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 ACRC 0 genome.wustl.edu 37 X 70832732 70832732 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 X 70832732 70832732 C T SNP ACRC ENST00000373695 human ensembl 69_37n +1 known missense c.1976 p.S659L 0.987 pfam_SprT-like_domain,smart_SprT-like_domain pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 111 0 0.00 79 21 20.79 - - - ADCY4 0 genome.wustl.edu 37 14 24788604 24788604 + Missense_Mutation SNP G G C TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 14 24788604 24788604 G C SNP ADCY4 ENST00000310677 human ensembl 69_37n -1 known missense c.2772 p.I924M 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 174 0 0.00 188 31 14.16 - - - ADCY5 0 genome.wustl.edu 37 3 123038594 123038594 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 3 123038594 123038594 C T SNP ADCY5 ENST00000462833 human ensembl 69_37n -1 known missense c.2183 p.S728N 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 76 0 0.00 29 27 48.21 - - - AMPH 0 genome.wustl.edu 37 7 38431512 38431512 + Missense_Mutation SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 7 38431512 38431512 G A SNP AMPH ENST00000356264 human ensembl 69_37n -1 known missense c.1715 p.A572V 0.000 NULL pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 42 0 0.00 27 14 34.15 - - - AVPR2 0 genome.wustl.edu 37 X 153171699 153171699 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 X 153171699 153171699 C T SNP AVPR2 ENST00000337474 human ensembl 69_37n +1 known missense c.739 p.R247C 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Vprsn_rcpt_V2 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 82 0 0.00 44 25 34.72 - - - CC2D1A 0 genome.wustl.edu 37 19 14031724 14031724 + Missense_Mutation SNP G G C TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 19 14031724 14031724 G C SNP CC2D1A ENST00000318003 human ensembl 69_37n +1 known missense c.1630 p.D544H 1.000 smart_DM14 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1A HGNC ENSG00000132024 35 0 0.00 29 7 18.92 - - - CCDC60 0 genome.wustl.edu 37 12 119937943 119937943 + Silent SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 12 119937943 119937943 G A SNP CCDC60 ENST00000327554 human ensembl 69_37n +1 known silent c.618 p.Q206 1.000 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 79 0 0.00 38 11 22.45 - - - CDH20 0 genome.wustl.edu 37 18 59221741 59221741 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 18 59221741 59221741 C T SNP CDH20 ENST00000262717 human ensembl 69_37n +1 known missense c.2219 p.P740L 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 15 0 0.00 14 5 26.32 - - - CDH9 0 genome.wustl.edu 37 5 26881405 26881405 + Missense_Mutation SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 5 26881405 26881405 G A SNP CDH9 ENST00000231021 human ensembl 69_37n -1 known missense c.2210 p.T737M 0.999 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 131 0 0.00 90 41 31.30 - - - CIT 0 genome.wustl.edu 37 12 120287989 120287989 + Missense_Mutation SNP G G T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 12 120287989 120287989 G T SNP CIT ENST00000261833 human ensembl 69_37n -1 known missense c.505 p.H169N 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_Citron_Rho-interacting_kinase,pfscan_Prot_kinase_cat_dom pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC ENSG00000122966 121 1 0.82 50 31 38.27 - - - CNTLN 0 genome.wustl.edu 37 9 17484353 17484353 + Frame_Shift_Del DEL A A - TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 9 17484353 17484353 A - DEL CNTLN ENST00000380647 human ensembl 69_37n +1 known frame_shift_del c.3916 p.M1308fs 0.999 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 90 0 0.00 48 12 19.35 - - - COL6A5 0 genome.wustl.edu 37 3 130116894 130116894 + Silent SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 3 130116894 130116894 C T SNP COL6A5 ENST00000265379 human ensembl 69_37n +1 known silent c.3930 p.D1310 0.998 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 297 0 0.00 117 43 26.71 - - - CRB1 0 genome.wustl.edu 37 1 197326056 197326056 + Missense_Mutation