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 ABCA10 0 genome.wustl.edu 37 17 67212357 67212357 + Splice_Site SNP C C A TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 17 67212357 67212357 C A SNP ABCA10 ENST00000269081 human ensembl 69_37n -1 known splice_site c.672+1 e5+1 1.000 - - - no_errors ABCA10 HGNC ENSG00000154263 31 0 0.00 38 8 17.39 - - - ARID1A 0 genome.wustl.edu 37 1 27106363 27106363 + Missense_Mutation SNP T T C TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 1 27106363 27106363 T C SNP ARID1A ENST00000324856 human ensembl 69_37n +1 known missense c.5974 p.S1992P 1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 60 0 0.00 30 33 51.56 - - - BACH2 0 genome.wustl.edu 37 6 90660252 90660252 + Missense_Mutation SNP A A T TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 6 90660252 90660252 A T SNP BACH2 ENST00000257749 human ensembl 69_37n -1 known missense c.1573 p.S525T 1.000 NULL pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 35 0 0.00 22 15 40.54 - - - BTBD16 0 genome.wustl.edu 37 10 124097568 124097569 + Frame_Shift_Ins INS - - T TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 10 124097568 124097569 - T INS BTBD16 ENST00000368994 human ensembl 69_37n +1 known frame_shift_ins c.1492_1493 p.S499fs 0.980:0.847 NULL superfamily_BTB/POZ_fold - no_errors BTBD16 HGNC ENSG00000138152 138 0 0.00 71 27 27.55 - - - CCBL2 0 genome.wustl.edu 37 1 89434456 89434456 + Missense_Mutation SNP T T C TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 1 89434456 89434456 T C SNP CCBL2 ENST00000260508 human ensembl 69_37n -1 known missense c.200 p.N67S 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors CCBL2 HGNC ENSG00000137944 40 0 0.00 25 12 32.43 - - - CEACAM20 0 genome.wustl.edu 37 19 45024705 45024705 + RNA SNP G G A TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 19 45024705 45024705 G A SNP CEACAM20 ENST00000316962 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CEACAM20 HGNC ENSG00000176395 40 0 0.00 36 11 23.40 - - - CENPK 0 genome.wustl.edu 37 5 64824380 64824380 + Missense_Mutation SNP T T A TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 5 64824380 64824380 T A SNP CENPK ENST00000242872 human ensembl 69_37n -1 known missense c.496 p.M166L 0.126 pfam_Centromere_CenpK pfam_Centromere_CenpK,superfamily_Prefoldin - no_errors CENPK HGNC ENSG00000123219 37 0 0.00 31 15 32.61 - - - COL4A5 0 genome.wustl.edu 37 X 107834827 107834828 + Frame_Shift_Ins INS - - A TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 X 107834827 107834828 - A INS COL4A5 ENST00000328300 human ensembl 69_37n +1 known frame_shift_ins c.1376_1377 p.G460fs 0.981:0.853 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 47 0 0.00 26 19 42.22 - - - DIAPH1 0 genome.wustl.edu 37 5 140960365 140960365 + Missense_Mutation SNP A A C TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 5 140960365 140960365 A C SNP DIAPH1 ENST00000253811 human ensembl 69_37n -1 known missense c.770 p.I257S 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH1 HGNC ENSG00000131504 35 0 0.00 14 12 46.15 - - - DNA2 0 genome.wustl.edu 37 10 70182350 70182350 + Missense_Mutation SNP A A C TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 10 70182350 70182350 A C SNP DNA2 ENST00000399180 human ensembl 69_37n -1 known missense c.2672 p.M891R 1.000 NULL pfam_DNA_replication_fac_Dna2 - no_errors DNA2 HGNC ENSG00000138346 63 0 0.00 45 26 36.62 - - - DNAH9 0 genome.wustl.edu 37 17 11572851 11572851 + Silent SNP C C T TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 17 11572851 11572851 C T SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known silent c.3093 p.Y1031 0.854 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 52 0 0.00 8 15 65.22 - - - DYM 0 genome.wustl.edu 37 18 46808427 46808427 + Silent SNP C C T TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 18 46808427 46808427 C T SNP DYM ENST00000269445 human ensembl 69_37n -1 known silent c.1065 p.L355 0.996 pfam_Dymeclin,superfamily_ARM-type_fold pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC ENSG00000141627 60 0 0.00 42 28 40.00 - - - EBF3 0 genome.wustl.edu 37 10 131640515 131640515 + Missense_Mutation SNP A A T TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 10 131640515 131640515 A T SNP EBF3 ENST00000355311 human ensembl 69_37n -1 known missense c.1237 p.Y413N 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF3 HGNC ENSG00000108001 26 0 0.00 17 7 29.17 - - - EML6 0 genome.wustl.edu 37 2 55144045 55144045 + Silent SNP C C T TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 2 55144045 55144045 C T SNP EML6 ENST00000356458 human ensembl 69_37n +1 novel silent c.3648 p.F1216 0.996 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 53 0 0.00 33 16 32.65 - - - FRK 0 genome.wustl.edu 