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 ADNP2 0 genome.wustl.edu 37 18 77895478 77895478 + Missense_Mutation SNP G G C TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 18 77895478 77895478 G C SNP ADNP2 ENST00000262198 human ensembl 69_37n +1 known missense c.2182 p.E728Q 0.819 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 66 0 0.00 27 4 12.90 - - - ATM 0 genome.wustl.edu 37 11 108114711 108114711 + Silent SNP G G C TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 11 108114711 108114711 G C SNP ATM ENST00000278616 human ensembl 69_37n +1 known silent c.528 p.L176 0.996 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 41 0 0.00 32 5 13.51 - - - C11orf24 0 genome.wustl.edu 37 11 68029901 68029901 + Missense_Mutation SNP G G C TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 11 68029901 68029901 G C SNP C11orf24 ENST00000304271 human ensembl 69_37n -1 known missense c.562 p.L188V 0.000 NULL NULL - no_errors C11orf24 HGNC ENSG00000171067 92 0 0.00 80 10 10.87 - - - C11orf24 0 genome.wustl.edu 37 11 68029945 68029945 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 11 68029945 68029945 G A SNP C11orf24 ENST00000304271 human ensembl 69_37n -1 known missense c.518 p.S173F 0.000 NULL NULL - no_errors C11orf24 HGNC ENSG00000171067 89 0 0.00 77 11 12.50 - - - C12orf23 0 genome.wustl.edu 37 12 107360901 107360901 + Nonsense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 12 107360901 107360901 C T SNP C12orf23 ENST00000280756 human ensembl 69_37n +1 known nonsense c.7 p.Q3* 1.000 NULL NULL - no_errors C12orf23 HGNC ENSG00000151135 61 0 0.00 44 15 25.42 - - - CCDC125 0 genome.wustl.edu 37 5 68606974 68606974 + Missense_Mutation SNP C C G TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 5 68606974 68606974 C G SNP CCDC125 ENST00000396496 human ensembl 69_37n -1 known missense c.424 p.E142Q 1.000 NULL NULL - no_errors CCDC125 HGNC ENSG00000183323 66 0 0.00 55 9 14.06 - - - CCDC86 0 genome.wustl.edu 37 11 60609811 60609811 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 11 60609811 60609811 C T SNP CCDC86 ENST00000535217 human ensembl 69_37n +1 known missense c.194 p.S65F 0.001 NULL NULL - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region CCDC86 HGNC ENSG00000110104 66 0 0.00 42 9 17.65 - - - CDH1 0 genome.wustl.edu 37 16 68857527 68857530 + Splice_Site DEL TAAG TAAG - TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 TAAG TAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 16 68857527 68857530 TAAG - DEL CDH1 ENST00000261769 human ensembl 69_37n +1 known splice_site_del c.2164+4_2164+1 e14-1 0.843:0.380:0.737:1.000 - - - no_errors CDH1 HGNC ENSG00000039068 35 0 0.00 21 6 22.22 - - - CDO1 0 genome.wustl.edu 37 5 115151972 115151972 + Missense_Mutation SNP C C G TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 5 115151972 115151972 C G SNP CDO1 ENST00000250535 human ensembl 69_37n -1 known missense c.123 p.E41D 1.000 pfam_Cys_dOase_I,superfamily_RmlC_Cupin pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin - no_errors CDO1 HGNC ENSG00000129596 39 0 0.00 26 4 13.33 - - - CECR2 0 genome.wustl.edu 37 22 18022655 18022655 + Silent SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 22 18022655 18022655 G A SNP CECR2 ENST00000400573 human ensembl 69_37n +1 novel silent c.2757 p.P919 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 42 0 0.00 31 6 16.22 - - - CELF4 0 genome.wustl.edu 37 18 34839144 34839144 + Missense_Mutation SNP C C A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 18 34839144 34839144 C A SNP CELF4 ENST00000361795 human ensembl 69_37n -1 known missense c.1333 p.G445C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 30 0 0.00 16 5 23.81 - - - CEP350 0 genome.wustl.edu 37 1 179991935 179991935 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 179991935 179991935 C T SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known missense c.3338 p.S1113F 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 59 0 0.00 24 8 25.00 - - - COPB1 0 genome.wustl.edu 37 11 14507916 