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 ABCA7 0 genome.wustl.edu 37 19 1053382 1053382 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 1053382 1053382 T G SNP ABCA7 ENST00000263094 human ensembl 69_37n +1 known missense c.3275 p.V1092G 0.997 NULL pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 45 0 0.00 8 11 57.89 - - - AKAP3 0 genome.wustl.edu 37 12 4736391 4736391 + Silent SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 12 4736391 4736391 A G SNP AKAP3 ENST00000228850 human ensembl 69_37n -1 known silent c.1677 p.F559 0.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 98 0 0.00 63 32 33.68 - - - ANKRD27 0 genome.wustl.edu 37 19 33098731 33098731 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 33098731 33098731 G C SNP ANKRD27 ENST00000306065 human ensembl 69_37n -1 known missense c.2183 p.A728G 0.167 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 72 0 0.00 18 22 55.00 - - - ANKRD30A 0 genome.wustl.edu 37 10 37486216 37486216 + Silent SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 10 37486216 37486216 C G SNP ANKRD30A ENST00000361713 human ensembl 69_37n +1 known silent c.2454 p.P818 0.011 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 607 0 0.00 378 347 47.73 - - - ANKRD30A 0 genome.wustl.edu 37 10 37486216 37486216 + Silent SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 10 37486216 37486216 C G SNP ANKRD30A ENST00000361713 human ensembl 69_37n +1 known silent c.2454 p.P818 0.011 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 67 0 0.00 378 347 47.73 - - - APH1A 0 genome.wustl.edu 37 1 150238892 150238892 + RNA SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 150238892 150238892 T G SNP APH1A ENST00000461320 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors APH1A HGNC ENSG00000117362 68 0 0.00 19 23 53.49 - - - APOBEC3H 0 genome.wustl.edu 37 22 39498014 39498014 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 22 39498014 39498014 T G SNP APOBEC3H ENST00000442487 human ensembl 69_37n +1 known missense c.510 p.S170R 0.000 pfam_APOBEC_C pfam_APOBEC_N,pfam_APOBEC_C,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors APOBEC3H HGNC ENSG00000100298 129 0 0.00 56 13 17.81 - - - ASB10 0 genome.wustl.edu 37 7 150884015 150884015 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 7 150884015 150884015 C G SNP ASB10 ENST00000422024 human ensembl 69_37n -1 known missense c.338 p.G113A 0.922 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB10 HGNC ENSG00000146926 90 0 0.00 26 21 44.68 - - - ASB9 0 genome.wustl.edu 37 X 15262576 15262576 + RNA SNP C C A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 X 15262576 15262576 C A SNP ASB9 ENST00000473862 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ASB9 HGNC ENSG00000102048 70 0 0.00 98 89 47.59 - - - ATG9B 0 genome.wustl.edu 37 7 150721193 150721193 + RNA SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 7 150721193 150721193 T G SNP ATG9B ENST00000377974 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ATG9B HGNC ENSG00000181652 44 0 0.00 25 21 45.65 - - - ATP8B3 0 genome.wustl.edu 37 19 1782989 1782989 + RNA SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 1782989 1782989 T G SNP ATP8B3 ENST00000546207 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ATP8B3 HGNC ENSG00000130270 44 0 0.00 50 49 49.00 - - - BARHL1 0 genome.wustl.edu 37 9 135458334 135458334 + Silent SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 9 135458334 135458334 G C SNP BARHL1 ENST00000263610 human ensembl 69_37n +1 known silent c.150 p.S50 0.932 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors BARHL1 HGNC ENSG00000125492 51 0 0.00 20 19 48.72 - - - BCAT2 0 genome.wustl.edu 37 19 49303276 49303276 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 49303276 49303276 T G SNP BCAT2 ENST00000316273 human ensembl 69_37n -1 known missense c.493 p.T165P 0.914 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 126 1 0.79 15 29 65.91 - - - BTNL8 0 genome.wustl.edu 37 5 180335598 180335598 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 5 180335598 180335598 T G SNP BTNL8 ENST00000340184 human ensembl 69_37n +1 known missense c.62 p.V21G 0.867 pfam_Ig_V-set pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTNL8 HGNC ENSG00000113303 40 0 0.00 50 71 56.80 - - - C11orf9 0 genome.wustl.edu 37 11 61544784 61544784 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 11 61544784 61544784 C G SNP C11orf9 ENST00000278836 human ensembl 69_37n +1 known missense c.1639 p.R547G 1.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors C11orf9 HGNC ENSG00000124920 78 0 0.00 21 11 34.38 - - - C15orf59 0 genome.wustl.edu 37 15 74032293 74032293 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 15 74032293 74032293 T G SNP C15orf59 ENST00000379822 human ensembl 69_37n -1 known missense c.847 p.T283P 0.995 NULL superfamily_Polyketide_synth_docking - no_errors C15orf59 HGNC ENSG00000205363 53 0 0.00 25 33 56.90 - - - C1orf123 0 genome.wustl.edu 37 1 53683750 53683750 + RNA SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 53683750 53683750 T G SNP C1orf123 ENST00000478839 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors C1orf123 HGNC ENSG00000162384 30 0 0.00 20 36 63.16 - - - C22orf13 0 genome.wustl.edu 37 22 24939827 24939827 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 22 24939827 24939827 T G SNP C22orf13 ENST00000407471 human ensembl 69_37n -1 known missense c.611 p.N204T 1.000 pfam_Guanylyl_cyclase pfam_Guanylyl_cyclase - no_errors C22orf13 HGNC ENSG00000138867 50 0 0.00 33 20 36.36 - - - C3orf18 0 genome.wustl.edu 37 3 50603097 50603097 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 3 50603097 50603097 A C SNP C3orf18 ENST00000357203 human ensembl 69_37n -1 known missense c.34 p.F12V 0.600 NULL NULL - no_errors C3orf18 HGNC ENSG00000088543 73 0 0.00 37 36 48.65 - - - C9orf142 0 genome.wustl.edu 37 9 139888352 139888352 + RNA SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 9 139888352 139888352 A C SNP C9orf142 ENST00000463765 human ensembl 69_37n +1 known rna NULL NULL 0.015 - - - no_errors C9orf142 HGNC ENSG00000148362 30 0 0.00 26 30 50.85 - - - CASZ1 0 genome.wustl.edu 37 1 10705025 10705025 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 10705025 10705025 C G SNP CASZ1 ENST00000377022 human ensembl 69_37n -1 known missense c.3817 p.A1273P 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 91 0 0.00 107 27 20.00 - - - CBX4 0 genome.wustl.edu 37 17 77809500 77809500 + Missense_Mutation SNP T T C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 17 77809500 77809500 T C SNP CBX4 ENST00000269397 human ensembl 69_37n -1 known missense c.191 p.E64G 1.000 superfamily_Chromodomain-like,pfscan_Chromo_domain/shadow pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow - no_errors CBX4 HGNC ENSG00000141582 148 1 0.67 65 32 32.32 - - - CCAR1 0 genome.wustl.edu 37 10 70496773 70496773 + Missense_Mutation SNP C C A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 10 70496773 70496773 C A SNP CCAR1 ENST00000265872 human ensembl 69_37n +1 known missense c.214 p.Q72K 1.000 NULL pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors CCAR1 HGNC ENSG00000060339 26 0 0.00 54 112 67.47 - - - CCDC112 0 genome.wustl.edu 37 5 114611288 114611288 + Silent SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 5 114611288 114611288 A G SNP CCDC112 ENST00000379611 human ensembl 69_37n -1 known silent c.543 p.I181 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC ENSG00000164221 93 0 0.00 60 30 33.33 - - - CCDC112 0 genome.wustl.edu 37 5 114611288 114611288 + Silent SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 5 114611288 114611288 A G SNP CCDC112 ENST00000379611 human ensembl 69_37n -1 known silent c.543 p.I181 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC ENSG00000164221 