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 AIM1L 0 genome.wustl.edu 37 1 26658074 26658074 + Missense_Mutation SNP T T C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 1 26658074 26658074 T C SNP AIM1L ENST00000527815 human ensembl 69_37n -1 known missense c.1598 p.D533G 0.929 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 29 0 0.00 7 6 46.15 - - - APOBEC1 0 genome.wustl.edu 37 12 7802275 7802275 + Silent SNP T T C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 12 7802275 7802275 T C SNP APOBEC1 ENST00000229304 human ensembl 69_37n -1 known silent c.579 p.L193 0.058 NULL pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC1 HGNC ENSG00000111701 51 0 0.00 40 8 16.67 - - - ASNSD1 0 genome.wustl.edu 37 2 190530910 190530910 + Missense_Mutation SNP G G C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 2 190530910 190530910 G C SNP ASNSD1 ENST00000260952 human ensembl 69_37n +1 known missense c.52 p.D18H 0.081 NULL pfam_Asn_synthase - no_errors ASNSD1 HGNC ENSG00000138381 30 0 0.00 41 13 24.07 - - - ASTE1 0 genome.wustl.edu 37 3 130743882 130743882 + Missense_Mutation SNP G G T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 3 130743882 130743882 G T SNP ASTE1 ENST00000264992 human ensembl 69_37n -1 known missense c.269 p.T90K 0.000 pfam_XPG_DNA_repair_N pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 60 0 0.00 75 16 17.58 - - - ASTN1 0 genome.wustl.edu 37 1 176926869 176926869 + Missense_Mutation SNP C C A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 1 176926869 176926869 C A SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known missense c.1856 p.C619F 1.000 smart_EGF-like superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 22 0 0.00 23 5 17.86 - - - BRCA1 0 genome.wustl.edu 37 17 41245615 41245617 + In_Frame_Del DEL AAC AAC - TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 17 41245615 41245617 AAC - DEL BRCA1 ENST00000471181 human ensembl 69_37n -1 known in_frame_del c.1933_1931 p.C644in_frame_del 0.863:0.861:0.848 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 44 0 0.00 22 4 14.29 - - - C9orf163 0 genome.wustl.edu 37 9 139379382 139379382 + Nonsense_Mutation SNP G G A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 9 139379382 139379382 G A SNP C9orf163 ENST00000354376 human ensembl 69_37n +1 known nonsense c.482 p.W161* 0.000 NULL NULL - no_errors C9orf163 HGNC ENSG00000196366 31 0 0.00 17 6 26.09 - - - CACNG5 0 genome.wustl.edu 37 17 64876780 64876780 + Silent SNP G G A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 17 64876780 64876780 G A SNP CACNG5 ENST00000169565 human ensembl 69_37n +1 known silent c.390 p.L130 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 69 0 0.00 63 10 13.70 - - - CERS5 0 genome.wustl.edu 37 12 50524370 50524370 + Silent SNP C C G TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 12 50524370 50524370 C G SNP CERS5 ENST00000317551 human ensembl 69_37n -1 known silent c.1137 p.R379 0.346 NULL pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS5 HGNC ENSG00000139624 59 0 0.00 48 6 10.91 - - - CIT 0 genome.wustl.edu 37 12 120150414 120150414 + Missense_Mutation SNP C C A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 12 120150414 120150414 C A SNP CIT ENST00000261833 human ensembl 69_37n -1 known missense c.4540 p.A1514S 0.754 smart_Pleckstrin_homology,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology 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 15 0 0.00 18 5 21.74 - - - CTNNA2 0 genome.wustl.edu 37 2 80773146 80773146 + Missense_Mutation SNP G G C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 2 80773146 80773146 G C SNP CTNNA2 ENST00000361291 human ensembl 69_37n +1 known missense c.1600 p.V534L 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 23 0 0.00 32 14 30.43 - - - CYBRD1 0 genome.wustl.edu 37 2 172411303 172411303 + Missense_Mutation SNP C C T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 