SNP C C A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 1 197326056 197326056 C A SNP CRB1 ENST00000367400 human ensembl 69_37n +1 known missense c.1084 p.Q362K 0.070 pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 157 0 0.00 62 40 39.22 - - - CXorf57 0 genome.wustl.edu 37 X 105855472 105855472 + Missense_Mutation SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 X 105855472 105855472 G A SNP CXorf57 ENST00000372548 human ensembl 69_37n +1 known missense c.162 p.M54I 0.000 superfamily_NA-bd_OB-fold-like superfamily_NA-bd_OB-fold-like - no_errors CXorf57 HGNC ENSG00000147231 77 0 0.00 47 14 22.95 - - - DCDC5 0 genome.wustl.edu 37 11 30926690 30926690 + Missense_Mutation SNP C C A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 11 30926690 30926690 C A SNP DCDC5 ENST00000339794 human ensembl 69_37n -1 known missense c.1363 p.A455S 0.997 NULL pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC5 HGNC ENSG00000170959 101 0 0.00 64 16 20.00 - - - DIAPH3 0 genome.wustl.edu 37 13 60348934 60348934 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 13 60348934 60348934 C T SNP DIAPH3 ENST00000400324 human ensembl 69_37n -1 known missense c.3187 p.D1063N 1.000 pfam_Drf_DAD,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH3 HGNC ENSG00000139734 106 0 0.00 55 36 39.56 - - - EP300 0 genome.wustl.edu 37 22 41523564 41523564 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 22 41523564 41523564 C T SNP EP300 ENST00000263253 human ensembl 69_37n +1 known missense c.980 p.A327V 0.998 superfamily_Znf_TAZ pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 50 0 0.00 20 7 25.93 - - - FAM13A 0 genome.wustl.edu 37 4 89671660 89671660 + Missense_Mutation SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 4 89671660 89671660 G A SNP FAM13A ENST00000264344 human ensembl 69_37n -1 known missense c.1855 p.R619W 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 101 0 0.00 39 35 47.30 - - - FAM157B 0 genome.wustl.edu 37 9 141107536 141107537 + RNA INS - - GCA TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 9 141107536 141107537 - GCA INS FAM157B ENST00000446912 human ensembl 69_37n +1 known rna NULL NULL 0.033:0.036 - - - no_errors FAM157B HGNC ENSG00000233013 51 0 0.00 30 10 25.00 - - - FAM217B 0 genome.wustl.edu 37 20 58519040 58519040 + Missense_Mutation SNP G G T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 20 58519040 58519040 G T SNP FAM217B ENST00000358293 human ensembl 69_37n +1 known missense c.42 p.K14N 0.000 NULL NULL - no_errors FAM217B HGNC ENSG00000196227 45 0 0.00 33 13 28.26 - - - FAM83G 0 genome.wustl.edu 37 17 18881643 18881643 + Missense_Mutation SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 17 18881643 18881643 G A SNP FAM83G ENST00000345041 human ensembl 69_37n -1 known missense c.1336 p.R446C 1.000 NULL pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 47 0 0.00 10 15 60.00 - - - GOLM1 0 genome.wustl.edu 37 9 88694123 88694123 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 9 88694123 88694123 C T SNP GOLM1 ENST00000388711 human ensembl 69_37n -1 known missense c.113 p.R38Q 1.000 NULL NULL - no_errors GOLM1 HGNC ENSG00000135052 31 0 0.00 22 6 21.43 - - - GRIN2B 0 genome.wustl.edu 37 12 13768551 13768551 + Missense_Mutation SNP C C A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 12 13768551 13768551 C A SNP GRIN2B ENST00000279593 human ensembl 69_37n -1 known missense c.1376 p.G459V 1.000 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000150086 103 0 0.00 61 62 49.21 - - - HSD17B1 0 genome.wustl.edu 37 17 40706477 40706477 + Frame_Shift_Del DEL G G - TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 17 40706477 40706477 G - DEL HSD17B1 ENST00000585807 human ensembl 69_37n +1 known frame_shift_del c.594 p.G199fs 0.239 pirsf_17beta_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B1 HGNC ENSG00000108786 29 0 0.00 10 2 16.67 - - - HSPA1L 0 genome.wustl.edu 37 6 31778018 31778018 + Missense_Mutation SNP C C G TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 6 31778018 31778018 C G SNP HSPA1L ENST00000375654 human ensembl 69_37n -1 known missense