27 0 0.00 60 30 33.33 - - - CCDC78 0 genome.wustl.edu 37 16 772688 772688 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 16 772688 772688 C G SNP CCDC78 ENST00000345165 human ensembl 69_37n -1 putative missense c.949 p.A317P 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CCDC78 HGNC ENSG00000162004 34 0 0.00 46 19 29.23 - - - CCNF 0 genome.wustl.edu 37 16 2495482 2495482 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 16 2495482 2495482 T G SNP CCNF ENST00000397066 human ensembl 69_37n +1 known missense c.953 p.V318G 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors CCNF HGNC ENSG00000162063 86 0 0.00 38 46 54.76 - - - CENPB 0 genome.wustl.edu 37 20 3766022 3766022 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 20 3766022 3766022 G C SNP CENPB ENST00000379751 human ensembl 69_37n -1 known missense c.1109 p.A370G 0.949 pfam_DDE_SF_endonuclease_CENPB-like pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC ENSG00000125817 51 0 0.00 24 10 29.41 - - - CHD5 0 genome.wustl.edu 37 1 6185196 6185196 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 6185196 6185196 A C SNP CHD5 ENST00000262450 human ensembl 69_37n -1 known missense c.4358 p.V1453G 1.000 pfam_DUF1086 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 173 1 0.57 59 46 43.40 - - - CHRND 0 genome.wustl.edu 37 2 233393286 233393286 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 2 233393286 233393286 A C SNP CHRND ENST00000457943 human ensembl 69_37n +1 known missense c.158 p.H53P 0.140 NULL pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM - no_errors CHRND HGNC ENSG00000135902 64 0 0.00 236 57 19.39 - - - CHRND 0 genome.wustl.edu 37 2 233399890 233399890 + Frame_Shift_Del DEL G G - TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 2 233399890 233399890 G - DEL CHRND ENST00000258385 human ensembl 69_37n +1 known frame_shift_del c.1422 p.F475fs 0.991 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 193 0 0.00 133 58 29.44 - - - CHRND 0 genome.wustl.edu 37 2 233399890 233399890 + Frame_Shift_Del DEL G G - TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 2 233399890 233399890 G - DEL CHRND ENST00000258385 human ensembl 69_37n +1 known frame_shift_del c.1422 p.F475fs 0.991 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 78 0 0.00 133 58 29.44 - - - CLK2 0 genome.wustl.edu 37 1 155238508 155238508 + Missense_Mutation SNP G G T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 155238508 155238508 G T SNP CLK2 ENST00000368361 human ensembl 69_37n -1 known missense c.478 p.Q160K 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK2 HGNC ENSG00000176444 56 0 0.00 124 27 17.88 - - - COX10 0 genome.wustl.edu 37 17 14110451 14110451 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 17 14110451 14110451 A C SNP COX10 ENST00000261643 human ensembl 69_37n +1 known missense c.1253 p.H418P 1.000 pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase - no_errors COX10 HGNC ENSG00000006695 37 0 0.00 5 14 73.68 - - - CRBN 0 genome.wustl.edu 37 3 3221322 3221322 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 3 3221322 3221322 T G SNP CRBN ENST00000231948 human ensembl 69_37n -1 known missense c.50 p.H17P 1.000 NULL pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N - no_errors CRBN HGNC ENSG00000113851 107 1 0.93 18 26 57.78 - - - CRYBA2 0 genome.wustl.edu 37 2 219856873 219856873 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 2 219856873 219856873 C G SNP CRYBA2 ENST00000295728 human ensembl 69_37n -1 known missense c.254 p.S85T 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA2 HGNC ENSG00000163499 43 0 0.00 18 12 40.00 - - - DCAF8 0 genome.wustl.edu 37 1 160209535 160209535 + Silent SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 160209535 160209535 C G SNP DCAF8 ENST00000555195 human ensembl 69_37n -1 known silent c.1137 p.R379 0.927 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8 HGNC ENSG00000132716 72 0 0.00 24 17 40.48 - - - DNAH12 0 genome.wustl.edu 37 3 57414077 57414077 + Missense_Mutation SNP T T C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 3 57414077 57414077 T C SNP DNAH12 ENST00000351747 human ensembl 69_37n -1 known missense c.5282 p.Q1761R 0.012 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 46 0 0.00 23 8 25.81 - - - DNAH12 0 genome.wustl.edu 37 3 57414077 57414077 + Missense_Mutation SNP T T C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 3 57414077 57414077 T C SNP DNAH12 ENST00000351747 human ensembl 69_37n -1 known missense c.5282 p.Q1761R 0.012 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 50 0 0.00 23 8 25.81 - - - DNAH6 0 genome.wustl.edu 37 2 84838960 84838960 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 2 84838960 84838960 C G SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known missense c.3457 p.R1153G 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 25 0 0.00 36 72 66.67 - - - DNAJB2 0 genome.wustl.edu 37 2 220144582 220144582 + Silent SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 2 220144582 220144582 C T SNP DNAJB2 ENST00000336576 human ensembl 69_37n +1 known silent c.27 p.D9 0.984 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB2 HGNC ENSG00000135924 136 0 0.00 70 44 38.60 - - - DNAJB2 0 genome.wustl.edu 37 2 220144582 220144582 + Silent SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 2 220144582 220144582 C T SNP DNAJB2 ENST00000336576 human ensembl 69_37n +1 known silent c.27 p.D9 0.984 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB2 HGNC ENSG00000135924 46 0 0.00 70 44 38.60 - - - DNAJB4 0 genome.wustl.edu 37 1 78478782 78478782 + Missense_Mutation SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 78478782 78478782 C T SNP DNAJB4 ENST00000370763 human ensembl 69_37n +1 known missense c.259 p.R87W 1.000 NULL pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB4 HGNC ENSG00000162616 65 0 0.00 225 26 10.36 - - - DNTTIP2 0 genome.wustl.edu 37 1 94344542 94344542 + RNA SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 94344542 94344542 T G SNP DNTTIP2 ENST00000460191 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors DNTTIP2 HGNC ENSG00000067334 38 0 0.00 16 13 44.83 - - - DPAGT1 0 genome.wustl.edu 37 11 118972221 118972221 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 11 118972221 118972221 T G SNP DPAGT1 ENST00000354202 human ensembl 69_37n -1 known missense c.145 p.T49P 0.002 NULL pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC ENSG00000172269 64 0 0.00 46 11 19.30 - - - DSPP 0 genome.wustl.edu 37 4 88536880 88536880 + Silent SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 4 88536880 88536880 C T SNP DSPP ENST00000282478 human ensembl 69_37n +1 known silent c.3066 p.S1022 0.011 NULL NULL - no_errors DSPP HGNC ENSG00000152591 46 0 0.00 446 68 13.23 - - - DSPP 0 genome.wustl.edu 37 4 88536886 88536886 + Silent SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 4 88536886 88536886 C T SNP DSPP ENST00000282478 human ensembl 69_37n +1 known silent c.3072 p.S1024 0.076 NULL NULL - no_errors DSPP HGNC ENSG00000152591 45 0 0.00 378 111 22.70 - - - EML2 0 genome.wustl.edu 37 19 46137720 46137720 + Nonsense_Mutation SNP G G T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 46137720 46137720 G T SNP EML2 ENST00000587152 human ensembl 69_37n -1 known nonsense c.792 p.Y264* 1.000 pfam_HELP,superfamily_Quinonprotein_ADH-like pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 121 0 0.00 46 39 45.88 - - - ENSG00000256349 0 genome.wustl.edu 37 11 66288848 66288848 + Splice_Site SNP G G T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 11 66288848 66288848 G T SNP ENSG00000256349 ENST00000419755 human ensembl 69_37n +1 known splice_site c.941+1 e9+1 1.000 - - - no_errors CTD-3074O7.11 Clone_based_vega_gene ENSG00000256349 76 0 0.00 133 36 21.30 - - - EPHA8 0 genome.wustl.edu 37 