2 172411303 172411303 C T SNP CYBRD1 ENST00000321348 human ensembl 69_37n +1 known missense c.827 p.A276V 0.000 NULL pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYBRD1 HGNC ENSG00000071967 27 0 0.00 9 7 43.75 - - - DDX55 0 genome.wustl.edu 37 12 124104154 124104155 + Frame_Shift_Del DEL AA AA - TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 12 124104154 124104155 AA - DEL DDX55 ENST00000238146 human ensembl 69_37n +1 known frame_shift_del c.1509_1510 p.K506fs 0.942:0.875 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX55 HGNC ENSG00000111364 23 0 0.00 23 4 14.29 - - - DMGDH 0 genome.wustl.edu 37 5 78338302 78338302 + Missense_Mutation SNP A A T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 5 78338302 78338302 A T SNP DMGDH ENST00000255189 human ensembl 69_37n -1 known missense c.997 p.F333I 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 29 0 0.00 2 10 76.92 - - - DNAH17 0 genome.wustl.edu 37 17 76482127 76482127 + Missense_Mutation SNP T T A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 17 76482127 76482127 T A SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known missense c.7148 p.Y2383F 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 32 0 0.00 44 11 19.30 - - - DNMT3L 0 genome.wustl.edu 37 21 45670749 45670749 + Missense_Mutation SNP C C A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 21 45670749 45670749 C A SNP DNMT3L ENST00000270172 human ensembl 69_37n -1 known missense c.853 p.V285L 0.948 NULL superfamily_Znf_FYVE_PHD - no_errors DNMT3L HGNC ENSG00000142182 15 0 0.00 12 5 29.41 - - - DSG4 0 genome.wustl.edu 37 18 28991149 28991149 + Missense_Mutation SNP T T C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 18 28991149 28991149 T C SNP DSG4 ENST00000359747 human ensembl 69_37n +1 known missense c.2150 p.L717P 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin,pfscan_Cadherin - no_errors DSG4 HGNC ENSG00000175065 56 0 0.00 47 6 11.11 - - - EIF2AK4 0 genome.wustl.edu 37 15 40265856 40265856 + Missense_Mutation SNP T T C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 15 40265856 40265856 T C SNP EIF2AK4 ENST00000263791 human ensembl 69_37n +1 known missense c.1724 p.F575S 1.000 pirsf_Ser/Thr_kinase_GCN2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK4 HGNC ENSG00000128829 34 0 0.00 20 7 25.93 - - - EPS8L1 0 genome.wustl.edu 37 19 55597838 55597838 + Missense_Mutation SNP C C G TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 19 55597838 55597838 C G SNP EPS8L1 ENST00000201647 human ensembl 69_37n +1 known missense c.1729 p.R577G 0.990 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 22 0 0.00 22 6 21.43 - - - FAM47A 0 genome.wustl.edu 37 X 34148765 34148765 + Missense_Mutation SNP C C T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c X 34148765 34148765 C T SNP FAM47A ENST00000346193 human ensembl 69_37n -1 known missense c.1631 p.R544H 0.010 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 39 0 0.00 19 11 36.67 - - - FAM49B 0 genome.wustl.edu 37 8 130891704 130891704 + Missense_Mutation SNP C C A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 8 130891704 130891704 C A SNP FAM49B ENST00000401979 human ensembl 69_37n -1 known missense c.4 p.G2W 1.000 NULL pfam_DUF1394 - no_errors FAM49B HGNC ENSG00000153310 44 0 0.00 67 10 12.99 - - - FBXL7 0 genome.wustl.edu 37 5 15500794 15500794 + Silent SNP G G C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 5 15500794 15500794 G C SNP FBXL7 ENST00000504595 human ensembl 69_37n +1 known silent c.9 p.A3 1.000 NULL pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL7 HGNC ENSG00000183580 20 0 0.00 32 7 17.95 - - - FRG1 0 genome.wustl.edu 37 4 190878577 190878577 + Missense_Mutation SNP A A G TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 4 190878577 190878577 A G SNP FRG1 ENST00000226798 human ensembl 69_37n +1 known missense c.457 p.N153D 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FRG1 