14507916 + Missense_Mutation SNP G G C TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 11 14507916 14507916 G C SNP COPB1 ENST00000249923 human ensembl 69_37n -1 known missense c.834 p.I278M 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_bsu pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_bsu - no_errors COPB1 HGNC ENSG00000129083 39 0 0.00 46 6 11.54 - - - CROCC 0 genome.wustl.edu 37 1 17275597 17275597 + RNA SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 17275597 17275597 C T SNP CROCC ENST00000488646 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors CROCC HGNC ENSG00000058453 29 0 0.00 27 4 12.90 - - - CROCCP2 0 genome.wustl.edu 37 1 16955075 16955075 + RNA SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 16955075 16955075 C T SNP CROCCP2 ENST00000412962 human ensembl 69_37n -1 known rna NULL NULL 0.995 - - - no_errors CROCCP2 HGNC ENSG00000215908 144 0 0.00 123 14 10.22 - - - DLG2 0 genome.wustl.edu 37 11 83877976 83877976 + RNA SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 11 83877976 83877976 C T SNP DLG2 ENST00000524941 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors DLG2 HGNC ENSG00000150672 72 0 0.00 48 13 21.31 - - - DNASE2B 0 genome.wustl.edu 37 1 84867704 84867704 + Missense_Mutation SNP C C A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 84867704 84867704 C A SNP DNASE2B ENST00000370665 human ensembl 69_37n +1 known missense c.246 p.D82E 0.437 pfam_DNase_II pfam_DNase_II - no_errors DNASE2B HGNC ENSG00000137976 35 0 0.00 38 8 17.39 - - - DOCK1 0 genome.wustl.edu 37 10 129178358 129178358 + Missense_Mutation SNP G G C TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 10 129178358 129178358 G C SNP DOCK1 ENST00000280333 human ensembl 69_37n +1 known missense c.3625 p.E1209Q 1.000 superfamily_ARM-type_fold pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 31 0 0.00 14 4 22.22 - - - DOCK5 0 genome.wustl.edu 37 8 25198459 25198459 + Missense_Mutation SNP C C A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 8 25198459 25198459 C A SNP DOCK5 ENST00000276440 human ensembl 69_37n +1 known missense c.2394 p.F798L 1.000 superfamily_ARM-type_fold pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 65 0 0.00 52 7 11.86 - - - EIF2C2 0 genome.wustl.edu 37 8 141551357 141551357 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 8 141551357 141551357 C T SNP EIF2C2 ENST00000220592 human ensembl 69_37n -1 known missense c.1940 p.R647H 0.998 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC ENSG00000123908 44 0 0.00 38 8 17.39 - - - EIF4ENIF1 0 genome.wustl.edu 37 22 31858942 31858942 + Nonsense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 22 31858942 31858942 G A SNP EIF4ENIF1 ENST00000330125 human ensembl 69_37n -1 known nonsense c.763 p.R255* 1.000 pfam_eIF4E_transporter pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 63 0 0.00 53 13 19.40 - - - ENSG00000229702 0 genome.wustl.edu 37 X 129629119 129629119 + RNA SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b X 129629119 129629119 C T SNP ENSG00000229702 ENST00000458525 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RP1-274L7.1 Clone_based_vega_gene ENSG00000229702 40 0 0.00 42 6 12.50 - - - ENSG00000248710 0 genome.wustl.edu 37 3 159997088 159997088 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 3 159997088 159997088 C T SNP ENSG00000248710 ENST00000483754 human ensembl 69_37n -1 known missense c.2242 p.D748N 1.