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 ACSBG1 0 genome.wustl.edu 37 15 78474920 78474920 + Missense_Mutation SNP T T C TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 15 78474920 78474920 T C SNP ACSBG1 ENST00000258873 human ensembl 69_37n -1 known missense c.782 p.E261G 0.997 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 57 0 0.00 40 26 39.39 - - - ACTN4 0 genome.wustl.edu 37 19 39220426 39220426 + RNA SNP G G A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 19 39220426 39220426 G A SNP ACTN4 ENST00000497637 human ensembl 69_37n +1 putative rna NULL NULL 0.086 - - - no_errors ACTN4 HGNC ENSG00000130402 41 0 0.00 21 15 41.67 - - - ARHGDIA 0 genome.wustl.edu 37 17 79827427 79827427 + Missense_Mutation SNP C C T TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 17 79827427 79827427 C T SNP ARHGDIA ENST00000269321 human ensembl 69_37n -1 known missense c.265 p.D89N 1.000 pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIA HGNC ENSG00000141522 22 0 0.00 8 8 50.00 - - - BRWD3 0 genome.wustl.edu 37 X 79947371 79947371 + Silent SNP G G A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 X 79947371 79947371 G A SNP BRWD3 ENST00000373275 human ensembl 69_37n -1 known silent c.3432 p.D1144 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 72 0 0.00 48 19 28.36 - - - C6orf136 0 genome.wustl.edu 37 6 30615302 30615302 + Silent SNP G G A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 6 30615302 30615302 G A SNP C6orf136 ENST00000293604 human ensembl 69_37n +1 known silent c.294 p.L98 0.000 NULL pfam_DUF2358 - no_errors C6orf136 HGNC ENSG00000204564 74 0 0.00 40 22 35.48 - - - CAMSAP3 0 genome.wustl.edu 37 19 7676700 7676700 + Missense_Mutation SNP G G A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 19 7676700 7676700 G A SNP CAMSAP3 ENST00000446248 human ensembl 69_37n +1 known missense c.1402 p.A468T 0.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 28 0 0.00 26 7 21.21 - - - CANT1 0 genome.wustl.edu 37 17 76989950 76989950 + Missense_Mutation SNP G G T TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 17 76989950 76989950 G T SNP CANT1 ENST00000302345 human ensembl 69_37n -1 known missense c.888 p.F296L 1.000 pfam_Apyrase,superfamily_Apyrase pfam_Apyrase,superfamily_Apyrase - no_errors CANT1 HGNC ENSG00000171302 30 0 0.00 10 14 58.33 - - - CEP19 0 genome.wustl.edu 37 3 196434521 196434523 + In_Frame_Del DEL CTT CTT - TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 3 196434521 196434523 CTT - DEL CEP19 ENST00000409690 human ensembl 69_37n -1 known in_frame_del c.405_403 p.K135in_frame_del 0.995:1.000:1.000 NULL NULL - no_errors CEP19 HGNC ENSG00000174007 74 0 0.00 56 9 13.64 - - - COL28A1 0 genome.wustl.edu 37 7 7561589 7561589 + Nonsense_Mutation SNP C C A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 7 7561589 7561589 C A SNP COL28A1 ENST00000399429 human ensembl 69_37n -1 known nonsense c.706 p.E236* 0.997 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 47 0 0.00 30 19 38.00 - - - CSMD2 0 genome.wustl.edu 37 1 34025030 34025030 + Silent SNP A A G TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 1 34025030 34025030 A G SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known silent c.8424 p.T2808 0.998 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 44 0 0.00 26 5 16.13 - - - DHX8 0 genome.wustl.edu 37 17 41570357 41570357 + Missense_Mutation SNP A A T TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 17 41570357 41570357 A T SNP DHX8 ENST00000262415 human ensembl 69_37n +1 known missense c.812 p.K271I 1.000 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 39 0 0.00 23 22 48.89 - - - GAPVD1 0 genome.wustl.edu 37 9 128061327 128061327 + Missense_Mutation SNP C C T TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 9 128061327 128061327 C T SNP GAPVD1 ENST00000394105 human ensembl 69_37n +1 known missense c.127 p.R43C 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 19 0 0.00 9 6 40.00 - - - GUSBP1 0 genome.wustl.edu 37 5 21459636 21459636 + RNA SNP C C T TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 5 21459636 21459636 C T SNP GUSBP1 ENST00000508973 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RP11-823P9.1 Clone_based_vega_gene ENSG00000183666 126 0 0.00 106 64 37.65 - - - KDM5C 0 genome.wustl.edu 37 X 53223508 53223509 + Frame_Shift_Del DEL CT CT - TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 X 53223508 53223509 CT - DEL KDM5C ENST00000375401 human ensembl 69_37n -1 known frame_shift_del c.3851_3850 p.R1284fs 1.000:1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 