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 ANP32B 0 genome.wustl.edu 37 9 100757043 100757043 + Missense_Mutation SNP A A T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 9 100757043 100757043 A T SNP ANP32B ENST00000339399 human ensembl 69_37n +1 known missense c.185 p.K62M 1.000 NULL smart_U2A'_phosphoprotein32A_C - no_errors ANP32B HGNC ENSG00000136938 65 0 0.00 46 7 13.21 - - - ANXA11 0 genome.wustl.edu 37 10 81915536 81915536 + RNA SNP C C G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 10 81915536 81915536 C G SNP ANXA11 ENST00000463340 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ANXA11 HGNC ENSG00000122359 115 0 0.00 87 27 23.68 - - - AQR 0 genome.wustl.edu 37 15 35198909 35198909 + Silent SNP A A G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 15 35198909 35198909 A G SNP AQR ENST00000156471 human ensembl 69_37n -1 known silent c.1668 p.L556 0.998 NULL NULL - no_errors AQR HGNC ENSG00000021776 87 0 0.00 30 23 43.40 - - - ATP1A1 0 genome.wustl.edu 37 1 116931552 116931552 + Nonsense_Mutation SNP C C G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 1 116931552 116931552 C G SNP ATP1A1 ENST00000295598 human ensembl 69_37n +1 known nonsense c.665 p.S222* 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A1 HGNC ENSG00000163399 27 0 0.00 22 10 31.25 - - - BAIAP2 0 genome.wustl.edu 37 17 79079916 79079916 + Missense_Mutation SNP A A T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 17 79079916 79079916 A T SNP BAIAP2 ENST00000321300 human ensembl 69_37n +1 known missense c.1307 p.D436V 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2 HGNC ENSG00000175866 52 0 0.00 60 17 21.79 - - - BBS12 0 genome.wustl.edu 37 4 123664881 123664881 + Nonsense_Mutation SNP G G T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 4 123664881 123664881 G T SNP BBS12 ENST00000314218 human ensembl 69_37n +1 known nonsense c.1834 p.E612* 0.997 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS12 HGNC ENSG00000181004 36 0 0.00 25 3 10.71 - - - C11orf9 0 genome.wustl.edu 37 11 61537881 61537881 + Silent SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 11 61537881 61537881 G A SNP C11orf9 ENST00000278836 human ensembl 69_37n +1 known silent c.624 p.K208 1.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors C11orf9 HGNC ENSG00000124920 25 0 0.00 24 11 31.43 - - - C9orf57 0 genome.wustl.edu 37 9 74674237 74674237 + Missense_Mutation SNP A A G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 9 74674237 74674237 A G SNP C9orf57 ENST00000377024 human ensembl 69_37n -1 known missense c.77 p.I26T 0.000 NULL NULL - no_errors C9orf57 HGNC ENSG00000204669 35 0 0.00 10 16 61.54 - - - CASP8AP2 0 genome.wustl.edu 37 6 90566870 90566870 + RNA SNP G G T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 6 90566870 90566870 G T SNP CASP8AP2 ENST00000237177 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors CASP8AP2 HGNC ENSG00000118412 53 0 0.00 53 22 29.33 - - - CBWD1 0 genome.wustl.edu 37 9 121751 121751 + RNA SNP T T A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 9 121751 121751 T A SNP CBWD1 ENST00000475990 human ensembl 69_37n -1 known rna NULL NULL 0.071 - - - no_errors CBWD1 HGNC ENSG00000172785 34 0 0.00 26 6 18.18 - - - CD19 0 genome.wustl.edu 37 16 28948386 28948386 + Missense_Mutation SNP C C G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 16 28948386 28948386 C G SNP CD19 ENST00000538922 human ensembl 69_37n +1 known missense c.1127 p.P376R 0.000 NULL smart_Ig_sub,pfscan_Ig-like - no_errors CD19 HGNC ENSG00000177455 41 0 0.00 31 19 38.00 - - - CHAMP1 0 genome.wustl.edu 37 13 115091669 115091669 + Missense_Mutation SNP A A C TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 13 115091669 115091669 A