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 38 0 0.00 22 8 26.67 - - - FAM127A 0 genome.wustl.edu 37 X 134166665 134166665 + Silent SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b X 134166665 134166665 C T SNP FAM127A ENST00000257013 human ensembl 69_37n +1 novel silent c.252 p.I84 0.980 NULL NULL - no_errors FAM127A HGNC ENSG00000134590 121 0 0.00 68 8 10.53 - - - FAM47C 0 genome.wustl.edu 37 X 37026995 37026995 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b X 37026995 37026995 C T SNP FAM47C ENST00000358047 human ensembl 69_37n +1 known missense c.512 p.T171I 0.000 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 72 0 0.00 52 20 27.78 - - - FAT2 0 genome.wustl.edu 37 5 150911490 150911490 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 5 150911490 150911490 C T SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known missense c.9469 p.E3157K 0.972 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 59 0 0.00 44 18 29.03 - - - FMO4 0 genome.wustl.edu 37 1 171303694 171303694 + Silent SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 171303694 171303694 G A SNP FMO4 ENST00000367749 human ensembl 69_37n +1 known silent c.972 p.V324 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 61 0 0.00 19 14 42.42 - - - FREM2 0 genome.wustl.edu 37 13 39261869 39261869 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 13 39261869 39261869 G A SNP FREM2 ENST00000280481 human ensembl 69_37n +1 known missense c.388 p.D130N 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 77 0 0.00 52 7 11.86 - - - GBP6 0 genome.wustl.edu 37 1 89847524 89847524 + Missense_Mutation SNP G G C TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 89847524 89847524 G C SNP GBP6 ENST00000370456 human ensembl 69_37n +1 known missense c.1143 p.K381N 0.384 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP6 HGNC ENSG00000183347 37 0 0.00 41 9 18.00 - - - GDAP1L1 0 genome.wustl.edu 37 20 42876092 42876092 + Missense_Mutation SNP G G T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 20 42876092 42876092 G T SNP GDAP1L1 ENST00000342560 human ensembl 69_37n +1 known missense c.118 p.A40S 1.000 superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1L1 HGNC ENSG00000124194 109 1 0.89 103 14 11.97 - - - GPS2 0 genome.wustl.edu 37 17 7218277 7218277 + Splice_Site SNP C C G TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 17 7218277 7218277 C G SNP GPS2 ENST00000380728 human ensembl 69_37n -1 known splice_site c.94+1 e1+1 1.000 - - - no_errors GPS2 HGNC ENSG00000132522 131 0 0.00 67 30 30.93 - - - GTF3C3 0 genome.wustl.edu 37 2 197654048 197654048 + Nonsense_Mutation SNP G G C TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 2 197654048 197654048 G C SNP GTF3C3 ENST00000263956 human ensembl 69_37n -1 known nonsense c.773 p.S258* 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 41 0 0.00 41 6 12.77 - - - GUCA2B 0 genome.wustl.edu 37 1 42619172 42619172 + Silent SNP C C G TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 42619172 42619172 C G SNP GUCA2B ENST00000372581 human ensembl 69_37n +1 known silent c.51 p.L17 0.331 pfam_Guanylin,pirsf_Guanylin,prints_Guanylin pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin - no_errors GUCA2B HGNC ENSG00000044012 81 0 0.00 46 17 26.98 - - - HEATR8 0 genome.wustl.edu 37 1 55144987 55144987 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 55144987 55144987 G A SNP HEATR8 ENST00000421030 human ensembl 69_37n +1 known missense c.2101 p.A701T 0.898 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR8 HGNC ENSG00000184313 55 0 0.00 39 10 20.41 - - - HMGB1P5 0 genome.wustl.edu 37 3 22423998 22423998 + RNA SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 3 22423998 22423998 C T SNP HMGB1P5 ENST00000451497 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 24 0 0.00 12 3 20.00 - - - HTR1A 0 genome.wustl.edu 37 5 63256619 63256619 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 5 63256619 63256619 C T SNP HTR1A ENST00000323865 human ensembl 69_37n -1 known missense c.928 p.E310K 0.998 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT1A_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 29 0 0.00 19 6 24.00 - - - HTR1D 0 genome.wustl.edu 37 1 23520084 23520084 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 23520084 23520084 G A SNP HTR1D ENST00000314113 human ensembl 69_37n -1 known missense c.629 p.S210L 0.682 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 55 0 0.00 42 5 10.64 - - - HTR2C 0 genome.wustl.edu 37 X 114082707 114082707 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b X 114082707 114082707 G A SNP HTR2C ENST00000276198 