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 ABLIM2 0 genome.wustl.edu 37 4 8034384 8034384 + Silent SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 4 8034384 8034384 C T SNP ABLIM2 ENST00000361737 human ensembl 69_37n -1 known silent c.1071 p.T357 0.929 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 60 0 0.00 21 33 61.11 - - - ACOXL 0 genome.wustl.edu 37 2 111559229 111559229 + Missense_Mutation SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 2 111559229 111559229 G A SNP ACOXL ENST00000439055 human ensembl 69_37n +1 known missense c.548 p.G183D 0.930 superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase - no_errors ACOXL HGNC ENSG00000153093 111 0 0.00 86 30 25.86 - - - ADARB2 0 genome.wustl.edu 37 10 1246063 1246063 + Silent SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 10 1246063 1246063 G A SNP ADARB2 ENST00000381312 human ensembl 69_37n -1 known silent c.1707 p.G569 0.002 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 63 0 0.00 70 30 30.00 - - - AMMECR1L 0 genome.wustl.edu 37 2 128622763 128622763 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 2 128622763 128622763 C T SNP AMMECR1L ENST00000272647 human ensembl 69_37n -1 known missense c.838 p.V280M 1.000 pfam_AMMECR1_domain,pfscan_AMMECR1_domain pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1L HGNC ENSG00000144233 36 0 0.00 38 8 17.39 - - - ARHGAP40 0 genome.wustl.edu 37 20 37258255 37258255 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 20 37258255 37258255 C T SNP ARHGAP40 ENST00000373345 human ensembl 69_37n +1 known missense c.586 p.R196W 0.001 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP40 HGNC ENSG00000124143 35 0 0.00 32 9 21.95 - - - ARHGEF26 0 genome.wustl.edu 37 3 153943664 153943664 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 3 153943664 153943664 C T SNP ARHGEF26 ENST00000356448 human ensembl 69_37n +1 known missense c.1955 p.S652F 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 64 0 0.00 106 15 12.40 - - - BAP1 0 genome.wustl.edu 37 3 52440864 52440865 + Frame_Shift_Ins INS - - A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 3 52440864 52440865 - A INS BAP1 ENST00000460680 human ensembl 69_37n -1 known frame_shift_ins c.640_639 p.I213fs 1.000:0.846 pfam_Peptidase_C12 pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 57 0 0.00 7 30 81.08 - - - BNC2 0 genome.wustl.edu 37 9 16431421 16431421 + Silent SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 9 16431421 16431421 G A SNP BNC2 ENST00000411752 human ensembl 69_37n -1 known silent c.945 p.S315 0.000 NULL pfscan_Znf_C2H2 - no_start_codon BNC2 HGNC ENSG00000173068 51 0 0.00 92 25 21.37 - - - CACNA1E 0 genome.wustl.edu 37 1 181689359 181689359 + Missense_Mutation SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 1 181689359 181689359 G A SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known missense c.1769 p.R590Q 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 53 0 0.00 88 35 28.23 - - - CARD9 0 genome.wustl.edu 37 9 139258462 139258462 + RNA SNP A A G TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 9 139258462 139258462 A G SNP CARD9 ENST00000460290 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CARD9 HGNC ENSG00000187796 20 0 0.00 22 5 18.52 - - - CES1P1 0 genome.wustl.edu 37 16 55794533 55794533 + RNA SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 16 55794533 55794533 C T SNP CES1P1 ENST00000571348 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CES1P1 HGNC ENSG00000228695 99 0 0.00 49 27 35.53 - - - CGB1 0 genome.wustl.edu 37 19 49538955 49538955 + Missense_Mutation SNP G G T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 19 49538955 49538955 G T SNP CGB1 ENST00000301407 human ensembl 69_37n -1 known missense c.380 p.T127N 0.977 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB1 HGNC ENSG00000267631 83 0 0.00 77 24 23.76 - - - CHST9-AS1 0 genome.wustl.edu 37 18 24510658 24510658 + RNA SNP T T A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 18 24510658 24510658 T A SNP CHST9-AS1 ENST00000568797 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CHST9-AS1 HGNC ENSG00000260372 46 0 0.00 32 5 13.51 - - - CLCN7 0 genome.wustl.edu 37 16 1511617 1511617 + Missense_Mutation SNP G G C TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 16 1511617 1511617 G C SNP CLCN7 ENST00000382745 human ensembl 69_37n -1 known missense c.272 p.S91C 1.000 prints_Cl_channel-7 pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 54 0 0.00 55 22 28.57 - - - CNIH2 0 genome.wustl.edu 37 11 66045953 66045953 + Missense_Mutation SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 11 66045953 66045953 G A SNP CNIH2 ENST00000311445 human ensembl 69_37n +1 known missense c.26 p.C9Y 1.000 pfam_Cornichon pfam_Cornichon - no_errors CNIH2 HGNC ENSG00000174871 8 0 0.00 18 11 37.93 - - - CPSF1 0 genome.wustl.edu 37 8 145626185 145626185 + Missense_Mutation SNP T T C TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 8 145626185 145626185 T C SNP CPSF1 ENST00000349769 human ensembl 69_37n -1 known missense c.566 p.Y189C 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 56 0 0.00 43 38 46.91 - - - DIP2A 0 genome.wustl.edu 37 21 47983837 47983837 + Silent SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 21 47983837 47983837 C T SNP DIP2A ENST00000318711 human ensembl 69_37n +1 known silent c.4159 p.L1387 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 34 0 0.00 30 19 38.78 - - - DMD 0 genome.wustl.edu 37 X 31279129 31279129 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 X 31279129 31279129 C T SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.9229 p.E3077K 1.000 pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pirsf_Dystrophin/utrophin,pfscan_WW_Rsp5_WWP pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 38 0 0.00 25 17 40.48 - - - FAM75A6 0 genome.wustl.edu 37 9 43628235 43628235 + Missense_Mutation SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 9 43628235 43628235 G A SNP FAM75A6 ENST00000332857 human ensembl 69_37n -1 known missense c.452 p.P151L 0.000 NULL NULL - no_errors FAM75A6 HGNC ENSG00000185775 9 0 0.00 10 6 37.50 - - - FBLN1 0 genome.wustl.edu 37 22 45958895 45958895 + Missense_Mutation SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 22 45958895 45958895 G A SNP FBLN1 ENST00000262722 human ensembl 69_37n +1 known missense c.1801 p.A601T 1.000 pirsf_Fibulin-1 pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 55 0 0.00 44 23 34.33 - - - FBXL19 0 genome.wustl.edu 37 16 30939090 30939090 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 16 30939090 30939090 C T SNP FBXL19 ENST00000380310 human ensembl 69_37n +1 known missense c.493 p.R165C 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors FBXL19 HGNC ENSG00000099364 127 0 0.00 144 35 19.55 - - - FOXL2 0 genome.wustl.edu 37 3 138665358 138665358 + Missense_Mutation SNP C C A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 3 138665358 138665358 C A SNP FOXL2 ENST00000330315 human ensembl 69_37n -1 known missense c.207 p.E69D 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL2 HGNC ENSG00000183770 27 0 0.00 63 10 13.70 - - - GGN 0 genome.wustl.edu 37 19 38876632 38876632 + Missense_Mutation SNP C C A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 19 38876632 38876632 C A SNP GGN ENST00000334928 human ensembl 69_37n -1 known missense c.1270 p.G424C 0.855 NULL NULL - no_errors GGN HGNC ENSG00000179168 18 0 0.00 7 20 74.07 - - - GIGYF1 0 genome.wustl.edu 37 7 100284299 100284299 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 7 100284299 100284299 C T SNP GIGYF1 ENST00000275732 human ensembl 69_37n -1 known missense c.667 p.G223S 0.994 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 49 0 0.00 36 10 21.74 - - - HHIPL1 0 genome.wustl.edu 37 14 100118715 100118715 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 14 100118715 100118715 C T SNP HHIPL1 ENST00000330710 human ensembl 69_37n +1 known missense c.410 p.A137V 0.903 pfam_Folate_rcpt-like pfam_Srcr_rcpt,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors HHIPL1 HGNC ENSG00000182218 26 0 0.00 18 16 47.06 - - - HIST1H3B 0 genome.wustl.edu 37 6 26032052 26032052 + Missense_Mutation SNP G G T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 6 26032052 26032052 G T SNP HIST1H3B ENST00000244661 human ensembl 69_37n -1 known missense c.237 p.F79L 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3B HGNC ENSG00000124693 79 0 0.00 133 46 25.70 - - - HTR2C 0 genome.wustl.edu 37 X 114141231 114141231 + Nonsense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 X 114141231 114141231 C T SNP HTR2C ENST00000371950 human ensembl 69_37n +1 known nonsense c.535 p.R179* 0.946 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_5HT2C_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors HTR2C HGNC ENSG00000147246 103 0 0.00 125 79 38.54 - - - ITGA1 0 genome.wustl.edu 37 5 52227951 52227951 + Missense_Mutation SNP G G C TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 5 52227951 52227951 G C SNP ITGA1 ENST00000282588 human ensembl 69_37n +1 known missense c.2846 p.G949A 0.863 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 59 0 0.00 38 20 34.48 - - - KIAA1328 0 genome.wustl.edu 37 18 34647216 34647216 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 18 34647216 34647216 C T SNP KIAA1328 ENST00000280020 human ensembl 69_37n +1 known missense c.940 p.R314C 0.290 NULL NULL - no_errors KIAA1328 HGNC ENSG00000150477 62 0 0.00 41 14 25.45 - - - LILRA5 0 genome.wustl.edu 37 19 54823368 54823368 + Missense_Mutation SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 19 54823368 54823368 G A SNP LILRA5 ENST00000301219 human ensembl 69_37n -1 known missense c.175 p.R59W 0.000 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC ENSG00000187116 45 0 0.00 32 12 27.27 - - - LINC00200 0 genome.wustl.edu 37 10 1208631 1208631 + RNA SNP A A G TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 10 1208631 1208631 A G SNP LINC00200 ENST00000425630 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors LINC00200 HGNC ENSG00000229205 8 0 0.00 13 13 50.00 - - - LTK 0 genome.wustl.edu 37 15 41797455 41797455 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 15 41797455 41797455 C T SNP LTK ENST00000263800 human ensembl 69_37n -1 known missense c.1876 p.D626N 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,pfscan_Prot_kinase_cat_dom 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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LTK HGNC ENSG00000062524 37 0 0.00 34 13 27.66 - - - LUZP2 0 genome.wustl.edu 37 11 24759771 24759771 + Nonsense_Mutation SNP G G T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 11 24759771 24759771 G T SNP LUZP2 ENST00000336930 human ensembl 69_37n +1 known nonsense c.256 p.E86* 1.000 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 60 0 0.00 38 16 29.63 - - - MAEL 0 genome.wustl.edu 37 1 166959030 166959030 + Silent SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 1 166959030 166959030 C T SNP MAEL ENST00000367872 human ensembl 69_37n +1 known silent c.189 p.A63 0.934 pfam_HMG_superfamily,superfamily_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain - no_errors MAEL HGNC ENSG00000143194 42 0 0.00 52 9 14.75 - - - MAN1B1 0 genome.wustl.edu 37 9 139998223 139998223 + RNA SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 9 139998223 139998223 C T SNP MAN1B1 ENST00000540391 human ensembl 69_37n +1 known rna NULL NULL 0.521 - - - no_errors MAN1B1 HGNC ENSG00000177239 151 1 0.66 158 26 14.13 - - - MAVS 0 genome.wustl.edu 37 20 3846631 3846631 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 20 3846631 3846631 C T SNP MAVS ENST00000428216 human ensembl 69_37n +1 known missense c.1460 p.A487V 0.000 NULL NULL - no_errors MAVS HGNC ENSG00000088888 34 0 0.00 17 7 29.17 - - - MCF2L2 0 genome.wustl.edu 37 3 182947467 182947467 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 3 182947467 182947467 C T SNP MCF2L2 ENST00000328913 human ensembl 69_37n -1 known missense c.2032 p.E678K 0.998 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 19 0 0.00 28 5 15.15 - - - MCU 0 genome.wustl.edu 37 10 74451957 74451958 + In_Frame_Ins INS - - GGC TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 10 74451957 74451958 - GGC INS MCU ENST00000373053 human ensembl 69_37n +1 known in_frame_ins c.48_49 p.20in_frame_insG 1.000:0.997 NULL pfam_Coiled-coil-dom_prot_109_C - no_errors MCU HGNC ENSG00000156026 8 0 0.00 11 6 35.29 - - - MLLT4 0 genome.wustl.edu 37 6 168363149 168363149 + Missense_Mutation SNP G G C TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 6 168363149 168363149 G C SNP MLLT4 ENST00000366806 human ensembl 69_37n +1 known missense c.4849 p.E1617Q 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 79 0 0.00 93 13 12.26 - - - MOSPD1 0 genome.wustl.edu 37 X 134033520 134033520 + RNA SNP G G T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 X 134033520 134033520 G T SNP MOSPD1 ENST00000462060 human ensembl 69_37n -1 known rna NULL NULL 0.726 - - - no_errors MOSPD1 HGNC ENSG00000101928 64 0 0.00 77 13 14.44 - - - MSX2 0 genome.wustl.edu 37 5 174156477 174156477 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 5 174156477 174156477 C T SNP MSX2 ENST00000239243 human ensembl 69_37n +1 known missense c.695 p.A232V 0.996 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MSX2 HGNC ENSG00000120149 65 0 0.00 26 22 45.83 - - - MUS81 0 genome.wustl.edu 37 11 65633368 65633368 + Silent SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 11 65633368 65633368 G A SNP MUS81 ENST00000529742 human ensembl 69_37n +1 putative silent c.191 p.