37 6 116381284 116381284 + Missense_Mutation SNP C C G TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 6 116381284 116381284 C G SNP FRK ENST00000368626 human ensembl 69_37n -1 known missense c.191 p.R64P 0.001 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors FRK HGNC ENSG00000111816 39 0 0.00 25 18 41.86 - - - GOLGA6L6 0 genome.wustl.edu 37 15 20739675 20739675 + Missense_Mutation SNP C C T TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 15 20739675 20739675 C T SNP GOLGA6L6 ENST00000427390 human ensembl 69_37n -1 known missense c.2075 p.R692Q 0.716 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC ENSG00000215405 41 0 0.00 25 4 13.79 - - - GOLGA6L6 0 genome.wustl.edu 37 15 20740459 20740461 + In_Frame_Del DEL TCG TCG - TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 TCG TCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 15 20740459 20740461 TCG - DEL GOLGA6L6 ENST00000427390 human ensembl 69_37n -1 known in_frame_del c.1291_1289 p.AK430in_frame_delE 0.966:0.963:0.960 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC ENSG00000215405 9 0 0.00 9 4 30.77 - - - GPR110 0 genome.wustl.edu 37 6 46975029 46975029 + Silent SNP T T C TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 6 46975029 46975029 T C SNP GPR110 ENST00000371253 human ensembl 69_37n -1 known silent c.2493 p.G831 0.002 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 38 0 0.00 23 11 31.43 - - - GPR111 0 genome.wustl.edu 37 6 47646834 47646834 + Missense_Mutation SNP C C G TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 6 47646834 47646834 C G SNP GPR111 ENST00000296862 human ensembl 69_37n +1 known missense c.435 p.D145E 0.740 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR111 HGNC ENSG00000164393 67 0 0.00 45 24 34.78 - - - GREB1L 0 genome.wustl.edu 37 18 19031101 19031101 + Missense_Mutation SNP C C T TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 18 19031101 19031101 C T SNP GREB1L ENST00000424526 human ensembl 69_37n +1 known missense c.1838 p.T613I 1.000 NULL NULL - no_errors GREB1L HGNC ENSG00000141449 39 0 0.00 22 7 24.14 - - - GRIN3A 0 genome.wustl.edu 37 9 104433299 104433299 + Silent SNP G G A TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 9 104433299 104433299 G A SNP GRIN3A ENST00000361820 human ensembl 69_37n -1 known silent c.1395 p.I465 1.000 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 41 0 0.00 39 16 29.09 - - - HERC6 0 genome.wustl.edu 37 4 89363548 89363548 + Missense_Mutation SNP A A G TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 4 89363548 89363548 A G SNP HERC6 ENST00000264346 human ensembl 69_37n +1 known missense c.3005 p.E1002G 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 38 0 0.00 29 21 42.00 - - - HIVEP1 0 genome.wustl.edu 37 6 12131113 12131113 + Missense_Mutation SNP G G A TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 6 12131113 12131113 G A SNP HIVEP1 ENST00000379388 human ensembl 69_37n +1 known missense c.6323 p.R2108Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 83 0 0.00 74 19 20.43 - - - HOOK3 0 genome.wustl.edu 37 8 42798513 42798513 + Missense_Mutation SNP C C A TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 8 42798513 42798513 C A SNP HOOK3 ENST00000307602 human ensembl 69_37n +1 known missense c.325 p.H109N 1.000 pfam_HOOK pfam_HOOK,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 69 0 0.00 92 24 20.69 - - - HSPA8 0 genome.wustl.edu 37 11 122930239 122930241 + In_Frame_Del DEL GAA GAA - TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 11 122930239 122930241 GAA - DEL HSPA8 ENST00000534624 human ensembl 69_37n -1 known in_frame_del c.1062_1060 p.F354in_frame_del 1.000:1.000:1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 29 0 0.00 12 10 45.45 - - - ITPR1 0 genome.wustl.edu 37 3 4730264 4730264 + Missense_Mutation SNP C C A TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 3 4730264 4730264 C A SNP ITPR1 ENST00000302640 human ensembl 69_37n +1 known missense c.3743 p.A1248D 0.992 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 44 0 0.00 37 29 43.94 - - - LRRTM3 0 genome.wustl.edu 37 10 68686978 68686978 + Missense_Mutation SNP G G A TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 10 68686978 68686978 G A SNP LRRTM3 ENST00000361320 human ensembl 69_37n +1 known missense c.304 p.E102K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 28 0 0.00 24 8 25.00 - - - MAP2K4 0 genome.wustl.edu 37 17 12032459 12032459 + Nonsense_Mutation SNP G G T TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 17 12032459 12032459 G T SNP MAP2K4 ENST00000415385 human ensembl 69_37n +1 known nonsense c.928 p.E310* 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K4 HGNC ENSG00000065559 38 0 0.00 9 10 52.63 - - - MIER1 0 genome.wustl.edu 37 1 67424667 67424668 + Splice_Site INS - - T TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 1 67424667 67424668 - T INS MIER1 ENST00000401041 human ensembl 69_37n +1 known splice_site_ins c.634+1_634+1 e6+1 1.000:1.000 - - - no_errors MIER1 HGNC ENSG00000198160 56 0 0.00 36 13 26.53 - - - MORN1 0 genome.wustl.edu 37 1 2304001 2304001 + Missense_Mutation SNP G G C TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 1 2304001 2304001 G C SNP MORN1 ENST00000378531 human ensembl 69_37n -1 known missense c.664 p.P222A 0.839 NULL pfam_MORN,smart_MORN - no_errors MORN1 HGNC ENSG00000116151 30 0 0.00 20 8 28.57 - - - MUC20 0 genome.wustl.edu 37 3 195452668 195452668 + Silent SNP C C G TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 3 195452668 195452668 C G SNP MUC20 ENST00000447234 human ensembl 69_37n +1 known silent c.1194 p.P398 0.004 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 28 0 0.00 20 6 23.08 - - - NOS2 0 genome.wustl.edu 37 17 26116644 26116644 + Missense_Mutation SNP C C T TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 17 26116644 26116644 C T SNP NOS2 ENST00000313735 human ensembl 69_37n -1 known missense c.181 p.V61M 0.000 pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 44 0 0.00 52 40 43.48 - - - OBSCN 0 genome.wustl.edu 37 1 228480325 228480325 + Missense_Mutation SNP T T C TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 1 228480325 228480325 T C SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known missense c.10705 p.W3569R 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 52 0 0.00 53 12 18.46 - - - PGAP1 0 genome.wustl.edu 37 2 197707454 197707454 + Missense_Mutation SNP A A G TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 2 197707454 197707454 A G SNP PGAP1 ENST00000354764 human ensembl 69_37n -1 known missense c.2621 p.I874T 0.993 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 60 0 0.00 18 21 53.85 - - - PREX2 0 genome.wustl.edu 37 8 68965476 68965476 + Missense_Mutation SNP G G A TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 8 68965476 68965476 G A SNP PREX2 ENST00000288368 human ensembl 69_37n +1 known missense c.1088 p.R363Q 1.000 smart_Pleckstrin_homology pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 44 0 0.00 40 10 19.61 - - - SDK1 0 genome.wustl.edu 37 7 4249712 4249712 + Silent SNP C C T TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 7 4249712 4249712 C T SNP SDK1 ENST00000404826 human ensembl 69_37n +1 known silent c.5457 p.N1819 0.868 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 25 0 0.00 13 10 43.48 - - - SLC16A14 0 genome.wustl.edu 37 2 230910775 230910775 + Missense_Mutation SNP G G A TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 2 230910775 230910775 G A SNP SLC16A14 ENST00000295190 human ensembl 69_37n -1 known missense c.1067 p.T356M 0.995 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 29 0 0.00 22 13 37.14 - - - SPPL2C 0 genome.wustl.edu 37 17 43924233 43924233 + Missense_Mutation SNP C C T TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 17 43924233 43924233 C T SNP SPPL2C ENST00000329196 human ensembl 69_37n +1 known missense c.1961 p.A654V 0.967 NULL pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22 - no_errors SPPL2C HGNC ENSG00000185294 16 0 0.00 16 9 36.00 - - - SPTB 0 genome.wustl.edu 37 14 65220359 65220359 + Silent SNP G G A TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 14 65220359 65220359 G A SNP SPTB ENST00000389722 human ensembl 69_37n -1 known silent c.6498 p.P2166 0.000 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 16 0 0.00 13 8 38.10 - - - SYNE1 0 genome.wustl.edu 37 6 152861113 152861113 + Silent SNP G G A TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 6 152861113 152861113 G A SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known silent c.111 p.I37 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 125 0 0.00 76 46 37.70 - - - THPO 0 genome.wustl.edu 37 3 184091243 184091243 + Frame_Shift_Del DEL C C - TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 3 184091243 184091243 C - DEL THPO ENST00000204615 human ensembl 69_37n -1 known frame_shift_del c.356 p.R119fs 1.000 pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin - no_errors THPO HGNC ENSG00000090534 33 0 0.00 24 19 41.30 - - - UMPS 0 genome.wustl.edu 37 3 124457125 124457125 + Missense_Mutation SNP C C A TCGA-E2-A1IG-01A-11D-A142-09 TCGA-E2-A1IG-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84da47a3-49e1-4f94-bea9-dd20b6627adb 9859da9f-72c1-4f68-a054-4d103170d785 3 124457125 124457125 C A SNP UMPS ENST00000479719 human ensembl 69_37n +1 known missense c.1021 p.P341T 0.008 NULL pfam_OMPdeCOase_dom,pfam_PRibTrfase,superfamily_RibuloseP-bd_barrel,tigrfam_Or_phspho_trans_clade-1 - no_errors UMPS HGNC ENSG00000114491 19 0 0.00 9 8 47.06 - - -