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 BARHL1 0 genome.wustl.edu 37 9 135458232 135458232 + Silent SNP C C T TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 9 135458232 135458232 C T SNP BARHL1 ENST00000263610 human ensembl 69_37n +1 known silent c.48 p.R16 0.879 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors BARHL1 HGNC ENSG00000125492 52 0 0.00 16 6 27.27 - - - CD300E 0 genome.wustl.edu 37 17 72619828 72619828 + Missense_Mutation SNP G G A TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 17 72619828 72619828 G A SNP CD300E ENST00000426295 human ensembl 69_37n -1 known missense c.56 p.P19L 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300E HGNC ENSG00000186407 196 0 0.00 201 77 27.70 - - - CDC42BPA 0 genome.wustl.edu 37 1 227288919 227288919 + Missense_Mutation SNP G G A TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 1 227288919 227288919 G A SNP CDC42BPA ENST00000334218 human ensembl 69_37n -1 known missense c.2023 p.P675S 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,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,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC ENSG00000143776 207 0 0.00 197 163 45.28 - - - COL12A1 0 genome.wustl.edu 37 6 75884984 75884984 + Missense_Mutation SNP G G A TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 6 75884984 75884984 G A SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known missense c.2480 p.T827M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 212 0 0.00 157 66 29.60 - - - CUL4B 0 genome.wustl.edu 37 X 119678367 119678367 + Missense_Mutation SNP C C T TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 X 119678367 119678367 C T SNP CUL4B ENST00000404115 human ensembl 69_37n -1 known missense c.1106 p.R369Q 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 229 0 0.00 296 54 15.43 - - - DNPEP 0 genome.wustl.edu 37 2 220249154 220249154 + Frame_Shift_Del DEL A A - TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 2 220249154 220249154 A - DEL DNPEP ENST00000273075 human ensembl 69_37n -1 known frame_shift_del c.786 p.A263fs 0.803 pfam_Peptidase_M18 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 - no_errors DNPEP HGNC ENSG00000123992 35 0 0.00 11 2 15.38 - - - FSIP2 0 genome.wustl.edu 37 2 186673142 186673142 + Frame_Shift_Del DEL A A - TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 2 186673142 186673142 A - DEL FSIP2 ENST00000343098 human ensembl 69_37n +1 known frame_shift_del c.19376 p.N6461fs 0.001 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 150 0 0.00 112 41 26.62 - - - GJB3 0 genome.wustl.edu 37 1 35251060 35251060 + Missense_Mutation SNP G G A TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 1 35251060 35251060 G A SNP GJB3 ENST00000373362 human ensembl 69_37n +1 known missense c.697 p.A233T 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31 - no_errors GJB3 HGNC ENSG00000188910 31 0 0.00 13 9 32.14 - - - HEY1 0 genome.wustl.edu 37 8 80677554 80677554 + Missense_Mutation SNP A A T TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 8 80677554 80677554 A T SNP HEY1 ENST00000337919 human ensembl 69_37n -1 known missense c.796 p.S266T 1.000 NULL pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd - no_errors HEY1 HGNC ENSG00000164683 12 0 0.00 2 10 83.33 - - - HOXA5 0 genome.wustl.edu 37 7 27182916 27182916 + Missense_Mutation SNP G G A TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 7 27182916 27182916 G A SNP HOXA5 ENST00000222726 human ensembl 69_37n -1 known missense c.311 p.S104F 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA5 HGNC ENSG00000106004 15 0 0.00 7 4 36.36 - - - HYAL2 0 genome.wustl.edu 37 3 50355675 50355675 + Frame_Shift_Del DEL T T - TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 3 50355675 50355675 T - DEL HYAL2 ENST00000357750 human ensembl 69_37n -1 known frame_shift_del c.1307 p.E436fs 0.903 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC ENSG00000068001 29 0 0.00 6 3 33.33 - - - HYAL2 0 genome.wustl.edu 37 3 50355680 50355681 + Frame_Shift_Ins INS - - TT TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 3 50355680 50355681 - TT INS