human ensembl 69_37n +1 known missense c.491 p.R164H 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2C_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 59 0 0.00 44 8 15.38 - - - IGF1R 0 genome.wustl.edu 37 15 99440122 99440122 + Missense_Mutation SNP A A T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 15 99440122 99440122 A T SNP IGF1R ENST00000268035 human ensembl 69_37n +1 known missense c.1090 p.I364F 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC ENSG00000140443 34 0 0.00 38 6 13.64 - - - IL18 0 genome.wustl.edu 37 11 112025729 112025729 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 11 112025729 112025729 C T SNP IL18 ENST00000280357 human ensembl 69_37n -1 known missense c.48 p.M16I 0.998 pirsf_Interleukin_18 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,pirsf_Interleukin_18,prints_Interleukin_18 - no_errors IL18 HGNC ENSG00000150782 63 0 0.00 60 7 10.45 - - - KCNJ11 0 genome.wustl.edu 37 11 17408790 17408790 + Silent SNP G G T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 11 17408790 17408790 G T SNP KCNJ11 ENST00000339994 human ensembl 69_37n -1 known silent c.849 p.I283 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir6.2 - no_errors KCNJ11 HGNC ENSG00000187486 32 0 0.00 40 5 11.11 - - - KDM5B 0 genome.wustl.edu 37 1 202700129 202700129 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 202700129 202700129 C T SNP KDM5B ENST00000367265 human ensembl 69_37n -1 known missense c.4084 p.E1362K 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 50 0 0.00 21 6 22.22 - - - KIAA0430 0 genome.wustl.edu 37 16 15698049 15698049 + Silent SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 16 15698049 15698049 C T SNP KIAA0430 ENST00000396368 human ensembl 69_37n -1 known silent c.4389 p.L1463 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 50 0 0.00 47 9 16.07 - - - LCT 0 genome.wustl.edu 37 2 136594528 136594528 + Missense_Mutation SNP A A G TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 2 136594528 136594528 A G SNP LCT ENST00000264162 human ensembl 69_37n -1 known missense c.212 p.F71S 0.122 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 49 0 0.00 33 7 17.50 - - - LNX1 0 genome.wustl.edu 37 4 54373554 54373554 + Missense_Mutation SNP C C G TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 4 54373554 54373554 C G SNP LNX1 ENST00000263925 human ensembl 69_37n -1 known missense c.705 p.K235N 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 50 0 0.00 27 4 12.90 - - - LRIF1 0 genome.wustl.edu 37 1 111506249 111506249 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 111506249 111506249 G A SNP LRIF1 ENST00000369763 human ensembl 69_37n -1 known missense c.62 p.S21L 1.000 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 42 0 0.00 30 6 16.67 - - - MAGEE1 0 genome.wustl.edu 37 X 75648839 75648839 + Silent SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b X 75648839 75648839 G A SNP MAGEE1 ENST00000361470 human ensembl 69_37n +1 known silent c.516 p.T172 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 26 0 0.00 15 5 25.00 - - - MDN1 0 genome.wustl.edu 37 6 90383950 90383950 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 6 90383950 90383950 G A SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known missense c.13120 p.R4374W 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 30 0 0.00 8 9 52.94 - - - MEIOB 0 genome.wustl.edu 37 16 1891885 1891885 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 16 1891885 1891885 G A SNP MEIOB ENST00000325962 human ensembl 69_37n -1 known missense c.970 p.L324F 0.990 superfamily_NA-bd_OB-fold-like superfamily_NA-bd_OB-fold-like - no_errors MEIOB HGNC ENSG00000162039 55 0 0.00 50 11 18.03 - - - MFAP3L 0 genome.wustl.edu 37 4 170913069 170913069 + Silent SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 4 170913069 170913069 G A SNP MFAP3L ENST00000361618 human ensembl 69_37n -1 known silent c.690 p.F230 0.994 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MFAP3L HGNC ENSG00000198948 51 0 0.00 34 13 27.66 - - - MIB1 