1 22919888 22919888 + Missense_Mutation SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 22919888 22919888 A G SNP EPHA8 ENST00000166244 human ensembl 69_37n +1 known missense c.1385 p.E462G 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_type1,pfam_SAM_2,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 EPHA8 HGNC ENSG00000070886 110 1 0.89 15 11 42.31 - - - EXOC3L1 0 genome.wustl.edu 37 16 67218756 67218756 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 16 67218756 67218756 A C SNP EXOC3L1 ENST00000563889 human ensembl 69_37n -1 novel missense c.1660 p.W554G 0.003 pfam_Sec6 pfam_Sec6 - no_stop_codon EXOC3L1 HGNC ENSG00000179044 31 0 0.00 8 9 52.94 - - - EXOSC2 0 genome.wustl.edu 37 9 133569210 133569210 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 9 133569210 133569210 G C SNP EXOSC2 ENST00000372358 human ensembl 69_37n +1 known missense c.32 p.R11P 0.990 NULL superfamily_NA-bd_OB-fold-like - no_errors EXOSC2 HGNC ENSG00000130713 50 0 0.00 12 22 64.71 - - - FAM110C 0 genome.wustl.edu 37 2 45606 45606 + Silent SNP G G A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 2 45606 45606 G A SNP FAM110C ENST00000327669 human ensembl 69_37n -1 known silent c.780 p.F260 1.000 NULL NULL - no_errors FAM110C HGNC ENSG00000184731 89 0 0.00 16 14 46.67 - - - FAM129B 0 genome.wustl.edu 37 9 130287426 130287426 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 9 130287426 130287426 A C SNP FAM129B ENST00000373312 human ensembl 69_37n -1 known missense c.332 p.V111G 0.324 pfscan_Pleckstrin_homology pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 59 0 0.00 68 93 55.69 - - - FZD5 0 genome.wustl.edu 37 2 208633326 208633326 + Nonsense_Mutation SNP G G T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 2 208633326 208633326 G T SNP FZD5 ENST00000295417 human ensembl 69_37n -1 known nonsense c.138 p.Y46* 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 190 0 0.00 110 22 16.67 - - - GABRA6 0 genome.wustl.edu 37 5 161116743 161116743 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 5 161116743 161116743 A C SNP GABRA6 ENST00000274545 human ensembl 69_37n +1 known missense c.631 p.I211L 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 206 0 0.00 170 66 27.85 - - - GABRA6 0 genome.wustl.edu 37 5 161116743 161116743 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 5 161116743 161116743 A C SNP GABRA6 ENST00000274545 human ensembl 69_37n +1 known missense c.631 p.I211L 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 40 0 0.00 170 66 27.85 - - - GCDH 0 genome.wustl.edu 37 19 13002672 13002672 + Missense_Mutation SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 13002672 13002672 A G SNP GCDH ENST00000222214 human ensembl 69_37n +1 known missense c.155 p.D52G 1.000 superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors GCDH HGNC ENSG00000105607 51 0 0.00 26 22 44.90 - - - GDAP1L1 0 genome.wustl.edu 37 20 42893238 42893238 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 20 42893238 42893238 A C SNP GDAP1L1 ENST00000445952 human ensembl 69_37n +1 known missense c.638 p.H213P 0.121 NULL superfamily_Thioredoxin-like_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GDAP1L1 HGNC ENSG00000124194 46 0 0.00 28 43 60.56 - - - GIGYF2 0 genome.wustl.edu 37 2 233712266 233712266 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 2 233712266 233712266 G C SNP GIGYF2 ENST00000373566 human ensembl 69_37n +1 known missense c.3735 p.Q1245H 0.053 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 61 0 0.00 12 24 66.67 - - - GLI2 0 genome.wustl.edu 37 2 121747071 121747071 + Missense_Mutation SNP G G A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 2 121747071 121747071 G A SNP GLI2 ENST00000361492 human ensembl 69_37n +1 known missense c.3581 p.S1194N 0.039 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 24 0 0.00 5 5 50.00 - - - GMIP 0 genome.wustl.edu 37 19 19741085 19741085 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 19741085 19741085 C G SNP GMIP ENST00000203556 human ensembl 69_37n -1 known missense c.2600 p.R867P 1.000 NULL pfam_RhoGAP_dom,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 GMIP HGNC ENSG00000089639 58 0 0.00 34 35 50.72 - - - GOLGA2P5 0 genome.wustl.edu 37 12 100559710 100559710 + RNA SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 12 100559710 100559710 T G SNP GOLGA2P5 ENST00000421840 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors GOLGA2P5 HGNC ENSG00000238105 61 0 0.00 25 17 39.53 - - - GPAM 0 genome.wustl.edu 37 10 113932823 113932823 + Missense_Mutation SNP G G T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 10 113932823 113932823 G T SNP GPAM ENST00000348367 human ensembl 69_37n -1 known missense c.562 p.L188M 1.000 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors GPAM HGNC ENSG00000119927 59 0 0.00 324 39 10.74 - - - GPRIN2 0 genome.wustl.edu 37 10 46999178 46999178 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 10 46999178 46999178 A C SNP GPRIN2 ENST00000374314 human ensembl 69_37n +1 known missense c.298 p.T100P 0.084 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 11 0 0.00 13 7 35.00 - - - GPS2 0 genome.wustl.edu 37 17 7217236 7217236 + Frame_Shift_Del DEL G G - TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 17 7217236 7217236 G - DEL GPS2 ENST00000380728 human ensembl 69_37n -1 known frame_shift_del c.469 p.Q157fs 0.996 NULL NULL - no_errors GPS2 HGNC ENSG00000132522 199 0 0.00 139 22 13.50 - - - GRM3 0 genome.wustl.edu 37 7 86493622 86493622 + Missense_Mutation SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 7 86493622 86493622 C T SNP GRM3 ENST00000361669 human ensembl 69_37n +1 known missense c.2591 p.T864M 1.000 prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt_2 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C - no_errors GRM3 HGNC ENSG00000198822 615 1 0.16 730 234 24.27 - - - GRM3 0 genome.wustl.edu 37 7 86493622 86493622 + Missense_Mutation SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 7 86493622 86493622 C T SNP GRM3 ENST00000361669 human ensembl 69_37n +1 known missense c.2591 p.T864M 1.000 prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt_2 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C - no_errors GRM3 HGNC ENSG00000198822 68 0 0.00 730 234 24.27 - - - GUCY2F 0 genome.wustl.edu 37 X 108696999 108696999 + Silent SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 X 108696999 108696999 A C SNP GUCY2F ENST00000218006 human ensembl 69_37n -1 known silent c.1122 p.G374 0.999 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 61 0 0.00 103 69 39.66 - - - HADH 0 genome.wustl.edu 37 4 108955557 108955557 + RNA SNP T T C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 4 108955557 108955557 T C SNP HADH ENST00000510728 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors HADH HGNC ENSG00000138796 43 0 0.00 87 30 25.64 - - - HARS 0 genome.wustl.edu 37 5 140058630 140058630 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 5 140058630 140058630 T G SNP HARS ENST00000504156 human ensembl 69_37n -1 known missense c.479 p.N160T 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_His-tRNA_synth_IIA,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-synth_IIa_subgr pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_His-tRNA_synth_IIA,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-synth_IIa_subgr - no_errors HARS HGNC ENSG00000170445 107 0 0.00 188 102 35.05 - - - HAVCR1 0 genome.wustl.edu 37 5 156482504 156482504 + Silent SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 5 156482504 156482504 A C SNP HAVCR1 ENST00000425854 human ensembl 69_37n -1 known silent c.87 p.G29 0.186 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors HAVCR1 HGNC ENSG00000113249 37 0 0.00 27 79 73.15 - - - HCFC1 0 genome.wustl.edu 37 X 153220423 153220423 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 X 153220423 153220423 T G SNP HCFC1 ENST00000310441 human ensembl 69_37n -1 known missense c.3427 p.T1143P 0.004 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 110 1 0.89 57 48 44.04 - - - HCFC1 0 genome.wustl.edu 37 X 153220495 153220495 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 X 153220495 153220495 T G SNP HCFC1 ENST00000310441 human ensembl 69_37n -1 known missense c.3355 p.T1119P 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 175 0 0.00 108 51 31.48 - - - HDDC2 0 genome.wustl.edu 37 6 125598352 125598352 + Missense_Mutation SNP A A T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 6 125598352 125598352 A T SNP HDDC2 ENST00000398153 human ensembl 69_37n -1 known missense c.413 p.F138Y 0.997 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,smart_HD/PDEase_dom - no_errors HDDC2 HGNC ENSG00000111906 454 0 0.00 423 144 25.40 - - - HDDC2 0 genome.wustl.edu 37 6 125598352 125598352 + Missense_Mutation SNP A A T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 6 125598352 125598352 A T SNP HDDC2 ENST00000398153 human ensembl 69_37n -1 known missense c.413 p.F138Y 0.997 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,smart_HD/PDEase_dom - no_errors HDDC2 HGNC ENSG00000111906 80 0 0.00 423 144 25.40 - - - HK2 0 genome.wustl.edu 37 2 75105930 75105930 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 2 75105930 75105930 G C SNP HK2 ENST00000290573 human ensembl 69_37n +1 known missense c.1147 p.A383P 0.997 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 45 0 0.00 10 12 54.55 - - - IGFL3 0 genome.wustl.edu 37 19 46627331 46627331 + Silent SNP G G A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 19 46627331 46627331 G A SNP IGFL3 ENST00000341415 human ensembl 69_37n -1 known silent c.162 p.C54 0.022 NULL NULL - no_errors IGFL3 HGNC ENSG00000188624 100 0 0.00 86 25 22.52 - - - IGFL3 0 genome.wustl.edu 37 19 46627331 46627331 + Silent SNP G G A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 46627331 46627331 G A SNP IGFL3 ENST00000341415 human ensembl 69_37n -1 known silent c.162 p.C54 0.022 NULL NULL - no_errors IGFL3 HGNC ENSG00000188624 31 0 0.00 86 25 22.52 - - - IGHE 0 genome.wustl.edu 37 14 106067816 106067816 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 14 106067816 106067816 T G SNP IGHE ENST00000390541 human ensembl 69_37n -1 known missense c.250 p.T84P 0.992 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon IGHE HGNC ENSG00000211891 102 0 0.00 162 72 30.64 - - - IRF3 0 genome.wustl.edu 37 19 50165501 50165501 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 50165501 50165501 A C SNP IRF3 ENST00000309877 human ensembl 69_37n -1 known missense c.686 p.V229G 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF3 HGNC ENSG00000126456 75 0 0.00 26 13 33.33 - - - KCNJ2 0 genome.wustl.edu 37 17 68171472 68171472 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 17 68171472 68171472 T G SNP KCNJ2 ENST00000243457 human ensembl 69_37n +1 known missense c.292 p.F98V 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 199 0 0.00 130 19 12.75 - - - KCNQ4 0 genome.wustl.edu 37 1 41296813 41296813 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 41296813 41296813 T G SNP KCNQ4 ENST00000443478 human ensembl 69_37n +1 novel missense c.931 p.S311A 0.676 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KCNQ4 HGNC ENSG00000117013 59 0 0.00 20 16 43.24 - - - KDM2A 0 genome.wustl.edu 37 11 66985085 66985085 + RNA SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 11 66985085 66985085 A G SNP KDM2A ENST00000525379 human ensembl 69_37n +1 putative rna NULL NULL 0.082 - - - no_errors KDM2A HGNC ENSG00000173120 29 0 0.00 35 31 45.59 - - - KLHL1 0 genome.wustl.edu 37 13 70281929 70281929 + Splice_Site SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 13 70281929 70281929 C T SNP KLHL1 ENST00000377844 human ensembl 69_37n -1 known splice_site c.2016-1 e10-1 1.000 - - - no_errors KLHL1 HGNC ENSG00000150361 239 0 0.00 297 62 17.27 - - - KLHL1 0 genome.wustl.edu 37 13 70281929 70281929 + Splice_Site SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 13 70281929 70281929 C T SNP KLHL1 ENST00000377844 human ensembl 69_37n -1 known splice_site c.2016-1 e10-1 1.000 - - - no_errors KLHL1 HGNC ENSG00000150361 36 0 0.00 297 62 17.27 - - - LCN12 0 genome.wustl.edu 37 9 139847492 139847492 + RNA SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 9 139847492 139847492 T G SNP LCN12 ENST00000484304 human ensembl 69_37n +1 known rna NULL NULL 0.013 - - - no_errors LCN12 HGNC ENSG00000184925 117 1 0.80 24 51 48.11 - - - LEFTY2 0 genome.wustl.edu 37 1 226125151 226125151 + Missense_Mutation SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 226125151 226125151 A G SNP LEFTY2 ENST00000366820 human ensembl 69_37n -1 known missense c.1091 p.L364P 0.004 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY2 HGNC ENSG00000143768 40 0 0.00 16 13 44.83 - - - LPO 0 genome.wustl.edu 37 17 56332273 56332273 + Nonsense_Mutation SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 17 56332273 56332273 C T SNP LPO ENST00000262290 human ensembl 69_37n +1 known nonsense c.1207 p.Q403* 0.377 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 165 0 0.00 137 18 11.61 - - - LPO 0 genome.wustl.edu 37 17 56332273 56332273 + Nonsense_Mutation SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 17 56332273 56332273 C T SNP LPO ENST00000262290 human ensembl 69_37n +1 known nonsense c.1207 p.Q403* 0.377 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 62 0 0.00 137 18 11.61 - - - LRRC25 0 genome.wustl.edu 37 19 18507105 18507105 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 18507105 18507105 G C SNP LRRC25 ENST00000339007 human ensembl 69_37n -1 known missense c.669 p.S223R 0.897 NULL NULL - no_errors LRRC25 HGNC ENSG00000175489 79 0 0.00 20 32 60.38 - - - LTBP3 0 genome.wustl.edu 37 11 65315445 65315445 + Missense_Mutation SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 11 65315445 65315445 A G SNP LTBP3 ENST00000301873 human ensembl 69_37n -1 known missense c.1792 p.S598P 1.000 smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 93 0 0.00 25 19 43.18 - - - LYNX1 0 genome.wustl.edu 37 8 143846046 143846046 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 8 143846046 143846046 T G SNP LYNX1 ENST00000335822 human ensembl 69_37n -1 known missense c.373 p.T125P 0.981 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors LYNX1 HGNC ENSG00000180155 115 0 0.00 29 45 60.81 - - - MRGPRX2 0 genome.wustl.edu 37 11 19077074 19077074 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 11 19077074 19077074 C G SNP MRGPRX2 ENST00000329773 human ensembl 69_37n -1 known missense c.876 p.Q292H 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MRGPRX2 HGNC ENSG00000183695 33 0 0.00 35 45 56.25 - - - MUC6 0 genome.wustl.edu 37 11 1024858 1024858 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 11 1024858 1024858 T G SNP MUC6 ENST00000421673 human ensembl 69_37n -1 known missense c.3211 p.T1071P 0.168 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 32 0 0.00 4 11 68.75 - - - MYBPC2 0 genome.wustl.edu 37 19 50957613 50957613 + Silent SNP G G A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 50957613 50957613 G A SNP MYBPC2 ENST00000357701 human ensembl 69_37n +1 known silent c.2001 p.G667 0.993 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 121 0 0.00 31 9 21.43 - - - MYBPH 0 genome.wustl.edu 37 1 203144709 203144709 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 203144709 203144709 T G SNP MYBPH ENST00000255416 human ensembl 69_37n -1 known missense c.175 p.T59P 0.011 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPH HGNC ENSG00000133055 118 1 0.83 44 34 43.59 - - - MYF5 0 genome.wustl.edu 37 12 81111101 81111101 