*64 1.000 NULL NULL - no_start_codon MUS81 HGNC ENSG00000172732 66 0 0.00 46 16 25.40 - - - NBPF1 0 genome.wustl.edu 37 1 16901044 16901044 + RNA SNP T T G TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 1 16901044 16901044 T G SNP NBPF1 ENST00000287968 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors NBPF1 HGNC ENSG00000219481 237 0 0.00 144 20 12.05 - - - NLRX1 0 genome.wustl.edu 37 11 119043620 119043620 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 11 119043620 119043620 C T SNP NLRX1 ENST00000292199 human ensembl 69_37n +1 known missense c.151 p.R51C 0.061 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 32 0 0.00 26 9 25.71 - - - NTN5 0 genome.wustl.edu 37 19 49164994 49164996 + In_Frame_Del DEL CTC CTC - TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 19 49164994 49164996 CTC - DEL NTN5 ENST00000270235 human ensembl 69_37n -1 known in_frame_del c.1410_1408 p.E470in_frame_del 0.961:1.000:1.000 superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Netrin_domain - no_errors NTN5 HGNC ENSG00000142233 9 0 0.00 2 4 66.67 - - - OAS2 0 genome.wustl.edu 37 12 113425098 113425098 + Missense_Mutation SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 12 113425098 113425098 G A SNP OAS2 ENST00000342315 human ensembl 69_37n +1 known missense c.433 p.A145T 0.871 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 23 0 0.00 21 5 19.23 - - - ODZ3 0 genome.wustl.edu 37 4 183720880 183720880 + Silent SNP C C A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 4 183720880 183720880 C A SNP ODZ3 ENST00000406950 human ensembl 69_37n +1 known silent c.7476 p.V2492 0.997 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ3 HGNC ENSG00000218336 26 0 0.00 16 6 27.27 - - - OGFRL1 0 genome.wustl.edu 37 6 72011241 72011241 + Missense_Mutation SNP A A G TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 6 72011241 72011241 A G SNP OGFRL1 ENST00000370435 human ensembl 69_37n +1 known missense c.845 p.Y282C 1.000 pfam_OGF_rcpt pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 58 0 0.00 84 14 14.29 - - - OR2Y1 0 genome.wustl.edu 37 5 180166345 180166345 + Silent SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 5 180166345 180166345 C T SNP OR2Y1 ENST00000307832 human ensembl 69_37n -1 known silent c.714 p.G238 0.039 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt 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 25 0 0.00 11 6 35.29 - - - OR52A5 0 genome.wustl.edu 37 11 5153189 5153189 + Silent SNP G G T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 11 5153189 5153189 G T SNP OR52A5 ENST00000307388 human ensembl 69_37n -1 known silent c.684 p.V228 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 OR52A5 HGNC ENSG00000171944 26 0 0.00 23 6 20.69 - - - PALLD 0 genome.wustl.edu 37 4 169611772 169611772 + Missense_Mutation SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 4 169611772 169611772 G A SNP PALLD ENST00000261509 human ensembl 69_37n +1 known missense c.1354 p.V452M 0.692 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PALLD HGNC ENSG00000129116 59 0 0.00 31 16 34.04 - - - PLEKHA6 0 genome.wustl.edu 37 1 204199663 204199663 + Missense_Mutation SNP C C A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 1 204199663 204199663 C A SNP PLEKHA6 ENST00000272203 human ensembl 69_37n -1 known missense c.2461 p.V821L 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 58 0 0.00 56 51 47.66 - - - PLEKHF1 0 genome.wustl.edu 37 19 30165101 30165101 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 19 30165101 30165101 C T SNP PLEKHF1 ENST00000436066 human ensembl 69_37n +1 known missense c.355 p.R119C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel - no_errors PLEKHF1 HGNC ENSG00000166289 54 0 0.00 55 17 23.61 - - - PNISR 0 genome.wustl.edu 37 6 99848141 99848141 + RNA SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 6 99848141 99848141 C T SNP PNISR ENST00000481229 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors PNISR HGNC ENSG00000132424 40 0 0.00 80 9 10.11 - - - RBM3 0 genome.wustl.edu 37 X 48434060 48434060 + RNA SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 X 48434060 48434060 G A SNP RBM3 ENST00000485213 human ensembl 69_37n +1 known rna NULL NULL 0.995 - - - no_errors RBM3 HGNC ENSG00000102317 66 0 0.00 79 23 22.55 - - - SALL1 0 genome.wustl.edu 37 16 51173053 51173053 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 16 51173053 51173053 C T SNP SALL1 ENST00000251020 human ensembl 69_37n -1 known missense c.3080 p.R1027K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 35 0 0.00 11 10 47.62 - - - SEL1L3 0 genome.wustl.edu 37 4 25750062 25750062 + Silent SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 4 25750062 25750062 C T SNP SEL1L3 ENST00000399878 human ensembl 69_37n -1 known silent c.3384 p.P1128 0.001 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 73 0 0.00 31 40 56.34 - - - SEZ6 0 genome.wustl.edu 37 17 27296881 27296881 + Missense_Mutation SNP G G T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 17 27296881 27296881 G T SNP SEZ6 ENST00000317338 human ensembl 69_37n -1 known missense c.948 p.F316L 0.998 superfamily_CUB pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 101 0 0.00 15 61 80.26 - - - TEAD3 0 genome.wustl.edu 37 6 35442832 35442832 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 6 35442832 35442832 C T SNP TEAD3 ENST00000402886 human ensembl 69_37n -1 novel missense c.1117 p.V373I 1.000 pirsf_TEF pfam_TEA/ATTS,pirsf_TEF - no_errors TEAD3 HGNC ENSG00000007866 53 0 0.00 95 16 14.41 - - - TGM6 0 genome.wustl.edu 37 20 2413157 2413157 + Missense_Mutation SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 20 2413157 2413157 G A SNP TGM6 ENST00000381423 human ensembl 69_37n +1 known missense c.1855 p.G619R 1.000 NULL pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 42 0 0.00 12 11 47.83 - - - TMEM100 0 genome.wustl.edu 37 17 53798216 53798216 + Silent SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 17 53798216 53798216 G A SNP TMEM100 ENST00000424486 human ensembl 69_37n -1 known silent c.216 p.T72 0.181 NULL NULL - no_errors TMEM100 HGNC ENSG00000166292 54 0 0.00 6 45 88.24 - - - TMEM132C 0 genome.wustl.edu 37 12 129180413 129180413 + Missense_Mutation SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 12 129180413 129180413 G A SNP TMEM132C ENST00000435159 human ensembl 69_37n +1 known missense c.1694 p.R565Q 0.816 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 62 0 0.00 36 25 40.98 - - - TNXB 0 genome.wustl.edu 37 6 32020477 32020477 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 6 32020477 32020477 C T SNP TNXB ENST00000375247 human ensembl 69_37n -1 known missense c.9079 p.V3027M 0.725 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 57 0 0.00 80 20 20.00 - - - TP53 0 genome.wustl.edu 37 17 7578265 7578265 + Missense_Mutation SNP A A G TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 17 7578265 7578265 A G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.584 p.I195T 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 45 0 0.00 12 31 72.09 - - - TXNDC11 0 genome.wustl.edu 37 16 11782284 11782284 + Missense_Mutation SNP A A C TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 16 11782284 11782284 A C SNP TXNDC11 ENST00000356957 human ensembl 69_37n -1 known missense c.1999 p.F667V 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 29 0 0.00 42 8 16.00 - - - USP32P2 0 genome.wustl.edu 37 17 18415379 18415382 + RNA DEL TATT TATT - TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 TATT TATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 17 18415379 18415382 TATT - DEL USP32P2 ENST00000412260 human ensembl 69_37n -1 known rna NULL NULL 0.702:0.636:0.550:0.518 - - - no_errors USP32P2 HGNC ENSG00000233327 29 0 0.00 14 4 22.22 - - - WDFY4 0 genome.wustl.edu 37 10 49998825 49998825 + Missense_Mutation SNP G G A TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 10 49998825 49998825 G A SNP WDFY4 ENST00000325239 human ensembl 69_37n +1 known missense c.4120 p.G1374R 0.907 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 56 0 0.00 73 14 16.09 - - - ZNF541 0 genome.wustl.edu 37 19 48058876 48058876 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c16a9047-5cff-4096-902f-de7ceca1c349 495a1629-20ff-41e2-b82f-c7d17da58369 19 48058876 48058876 C T SNP ZNF541 ENST00000314121 human ensembl 69_37n -1 known missense c.238 p.G80R 0.972 NULL pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors ZNF541 HGNC ENSG00000118156 36 0 0.00 44 24 35.29 - - -