0 genome.wustl.edu 37 18 19438554 19438554 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 18 19438554 19438554 G A SNP MIB1 ENST00000261537 human ensembl 69_37n +1 known missense c.2827 p.V943I 1.000 NULL pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ - no_errors MIB1 HGNC ENSG00000101752 35 0 0.00 30 4 11.76 - - - MICAL3 0 genome.wustl.edu 37 22 18301084 18301084 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 22 18301084 18301084 G A SNP MICAL3 ENST00000441493 human ensembl 69_37n -1 known missense c.4343 p.S1448L 0.999 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 31 0 0.00 18 4 18.18 - - - MRM1 0 genome.wustl.edu 37 17 34958632 34958632 + Missense_Mutation SNP G G C TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 17 34958632 34958632 G C SNP MRM1 ENST00000250156 human ensembl 69_37n +1 known missense c.393 p.W131C 0.017 tigrfam_rRNA_MeTrfase_TrmH pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd,tigrfam_rRNA_MeTrfase_TrmH - no_errors MRM1 HGNC ENSG00000129282 47 0 0.00 39 5 11.36 - - - MYH7 0 genome.wustl.edu 37 14 23886162 23886162 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 14 23886162 23886162 C T SNP MYH7 ENST00000355349 human ensembl 69_37n -1 known missense c.4559 p.G1520E 0.968 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 31 0 0.00 24 5 17.24 - - - MYH7 0 genome.wustl.edu 37 14 23895175 23895175 + Missense_Mutation SNP C C G TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 14 23895175 23895175 C G SNP MYH7 ENST00000355349 human ensembl 69_37n -1 known missense c.2160 p.Q720H 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 51 0 0.00 63 9 12.50 - - - NBPF22P 0 genome.wustl.edu 37 5 85586679 85586679 + RNA SNP G G C TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 5 85586679 85586679 G C SNP NBPF22P ENST00000590707 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors NBPF22P HGNC ENSG00000205449 62 0 0.00 52 9 14.75 - - - NFIA 0 genome.wustl.edu 37 1 61547540 61547541 + RNA INS - - T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 61547540 61547541 - T INS NFIA ENST00000479364 human ensembl 69_37n +1 known rna NULL NULL 1.000:1.000 - - - no_errors NFIA HGNC ENSG00000162599 61 0 0.00 42 17 28.81 - - - NKTR 0 genome.wustl.edu 37 3 42680623 42680623 + Missense_Mutation SNP G G C TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 3 42680623 42680623 G C SNP NKTR ENST00000232978 human ensembl 69_37n +1 known missense c.3427 p.E1143Q 0.930 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 40 0 0.00 20 3 13.04 - - - NKX2-3 0 genome.wustl.edu 37 10 101292921 101292921 + Silent SNP T T A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 10 101292921 101292921 T A SNP NKX2-3 ENST00000344586 human ensembl 69_37n +1 known silent c.33 p.P11 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-3 HGNC ENSG00000119919 82 0 0.00 59 7 10.61 - - - NSFL1C 0 genome.wustl.edu 37 20 1433679 1433679 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 20 1433679 1433679 C T SNP NSFL1C ENST00000350991 human ensembl 69_37n -1 known missense c.650 p.R217K 1.000 pfam_SEP_domain,superfamily_SEP_domain,smart_SEP_domain pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors NSFL1C HGNC ENSG00000088833 27 0 0.00 20 5 20.00 - - - NUDT15 0 genome.wustl.edu 37 13 48611981 48611981 + Missense_Mutation SNP G G T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 13 48611981 48611981 G T SNP NUDT15 ENST00000258662 human ensembl 69_37n +1 known missense c.99 p.K33N 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT15 HGNC ENSG00000136159 82 0 0.00 60 8 11.76 - - - NUP188 0 genome.wustl.edu 37 9 131762022 131762022 + Missense_Mutation SNP G G C TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 9 131762022 131762022 G C SNP NUP188 ENST00000372577 human ensembl 69_37n +1 known missense c.3781 p.D1261H 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 68 0 0.00 50 10 16.39 - - - OLFML2B 0 genome.wustl.edu 37 1 161953686 161953686 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 161953686 