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 12 81111101 81111101 G C SNP MYF5 ENST00000228644 human ensembl 69_37n +1 known missense c.259 p.A87P 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_Basic,pfscan_HLH_DNA-bd pfam_Basic,pfam_Myf5,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_Basic,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors MYF5 HGNC ENSG00000111049 79 0 0.00 19 11 36.67 - - - NCF4 0 genome.wustl.edu 37 22 37260160 37260160 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 22 37260160 37260160 A C SNP NCF4 ENST00000397147 human ensembl 69_37n +1 known missense c.106 p.T36P 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,prints_NCF_P40,prints_p67phox,pfscan_Phox,pfscan_SH3_domain - no_errors NCF4 HGNC ENSG00000100365 58 0 0.00 19 46 70.77 - - - NDST1 0 genome.wustl.edu 37 5 149915315 149915315 + Silent SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 5 149915315 149915315 C T SNP NDST1 ENST00000261797 human ensembl 69_37n +1 known silent c.1305 p.G435 0.923 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST1 HGNC ENSG00000070614 50 0 0.00 51 21 29.17 - - - NFKBIE 0 genome.wustl.edu 37 6 44232797 44232797 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 6 44232797 44232797 C G SNP NFKBIE ENST00000275015 human ensembl 69_37n -1 known missense c.704 p.R235P 0.005 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIE HGNC ENSG00000146232 102 0 0.00 26 18 40.91 - - - NHS 0 genome.wustl.edu 37 X 17705940 17705940 + Missense_Mutation SNP T T C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 X 17705940 17705940 T C SNP NHS ENST00000380060 human ensembl 69_37n +1 known missense c.644 p.L215P 0.994 NULL NULL - no_errors NHS HGNC ENSG00000188158 249 2 0.79 61 37 36.63 - - - NID1 0 genome.wustl.edu 37 1 236141220 236141220 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 236141220 236141220 T G SNP NID1 ENST00000264187 human ensembl 69_37n -1 known missense c.3691 p.T1231P 1.000 smart_EGF-like pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 57 0 0.00 50 71 58.20 - - - NOTCH3 0 genome.wustl.edu 37 19 15276624 15276624 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 15276624 15276624 T G SNP NOTCH3 ENST00000263388 human ensembl 69_37n -1 known missense c.5641 p.T1881P 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 65 0 0.00 15 19 55.88 - - - NOTCH3 0 genome.wustl.edu 37 19 15291055 15291055 + Missense_Mutation SNP T T C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 15291055 15291055 T C SNP NOTCH3 ENST00000263388 human ensembl 69_37n -1 known missense c.3155 p.E1052G 0.762 smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 162 0 0.00 10 15 60.00 - - - NR1D1 0 genome.wustl.edu 37 17 38253621 38253621 + Missense_Mutation SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 17 38253621 38253621 A G SNP NR1D1 ENST00000246672 human ensembl 69_37n -1 known missense c.67 p.S23P 0.999 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 54 0 0.00 144 111 43.36 - - - NUMBL 0 genome.wustl.edu 37 19 41173889 41173889 + Silent SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 41173889 41173889 C T SNP NUMBL ENST00000252891 human ensembl 69_37n -1 known silent c.1314 p.Q438 1.000 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom - no_errors NUMBL HGNC ENSG00000105245 25 0 0.00 8 4 33.33 - - - O3FAR1 0 genome.wustl.edu 37 10 95326590 95326590 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 10 95326590 95326590 T G SNP O3FAR1 ENST00000371483 human ensembl 69_37n +1 known missense c.113 p.V38G 0.967 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors O3FAR1 HGNC ENSG00000186188 214 0 0.00 15 14 48.28 - - - OAF 0 genome.wustl.edu 37 11 120099649 120099649 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 11 120099649 120099649 T G SNP OAF ENST00000328965 human ensembl 69_37n +1 known missense c.620 p.V207G 0.003 NULL NULL - no_errors OAF HGNC ENSG00000184232 68 0 0.00 13 6 31.58 - - - OBSCN 0 genome.wustl.edu 37 1 228402101 228402101 + Silent SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 228402101 228402101 C G SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known silent c.1485 p.G495 0.892 superfamily_Fibronectin_type3,smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 147 0 0.00 40 14 25.93 - - - OR2D2 0 genome.wustl.edu 37 11 6912828 6912828 + Missense_Mutation SNP C C A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 11 6912828 6912828 C A SNP OR2D2 ENST00000299459 human ensembl 69_37n -1 known missense c.904 p.V302L 0.592 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2D2 HGNC ENSG00000166368 62 0 0.00 125 67 34.72 - - - PABPC3 0 genome.wustl.edu 37 13 25671062 25671062 + Silent SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 13 25671062 25671062 A G SNP PABPC3 ENST00000281589 human ensembl 69_37n +1 known silent c.726 p.E242 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 40 0 0.00 504 105 17.24 - - - PABPC3 0 genome.wustl.edu 37 13 25671089 25671089 + Missense_Mutation SNP G G T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 13 25671089 25671089 G T SNP PABPC3 ENST00000281589 human ensembl 69_37n +1 known missense c.753 p.M251I 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 46 0 0.00 628 96 13.26 - - - PANK4 0 genome.wustl.edu 37 1 2453125 2453125 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 2453125 2453125 C G SNP PANK4 ENST00000502770 human ensembl 69_37n -1 known missense c.380 p.G127A 0.000 NULL NULL - no_errors PANK4 HGNC ENSG00000157881 92 0 0.00 75 18 19.35 - - - PARVG 0 genome.wustl.edu 37 22 44585003 44585003 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 22 44585003 44585003 C G SNP PARVG ENST00000415224 human ensembl 69_37n +1 known missense c.257 p.A86G 0.189 pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVG HGNC ENSG00000138964 65 0 0.00 22 33 60.00 - - - PCNT 0 genome.wustl.edu 37 21 47817989 47817989 + Missense_Mutation SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 21 47817989 47817989 A G SNP PCNT ENST00000359568 human ensembl 69_37n +1 known missense c.4508 p.E1503G 1.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 62 0 0.00 90 62 40.26 - - - PDZD7 0 genome.wustl.edu 37 10 102789826 102789826 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 10 102789826 102789826 G C SNP PDZD7 ENST00000370215 human ensembl 69_37n -1 known missense c.151 p.L51V 0.993 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 157 0 0.00 36 13 26.53 - - - PFKM 0 genome.wustl.edu 37 12 48526792 48526792 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 12 48526792 48526792 A C SNP PFKM ENST00000312352 human ensembl 69_37n +1 known missense c.379 p.T127P 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKM HGNC ENSG00000152556 60 0 0.00 112 31 21.68 - - - PICK1 0 genome.wustl.edu 37 22 38465067 38465067 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 22 38465067 38465067 T G SNP PICK1 ENST00000356976 human ensembl 69_37n +1 known missense c.377 p.V126G 1.000 pfam_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfam_PDZ,pfam_BAR_dom,superfamily_PDZ,smart_PDZ,pfscan_Arfaptin_homology_dom,pfscan_PDZ - no_errors PICK1 HGNC ENSG00000100151 101 0 0.00 30 25 45.45 - - - PIGZ 0 genome.wustl.edu 37 3 196674232 196674232 + Silent SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 3 196674232 196674232 A C SNP PIGZ ENST00000412723 human ensembl 69_37n -1 known silent c.1536 p.G512 0.000 NULL pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 34 0 0.00 49 35 40.70 - - - PKD1 0 genome.wustl.edu 37 16 2152597 2152597 + Missense_Mutation SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 16 2152597 2152597 A G SNP PKD1 ENST00000262304 human ensembl 69_37n -1 known missense c.8986 p.S2996P 1.000 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,prints_PKD_1,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 