C SNP CHAMP1 ENST00000361283 human ensembl 69_37n +1 known missense c.2352 p.L784F 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CHAMP1 HGNC ENSG00000198824 22 0 0.00 12 5 29.41 - - - CMYA5 0 genome.wustl.edu 37 5 79084846 79084846 + Missense_Mutation SNP G G C TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 5 79084846 79084846 G C SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.11608 p.D3870H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 49 0 0.00 33 18 35.29 - - - COG7 0 genome.wustl.edu 37 16 23457182 23457182 + Silent SNP G G T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 16 23457182 23457182 G T SNP COG7 ENST00000307149 human ensembl 69_37n -1 known silent c.270 p.V90 0.999 pfam_COG_su7 pfam_COG_su7 - no_errors COG7 HGNC ENSG00000168434 51 0 0.00 61 19 23.75 - - - COPA 0 genome.wustl.edu 37 1 160261648 160261648 + Silent SNP C C T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 1 160261648 160261648 C T SNP COPA ENST00000368069 human ensembl 69_37n -1 known silent c.3246 p.L1082 1.000 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPA HGNC ENSG00000122218 101 0 0.00 95 28 22.76 - - - CSF3 0 genome.wustl.edu 37 17 38172764 38172764 + Missense_Mutation SNP C C G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 17 38172764 38172764 C G SNP CSF3 ENST00000225474 human ensembl 69_37n +1 known missense c.339 p.S113R 0.000 pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core,smart_IL6_MGF_GCSF,pirsf_IL6_MGF_GCSF,prints_IL6_MGF_GCSF pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core,smart_IL6_MGF_GCSF,pirsf_IL6_MGF_GCSF,prints_IL6_MGF_GCSF - no_errors CSF3 HGNC ENSG00000108342 56 0 0.00 18 23 54.76 - - - CSMD1 0 genome.wustl.edu 37 8 2824186 2824186 + Missense_Mutation SNP G G T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 8 2824186 2824186 G T SNP CSMD1 ENST00000335551 human ensembl 69_37n -1 novel missense c.7258 p.L2420I 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSMD1 HGNC ENSG00000183117 64 0 0.00 35 5 12.50 - - - CYP2D7P1 0 genome.wustl.edu 37 22 42540319 42540319 + Missense_Mutation SNP A A C TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 22 42540319 42540319 A C SNP CYP2D7P1 ENST00000433992 human ensembl 69_37n -1 known missense c.147 p.C49W 0.950 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CYP2D7P1 HGNC ENSG00000205702 121 0 0.00 49 35 41.67 - - - DAPK1 0 genome.wustl.edu 37 9 90301529 90301529 + Missense_Mutation SNP T T C TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 9 90301529 90301529 T C SNP DAPK1 ENST00000469640 human ensembl 69_37n +1 known missense c.2288 p.M763T 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 95 0 0.00 53 25 32.05 - - - DCHS2 0 genome.wustl.edu 37 4 155219402 155219402 + Missense_Mutation SNP C C T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 4 155219402 155219402 C T SNP DCHS2 ENST00000357232 human ensembl 69_37n -1 known missense c.4699 p.V1567I 0.062 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 58 0 0.00 44 18 29.03 - - - DMBX1 0 genome.wustl.edu 37 1 46977811 46977811 + Missense_Mutation SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 1 46977811 46977811 G A SNP DMBX1 ENST00000371956 human ensembl 69_37n +1 known missense c.794 p.R265H 1.000 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors DMBX1 HGNC ENSG00000197587 133 0 0.00 37 37 50.00 - - - DMBX1 0 genome.wustl.edu 37 1 46977813 46977813 + Silent SNP C C T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 1 46977813 46977813 C T SNP DMBX1 ENST00000371956 human ensembl 69_37n +1 known silent c.796 p.L266 1.000 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors DMBX1 HGNC ENSG00000197587 135 0 0.00 40 38 48.72 - - - EEF1B2 0 genome.wustl.edu 