HYAL2 ENST00000357750 human ensembl 69_37n -1 known frame_shift_ins c.1302_1301 p.S434fs 0.905:0.978 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC ENSG00000068001 28 0 0.00 6 3 33.33 - - - IGHV4-61 0 genome.wustl.edu 37 14 107095423 107095423 + Silent SNP G G A TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 14 107095423 107095423 G A SNP IGHV4-61 ENST00000390630 human ensembl 69_37n -1 known silent c.57 p.S19 0.987 pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV4-61 HGNC ENSG00000211970 87 0 0.00 46 8 14.81 - - - IRF4 0 genome.wustl.edu 37 6 397138 397138 + Missense_Mutation SNP G G A TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 6 397138 397138 G A SNP IRF4 ENST00000380956 human ensembl 69_37n +1 known missense c.523 p.D175N 1.000 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 124 0 0.00 45 29 39.19 - - - KLHL15 0 genome.wustl.edu 37 X 24024161 24024162 + Frame_Shift_Ins INS - - T TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 X 24024161 24024162 - T INS KLHL15 ENST00000328046 human ensembl 69_37n -1 known frame_shift_ins c.650_649 p.T217fs 1.000:1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 919 0 0.00 832 304 26.76 - - - KRT2 0 genome.wustl.edu 37 12 53042056 53042056 + Silent SNP G G A TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 12 53042056 53042056 G A SNP KRT2 ENST00000309680 human ensembl 69_37n -1 known silent c.1023 p.R341 0.001 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 340 0 0.00 259 110 29.81 - - - MAP3K1 0 genome.wustl.edu 37 5 56178024 56178027 + Frame_Shift_Del DEL AGAT AGAT - TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 AGAT AGAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 5 56178024 56178027 AGAT - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.2997_3000 p.D1000fs 1.000:1.000:1.000:0.958 NULL 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 404 0 0.00 185 72 27.48 - - - MDM1 0 genome.wustl.edu 37 12 68719294 68719294 + Missense_Mutation SNP C C A TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 12 68719294 68719294 C A SNP MDM1 ENST00000303145 human ensembl 69_37n -1 known missense c.560 p.R187I 1.000 NULL NULL - no_errors MDM1 HGNC ENSG00000111554 544 1 0.18 365 167 31.39 - - - NCDN 0 genome.wustl.edu 37 1 36029024 36029024 + Missense_Mutation SNP T T G TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 1 36029024 36029024 T G SNP NCDN ENST00000356090 human ensembl 69_37n +1 known missense c.1607 p.I536S 1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 54 0 0.00 24 11 31.43 - - - OASL 0 genome.wustl.edu 37 12 121458644 121458645 + Frame_Shift_Del DEL GT GT - TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 12 121458644 121458645 GT - DEL OASL ENST00000257570 human ensembl 69_37n -1 known frame_shift_del c.1265_1264 p.T422fs 0.000:0.000 smart_Ubiquitin pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup - no_errors OASL HGNC ENSG00000135114 234 0 0.00 278 194 41.10 - - - OCRL 0 genome.wustl.edu 37 X 128692912 128692912 + Missense_Mutation SNP G G A TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 X 128692912 128692912 G A SNP OCRL ENST00000371113 human ensembl 69_37n +1 known missense c.656 p.R219Q 1.000 superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 593 0 0.00 437 174 28.48 - - - OGDHL 0 genome.wustl.edu 37 10 50946283 50946283 + Missense_Mutation SNP G G T TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 10 50946283 50946283 G T SNP OGDHL ENST00000374103 human ensembl 69_37n -1 known missense c.2345 p.P782H 0.994 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 84 0 0.00 40 18 31.03 - - - OR13G1 0 genome.wustl.edu 37 1 247835571 247835571 + Missense_Mutation SNP C C T TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 1 247835571 247835571 C T SNP OR13G1 ENST00000359688 human ensembl 69_37n -1 known missense c.773 p.R258H 0.823 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR13G1 HGNC ENSG00000197437 275 0 0.00 126 57 31.15 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 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 267 1 0.37 230 323 58.41 - - - PNCK 0 genome.wustl.edu 