HGNC ENSG00000109536 68 0 0.00 41 6 12.77 - - - GNAI3 0 genome.wustl.edu 37 1 110121878 110121878 + Missense_Mutation SNP T T C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 1 110121878 110121878 T C SNP GNAI3 ENST00000369851 human ensembl 69_37n +1 known missense c.356 p.M119T 1.000 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA - no_errors GNAI3 HGNC ENSG00000065135 45 0 0.00 17 7 29.17 - - - HERC3 0 genome.wustl.edu 37 4 89577057 89577057 + Missense_Mutation SNP G G A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 4 89577057 89577057 G A SNP HERC3 ENST00000264345 human ensembl 69_37n +1 known missense c.940 p.G314R 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC3 HGNC ENSG00000138641 96 0 0.00 64 11 14.67 - - - HRC 0 genome.wustl.edu 37 19 49656737 49656737 + Missense_Mutation SNP G G C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 19 49656737 49656737 G C SNP HRC ENST00000252825 human ensembl 69_37n -1 known missense c.1758 p.I586M 1.000 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 16 0 0.00 17 6 26.09 - - - INTS6 0 genome.wustl.edu 37 13 51948544 51948544 + Missense_Mutation SNP A A C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 13 51948544 51948544 A C SNP INTS6 ENST00000311234 human ensembl 69_37n -1 known missense c.1904 p.V635G 1.000 NULL pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC ENSG00000102786 60 0 0.00 31 11 26.19 - - - ITGB4 0 genome.wustl.edu 37 17 73723282 73723282 + Silent SNP C C A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 17 73723282 73723282 C A SNP ITGB4 ENST00000200181 human ensembl 69_37n +1 known silent c.87 p.R29 1.000 pirsf_Integrin_bsu-4,superfamily_Plexin-like_fold,smart_Plexin-like pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_Integrin_bsu - no_errors ITGB4 HGNC ENSG00000132470 17 0 0.00 23 7 23.33 - - - KIAA1429 0 genome.wustl.edu 37 8 95504889 95504889 + Missense_Mutation SNP A A T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 8 95504889 95504889 A T SNP KIAA1429 ENST00000297591 human ensembl 69_37n -1 known missense c.4799 p.I1600K 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 82 0 0.00 105 14 11.76 - - - KIR2DL2 0 genome.wustl.edu 37 GL000209.1 95619 95619 + Missense_Mutation SNP G G T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c GL000209.1 95619 95619 G T SNP KIR2DL2 ENST00000391731 human ensembl 69_37n +1 known missense c.1005 p.K335N NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 62 0 0.00 46 16 25.81 - - - KRT9 0 genome.wustl.edu 37 17 39724452 39724452 + Silent SNP C C T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 17 39724452 39724452 C T SNP KRT9 ENST00000246662 human ensembl 69_37n -1 known silent c.1356 p.E452 0.004 pfam_F pfam_F,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 49 0 0.00 24 5 17.24 - - - LRRC40 0 genome.wustl.edu 37 1 70621394 70621394 + Missense_Mutation SNP G G C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 1 70621394 70621394 G C SNP LRRC40 ENST00000370952 human ensembl 69_37n -1 known missense c.1306 p.Q436E 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC40 HGNC ENSG00000066557 104 0 0.00 67 21 23.86 - - - METTL21A 0 genome.wustl.edu 37 2 208477909 208477909 + Missense_Mutation SNP C C T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 2 208477909 208477909 C T SNP METTL21A ENST00000406927 human ensembl 69_37n -1 known missense c.518 p.C173Y 1.000 pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom - no_errors METTL21A HGNC ENSG00000144401 64 0 0.00 31 22 41.51 - - - MPG 0 genome.wustl.edu 37 16 129524 129524 + Missense_Mutation SNP G G C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 16 129524 129524 G C SNP MPG ENST00000219431 human ensembl 69_37n +1 known missense c.140 p.S47T 0.000 NULL pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse - no_errors MPG HGNC ENSG00000103152 17 0 0.00 16 6 27.27 - - - MTR 0 