c.1732 p.E578Q 0.998 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 71 0 0.00 70 20 22.22 - - - HSPH1 0 genome.wustl.edu 37 13 31722195 31722195 + Missense_Mutation SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 13 31722195 31722195 G A SNP HSPH1 ENST00000445273 human ensembl 69_37n -1 known missense c.1285 p.P429S 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 92 0 0.00 47 23 32.86 - - - ITGAX 0 genome.wustl.edu 37 16 31391336 31391336 + Missense_Mutation SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 16 31391336 31391336 G A SNP ITGAX ENST00000268296 human ensembl 69_37n +1 known missense c.3010 p.A1004T 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAX HGNC ENSG00000140678 38 0 0.00 27 5 15.62 - - - KCNB1 0 genome.wustl.edu 37 20 47990860 47990860 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 20 47990860 47990860 C T SNP KCNB1 ENST00000371741 human ensembl 69_37n -1 known missense c.1237 p.V413I 1.000 pfam_Ion_trans_2,prints_K_chnl,prints_K_chnl_volt-dep_Kv9 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 61 0 0.00 20 14 41.18 - - - KIAA1239 0 genome.wustl.edu 37 4 37448786 37448786 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 4 37448786 37448786 C T SNP KIAA1239 ENST00000309447 human ensembl 69_37n +1 known missense c.5176 p.R1726W 0.866 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 40 0 0.00 23 7 23.33 - - - LCA5 0 genome.wustl.edu 37 6 80198927 80198927 + Nonsense_Mutation SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 6 80198927 80198927 G A SNP LCA5 ENST00000369846 human ensembl 69_37n -1 known nonsense c.1105 p.Q369* 0.008 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 230 0 0.00 171 39 18.57 - - - LRP1B 0 genome.wustl.edu 37 2 141081533 141081533 + Missense_Mutation SNP A A G TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 2 141081533 141081533 A G SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known missense c.12443 p.V4148A 1.000 superfamily_Growth_fac_rcpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 80 0 0.00 42 20 32.26 - - - LRRC1 0 genome.wustl.edu 37 6 53784398 53784398 + Silent SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 6 53784398 53784398 C T SNP LRRC1 ENST00000370888 human ensembl 69_37n +1 known silent c.1209 p.D403 0.998 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 134 0 0.00 97 34 25.95 - - - LUM 0 genome.wustl.edu 37 12 91502039 91502039 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 12 91502039 91502039 C T SNP LUM ENST00000266718 human ensembl 69_37n -1 known missense c.718 p.E240K 1.000 pfam_Leu-rich_rpt pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LUM HGNC ENSG00000139329 165 0 0.00 106 51 32.48 - - - MARK1 0 genome.wustl.edu 37 1 220791767 220791767 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 1 220791767 220791767 C T SNP MARK1 ENST00000366917 human ensembl 69_37n +1 known missense c.668 p.A223V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK1 HGNC ENSG00000116141 107 0 0.00 40 18 31.03 - - - MTO1 0 genome.wustl.edu 37 6 74171766 74171766 + Silent SNP G G T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 6 74171766 74171766 G T SNP MTO1 ENST00000415954 human ensembl 69_37n +1 known silent c.189 p.L63 1.000 pfam_GIDA-rel,pfam_FAD_bind_dom,tigrfam_GidA pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA - no_errors MTO1 HGNC ENSG00000135297 13 0 0.00 24 9 26.47 - - - NHS 0 genome.wustl.edu 37 X 17744275 17744275 + Silent SNP G G C TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 X 17744275 17744275 G C SNP NHS ENST00000380060 human ensembl 69_37n +1 known silent c.1986 p.V662 0.627 NULL NULL - no_errors NHS HGNC ENSG00000188158 70 0 0.00 49 8 14.04 - - - NPHP4 0 genome.wustl.edu 37 1 5927909 5927909 + Silent SNP C C G TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 1 5927909 5927909 C G SNP NPHP4 ENST00000378156 human ensembl 69_37n -1 known silent c.3363 p.L1121 0.978 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 36 0 0.00 28 6 17.14 - - - ONECUT3 0 genome.wustl.edu 37 19 1754710 1754710 + Missense_Mutation SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 19 1754710 1754710 G A SNP ONECUT3 ENST00000382349 human ensembl 69_37n +1 known missense c.1049 p.C350Y 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors ONECUT3 HGNC ENSG00000205922 22 0 0.00 5 11 68.75 - - - PPM1E 0 genome.wustl.edu 37 17 56833490 56833490 + Silent SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 17 56833490 56833490 G A SNP PPM1E ENST00000308249 human ensembl 69_37n +1 known silent c.132 p.E44 0.898 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1E HGNC ENSG00000175175 21 0 0.00 13 5 27.78 - - - PPM1E 0 genome.wustl.edu 37 17 56833491 56833491 + Missense_Mutation SNP T T C TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 17 56833491 56833491 T C SNP PPM1E ENST00000308249 human ensembl 69_37n +1 known missense c.133 p.S45P 0.787 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1E HGNC ENSG00000175175 22 0 0.00 13 5 27.78 - - - PTPN21 0 genome.wustl.edu 37 14 88962792 88962792 + Silent SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 14 88962792 88962792 C T SNP PTPN21 ENST00000328736 human ensembl 69_37n -1 known silent c.897 p.A299 0.121 pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 80 0 0.00 42 8 15.69 - - - RBM12 0 genome.wustl.edu 37 20 34242060 34242060 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 20 34242060 34242060 C T SNP RBM12 ENST00000359646 human ensembl 69_37n -1 known missense c.1185 p.M395I 0.999 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 110 0 0.00 99 15 13.16 - - - RCAN3 0 genome.wustl.edu 37 1 24857756 24857756 + Nonsense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 1 24857756 24857756 C T SNP RCAN3 ENST00000374395 human ensembl 69_37n +1 known nonsense c.244 p.Q82* 1.000 pfam_Calcipressin pfam_Calcipressin - no_errors RCAN3 HGNC ENSG00000117602 64 0 0.00 47 51 52.04 - - - RHO 0 genome.wustl.edu 37 3 129251571 129251571 + Missense_Mutation SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 3 129251571 129251571 G A SNP RHO ENST00000296271 human ensembl 69_37n +1 known missense c.892 p.A298T 0.150 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Rhodopsin,prints_7TM_GPCR_Rhodpsn,prints_Opsin,pfscan_GPCR_Rhodpsn_supfam - no_errors RHO HGNC ENSG00000163914 117 0 0.00 69 14 16.67 - - - RTL1 0 genome.wustl.edu 37 14 101349520 101349520 + Missense_Mutation SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 14 101349520 101349520 G A SNP RTL1 ENST00000534062 human ensembl 69_37n -1 known missense c.1606 p.R536C 0.988 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 51 0 0.00 5 12 70.59 - - - SCMH1 0 genome.wustl.edu 37 1 41512122 41512122 + Silent SNP G G C TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 1 41512122 41512122 G C SNP SCMH1 ENST00000326197 human ensembl 69_37n -1 known silent c.1425 p.L475 0.388 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC ENSG00000010803 89 0 0.00 80 23 22.33 - - - SF3A1 0 genome.wustl.edu 37 22 30733776 30733776 + Silent SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 22 30733776 30733776 C T SNP SF3A1 ENST00000215793 human ensembl 69_37n -1 known silent c.1854 p.P618 0.043 NULL pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin,superfamily_Surp,smart_Surp,smart_Ubiquitin,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 38 0 0.00 23 12 34.29 - - - ST3GAL3 0 genome.wustl.edu 37 1 44363942 44363942 + Missense_Mutation SNP G G C TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 1 44363942 44363942 G C SNP ST3GAL3 ENST00000262915 human ensembl 69_37n +1 known missense c.640 p.E214Q 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL3 HGNC ENSG00000126091 83 0 0.00 81 19 18.81 - - - SUGP1 0 genome.wustl.edu 37 19 19407828 19407828 + Missense_Mutation SNP C C A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 19 19407828 19407828 C A SNP SUGP1 ENST00000247001 human ensembl 69_37n -1 known missense c.1213 p.D405Y 0.974 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 25 0 0.00 10 10 50.00 - - - TBX22 0 genome.wustl.edu 37 X 79278719 79278719 + Missense_Mutation SNP G G T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 