122 0 0.00 50 23 31.51 - - - PLCXD1 0 genome.wustl.edu 37 X 208197 208197 + Missense_Mutation SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 X 208197 208197 A G SNP PLCXD1 ENST00000381657 human ensembl 69_37n +1 known missense c.425 p.E142G 0.541 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 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 - no_errors PLCXD1 HGNC ENSG00000182378 102 1 0.97 70 108 60.67 - - - PNMT 0 genome.wustl.edu 37 17 37826537 37826537 + Nonsense_Mutation SNP C C A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 17 37826537 37826537 C A SNP PNMT ENST00000269582 human ensembl 69_37n +1 known nonsense c.744 p.Y248* 0.069 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors PNMT HGNC ENSG00000141744 105 1 0.93 15 7 31.82 - - - POLG 0 genome.wustl.edu 37 15 89873481 89873481 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 15 89873481 89873481 A C SNP POLG ENST00000268124 human ensembl 69_37n -1 known missense c.686 p.V229G 1.000 pirsf_DNA-dir_DNA_pol_A_mt_sub,superfamily_RNaseH-like_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 63 0 0.00 12 14 53.85 - - - POU2F1 0 genome.wustl.edu 37 1 167343435 167343435 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 167343435 167343435 G C SNP POU2F1 ENST00000367866 human ensembl 69_37n +1 known missense c.493 p.A165P 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC ENSG00000143190 29 0 0.00 23 24 51.06 - - - PPARGC1B 0 genome.wustl.edu 37 5 149216613 149216613 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 5 149216613 149216613 A C SNP PPARGC1B ENST00000434684 human ensembl 69_37n +1 putative missense c.1654 p.T552P 0.956 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PPARGC1B HGNC ENSG00000155846 60 0 0.00 25 21 45.65 - - - PRRC2B 0 genome.wustl.edu 37 9 134353170 134353170 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 9 134353170 134353170 C G SNP PRRC2B ENST00000357304 human ensembl 69_37n +1 known missense c.4446 p.C1482W 0.168 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 51 0 0.00 27 30 52.63 - - - RABAC1 0 genome.wustl.edu 37 19 42463050 42463050 + Missense_Mutation SNP T T C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 42463050 42463050 T C SNP RABAC1 ENST00000222008 human ensembl 69_37n -1 known missense c.107 p.E36G 1.000 pfam_Prenylated_rab_accept_PRA1 pfam_Prenylated_rab_accept_PRA1 - no_errors RABAC1 HGNC ENSG00000105404 67 0 0.00 6 14 70.00 - - - RPH3A 0 genome.wustl.edu 37 12 113307580 113307580 + Silent SNP G G A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 12 113307580 113307580 G A SNP RPH3A ENST00000389385 human ensembl 69_37n +1 known silent c.627 p.R209 1.000 NULL pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RPH3A HGNC ENSG00000089169 304 1 0.33 227 105 31.63 - - - RPH3A 0 genome.wustl.edu 37 12 113307580 113307580 + Silent SNP G G A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 12 113307580 113307580 G A SNP RPH3A ENST00000389385 human ensembl 69_37n +1 known silent c.627 p.R209 1.000 NULL pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RPH3A HGNC ENSG00000089169 40 0 0.00 227 105 31.63 - - - RPLP0 0 genome.wustl.edu 37 12 120634697 120634697 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 12 120634697 120634697 G C SNP RPLP0 ENST00000228306 human ensembl 69_37n -1 known missense c.833 p.A278G 1.000 pfam_Ribosomal_60S pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_60S - no_errors RPLP0 HGNC ENSG00000089157 76 0 0.00 8 37 82.22 - - - RPLP0P2 0 genome.wustl.edu 37 11 61404984 61404984 + RNA SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 11 61404984 61404984 C G SNP RPLP0P2 ENST00000496593 human ensembl 69_37n +1 known rna NULL NULL 0.907 - - - no_errors RPLP0P2 HGNC ENSG00000243742 73 0 0.00 33 20 37.74 - - - RRBP1 0 genome.wustl.edu 37 20 17640580 17640580 + Silent SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 20 17640580 17640580 T G SNP RRBP1 ENST00000246043 human ensembl 69_37n -1 known silent c.573 p.T191 0.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 72 0 0.00 25 74 74.00 - - - RRP1 0 genome.wustl.edu 37 21 45223490 45223490 + Silent SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 21 45223490 45223490 T G SNP RRP1 ENST00000497547 human ensembl 69_37n +1 known silent c.1221 p.G407 0.000 NULL pfam_Nop52 - no_errors RRP1 HGNC ENSG00000160214 60 0 0.00 14 9 39.13 - - - RUNX3 0 genome.wustl.edu 37 1 25228963 25228963 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 25228963 25228963 T G SNP RUNX3 ENST00000338888 human ensembl 69_37n -1 known missense c.940 p.T314P 0.988 pirsf_TF_Runt-rel_RUNX pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N - no_errors RUNX3 HGNC ENSG00000020633 31 0 0.00 9 14 60.87 - - - RXFP3 0 genome.wustl.edu 37 5 33937028 33937028 + Silent SNP G G A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 5 33937028 33937028 G A SNP RXFP3 ENST00000330120 human ensembl 69_37n +1 known silent c.183 p.P61 0.875 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt - no_errors RXFP3 HGNC ENSG00000182631 37 0 0.00 62 27 30.34 - - - RYR3 0 genome.wustl.edu 37 15 33923486 33923486 + Silent SNP G G T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 15 33923486 33923486 G T SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known silent c.2859 p.L953 0.982 NULL 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 373 0 0.00 319 114 26.21 - - - RYR3 0 genome.wustl.edu 37 15 33923486 33923486 + Silent SNP G G T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 15 33923486 33923486 G T SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known silent c.2859 p.L953 0.982 NULL 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 35 0 0.00 319 114 26.21 - - - SEC14L1 0 genome.wustl.edu 37 17 75210067 75210067 + Missense_Mutation SNP T T C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 17 75210067 75210067 T C SNP SEC14L1 ENST00000392476 human ensembl 69_37n +1 known missense c.2110 p.S704P 1.000 NULL pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 142 1 0.70 34 21 38.18 - - - SELL 0 genome.wustl.edu 37 1 169677594 169677594 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 169677594 169677594 C G SNP SELL ENST00000236147 human ensembl 69_37n -1 known missense c.475 p.A159P 0.000 pirsf_L-selectin,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pirsf_L-selectin,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EGF-like,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 128 0 0.00 100 62 38.27 - - - SEMA3F 0 genome.wustl.edu 37 3 50224126 50224126 + Missense_Mutation SNP C C A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 3 50224126 50224126 C A SNP SEMA3F ENST00000002829 human ensembl 69_37n +1 known missense c.1894 p.Q632K 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3F HGNC ENSG00000001617 74 0 0.00 40 19 32.20 - - - SEMA7A 0 genome.wustl.edu 37 15 74703050 74703050 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 15 74703050 74703050 T G SNP SEMA7A ENST00000261918 human ensembl 69_37n -1 known missense c.1916 p.H639P 0.086 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA7A HGNC ENSG00000138623 116 1 0.84 21 18 43.90 - - - SHISA7 0 genome.wustl.edu 37 19 55953908 55953908 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 55953908 55953908 C G SNP SHISA7 ENST00000376325 human ensembl 69_37n -1 known missense c.323 p.G108A 1.000 NULL NULL - no_errors SHISA7 HGNC ENSG00000187902 58 0 0.00 4 16 80.00 - - - SHKBP1 0 genome.wustl.edu 37 19 41092756 41092756 + Missense_Mutation SNP G G T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 19 41092756 41092756 G T SNP SHKBP1 ENST00000291842 human ensembl 69_37n +1 known missense c.1242 p.E414D 1.000 superfamily_WD40_repeat_dom pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors SHKBP1 HGNC