99 0 0.00 72 31 30.10 - - - KIAA2022 0 genome.wustl.edu 37 X 73961059 73961059 + Missense_Mutation SNP T T A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 X 73961059 73961059 T A SNP KIAA2022 ENST00000055682 human ensembl 69_37n -1 known missense c.3333 p.K1111N 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 84 0 0.00 49 26 34.67 - - - KRT42P 0 genome.wustl.edu 37 17 39784163 39784163 + RNA SNP C C T TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 17 39784163 39784163 C T SNP KRT42P ENST00000398469 human ensembl 69_37n -1 known rna NULL NULL 0.996 - - - no_errors KRT42P HGNC ENSG00000214514 92 0 0.00 60 39 39.39 - - - KRTAP20-2 0 genome.wustl.edu 37 21 32007597 32007597 + Silent SNP C C T TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 21 32007597 32007597 C T SNP KRTAP20-2 ENST00000330798 human ensembl 69_37n +1 known silent c.15 p.S5 0.035 pfam_KRTAP pfam_KRTAP - no_errors KRTAP20-2 HGNC ENSG00000184032 144 0 0.00 113 36 24.16 - - - LATS1 0 genome.wustl.edu 37 6 150039148 150039148 + Missense_Mutation SNP G G A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 6 150039148 150039148 G A SNP LATS1 ENST00000458696 human ensembl 69_37n -1 putative missense c.23 p.S8L 0.955 NULL superfamily_UBA-like - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region LATS1 HGNC ENSG00000131023 9 0 0.00 7 6 46.15 - - - LRRN2 0 genome.wustl.edu 37 1 204588367 204588368 + Frame_Shift_Del DEL CC CC - TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 1 204588367 204588368 CC - DEL LRRN2 ENST00000367175 human ensembl 69_37n -1 known frame_shift_del c.754_753 p.V252fs 0.996:0.013 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRN2 HGNC ENSG00000170382 42 0 0.00 70 15 17.65 - - - MAP3K1 0 genome.wustl.edu 37 5 56168489 56168490 + Frame_Shift_Del DEL AT AT - TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 5 56168489 56168490 AT - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.1445_1446 p.N482fs 1.000:0.994 pfscan_Znf_RING pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 57 0 0.00 33 18 35.29 - - - MAP3K1 0 genome.wustl.edu 37 5 56181807 56181807 + Nonsense_Mutation SNP C C G TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 5 56181807 56181807 C G SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel nonsense c.4031 p.S1344* 0.996 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,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 58 0 0.00 46 22 32.35 - - - MLL5 0 genome.wustl.edu 37 7 104654714 104654714 + RNA SNP C C T TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 7 104654714 104654714 C T SNP MLL5 ENST00000480368 human ensembl 69_37n +1 known rna NULL NULL 0.997 - - - no_errors MLL5 HGNC ENSG00000005483 109 0 0.00 58 37 38.95 - - - MPHOSPH8 0 genome.wustl.edu 37 13 20216401 20216401 + Missense_Mutation SNP G G T TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 13 20216401 20216401 G T SNP MPHOSPH8 ENST00000414242 human ensembl 69_37n +1 known missense c.360 p.K120N 0.719 NULL pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 39 0 0.00 13 3 18.75 - - - NADKD1 0 genome.wustl.edu 37 5 36195081 36195081 + RNA DEL T T - TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 5 36195081 36195081 T - DEL NADKD1 ENST00000511613 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors NADKD1 HGNC ENSG00000152620 17 0 0.00 8 5 38.46 - - - NUP85 0 genome.wustl.edu 37 17 73201834 73201834 + RNA SNP C C T TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 17 73201834 73201834 C T SNP NUP85 ENST00000449421 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors NUP85 HGNC ENSG00000125450 71 0 0.00 63 49 43.75 - - - OTP 0 genome.wustl.edu 37 5 76933023 76933023 + Missense_Mutation SNP G G A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 5 76933023 76933023 G A SNP OTP ENST00000306422 human ensembl 69_37n -1 known missense c.70 p.R24W 1.000 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,prints_HTH_motif,pfscan_OAR_dom,pfscan_Homeodomain - no_errors OTP HGNC ENSG00000171540 69 0 0.00 45 25 35.71 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 50 0 0.00 25 34 57.63 - - - PIK3CA 0 genome.wustl.edu 37 3 178938934 178938934 + Missense_Mutation SNP G G A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 3 178938934 178938934 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.2176 p.E726K 1.000 superfamily_Kinase-like_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 85 0 0.00 49 45 47.37 - - - PRSS53 0 genome.wustl.edu 37 16 31098175 31098175 + Missense_Mutation SNP G