X 79278719 79278719 G T SNP TBX22 ENST00000373294 human ensembl 69_37n +1 known missense c.336 p.M112I 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 71 0 0.00 47 20 29.85 - - - THSD7B 0 genome.wustl.edu 37 2 138208561 138208561 + Nonsense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 2 138208561 138208561 C T SNP THSD7B ENST00000272643 human ensembl 69_37n +1 known nonsense c.3106 p.R1036* 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 95 0 0.00 82 10 10.87 - - - TMCO3 0 genome.wustl.edu 37 13 114150035 114150035 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 13 114150035 114150035 C T SNP TMCO3 ENST00000434316 human ensembl 69_37n +1 known missense c.139 p.R47W 0.016 NULL pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 42 0 0.00 15 15 50.00 - - - TP53 0 genome.wustl.edu 37 17 7578431 7578431 + Nonsense_Mutation SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 17 7578431 7578431 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.499 p.Q167* 0.998 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 50 0 0.00 6 16 72.73 - - - TRIOBP 0 genome.wustl.edu 37 22 38130806 38130806 + Frame_Shift_Del DEL G G - TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 22 38130806 38130806 G - DEL TRIOBP ENST00000406386 human ensembl 69_37n +1 known frame_shift_del c.4463 p.Q1490fs 0.191 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 12 0 0.00 4 2 33.33 - - - TRPC6 0 genome.wustl.edu 37 11 101359736 101359736 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 11 101359736 101359736 C T SNP TRPC6 ENST00000344327 human ensembl 69_37n -1 known missense c.1225 p.V409M 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 56 0 0.00 21 5 19.23 - - - TRPM1 0 genome.wustl.edu 37 15 31334372 31334372 + Silent SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 15 31334372 31334372 G A SNP TRPM1 ENST00000542188 human ensembl 69_37n -1 known silent c.1920 p.D640 0.903 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 72 0 0.00 35 6 14.63 - - - TUBB6 0 genome.wustl.edu 37 18 12325960 12325960 + Missense_Mutation SNP G G A TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 18 12325960 12325960 G A SNP TUBB6 ENST00000317702 human ensembl 69_37n +1 known missense c.1172 p.R391H 1.000 superfamily_Tub_FtsZ_C,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB6 HGNC ENSG00000176014 61 0 0.00 29 5 14.71 - - - USP9X 0 genome.wustl.edu 37 X 41012240 41012240 + Silent SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 X 41012240 41012240 C T SNP USP9X ENST00000324545 human ensembl 69_37n +1 known silent c.1803 p.D601 0.984 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 283 0 0.00 241 59 19.67 - - - VAV3 0 genome.wustl.edu 37 1 108507315 108507317 + In_Frame_Del DEL CTC CTC - TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 1 108507315 108507317 CTC - DEL VAV3 ENST00000370056 human ensembl 69_37n -1 known in_frame_del c.177_175 p.E59in_frame_del 1.000:1.000:1.000 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 33 0 0.00 13 8 38.10 - - - ZBTB2 0 genome.wustl.edu 37 6 151687962 151687962 + Missense_Mutation SNP A A T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 6 151687962 151687962 A T SNP ZBTB2 ENST00000325144 human ensembl 69_37n -1 known missense c.239 p.M80K 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB2 HGNC ENSG00000181472 22 0 0.00 18 15 44.12 - - - ZEB1 0 genome.wustl.edu 37 10 31809597 31809597 + Missense_Mutation SNP A A G TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 10 31809597 31809597 A G SNP ZEB1 ENST00000361642 human ensembl 69_37n +1 known missense c.1337 p.N446S 0.287 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 52 0 0.00 17 17 50.00 - - - ZNF423 0 genome.wustl.edu 37 16 49669753 49669753 + Missense_Mutation SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 381a9211-1f2b-4c14-895b-ee7fb6eb8c7f 1f6f5abe-614f-4f57-930c-e0ea2384cde6 16 49669753 49669753 C T SNP ZNF423 ENST00000262383 human ensembl 69_37n -1 known missense c.3310 p.V1104M 0.981 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 14 0 0.00 15 7 31.82 - - -