161953686 C T SNP OLFML2B ENST00000294794 human ensembl 69_37n -1 known missense c.2032 p.V678I 1.000 pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 90 0 0.00 74 13 14.94 - - - OTOF 0 genome.wustl.edu 37 2 26693475 26693475 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 2 26693475 26693475 C T SNP OTOF ENST00000272371 human ensembl 69_37n -1 known missense c.4009 p.D1337N 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 27 0 0.00 18 4 18.18 - - - PI4K2B 0 genome.wustl.edu 37 4 25278651 25278651 + Nonsense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 4 25278651 25278651 C T SNP PI4K2B ENST00000264864 human ensembl 69_37n +1 known nonsense c.1288 p.Q430* 1.000 pfam_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom - no_errors PI4K2B HGNC ENSG00000038210 48 0 0.00 27 9 25.00 - - - PIGQ 0 genome.wustl.edu 37 16 628900 628900 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 16 628900 628900 C T SNP PIGQ ENST00000420990 human ensembl 69_37n +1 known missense c.217 p.H73Y 1.000 pfam_GlcNAc_Gpi1 pfam_GlcNAc_Gpi1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PIGQ HGNC ENSG00000007541 87 0 0.00 52 7 11.67 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 46 0 0.00 42 13 23.64 - - - PKMYT1 0 genome.wustl.edu 37 16 3019901 3019901 + RNA SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 16 3019901 3019901 G A SNP PKMYT1 ENST00000571102 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors PKMYT1 HGNC ENSG00000127564 11 0 0.00 8 4 33.33 - - - PLEKHG2 0 genome.wustl.edu 37 19 39914915 39914915 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 19 39914915 39914915 G A SNP PLEKHG2 ENST00000409794 human ensembl 69_37n +1 known missense c.3142 p.E1048K 0.382 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 65 0 0.00 35 4 10.26 - - - PLEKHH1 0 genome.wustl.edu 37 14 68029173 68029173 + Silent SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 14 68029173 68029173 C T SNP PLEKHH1 ENST00000329153 human ensembl 69_37n +1 known silent c.825 p.F275 0.014 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 48 0 0.00 39 8 17.02 - - - PNKP 0 genome.wustl.edu 37 19 50367447 50367447 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 19 50367447 50367447 C T SNP PNKP ENST00000322344 human ensembl 69_37n -1 known missense c.625 p.E209K 0.001 pfam_PNK3P,superfamily_HAD-like_dom,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC ENSG00000039650 42 0 0.00 27 11 28.95 - - - POLR3C 0 genome.wustl.edu 37 1 145601595 145601595 + Missense_Mutation SNP G G T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 145601595 145601595 G T SNP POLR3C ENST00000334163 human ensembl 69_37n -1 known missense c.811 p.L271I 1.000 pfam_RNA_pol_III_Rpc82_C pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH - no_errors POLR3C HGNC ENSG00000186141 29 0 0.00 26 4 13.33 - - - POU4F2 0 genome.wustl.edu 37 4 147561653 147561653 + Missense_Mutation SNP C C G TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 4 147561653 147561653 C G SNP POU4F2 ENST00000281321 human ensembl 69_37n +1 known missense c.923 p.S308C 0.996 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 58 0 0.00 41 5 10.87 - - - PPFIA3 0 genome.wustl.edu 37 19 49644726 49644726 + Silent SNP C C A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 19 49644726 49644726 C A SNP PPFIA3 ENST00000334186 human ensembl 69_37n +1 known silent c.2418 p.A806 0.999 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 31 0 0.00 18 4 18.18 - - - PTPRH 0 genome.wustl.edu 37 19 55718603 55718603 + RNA SNP C C G TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 19 55718603 55718603 C G SNP PTPRH ENST00000586852 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PTPRH HGNC ENSG00000080031 82 0 0.00 50 16 24.24 - - - RHOQ 0 genome.wustl.edu 37 2 46803734 46803734 + Missense_Mutation SNP G G T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 2 46803734 46803734 G T SNP RHOQ ENST00000238738 human ensembl 69_37n +1 known missense c.401 p.R134I 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOQ HGNC ENSG00000119729 24 0 0.00 14 3 17.65 - - - RND3 0 genome.wustl.edu 37 2 151326603 151326603 + Silent SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 2 151326603 151326603 C T SNP RND3 ENST00000263895 human ensembl 69_37n -1 known silent c.633 p.Q211 0.999 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND3 HGNC ENSG00000115963 37 0 0.00 29 6 17.14 - - - RNF167 0 genome.wustl.edu 37 17 4843816 4843816 + RNA SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 17 4843816 4843816 G A SNP RNF167 ENST00000571365 human ensembl 69_37n +1 known rna NULL NULL 0.465 - - - no_errors RNF167 HGNC ENSG00000108523 72 0 0.00 31 4 11.43 - - - SCNM1 0 genome.wustl.edu 37 1 151139007 151139007 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 151139007 151139007 C T SNP SCNM1 ENST00000368905 human ensembl 69_37n +1 known missense c.112 p.R38W 0.992 NULL NULL - no_errors SCNM1 HGNC ENSG00000163156 56 0 0.00 41 11 21.15 - - - SETX 0 genome.wustl.edu 37 9 135206816 135206816 + Silent SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 9 135206816 135206816 G A SNP SETX ENST00000372169 human ensembl 69_37n -1 known silent c.858 p.F286 1.000 NULL NULL - no_errors SETX HGNC ENSG00000107290 59 0 0.00 51 6 10.53 - - - SF3B3 0 genome.wustl.edu 37 16 70595653 70595653 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 16 70595653 70595653 G A SNP SF3B3 ENST00000302516 human ensembl 69_37n +1 known missense c.2254 p.E752K 1.000 superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 73 0 0.00 53 9 14.52 - - - SLC22A2 0 genome.wustl.edu 37 6 160668273 160668273 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 6 160668273 160668273 C T SNP SLC22A2 ENST00000366953 human ensembl 69_37n -1 known missense c.900 p.M300I 0.230 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC ENSG00000112499 100 0 0.00 66 8 10.81 - - - SLC24A1 0 genome.wustl.edu 37 15 65918261 65918261 + Missense_Mutation SNP A A C TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 15 65918261 65918261 A C SNP SLC24A1 ENST00000261892 human ensembl 69_37n +1 known missense c.1843 p.S615R 0.767 tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K-dep_Na/Ca-exchanger-like pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K-dep_Na/Ca-exchanger-like - no_errors SLC24A1 HGNC ENSG00000074621 59 0 0.00 47 6 11.32 - - - SLC6A16 0 genome.wustl.edu 37 19 49793527 49793527 + Missense_Mutation SNP G G C TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 19 49793527 49793527 G C SNP SLC6A16 ENST00000335875 human ensembl 69_37n -1 known missense c.2064 p.F688L 0.394 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A16 HGNC ENSG00000063127 35 0 0.00 17 4 19.05 - - - SMG6 0 genome.wustl.edu 37 17 2203078 2203078 + Silent SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 17 2203078 2203078 C T SNP SMG6 ENST00000263073 human ensembl 69_37n -1 known silent c.969 p.R323 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC ENSG00000070366 83 0 0.00 69 8 10.39 - - - SNHG14 0 genome.wustl.edu 37 15 25330466 25330466 + RNA SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 15 25330466 25330466 G A SNP SNHG14 ENST00000546682 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors SNHG14 HGNC ENSG00000224078 91 0 0.00 57 11 16.18 - - - SPEN 0 genome.wustl.edu 37 1 16262705 16262705 + Nonsense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 1 16262705 16262705 C T SNP SPEN ENST00000375759 human ensembl 69_37n +1 known nonsense c.9970 p.Q3324* 0.998 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 53 0 0.00 34 4 10.53 - - - SPTLC3 0 genome.wustl.edu 37 20 13090784 13090784 + Silent SNP G G T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 20 13090784 13090784 G T SNP SPTLC3 ENST00000399002 human ensembl 69_37n +1 known silent c.852 p.L284 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC3 HGNC ENSG00000172296 21 0 0.00 13 3 18.75 - - - STX19 0 genome.wustl.edu 37 3 93733952 93733952 + Silent SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 3 93733952 93733952 G A