37 X 152936626 152936627 + Frame_Shift_Ins INS - - G TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 X 152936626 152936627 - G INS PNCK ENST00000447676 human ensembl 69_37n -1 known frame_shift_ins c.883_882 p.F294fs 1.000:0.876 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 PNCK HGNC ENSG00000130822 58 0 0.00 36 4 10.00 - - - SEPT12 0 genome.wustl.edu 37 16 4829718 4829718 + Missense_Mutation SNP G G A TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 16 4829718 4829718 G A SNP SEPT12 ENST00000268231 human ensembl 69_37n -1 known missense c.796 p.R266W 1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin - no_errors SEPT12 HGNC ENSG00000140623 75 0 0.00 119 25 17.36 - - - SIPA1L1 0 genome.wustl.edu 37 14 72055691 72055691 + Missense_Mutation SNP G G T TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 14 72055691 72055691 G T SNP SIPA1L1 ENST00000555818 human ensembl 69_37n +1 known missense c.1102 p.V368L 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 538 0 0.00 234 97 29.31 - - - SLC12A9 0 genome.wustl.edu 37 7 100457800 100457800 + Silent SNP G G C TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 7 100457800 100457800 G C SNP SLC12A9 ENST00000354161 human ensembl 69_37n +1 known silent c.1164 p.V388 0.882 pfam_AA-permease_dom pfam_AA-permease_dom - no_errors SLC12A9 HGNC ENSG00000146828 107 0 0.00 30 36 54.55 - - - SLFN12 0 genome.wustl.edu 37 17 33749142 33749142 + Silent SNP G G A TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 17 33749142 33749142 G A SNP SLFN12 ENST00000304905 human ensembl 69_37n -1 known silent c.906 p.V302 0.091 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 309 0 0.00 379 187 32.92 - - - SYDE2 0 genome.wustl.edu 37 1 85656406 85656406 + Missense_Mutation SNP T T C TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 1 85656406 85656406 T C SNP SYDE2 ENST00000341460 human ensembl 69_37n -1 known missense c.775 p.M259V 0.065 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 353 0 0.00 354 168 32.12 - - - TCN1 0 genome.wustl.edu 37 11 59629105 59629105 + Missense_Mutation SNP C C T TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 11 59629105 59629105 C T SNP TCN1 ENST00000257264 human ensembl 69_37n -1 known missense c.451 p.V151I 0.002 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors TCN1 HGNC ENSG00000134827 344 0 0.00 211 90 29.90 - - - TENC1 0 genome.wustl.edu 37 12 53457540 53457540 + Silent SNP C C T TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 12 53457540 53457540 C T SNP TENC1 ENST00000314276 human ensembl 69_37n +1 known silent c.4134 p.F1378 0.948 pfam_PTB,smart_PTyr_interaction_dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 76 0 0.00 59 11 15.71 - - - TOR1AIP2 0 genome.wustl.edu 37 1 179815877 179815877 + Missense_Mutation SNP T T G TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 1 179815877 179815877 T G SNP TOR1AIP2 ENST00000367612 human ensembl 69_37n -1 known missense c.742 p.K248Q 0.389 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP2 HGNC ENSG00000169905 158 1 0.62 228 53 18.86 - - - TTC37 0 genome.wustl.edu 37 5 94858950 94858950 + Silent SNP T T G TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 5 94858950 94858950 T G SNP TTC37 ENST00000358746 human ensembl 69_37n -1 known silent c.1713 p.G571 0.085 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 589 2 0.34 427 171 28.60 - - - WWC1 0 genome.wustl.edu 37 5 167881097 167881097 + Missense_Mutation SNP G G A TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 5 167881097 167881097 G A SNP WWC1 ENST00000265293 human ensembl 69_37n +1 known missense c.2650 p.A884T 0.774 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC1 HGNC ENSG00000113645 234 0 0.00 207 221 51.64 - - - ZNF618 0 genome.wustl.edu 37 9 116764297 116764297 + Missense_Mutation SNP G G A TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1d0c87ef-6840-4051-85d5-7fc2c544578c 0a43cf49-03cc-4aa0-bde2-1107ce131db4 9 116764297 116764297 G A SNP ZNF618 ENST00000374126 human ensembl 69_37n +1 known missense c.455 p.C152Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 86 0 0.00 43 14 24.56 - - -