37 2 207026111 207026111 + Missense_Mutation SNP C C T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 2 207026111 207026111 C T SNP EEF1B2 ENST00000236957 human ensembl 69_37n +1 known missense c.245 p.A82V 0.884 NULL pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Glutathione-S-Trfase_C-like,smart_Transl_elong_fac_EF1B_bsu/dsu - no_errors EEF1B2 HGNC ENSG00000114942 76 0 0.00 49 11 18.33 - - - EGFR 0 genome.wustl.edu 37 7 55223574 55223574 + Missense_Mutation SNP A A G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 7 55223574 55223574 A G SNP EGFR ENST00000275493 human ensembl 69_37n +1 known missense c.941 p.D314G 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000146648 85 0 0.00 69 28 28.57 - - - ENG 0 genome.wustl.edu 37 9 130578203 130578203 + Missense_Mutation SNP G G T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 9 130578203 130578203 G T SNP ENG ENST00000344849 human ensembl 69_37n -1 known missense c.1871 p.P624Q 0.600 NULL pfam_Zona_pellucida_Endoglin/CD105 - no_errors ENG HGNC ENSG00000106991 36 0 0.00 23 5 17.86 - - - EXOC6B 0 genome.wustl.edu 37 2 72802668 72802668 + Nonsense_Mutation SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 2 72802668 72802668 G A SNP EXOC6B ENST00000272427 human ensembl 69_37n -1 known nonsense c.799 p.Q267* 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 94 0 0.00 37 21 36.21 - - - FAM198A 0 genome.wustl.edu 37 3 43074558 43074558 + Missense_Mutation SNP T T G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 3 43074558 43074558 T G SNP FAM198A ENST00000273146 human ensembl 69_37n +1 known missense c.803 p.M268R 0.371 NULL NULL - no_errors FAM198A HGNC ENSG00000144649 56 0 0.00 18 21 53.85 - - - FAM24A 0 genome.wustl.edu 37 10 124672467 124672467 + Silent SNP C C A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 10 124672467 124672467 C A SNP FAM24A ENST00000368894 human ensembl 69_37n +1 known silent c.315 p.L105 0.088 NULL NULL - no_errors FAM24A HGNC ENSG00000203795 68 0 0.00 50 23 31.51 - - - FAM26D 0 genome.wustl.edu 37 6 116875493 116875493 + Silent SNP T T C TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 6 116875493 116875493 T C SNP FAM26D ENST00000368596 human ensembl 69_37n +1 known silent c.537 p.L179 1.000 NULL NULL - no_errors FAM26D HGNC ENSG00000164451 32 0 0.00 21 3 12.50 - - - FATE1 0 genome.wustl.edu 37 X 150884628 150884628 + Nonsense_Mutation SNP G G T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 X 150884628 150884628 G T SNP FATE1 ENST00000370350 human ensembl 69_37n +1 known nonsense c.37 p.E13* 0.001 NULL pfam_FATE/Miff/Tango-11 - no_errors FATE1 HGNC ENSG00000147378 40 0 0.00 35 4 10.26 - - - FBXL2 0 genome.wustl.edu 37 3 33416911 33416911 + Splice_Site SNP G G T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 3 33416911 33416911 G T SNP FBXL2 ENST00000484457 human ensembl 69_37n +1 known splice_site c.788+1 e10+1 1.000 - - - no_errors FBXL2 HGNC ENSG00000153558 58 0 0 53 43 44.79 - - - FBXL2 0 genome.wustl.edu 37 3 33416911 33416911 + Splice_Site SNP G G T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 3 33416911 33416911 G T SNP FBXL2 ENST00000484457 human ensembl 69_37n +1 known splice_site c.788+1 e10+1 1.000 - - - no_errors FBXL2 HGNC ENSG00000153558 58 0 0.00 53 43 44.79 - - - FGFR1 0 genome.wustl.edu 37 8 38273484 38273484 + Silent SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 8 38273484 38273484 G A SNP FGFR1 ENST00000425967 human ensembl 69_37n -1 known silent c.1851 p.N617 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR1 HGNC ENSG00000077782 62 0 0.00 111 18 13.95 - - - FSIP2 0 genome.wustl.edu 37 2 186627943 186627943 + Missense_Mutation SNP T T C TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 2 