ENSG00000160410 78 0 0.00 54 27 33.33 - - - SHKBP1 0 genome.wustl.edu 37 19 41092756 41092756 + Missense_Mutation SNP G G T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 41092756 41092756 G T SNP SHKBP1 ENST00000291842 human ensembl 69_37n +1 known missense c.1242 p.E414D 1.000 superfamily_WD40_repeat_dom pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors SHKBP1 HGNC ENSG00000160410 38 0 0.00 54 27 33.33 - - - SIGLEC5 0 genome.wustl.edu 37 19 52131147 52131147 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 52131147 52131147 T G SNP SIGLEC5 ENST00000222107 human ensembl 69_37n -1 known missense c.937 p.T313P 0.885 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC5 HGNC ENSG00000105501 77 0 0.00 66 29 30.21 - - - SIGLEC6 0 genome.wustl.edu 37 19 52023268 52023268 + RNA SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 52023268 52023268 C G SNP SIGLEC6 ENST00000474054 human ensembl 69_37n -1 known rna NULL NULL 0.037 - - - no_errors SIGLEC6 HGNC ENSG00000105492 106 0 0.00 63 15 19.23 - - - SLC12A3 0 genome.wustl.edu 37 16 56913108 56913108 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 16 56913108 56913108 G C SNP SLC12A3 ENST00000438926 human ensembl 69_37n +1 known missense c.1304 p.S435T 0.243 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 75 0 0.00 9 14 60.87 - - - SLC35A2 0 genome.wustl.edu 37 X 48762371 48762371 + Missense_Mutation SNP C C A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 X 48762371 48762371 C A SNP SLC35A2 ENST00000452555 human ensembl 69_37n -1 known missense c.899 p.W300L 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A2 HGNC ENSG00000102100 63 0 0.00 53 32 37.65 - - - SLC35A2 0 genome.wustl.edu 37 X 48762371 48762371 + Missense_Mutation SNP C C A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 X 48762371 48762371 C A SNP SLC35A2 ENST00000452555 human ensembl 69_37n -1 known missense c.899 p.W300L 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A2 HGNC ENSG00000102100 49 0 0.00 53 32 37.65 - - - SLC38A10 0 genome.wustl.edu 37 17 79220018 79220018 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 17 79220018 79220018 C G SNP SLC38A10 ENST00000374759 human ensembl 69_37n -1 known missense c.2698 p.A900P 0.003 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 276 0 0.00 19 15 44.12 - - - SLIT3 0 genome.wustl.edu 37 5 168199899 168199899 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 5 168199899 168199899 G C SNP SLIT3 ENST00000519560 human ensembl 69_37n -1 known missense c.1346 p.A449G 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C pfam_EGF-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 161 0 0.00 29 19 38.78 - - - SPAG8 0 genome.wustl.edu 37 9 35809551 35809551 + RNA SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 9 35809551 35809551 A C SNP SPAG8 ENST00000489063 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SPAG8 HGNC ENSG00000137098 71 0 0.00 65 65 50.00 - - - SPATA21 0 genome.wustl.edu 37 1 16748588 16748588 + RNA SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 16748588 16748588 C T SNP SPATA21 ENST00000466212 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SPATA21 HGNC ENSG00000187144 31 0 0.00 55 26 32.10 - - - SPATC1 0 genome.wustl.edu 37 8 145096163 145096163 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 8 145096163 145096163 T G SNP SPATC1 ENST00000377470 human ensembl 69_37n +1 known missense c.1337 p.V446G 1.000 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 55 0 0.00 32 34 50.75 - - - SPTBN5 0 genome.wustl.edu 37 15 42172431 42172431 + Missense_Mutation SNP T T C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 15 42172431 42172431 T C SNP SPTBN5 ENST00000320955 human ensembl 69_37n -1 known missense c.2738 p.E913G 0.648 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 48 0 0.00 24 34 58.62 - - - SRC 0 genome.wustl.edu 37 20 36022255 36022255 + RNA SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 20 36022255 36022255 A G SNP SRC ENST00000489153 human ensembl 69_37n +1 putative rna NULL NULL 0.004 - - - no_errors SRC HGNC ENSG00000197122 99 0 0.00 21 21 48.84 - - - SRCAP 0 genome.wustl.edu 37 16 30731617 30731617 + Silent SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 16 30731617 30731617 A C SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known silent c.2952 p.P984 0.995 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 48 0 0.00 69 28 28.57 - - - SREBF2 0 genome.wustl.edu 37 22 42276902 42276902 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 22 42276902 42276902 G C SNP SREBF2 ENST00000424354 human ensembl 69_37n +1 known missense c.2044 p.A682P 0.003 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors SREBF2 HGNC ENSG00000198911 82 0 0.00 1 6 85.71 - - - SUSD3 0 genome.wustl.edu 37 9 95847083 95847083 + RNA SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 9 95847083 95847083 A C SNP SUSD3 ENST00000471462 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SUSD3 HGNC ENSG00000157303 39 0 0.00 9 18 64.29 - - - SYP 0 genome.wustl.edu 37 X 49050648 49050648 + Missense_Mutation SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 X 49050648 49050648 C T SNP SYP ENST00000263233 human ensembl 69_37n -1 known missense c.398 p.R133Q 1.000 pfam_MARVEL-like_dom pfam_MARVEL-like_dom,prints_Synaptophysin/porin - no_errors SYP HGNC ENSG00000102003 379 1 0.26 239 101 29.62 - - - SYP 0 genome.wustl.edu 37 X 49050648 49050648 + Missense_Mutation SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 X 49050648 49050648 C T SNP SYP ENST00000263233 human ensembl 69_37n -1 known missense c.398 p.R133Q 1.000 pfam_MARVEL-like_dom pfam_MARVEL-like_dom,prints_Synaptophysin/porin - no_errors SYP HGNC ENSG00000102003 68 0 0.00 239 101 29.62 - - - TCIRG1 0 genome.wustl.edu 37 11 67817893 67817893 + Splice_Site SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 11 67817893 67817893 T G SNP TCIRG1 ENST00000530802 human ensembl 69_37n +1 known splice_site c.NULL NULL 0.001 - - - no_errors TCIRG1 HGNC ENSG00000110719 85 0 0.00 36 26 41.94 - - - TECTA 0 genome.wustl.edu 37 11 121000388 121000388 + Silent SNP G G A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 11 121000388 121000388 G A SNP TECTA ENST00000264037 human ensembl 69_37n +1 known silent c.2409 p.S803 0.975 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors TECTA HGNC ENSG00000109927 408 2 0.49 316 160 33.54 - - - TECTA 0 genome.wustl.edu 37 11 121000388 121000388 + Silent SNP G G A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 11 121000388 121000388 G A SNP TECTA ENST00000264037 human ensembl 69_37n +1 known silent c.2409 p.S803 0.975 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors TECTA HGNC ENSG00000109927 66 0 0.00 316 160 33.54 - - - TEN1 0 genome.wustl.edu 37 17 73996333 73996333 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 17 73996333 73996333 G C SNP TEN1 ENST00000397640 human ensembl 69_37n +1 known missense c.362 p.G121A 0.000 NULL NULL - no_errors TEN1 HGNC ENSG00000257949 59 0 0.00 38 24 38.71 - - - TEX264 0 genome.wustl.edu 37 3 51708440 51708440 + Silent SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 3 51708440 51708440 A C SNP TEX264 ENST00000341333 human ensembl 69_37n +1 known silent c.120 p.S40 0.969 NULL superfamily_Reg_factor_effector_bac - no_errors TEX264 HGNC ENSG00000164081 72 0 0.00 80 33 28.45 - - - THTPA 0 genome.wustl.edu 37 14 24028236 24028236 + RNA SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 14 24028236 24028236 C T SNP THTPA ENST00000553985 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RP11-66N24.4 Clone_based_vega_gene ENSG00000157306 37 0 0.00 4 4 50.00 - - - TMEM161B 0 genome.wustl.edu 37 5 87516503 87516503 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 5 87516503 87516503 A C SNP TMEM161B ENST00000296595 human ensembl 69_37n -1 known missense