_37n -1 known nonsense c.149 p.S50* 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 131 0 0.00 94 11 10.48 - - - ZCCHC17 0 genome.wustl.edu 37 1 31811816 31811816 + Nonsense_Mutation SNP A A T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 31811816 31811816 A T SNP ZCCHC17 ENST00000422613 human ensembl 69_37n +1 known nonsense c.166 p.R56* 1.000 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors ZCCHC17 HGNC ENSG00000121766 155 0 0.00 131 22 14.38 - - - ZDHHC17 0 genome.wustl.edu 37 12 77243248 77243248 + Missense_Mutation SNP C C G TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 12 77243248 77243248 C G SNP ZDHHC17 ENST00000334822 human ensembl 69_37n +1 known missense c.1758 p.F586L 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase,prints_Ankyrin_rpt - no_errors ZDHHC17 HGNC ENSG00000186908 125 0 0.00 73 9 10.98 - - - ZNF165 0 genome.wustl.edu 37 6 28056897 28056897 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 6 28056897 28056897 G C SNP ZNF165 ENST00000377325 human ensembl 69_37n +1 known missense c.1107 p.E369D 1.000 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF165 HGNC ENSG00000197279 83 0 0.00 62 7 10.14 - - - ZNF648 0 genome.wustl.edu 37 1 182025757 182025757 + Silent SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 1 182025757 182025757 G A SNP ZNF648 ENST00000339948 human ensembl 69_37n -1 known silent c.1389 p.L463 0.571 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 48 0 0.00 35 6 14.63 - - - ZNF662 0 genome.wustl.edu 37 3 42956022 42956022 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 3 42956022 42956022 G A SNP ZNF662 ENST00000328199 human ensembl 69_37n +1 known missense c.535 p.D179N 0.025 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 ZNF662 HGNC ENSG00000182983 147 0 0.00 104 14 11.86 - - - ZNF778 0 genome.wustl.edu 37 16 89293913 89293913 + Missense_Mutation SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7c27f81e-62fb-478c-9cee-8e20db9300f2 134d71cc-c1c7-40b7-9cc1-927b8f6f393d 16 89293913 89293913 C T SNP ZNF778 ENST00000433976 human ensembl 69_37n +1 known missense c.1133 p.S378L 0.001 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 ZNF778 HGNC ENSG00000170100 162 1 0.60 121 15 11.03 - - -