186627943 186627943 T C SNP FSIP2 ENST00000343098 human ensembl 69_37n +1 known missense c.1541 p.I514T 0.149 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 34 0 0.00 33 4 10.81 - - - FXYD3 0 genome.wustl.edu 37 19 35613803 35613803 + Missense_Mutation SNP A A G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 19 35613803 35613803 A G SNP FXYD3 ENST00000346446 human ensembl 69_37n +1 known missense c.232 p.T78A 0.000 NULL pfam_Ion-transport_regulator_FXYD - no_errors FXYD3 HGNC ENSG00000089356 29 0 0.00 32 13 28.89 - - - GP5 0 genome.wustl.edu 37 3 194118419 194118419 + Missense_Mutation SNP C C G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 3 194118419 194118419 C G SNP GP5 ENST00000323007 human ensembl 69_37n -1 known missense c.593 p.R198T 0.001 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 31 0 0.00 25 13 34.21 - - - GRXCR1 0 genome.wustl.edu 37 4 43032455 43032455 + Missense_Mutation SNP G G T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 4 43032455 43032455 G T SNP GRXCR1 ENST00000399770 human ensembl 69_37n +1 known missense c.771 p.K257N 1.000 superfamily_HSP_DnaJ_Cys-rich_dom pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 79 0 0.00 69 25 26.60 - - - HIRIP3 0 genome.wustl.edu 37 16 30005877 30005877 + Missense_Mutation SNP C C T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 16 30005877 30005877 C T SNP HIRIP3 ENST00000279392 human ensembl 69_37n -1 known missense c.589 p.E197K 0.008 NULL pfam_Histone_chaperone_domain_CHZ - no_errors HIRIP3 HGNC ENSG00000149929 163 0 0.00 142 59 29.35 - - - HIST1H1E 0 genome.wustl.edu 37 6 26156885 26156885 + Missense_Mutation SNP C C G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 6 26156885 26156885 C G SNP HIST1H1E ENST00000304218 human ensembl 69_37n +1 known missense c.267 p.S89R 1.000 pfam_Histone_H1/H5,smart_Histone_H1/H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 92 0 0.00 63 25 28.41 - - - HOXA-AS2 0 genome.wustl.edu 37 7 27147487 27147487 + RNA SNP A A T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 7 27147487 27147487 A T SNP HOXA-AS2 ENST00000518088 human ensembl 69_37n +1 known rna NULL NULL 0.211 - - - no_errors HOXA-AS2 HGNC ENSG00000253552 39 0 0.00 22 8 25.81 - - - HS3ST1 0 genome.wustl.edu 37 4 11401364 11401364 + Missense_Mutation SNP A A T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 4 11401364 11401364 A T SNP HS3ST1 ENST00000002596 human ensembl 69_37n -1 known missense c.266 p.F89Y 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST1 HGNC ENSG00000002587 57 0 0.00 28 5 15.15 - - - IL18R1 0 genome.wustl.edu 37 2 103013176 103013176 + Missense_Mutation SNP C C A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 2 103013176 103013176 C A SNP IL18R1 ENST00000233957 human ensembl 69_37n +1 known missense c.1456 p.P486T 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL18R1 HGNC ENSG00000115604 54 0 0.00 28 15 34.88 - - - INTS9 0 genome.wustl.edu 37 8 28627466 28627466 + Missense_Mutation SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 8 28627466 28627466 G A SNP INTS9 ENST00000517383 human ensembl 69_37n -1 novel missense c.161 p.S54F 0.001 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region INTS9 HGNC ENSG00000104299 56 0 0.00 23 26 53.06 - - - ITPR1 0 genome.wustl.edu 37 3 4836817 4836817 + Missense_Mutation SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 3 4836817 4836817 G A SNP ITPR1 ENST00000302640 human ensembl 69_37n +1 known missense c.6832 p.V2278I 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 114 0 0.00 134 39 22.54 - - - KCNN3 0 genome.wustl.edu 37 1 154680665 154680665 + Silent SNP C C T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 1 154680665 154680665 C T SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known silent c.1983 p.S661 0.426 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 49 0 0.00 36 19 34.55 - - - KIAA0753 0 genome.wustl.edu 37 17 6503709 6503709 + Silent SNP G G C TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 17 6503709 6503709 G C SNP KIAA0753 ENST00000361413 human ensembl 69_37n -1 known silent c.2079 p.V693 0.929 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 48 0 0.00 24 8 25.00 - - - KRT8P11 0 genome.wustl.edu 37 9 102067452 102067452 + Missense_Mutation SNP C C A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 9 102067452 102067452 C A SNP KRT8P11 ENST00000409686 human ensembl 69_37n +1 known missense c.59 p.S20Y 0.413 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT8P11 HGNC ENSG00000259197 46 0 0.00 11 11 50.00 - - - KRTAP17-1 0 genome.wustl.edu 37 17 39471766 39471767 + Frame_Shift_Ins INS - - C TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 17 39471766 39471767 - C INS KRTAP17-1 ENST00000334202 human ensembl 69_37n -1 known frame_shift_ins c.137_136 p.S46fs 0.000:0.001 NULL NULL - no_errors KRTAP17-1 HGNC ENSG00000186860 18 0 0.00 14 3 17.65 - - - LAMA1 0 genome.wustl.edu 37 18 7013948 7013948 + Missense_Mutation SNP A A C TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 18 7013948 7013948 A C SNP LAMA1 ENST00000389658 human ensembl 69_37n -1 known missense c.3229 p.C1077G 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 52 0 0.00 32 8 20.00 - - - LRAT 0 genome.wustl.edu 37 4 155665479 155665479 + Missense_Mutation SNP A A G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 4 155665479 155665479 A G SNP LRAT ENST00000336356 human ensembl 69_37n +1 known missense c.1 p.M1V 1.000 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 42 0 0.00 26 12 31.58 - - - MDM1 0 genome.wustl.edu 37 12 68696589 68696589 + Silent SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 12 68696589 68696589 G A SNP MDM1 ENST00000303145 human ensembl 69_37n -1 known silent c.1783 p.L595 0.820 NULL NULL - no_errors MDM1 HGNC ENSG00000111554 35 0 0.00 27 15 35.71 - - - MEG3 0 genome.wustl.edu 37 14 101300843 101300843 + RNA SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 14 101300843 101300843 G A SNP MEG3 ENST00000398461 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MEG3 HGNC ENSG00000214548 34 0 0.00 23 4 14.81 - - - MGLL 0 genome.wustl.edu 37 3 127434754 127434754 + Missense_Mutation SNP T T G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 3 127434754 127434754 T G SNP MGLL ENST00000496306 human ensembl 69_37n -1 novel missense c.139 p.N47H 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MGLL HGNC ENSG00000074416 47 0 0.00 23 8 25.81 - - - MIR3130-1 0 genome.wustl.edu 37 2 207647981 207647981 + RNA SNP C C T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 2 207647981 207647981 C T SNP MIR3130-1 ENST00000579223 human ensembl 69_37n +1 known rna NULL NULL 0.029 - - - no_errors MIR3130-1 HGNC ENSG00000263468 23 0 0.00 17 4 19.05 - - - MTERFD3 0 genome.wustl.edu 37 12 107371522 107371522 + Missense_Mutation SNP T T A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 12 107371522 107371522 T A SNP MTERFD3 ENST00000240050 human ensembl 69_37n -1 known missense c.971 p.E324V 1.000 pfam_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD3 HGNC ENSG00000120832 98 0 0.00 88 39 30.71 - - - MUC4 0 genome.wustl.edu 37 3 195506483 195506483 + Missense_Mutation SNP T T C TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 3 195506483 195506483 T C SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.11968 p.T3990A 0.002 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 12 0 0.00 18 9 31.03 - - - MYO5A 0 genome.wustl.edu 37 15 52659300 52659300 + Missense_Mutation