SNP STX19 ENST00000315099 human ensembl 69_37n -1 known silent c.162 p.I54 0.998 pfam_Syntaxin_N,superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX19 HGNC ENSG00000178750 58 0 0.00 39 6 13.33 - - - TBCK 0 genome.wustl.edu 37 4 107092416 107092416 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 4 107092416 107092416 C T SNP TBCK ENST00000273980 human ensembl 69_37n -1 known missense c.2071 p.E691K 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_cat_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC ENSG00000145348 37 0 0.00 35 8 18.60 - - - THAP5 0 genome.wustl.edu 37 7 108210035 108210035 + RNA SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 7 108210035 108210035 G A SNP THAP5 ENST00000412935 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors THAP5 HGNC ENSG00000177683 59 0 0.00 29 4 12.12 - - - TP53BP1 0 genome.wustl.edu 37 15 43766949 43766949 + Missense_Mutation SNP C C A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 15 43766949 43766949 C A SNP TP53BP1 ENST00000382044 human ensembl 69_37n -1 known missense c.1102 p.V368F 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 25 0 0.00 23 4 14.81 - - - TPTE2P5 0 genome.wustl.edu 37 13 41400715 41400715 + Splice_Site SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 13 41400715 41400715 C T SNP TPTE2P5 ENST00000458118 human ensembl 69_37n -1 known splice_site c.NULL NULL 0.002 - - - no_coding_region:pseudogene TPTE2P5 HGNC ENSG00000168852 29 0 0.00 26 7 21.21 - - - TTLL5 0 genome.wustl.edu 37 14 76238123 76238123 + Nonsense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 14 76238123 76238123 C T SNP TTLL5 ENST00000298832 human ensembl 69_37n +1 known nonsense c.2062 p.Q688* 1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL5 HGNC ENSG00000119685 51 0 0.00 43 6 12.24 - - - UTRN 0 genome.wustl.edu 37 6 145157645 145157645 + Nonsense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 6 145157645 145157645 C T SNP UTRN ENST00000367545 human ensembl 69_37n +1 known nonsense c.10033 p.Q3345* 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 24 0 0.00 14 5 26.32 - - - XIRP1 0 genome.wustl.edu 37 3 39228407 39228407 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 3 39228407 39228407 C T SNP XIRP1 ENST00000340369 human ensembl 69_37n -1 known missense c.2530 p.G844R 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 39 0 0.00 18 6 25.00 - - - XPO5 0 genome.wustl.edu 37 6 43494425 43494425 + Missense_Mutation SNP T T A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 6 43494425 43494425 T A SNP XPO5 ENST00000265351 human ensembl 69_37n -1 known missense c.2981 p.D994V 0.995 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 29 0 0.00 35 5 12.50 - - - XYLT2 0 genome.wustl.edu 37 17 48433485 48433485 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 17 48433485 48433485 G A SNP XYLT2 ENST00000017003 human ensembl 69_37n +1 known missense c.1345 p.E449K 0.999 pfam_Glyco_trans_14 pfam_XylT_met,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 52 0 0.00 41 7 14.58 - - - ZNF420 0 genome.wustl.edu 37 19 37620968 37620968 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 19 37620968 37620968 G A SNP ZNF420 ENST00000304239 human ensembl 69_37n +1 putative missense c.1441 p.D481N 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF420 HGNC ENSG00000197050 63 0 0.00 68 8 10.53 - - - ZNF529 0 genome.wustl.edu 37 19 37038799 37038799 + Missense_Mutation SNP G G T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 19 37038799 37038799 G T SNP ZNF529 ENST00000591340 human ensembl 69_37n -1 known missense c.661 p.H221N 0.983 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF529 HGNC ENSG00000186020 27 0 0.00 29 5 14.71 - - - ZNF718 0 genome.wustl.edu 37 4 155278 155278 + RNA SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5fa6274a-0c87-4648-8902-6fd01fcc8e23 2032db41-2068-4ac4-935a-36a3a8a6093b 4 155278 155278 C T SNP ZNF718 ENST00000400172 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ZNF718 HGNC ENSG00000250312 32 0 0.00 14 4 22.22 - - -