G A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 16 31098175 31098175 G A SNP PRSS53 ENST00000280606 human ensembl 69_37n -1 known missense c.287 p.S96F 1.000 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,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,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS53 HGNC ENSG00000151006 56 0 0.00 46 10 17.86 - - - PTPRM 0 genome.wustl.edu 37 18 8394540 8394540 + Missense_Mutation SNP G G C TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 18 8394540 8394540 G C SNP PTPRM ENST00000400060 human ensembl 69_37n +1 known missense c.4278 p.Q1426H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 37 0 0.00 25 17 40.48 - - - RGPD1 0 genome.wustl.edu 37 2 87205014 87205014 + Missense_Mutation SNP C C G TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 2 87205014 87205014 C G SNP RGPD1 ENST00000398193 human ensembl 69_37n +1 known missense c.2423 p.S808C 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD1 HGNC ENSG00000187627 19 0 0.00 7 5 41.67 - - - SLC22A9 0 genome.wustl.edu 37 11 63137555 63137555 + Silent SNP C C T TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 11 63137555 63137555 C T SNP SLC22A9 ENST00000279178 human ensembl 69_37n +1 known silent c.27 p.H9 0.001 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC ENSG00000149742 85 0 0.00 42 9 17.65 - - - SMC1A 0 genome.wustl.edu 37 X 53439044 53439046 + In_Frame_Del DEL CTT CTT - TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 X 53439044 53439046 CTT - DEL SMC1A ENST00000322213 human ensembl 69_37n -1 known in_frame_del c.1014_1012 p.K338in_frame_del 0.999:1.000:0.999 pfam_RecF/RecN/SMC,prints_Tropomyosin pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 85 0 0.00 64 24 27.27 - - - SMG1 0 genome.wustl.edu 37 16 18879677 18879677 + Splice_Site SNP C C A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 16 18879677 18879677 C A SNP SMG1 ENST00000389467 human ensembl 69_37n -1 known splice_site c.3031-1 e22-1 1.000 - - - no_errors SMG1 HGNC ENSG00000157106 93 0 0.00 52 77 59.69 - - - SOLH 0 genome.wustl.edu 37 16 597356 597356 + Missense_Mutation SNP C C T TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 16 597356 597356 C T SNP SOLH ENST00000219611 human ensembl 69_37n +1 known missense c.518 p.S173L 0.999 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors SOLH HGNC ENSG00000103326 8 0 0.00 5 5 50.00 - - - TMEM161B 0 genome.wustl.edu 37 5 87492051 87492051 + Missense_Mutation SNP G G T TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 5 87492051 87492051 G T SNP TMEM161B ENST00000296595 human ensembl 69_37n -1 known missense c.1441 p.H481N 1.000 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161B HGNC ENSG00000164180 36 0 0.00 36 4 10.00 - - - TRAP1 0 genome.wustl.edu 37 16 3714413 3714413 + Silent SNP G G A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 16 3714413 3714413 G A SNP TRAP1 ENST00000246957 human ensembl 69_37n -1 known silent c.1431 p.S477 0.120 pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90 pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 80 0 0.00 44 58 56.31 - - - TRIM37 0 genome.wustl.edu 37 17 57165759 57165759 + Missense_Mutation SNP G G C TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 17 57165759 57165759 G C SNP TRIM37 ENST00000580122 human ensembl 69_37n -1 known missense c.172 p.P58A 0.623 NULL pfscan_Znf_RING - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TRIM37 HGNC ENSG00000108395 24 0 0.00 22 15 40.54 - - - URB2 0 genome.wustl.edu 37 1 229790001 229790001 + Missense_Mutation SNP A A G TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 1 229790001 229790001 A G SNP URB2 ENST00000258243 human ensembl 69_37n +1 known missense c.4243 p.I1415V 0.000 pfam_Urb2/Npa2_C pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 98 0 0.00 110 20 15.38 - - - ZFP36L2 0 genome.wustl.edu 37 2 43452870 43452870 + Missense_Mutation SNP G G A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 2 43452870 43452870 G A SNP ZFP36L2 ENST00000282388 human ensembl 69_37n -1 known missense c.73 p.L25F 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 34 0 0.00 19 6 24.00 - - - ZSWIM4 0 genome.wustl.edu 37 19 13941397 13941397 + Missense_Mutation SNP G G A TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 72f91ad5-8d24-4a74-960c-646a15dd8d50 349f79fa-f1fa-4669-a522-7d33a00f78d6 19 13941397 13941397 G A SNP ZSWIM4 ENST00000254323 human ensembl 69_37n +1 known missense c.2503 p.A835T 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 85 0 0.00 97 11 10.19 - - -