c.323 p.V108G 1.000 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161B HGNC ENSG00000164180 33 0 0.00 46 107 69.03 - - - TMPRSS9 0 genome.wustl.edu 37 19 2396400 2396400 + RNA SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 2396400 2396400 C T SNP TMPRSS9 ENST00000592650 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors TMPRSS9 HGNC ENSG00000178297 11 0 0.00 10 6 37.50 - - - TMTC2 0 genome.wustl.edu 37 12 83251119 83251119 + Silent SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 12 83251119 83251119 A G SNP TMTC2 ENST00000321196 human ensembl 69_37n +1 known silent c.414 p.G138 0.615 NULL pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 88 0 0.00 75 37 30.58 - - - TNRC6C 0 genome.wustl.edu 37 17 76071307 76071307 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 17 76071307 76071307 G C SNP TNRC6C ENST00000335749 human ensembl 69_37n +1 known missense c.2999 p.R1000P 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 38 0 0.00 45 29 38.16 - - - TNS3 0 genome.wustl.edu 37 7 47342642 47342642 + Silent SNP G G A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 7 47342642 47342642 G A SNP TNS3 ENST00000311160 human ensembl 69_37n -1 known silent c.3363 p.F1121 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 71 0 0.00 39 25 39.06 - - - TOMM22 0 genome.wustl.edu 37 22 39077991 39077991 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 22 39077991 39077991 C G SNP TOMM22 ENST00000216034 human ensembl 69_37n +1 known missense c.8 p.A3G 1.000 NULL pfam_Tom22 - no_errors TOMM22 HGNC ENSG00000100216 39 0 0.00 3 12 80.00 - - - TPP2 0 genome.wustl.edu 37 13 103301465 103301465 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 13 103301465 103301465 A C SNP TPP2 ENST00000376065 human ensembl 69_37n +1 known missense c.2837 p.N946T 0.998 pfam_Peptidase_S8A_TPPII pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 66 0 0.00 138 58 29.44 - - - TRPC4AP 0 genome.wustl.edu 37 20 33591353 33591353 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 20 33591353 33591353 G C SNP TRPC4AP ENST00000252015 human ensembl 69_37n -1 known missense c.2116 p.P706A 1.000 pfam_DUF3689 pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 176 0 0.00 52 15 22.39 - - - TSPAN11 0 genome.wustl.edu 37 12 31116820 31116820 + Nonsense_Mutation SNP C C A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 12 31116820 31116820 C A SNP TSPAN11 ENST00000261177 human ensembl 69_37n +1 known nonsense c.144 p.Y48* 1.000 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN11 HGNC ENSG00000110900 132 0 0.00 33 30 47.62 - - - TTC38 0 genome.wustl.edu 37 22 46669905 46669905 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 22 46669905 46669905 A C SNP TTC38 ENST00000445282 human ensembl 69_37n +1 known missense c.304 p.T102P 0.000 NULL NULL - no_errors TTC38 HGNC ENSG00000075234 42 0 0.00 26 19 42.22 - - - TTN 0 genome.wustl.edu 37 2 179633421 179633421 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 2 179633421 179633421 T G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.9142 p.T3048P 0.805 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub 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 128 0 0.00 227 58 20.28 - - - UACA 0 genome.wustl.edu 37 15 70949398 70949398 + Silent SNP G G A TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 15 70949398 70949398 G A SNP UACA ENST00000322954 human ensembl 69_37n -1 known silent c.4248 p.C1416 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 59 0 0.00 52 54 50.94 - - - UBL4B 0 genome.wustl.edu 37 1 110655404 110655404 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 110655404 110655404 A C SNP UBL4B ENST00000334179 human ensembl 69_37n +1 known missense c.248 p.H83P 0.000 NULL pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBL4B HGNC ENSG00000186150 58 0 0.00 34 26 41.94 - - - UROS 0 genome.wustl.edu 37 10 127477546 127477546 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 10 127477546 127477546 C G SNP UROS ENST00000368786 human ensembl 69_37n -1 known missense c.689 p.R230P 0.000 pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth - no_errors UROS HGNC ENSG00000188690 32 0 0.00 12 8 40.00 - - - USE1 0 genome.wustl.edu 37 19 17330035 17330035 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 19 17330035 17330035 T G SNP USE1 ENST00000263897 human ensembl 69_37n +1 known missense c.436 p.S146A 0.386 pfam_Vesicle_transport_protein_Use1 pfam_Vesicle_transport_protein_Use1 - no_errors USE1 HGNC ENSG00000053501 71 0 0.00 35 54 51.43 - - - USP10 0 genome.wustl.edu 37 16 84779261 84779261 + Missense_Mutation SNP G G T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 16 84779261 84779261 G T SNP USP10 ENST00000570191 human ensembl 69_37n +1 known missense c.1186 p.V396L 0.989 NULL pfam_Peptidase_C19,pfam_Ataxin-2_C,pfscan_Peptidase_C19 - no_errors USP10 HGNC ENSG00000103194 43 0 0.00 27 19 41.30 - - - VANGL2 0 genome.wustl.edu 37 1 160393856 160393856 + Missense_Mutation SNP T T G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 160393856 160393856 T G SNP VANGL2 ENST00000368061 human ensembl 69_37n +1 known missense c.1088 p.V363G 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 58 0 0.00 23 41 64.06 - - - WDR4 0 genome.wustl.edu 37 21 44299550 44299550 + Missense_Mutation SNP C C G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 21 44299550 44299550 C G SNP WDR4 ENST00000330317 human ensembl 69_37n -1 known missense c.56 p.G19A 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR4 HGNC ENSG00000160193 109 0 0.00 50 22 30.56 - - - XIRP2 0 genome.wustl.edu 37 2 168115717 168115717 + Silent SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af bf856604-4326-4145-bc3c-137098338f61 2 168115717 168115717 A G SNP XIRP2 ENST00000420519 human ensembl 69_37n +1 known silent c.2760 p.T920 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 127 0 0.00 75 49 39.52 - - - XIRP2 0 genome.wustl.edu 37 2 168115717 168115717 + Silent SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 2 168115717 168115717 A G SNP XIRP2 ENST00000420519 human ensembl 69_37n +1 known silent c.2760 p.T920 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 54 0 0.00 75 49 39.52 - - - ZNF142 0 genome.wustl.edu 37 2 219507438 219507438 + Nonsense_Mutation SNP G G T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 2 219507438 219507438 G T SNP ZNF142 ENST00000411696 human ensembl 69_37n -1 known nonsense c.3801 p.Y1267* 0.959 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 81 0 0.00 32 21 38.89 - - - ZNF425 0 genome.wustl.edu 37 7 148800715 148800715 + Missense_Mutation SNP A A G TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 7 148800715 148800715 A G SNP ZNF425 ENST00000378061 human ensembl 69_37n -1 known missense c.2248 p.S750P 0.011 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 59 0 0.00 38 23 37.70 - - - ZNF451 0 genome.wustl.edu 37 6 56965972 56965972 + Missense_Mutation SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 6 56965972 56965972 C T SNP ZNF451 ENST00000370708 human ensembl 69_37n +1 known missense c.758 p.P253L 0.993 NULL pfam_LAP2alpha - no_errors ZNF451 HGNC ENSG00000112200 26 0 0.00 0 2 100.00 - - - ZNF595 0 genome.wustl.edu 37 4 53277 53277 + RNA SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 4 53277 53277 G C SNP ZNF595 ENST00000339368 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors ZNF595 HGNC ENSG00000197701 203 0 0.00 247 150 37.50 - - - ZZZ3 0 genome.wustl.edu 37 1 78099032 78099032 + Missense_Mutation SNP G G C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bec02b4-7cf0-4797-b1ac-253ef78a34af cc8284b1-f404-4283-b41b-006f9402d472 1 78099032 78099032 G C SNP ZZZ3 ENST00000370801 human ensembl 69_37n -1 known missense c.8 p.A3G 1.000 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 48 0 0.00 24 25 51.02 - - -