SNP C C T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 15 52659300 52659300 C T SNP MYO5A ENST00000358212 human ensembl 69_37n -1 known missense c.3088 p.E1030K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 116 0 0.00 43 27 38.57 - - - OR13J1 0 genome.wustl.edu 37 9 35870121 35870121 + Missense_Mutation SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 9 35870121 35870121 G A SNP OR13J1 ENST00000377981 human ensembl 69_37n -1 known missense c.278 p.S93F 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR13J1 HGNC ENSG00000168828 37 0 0.00 32 12 27.27 - - - OR2Y1 0 genome.wustl.edu 37 5 180166248 180166248 + Missense_Mutation SNP T T C TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 5 180166248 180166248 T C SNP OR2Y1 ENST00000307832 human ensembl 69_37n -1 known missense c.811 p.K271E 0.158 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2Y1 HGNC ENSG00000174339 53 0 0.00 28 18 39.13 - - - OR7A17 0 genome.wustl.edu 37 19 14991371 14991371 + Missense_Mutation SNP T T C TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 19 14991371 14991371 T C SNP OR7A17 ENST00000327462 human ensembl 69_37n -1 known missense c.797 p.H266R 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7A17 HGNC ENSG00000185385 81 0 0.00 62 24 27.91 - - - OXR1 0 genome.wustl.edu 37 8 107715274 107715274 + Missense_Mutation SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 8 107715274 107715274 G A SNP OXR1 ENST00000442977 human ensembl 69_37n +1 known missense c.819 p.M273I 1.000 NULL pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 59 0 0.00 58 20 25.64 - - - PPIG 0 genome.wustl.edu 37 2 170470979 170470979 + Missense_Mutation SNP C C G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 2 170470979 170470979 C G SNP PPIG ENST00000260970 human ensembl 69_37n +1 known missense c.383 p.T128R 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 35 0 0.00 28 4 12.50 - - - PRIC285 0 genome.wustl.edu 37 20 62195420 62195420 + Silent SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 20 62195420 62195420 G A SNP PRIC285 ENST00000467148 human ensembl 69_37n -1 known silent c.4755 p.H1585 0.000 pfam_RNase_II/R,smart_RNase_II/R pfam_RNase_II/R,smart_RNase_II/R - no_errors RP4-697K14.7 Clone_based_vega_gene ENSG00000130589 64 0 0.00 32 13 28.89 - - - PRKCB 0 genome.wustl.edu 37 16 24196452 24196452 + Silent SNP T T C TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 16 24196452 24196452 T C SNP PRKCB ENST00000303531 human ensembl 69_37n +1 known silent c.1554 p.Y518 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors PRKCB HGNC ENSG00000166501 116 0 0.00 79 33 29.46 - - - PSPC1 0 genome.wustl.edu 37 13 20283700 20283700 + Nonsense_Mutation SNP C C A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 13 20283700 20283700 C A SNP PSPC1 ENST00000338910 human ensembl 69_37n -1 known nonsense c.1198 p.G400* 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 98 0 0.00 77 48 38.40 - - - PTGFRN 0 genome.wustl.edu 37 1 117504034 117504034 + Silent SNP C C T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 1 117504034 117504034 C T SNP PTGFRN ENST00000393203 human ensembl 69_37n +1 known silent c.1383 p.S461 0.683 smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PTGFRN HGNC ENSG00000134247 66 0 0.00 47 17 26.56 - - - PTPN7 0 genome.wustl.edu 37 1 202130671 202130671 + Nonsense_Mutation SNP G G T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 1 202130671 202130671 G T SNP PTPN7 ENST00000477554 human ensembl 69_37n -1 putative nonsense c.39 p.C13* 0.242 NULL pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt - no_start_codon PTPN7 HGNC ENSG00000143851 52 0 0.00 62 9 12.68 - - - PTPRVP 0 genome.wustl.edu 37 1 202158370 202158370 + RNA SNP C C G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 1 202158370 202158370 C G SNP PTPRVP ENST00000482597 human ensembl 69_37n +1 known rna NULL NULL 0.623 - - - no_errors PTPRVP HGNC ENSG00000243323 87 0 0.00 57 28 32.94 - - - RGL3 0 genome.wustl.edu 37 19 11507967 11507967 + Missense_Mutation SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 19 11507967 11507967 G A SNP RGL3 ENST00000393423 human ensembl 69_37n -1 known missense c.1985 p.P662L 0.113 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL3 HGNC ENSG00000205517 61 0 0.00 60 15 20.00 - - - RIN3 0 genome.wustl.edu 37 14 93107614 93107614 + Missense_Mutation SNP C C A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 14 93107614 93107614 C A SNP RIN3 ENST00000216487 human ensembl 69_37n +1 known missense c.472 p.Q158K 1.000 pfscan_SH2 pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 78 0 0.00 28 22 44.00 - - - RPAP2 0 genome.wustl.edu 37 1 92789425 92789425 + Missense_Mutation SNP A A T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 1 92789425 92789425 A T SNP RPAP2 ENST00000370343 human ensembl 69_37n +1 known missense c.948 p.E316D 0.076 NULL pfam_DUF408 - no_errors RPAP2 HGNC ENSG00000122484 19 0 0.00 9 6 40.00 - - - SERINC5 0 genome.wustl.edu 37 5 79439630 79439630 + Silent SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 5 79439630 79439630 G A SNP SERINC5 ENST00000512721 human ensembl 69_37n -1 novel silent c.1242 p.Y414 0.984 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC5 HGNC ENSG00000164300 24 0 0.00 10 4 28.57 - - - SERPINC1 0 genome.wustl.edu 37 1 173878701 173878701 + Missense_Mutation SNP G G C TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 1 173878701 173878701 G C SNP SERPINC1 ENST00000367698 human ensembl 69_37n -1 known missense c.1142 p.S381C 1.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINC1 HGNC ENSG00000117601 31 0 0.00 37 5 11.63 - - - SLC25A14 0 genome.wustl.edu 37 X 129506981 129506981 + RNA SNP C C A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 X 129506981 129506981 C A SNP SLC25A14 ENST00000465988 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors SLC25A14 HGNC ENSG00000102078 113 0 0.00 67 10 12.99 - - - SLC34A2 0 genome.wustl.edu 37 4 25664351 25664351 + Missense_Mutation SNP C C T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 4 25664351 25664351 C T SNP SLC34A2 ENST00000382051 human ensembl 69_37n +1 known missense c.137 p.T46I 0.005 NULL pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 43 0 0.00 35 17 32.69 - - - SLC35F1 0 genome.wustl.edu 37 6 118588284 118588284 + Missense_Mutation SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 6 118588284 118588284 G A SNP SLC35F1 ENST00000360388 human ensembl 69_37n +1 known missense c.604 p.A202T 1.000 pfam_DUF914_euk pfam_DUF914_euk,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 130 0 0.00 110 41 27.15 - - - SLC45A1 0 genome.wustl.edu 37 1 8385447 8385447 + Missense_Mutation SNP A A G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 1 8385447 8385447 A G SNP SLC45A1 ENST00000377479 human ensembl 69_37n +1 known missense c.589 p.I197V 0.725 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 53 0 0.00 13 11 45.83 - - - SPATA2 0 genome.wustl.edu 37 20 48524761 48524761 + Silent SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 20 48524761 48524761 G A SNP SPATA2 ENST00000289431 human ensembl 69_37n -1 known silent c.267 p.F89 0.994 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 32 0 0.00 31 8 20.51 - - - TMEM245 0 genome.wustl.edu 37 9 111849489 111849489 + Missense_Mutation SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 9 111849489 111849489 G A SNP TMEM245 ENST00000413712 human ensembl 69_37n -1 novel missense