genome.wustl.edu 37 1 237015844 237015844 + Silent SNP A A C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 1 237015844 237015844 A C SNP MTR ENST00000366577 human ensembl 69_37n +1 known silent c.1719 p.I573 1.000 pfam_Pterin-binding,superfamily_Dihydropteroate_synth-like,pirsf_MetH,pfscan_Pterin-binding,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 29 0 0.00 26 8 23.53 - - - NLRP12 0 genome.wustl.edu 37 19 54299149 54299149 + Missense_Mutation SNP C C T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 19 54299149 54299149 C T SNP NLRP12 ENST00000391773 human ensembl 69_37n -1 known missense c.3065 p.R1022Q 0.507 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 21 0 0.00 21 10 32.26 - - - OR6K6 0 genome.wustl.edu 37 1 158725496 158725496 + Missense_Mutation SNP G G C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 1 158725496 158725496 G C SNP OR6K6 ENST00000368144 human ensembl 69_37n +1 known missense c.891 p.W297C 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 79 0 0.00 97 20 17.09 - - - PCDHB8 0 genome.wustl.edu 37 5 140558924 140558924 + Missense_Mutation SNP A A T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 5 140558924 140558924 A T SNP PCDHB8 ENST00000239444 human ensembl 69_37n +1 known missense c.1309 p.N437Y 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 82 0 0.00 68 9 11.69 - - - PDE4B 0 genome.wustl.edu 37 1 66833528 66833528 + Missense_Mutation SNP G G A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 1 66833528 66833528 G A SNP PDE4B ENST00000329654 human ensembl 69_37n +1 known missense c.1534 p.D512N 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 76 0 0.00 44 12 21.05 - - - PIK3CA 0 genome.wustl.edu 37 3 178951957 178951957 + Missense_Mutation SNP G G A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 3 178951957 178951957 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3012 p.M1004I 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 40 0 0.00 36 26 41.94 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 31 0 0.00 25 19 43.18 - - - PLEKHH2 0 genome.wustl.edu 37 2 43924309 43924309 + Splice_Site SNP G G C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 2 43924309 43924309 G C SNP PLEKHH2 ENST00000282406 human ensembl 69_37n +1 known splice_site c.503-1 e6-1 1.000 - - - no_errors PLEKHH2 HGNC ENSG00000152527 38 0 0.00 39 12 23.53 - - - PLXNA2 0 genome.wustl.edu 37 1 208224737 208224737 + Missense_Mutation SNP G G C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 1 208224737 208224737 G C SNP PLXNA2 ENST00000367033 human ensembl 69_37n -1 known missense c.3025 p.P1009A 0.996 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC ENSG00000076356 16 0 0.00 20 4 16.67 - - - PORCN 0 genome.wustl.edu 37 X 48372917 48372917 + Silent SNP C C T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c X 48372917 48372917 C T SNP PORCN ENST00000326194 human ensembl 69_37n +1 known silent c.850 p.L284 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 28 0 0.00 14 20 58.82 - - - PRSS27 0 genome.wustl.edu 37 16 2763623 2763623 + Silent SNP G G A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 16 2763623 2763623 G A SNP PRSS27 ENST00000302641 human ensembl 69_37n -1 known silent c.585 p.Y195 0.994 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS27 HGNC ENSG00000172382 83 0 0.00 55 15 21.43 - - - RAB1A 0 genome.wustl.edu 37 2 65315695 65315695 + Missense_Mutation SNP C C A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 2 65315695 65315695 C A SNP RAB1A ENST00000409784 human ensembl 69_37n -1 known missense c.550 p.G184C 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB1A HGNC ENSG00000138069 42 0 0.00 44 10 18.52 - - - RASL11B 0 genome.wustl.edu 37 4 53731600 53731600 + Silent SNP C C T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 4 53731600 53731600 C T SNP RASL11B ENST00000248706 human ensembl 69_37n +1 known silent c.375 p.S125 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,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_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASL11B HGNC ENSG00000128045 20 0 0.00 25 8 24.24 - - - RIMS2 0 genome.wustl.edu 37 8 104897774 104897774 + Missense_Mutation SNP G G A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 8 104897774 104897774 G A SNP RIMS2 ENST00000406091 human ensembl 69_37n +1 known missense c.947 p.S316N 0.982 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 49 0 0.00 31 11 26.19 - - - SCNN1B 0 genome.wustl.edu 37 16 23360076 23360076 + Nonsense_Mutation SNP G G A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 16 23360076 23360076 G A SNP SCNN1B ENST00000307331 human ensembl 69_37n +1 known nonsense c.291 p.W97* 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC ENSG00000168447 51 0 0.00 26 8 23.53 - - - SENP3 0 genome.wustl.edu 37 17 7468905 7468905 + Splice_Site SNP G G C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 17 7468905 7468905 G C SNP SENP3 ENST00000429205 human ensembl 69_37n +1 known splice_site c.1215+1 e4+1 1.000 - - - no_errors SENP3 HGNC ENSG00000161956 38 0 0.00 16 13 44.83 - - - SERTAD4 0 genome.wustl.edu 37 1 210415039 210415039 + Missense_Mutation SNP T T C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 1 210415039 210415039 T C SNP SERTAD4 ENST00000367012 human ensembl 69_37n +1 known missense c.428 p.I143T 0.999 pfam_SERTA,pfscan_SERTA pfam_SERTA,pfscan_SERTA - no_errors SERTAD4 HGNC ENSG00000082497 34 0 0.00 34 15 30.61 - - - SNTG2 0 genome.wustl.edu 37 2 1079205 1079205 + Missense_Mutation SNP C C T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 2 1079205 1079205 C T SNP SNTG2 ENST00000308624 human ensembl 69_37n +1 known missense c.74 p.T25M 0.995 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 44 0 0.00 37 12 24.49 - - - SORBS1 0 genome.wustl.edu 37 10 97096374 97096374 + Silent SNP C C G TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 10 97096374 97096374 C G SNP SORBS1 ENST00000361941 human ensembl 69_37n -1 known silent c.3543 p.L1181 0.984 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 21 0 0.00 21 8 27.59 - - - SPTA1 0 genome.wustl.edu 37 1 158608032 158608032 + Splice_Site SNP C C G TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 1 158608032 158608032 C G SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known splice_site c.4981-1 e36-1 1.000 - - - no_errors SPTA1 HGNC ENSG00000163554 33 0 0.00 20 8 28.57 - - - SRRD 0 genome.wustl.edu 37 22 26884128 26884128 + Silent SNP A A C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 22 26884128 26884128 A C SNP SRRD ENST00000215917 human ensembl 69_37n +1 known silent c.384 p.P128 0.000 NULL pfam_SRR1-like - no_errors SRRD HGNC ENSG00000100104 53 0 0.00 42 10 19.23 - - - SS18 0 genome.wustl.edu 37 18 23612480 23612480 + Silent SNP A A G TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 18 23612480 23612480 A G SNP SS18 ENST00000415083 human ensembl 69_37n -1 known silent c.1113 p.G371 0.970 NULL pfam_SSXT - no_errors SS18 HGNC ENSG00000141380 46 0 0.00 28 12 30.00 - - - SSRP1 0 genome.wustl.edu 37 11 57099707 57099707 + Missense_Mutation SNP G G A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 11 57099707 57099707 G A SNP SSRP1 ENST00000278412 human ensembl 69_37n -1 known missense c.920 p.S307L 1.000 pfam_SSRP1_dom pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition - no_errors SSRP1 HGNC ENSG00000149136 28 0 0.00 16 6 27.27 - - - STK31 0 genome.wustl.edu 37 7 23827704 23827704 + Missense_Mutation SNP C C T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 7 23827704 23827704 C T SNP STK31 ENST00000355870 human ensembl 69_37n +1 known missense c.2593 p.R865C 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,pfscan_Prot_kinase_cat_dom pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom - no_errors STK31 HGNC ENSG00000196335 36 0 0.00 22 10 31.25 - - - TLR5 0 genome.wustl.edu 37 1 223286092 223286092 + Silent SNP C C A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 1 223286092 223286092 C A SNP TLR5 ENST00000342210 human ensembl 69_37n -1 known silent c.282 p.L94 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 24 0 0.00 31 8 20.00 - - - TNFAIP3 0 genome.wustl.edu 37 6 138197148 138197148 + Missense_Mutation SNP G G C TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 6 138197148 138197148 G C SNP TNFAIP3 ENST00000237289 human ensembl 69_37n +1 known missense c.650 p.S217T 1.000 pfam_OTU,pfscan_OTU pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 31 0 0.00 26 8 23.53 - - - TNPO2 0 genome.wustl.edu 37 19 12816348 12816348 + Silent SNP C C T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 19 12816348 12816348 C T SNP TNPO2 ENST00000425528 human ensembl 69_37n -1 known silent c.1821 p.Q607 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 14 0 0.00 15 5 25.00 - - - UGT2B15 0 genome.wustl.edu 37 4 69512933 69512933 + Silent SNP C C G TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 4 69512933 69512933 C G SNP UGT2B15 ENST00000338206 human ensembl 69_37n -1 known silent c.1482 p.V494 0.949 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 75 0 0.00 45 12 21.05 - - - UNC80 0 genome.wustl.edu 37 2 210860284 210860284 + Frame_Shift_Del DEL A A - TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 2 210860284 210860284 A - DEL UNC80 ENST00000439458 human ensembl 69_37n +1 known frame_shift_del c.9742 p.T3249fs 0.998 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 18 0 0.00 14 2 12.50 - - - VAV3 0 genome.wustl.edu 37 1 108292204 108292204 + Missense_Mutation SNP T T G TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 1 108292204 108292204 T G SNP VAV3 ENST00000370056 human ensembl 69_37n -1 known missense c.1272 p.L424F 0.983 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 82 0 0.00 34 5 12.82 - - - WBP11P1 0 genome.wustl.edu 37 18 30092638 30092638 + RNA SNP G G A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 18 30092638 30092638 G A SNP WBP11P1 ENST00000567636 human ensembl 69_37n +1 known rna NULL NULL 0.329 - - - no_errors WBP11P1 HGNC ENSG00000260389 46 0 0.00 35 12 25.53 - - - WDR90 0 genome.wustl.edu 37 16 705776 705776 + Missense_Mutation SNP C C T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 16 705776 705776 C T SNP WDR90 ENST00000549091 human ensembl 69_37n +1 novel missense c.1853 p.P618L 0.913 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 18 0 0.00 5 9 64.29 - - - ZFP64 0 genome.wustl.edu 37 20 50701561 50701561 + Silent SNP G G A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 20 50701561 50701561 G A SNP ZFP64 ENST00000361387 human ensembl 69_37n -1 known silent c.1473 p.A491 0.996 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 17 0 0.00 24 5 17.24 - - - ZFR 0 genome.wustl.edu 37 5 32420120 32420120 + Missense_Mutation SNP C C A TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 5 32420120 32420120 C A SNP ZFR ENST00000265069 human ensembl 69_37n -1 known missense c.226 p.V76F 1.000 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 28 0 0.00 25 6 19.35 - - - ZNF175 0 genome.wustl.edu 37 19 52090259 52090259 + Silent SNP C C T TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 19 52090259 52090259 C T SNP ZNF175 ENST00000262259 human ensembl 69_37n +1 known silent c.675 p.D225 0.482 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 ZNF175 HGNC ENSG00000105497 20 0 0.00 18 8 30.77 - - - ZNF229 0 genome.wustl.edu 37 19 44934254 44934254 + Silent SNP A A G TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3b598d8-8a3b-4506-aa98-9fbc5b51afd4 de361418-e012-49b7-b32c-25ba92e5fd7c 19 44934254 44934254 A G SNP ZNF229 ENST00000588931 human ensembl 69_37n -1 known silent c.702 p.P234 0.001 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 ZNF229 HGNC ENSG00000167383 40 0 0.00 36 7 16.28 - - -