c.85 p.R29W 0.004 NULL pfam_UPF0118 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TMEM245 HGNC ENSG00000106771 36 0 0.00 11 16 59.26 - - - TMEM25 0 genome.wustl.edu 37 11 118404580 118404580 + Missense_Mutation SNP C C A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 11 118404580 118404580 C A SNP TMEM25 ENST00000526853 human ensembl 69_37n +1 putative missense c.317 p.P106Q 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TMEM25 HGNC ENSG00000149582 72 0 0.00 28 24 46.15 - - - TP53 0 genome.wustl.edu 37 17 7578536 7578536 + Missense_Mutation SNP T T C TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 17 7578536 7578536 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.394 p.K132E 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 33 0 0.00 20 12 37.50 - - - TRIM43 0 genome.wustl.edu 37 2 96265165 96265165 + Silent SNP C C T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 2 96265165 96265165 C T SNP TRIM43 ENST00000272395 human ensembl 69_37n +1 known silent c.1185 p.Y395 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM43 HGNC ENSG00000144015 8 0 0.00 7 5 41.67 - - - TRIM9 0 genome.wustl.edu 37 14 51561358 51561358 + Silent SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 14 51561358 51561358 G A SNP TRIM9 ENST00000338969 human ensembl 69_37n -1 known silent c.300 p.R100 0.191 smart_Znf_RING pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 68 0 0.00 35 16 31.37 - - - VSNL1 0 genome.wustl.edu 37 2 17836578 17836578 + Missense_Mutation SNP C C G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 2 17836578 17836578 C G SNP VSNL1 ENST00000295156 human ensembl 69_37n +1 known missense c.493 p.Q165E 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors VSNL1 HGNC ENSG00000163032 8 0 0.00 24 5 17.24 - - - WDFY3-AS2 0 genome.wustl.edu 37 4 85887858 85887858 + RNA SNP A A G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 4 85887858 85887858 A G SNP WDFY3-AS2 ENST00000451762 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors WDFY3-AS2 HGNC ENSG00000180769 62 0 0.00 21 18 46.15 - - - WDR44 0 genome.wustl.edu 37 X 117527021 117527021 + Missense_Mutation SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 X 117527021 117527021 G A SNP WDR44 ENST00000254029 human ensembl 69_37n +1 known missense c.613 p.A205T 0.637 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 30 0 0.00 13 22 62.86 - - - ZNF167 0 genome.wustl.edu 37 3 44612064 44612064 + Missense_Mutation SNP A A G TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 3 44612064 44612064 A G SNP ZNF167 ENST00000273320 human ensembl 69_37n +1 known missense c.1462 p.T488A 0.012 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF167 HGNC ENSG00000196345 37 0 0.00 24 11 31.43 - - - ZNF239 0 genome.wustl.edu 37 10 44053585 44053585 + RNA SNP C C T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 10 44053585 44053585 C T SNP ZNF239 ENST00000491188 human ensembl 69_37n -1 known rna NULL NULL 0.654 - - - no_errors ZNF239 HGNC ENSG00000196793 26 0 0.00 29 4 12.12 - - - ZNF638 0 genome.wustl.edu 37 2 71576941 71576941 + Missense_Mutation SNP C C T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 2 71576941 71576941 C T SNP ZNF638 ENST00000264447 human ensembl 69_37n +1 known missense c.857 p.S286L 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 53 0 0.00 35 4 10.26 - - - ZNF804A 0 genome.wustl.edu 37 2 185800789 185800789 + Silent SNP G G A TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9f84743b-291f-4338-a7a8-0f2752236f22 d14e8c5a-fad9-4325-ac04-adaed184bd97 2 185800789 185800789 G A SNP ZNF804A ENST00000302277 human ensembl 69_37n +1 known silent c.666 p.A222 0.003 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 42 0 0.00 23 22 48.89 - - -