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 BGN 0 genome.wustl.edu 37 X 152771478 152771478 + Missense_Mutation SNP G G A TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f X 152771478 152771478 G A SNP BGN ENST00000331595 human ensembl 69_37n +1 known missense c.509 p.R170H 0.857 smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors BGN HGNC ENSG00000182492 93 0 0.00 46 27 36.99 - - - BRSK2 0 genome.wustl.edu 37 11 1471018 1471018 + Silent SNP C C T TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 11 1471018 1471018 C T SNP BRSK2 ENST00000382179 human ensembl 69_37n +1 known silent c.1377 p.I459 1.000 superfamily_Kinase-like_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 BRSK2 HGNC ENSG00000174672 78 0 0.00 11 21 65.62 - - - C6orf118 0 genome.wustl.edu 37 6 165706931 165706931 + Missense_Mutation SNP G G T TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 6 165706931 165706931 G T SNP C6orf118 ENST00000230301 human ensembl 69_37n -1 known missense c.1091 p.A364E 0.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 409 1 0.24 206 114 35.62 - - - CASP6 0 genome.wustl.edu 37 4 110610590 110610590 + Nonsense_Mutation SNP G G A TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 4 110610590 110610590 G A SNP CASP6 ENST00000265164 human ensembl 69_37n -1 known nonsense c.778 p.R260* 0.997 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP6 HGNC ENSG00000138794 195 0 0.00 115 70 37.84 - - - CDKL1 0 genome.wustl.edu 37 14 50862547 50862547 + Missense_Mutation SNP A A T TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 14 50862547 50862547 A T SNP CDKL1 ENST00000395834 human ensembl 69_37n -1 known missense c.43 p.S15T 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 CDKL1 HGNC ENSG00000100490 232 0 0.00 161 111 40.81 - - - CSAG1 0 genome.wustl.edu 37 X 151908833 151908833 + Missense_Mutation SNP G G C TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f X 151908833 151908833 G C SNP CSAG1 ENST00000370287 human ensembl 69_37n +1 known missense c.72 p.W24C 0.000 NULL NULL - no_errors CSAG1 HGNC ENSG00000198930 756 0 0.00 412 259 38.60 - - - CSMD3 0 genome.wustl.edu 37 8 113237127 113237127 + Missense_Mutation SNP G G A TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 8 113237127 113237127 G A SNP CSMD3 ENST00000297405 human ensembl 69_37n -1 known missense c.10997 p.S3666L 1.000 NULL 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 CSMD3 HGNC ENSG00000164796 1062 0 0.00 1579 285 15.27 - - - GOLGA8G 0 genome.wustl.edu 37 15 28771127 28771127 + Missense_Mutation SNP C C G TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 15 28771127 28771127 C G SNP GOLGA8G ENST00000416855 human ensembl 69_37n -1 known missense c.1177 p.E393Q 1.000 NULL NULL - no_errors GOLGA8G HGNC ENSG00000183629 177 0 0.00 127 36 22.09 - - - GRAMD2 0 genome.wustl.edu 37 15 72456002 72456002 + Missense_Mutation SNP C C T TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 15 72456002 72456002 C T SNP GRAMD2 ENST00000309731 human ensembl 69_37n -1 known missense c.697 p.V233M 0.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC ENSG00000175318 226 0 0.00 119 89 42.79 - - - HCAR2 0 genome.wustl.edu 37 12 123187710 123187710 + Missense_Mutation SNP C C G TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 12 123187710 123187710 C G SNP HCAR2 ENST00000328880 human ensembl 69_37n -1 known missense c.121 p.G41R 1.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors HCAR2 HGNC ENSG00000182782 240 0 0.00 150 92 38.02 - - - HMG20A 0 genome.wustl.edu 37 15 77759649 77759649 + Silent SNP G G A TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 15 77759649 77759649 G A SNP HMG20A ENST00000336216 human ensembl 69_37n +1 known silent c.450 p.Q150 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMG20A HGNC ENSG00000140382 118 0 0.00 73 40 35.40 - - - HS3ST2 0 genome.wustl.edu 37 16 22926628 22926628 + Silent SNP C C T TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 16 22926628 22926628 C T SNP HS3ST2 ENST00000261374 human ensembl 69_37n +1 known silent c.849 p.G283 0.962 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST2 HGNC ENSG00000122254 108 0 0.00 66 31 31.00 - - - HSPA9 0 genome.wustl.edu 37 5 137892185 137892185 + Missense_Mutation SNP G G C TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 5 137892185 137892185 G C SNP HSPA9 ENST00000297185 human ensembl 69_37n -1 known missense c.1918 p.L640V 1.000 pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK - no_errors HSPA9 HGNC ENSG00000113013 518 0 0.00 331 174 34.32 - - - ICOSLG 0 genome.wustl.edu 37 21 45656914 45656914 + Missense_Mutation SNP C C T TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 21 45656914 45656914 C T SNP ICOSLG ENST00000344330 human ensembl 69_37n -1 known missense c.242 p.R81Q 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like - no_errors ICOSLG HGNC ENSG00000160223 317 1 0.31 169 125 42.37 - - - KALRN 0 genome.wustl.edu 37 3 124017740 124017740 + Missense_Mutation SNP C C A TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 3 124017740 124017740 C A SNP KALRN ENST00000360013 human ensembl 69_37n +1 known missense c.1066 p.H356N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 400 1 0.25 219 123 35.96 - - - KCNN2 0 genome.wustl.edu 37 5 113698868 113698868 + Missense_Mutation SNP G G C TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 5 113698868 113698868 G C SNP KCNN2 ENST00000264773 human ensembl 69_37n +1 known missense c.396 p.K132N 1.000 pfam_K_chnl_Ca-activ_SK,prints_K_chnl_Ca-activ_SK pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 33 0 0.00 13 14 51.85 - - - KIAA1524 0 genome.wustl.edu 37 3 108276094 108276094 + Silent SNP C C T TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 3 108276094 108276094 C T SNP KIAA1524 ENST00000295746 human ensembl 69_37n -1 known silent c.2181 p.L727 0.994 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 500 0 0.00 250 137 35.40 - - - KIAA2018 0 genome.wustl.edu 37 3 113377798 113377798 + Missense_Mutation SNP C C A TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 3 113377798 113377798 C A SNP KIAA2018 ENST00000316407 human ensembl 69_37n -1 known missense c.2731 p.D911Y 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors KIAA2018 HGNC ENSG00000176542 433 0 0.00 250 147 36.93 - - - LBR 0 genome.wustl.edu 37 1 225600340 225600340 + Silent SNP A A G TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 1 225600340 225600340 A G SNP LBR ENST00000272163 human ensembl 69_37n -1 known silent c.900 p.Y300 0.955 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 70 0 0.00 76 28 26.92 - - - LHX5 0 genome.wustl.edu 37 12 113905144 113905144 + Missense_Mutation SNP C C T TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 12 113905144 113905144 C T SNP LHX5 ENST00000261731 human ensembl 69_37n -1 known missense c.758 p.R253Q 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX5 HGNC ENSG00000089116 54 0 0.00 46 7 13.21 - - - MRC2 0 genome.wustl.edu 37 17 60767630 60767630 + Silent SNP C C T TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 17 60767630 60767630 C T SNP MRC2 ENST00000303375 human ensembl 69_37n +1 known silent c.3856 p.L1286 0.987 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,prints_AntifreezeII,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors MRC2 HGNC ENSG00000011028 74 0 0.00 52 20 27.78 - - - MUC5B 0 genome.wustl.edu 37 11 1266823 1266823 + Missense_Mutation SNP G G A TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 11 1266823 1266823 G A SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.8722 p.G2908R 0.431 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 177 0 0.00 35 44 55.70 - - - OR5L2 0 genome.wustl.edu 37 11 55595297 55595297 + Silent SNP G G T TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 11 55595297 55595297 G T SNP OR5L2 ENST00000378397 human ensembl 69_37n +1 known silent c.603 p.L201 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 632 0 0.00 338 190 35.98 - - - PEX7 0 genome.wustl.edu 37 6 137147540 137147540 + Missense_Mutation SNP C C G TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 6 137147540 137147540 C G SNP PEX7 ENST00000318471 human ensembl 69_37n +1 known missense c.272 p.S91W 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PEX7 HGNC ENSG00000112357 210 0 0.00 153 90 37.04 - - - PIAS4 0 genome.wustl.edu 37 19 4037695 4037695 + Missense_Mutation SNP C C T TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 19 4037695 4037695 C T SNP PIAS4 ENST00000262971 human ensembl 69_37n +1 known missense c.1355 p.P452L 0.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS4 HGNC ENSG00000105229 13 0 0.00 11 7 38.89 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 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 236 0 0.00 139 69 33.17 - - - PLA2G3 0 genome.wustl.edu 37 22 31532969 31532969 + Missense_Mutation SNP A A G TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 22 31532969 31532969 A G SNP PLA2G3 ENST00000215885 human ensembl 69_37n -1 known missense c.1124 p.I375T 0.705 pfam_PLipase_A2_euk,superfamily_PLipase_A2 pfam_PLipase_A2_euk,superfamily_PLipase_A2 - no_errors PLA2G3 HGNC ENSG00000100078 82 0 0.00 31 31 50.00 - - - PTEN 0 genome.wustl.edu 37 10 89653844 89653844 + Frame_Shift_Del DEL A A - TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 10 89653844 89653844 A - DEL PTEN ENST00000371953 human ensembl 69_37n +1 known frame_shift_del c.142 p.N48fs 1.000 smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 301 0 0.00 212 111 34.15 - - - RIOK2 0 genome.wustl.edu 37 5 96503665 96503668 + Frame_Shift_Del DEL AGAA AGAA - TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 AGAA AGAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 5 96503665 96503668 AGAA - DEL RIOK2 ENST00000283109 human ensembl 69_37n -1 known frame_shift_del c.903_900 p.S301fs 0.995:1.000:0.999:0.991 NULL pfam_RIO-like_kinase,pfam_RIO2_kinase_winged_hlx_N,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase - no_errors RIOK2 HGNC ENSG00000058729 83 0 0.00 39 20 33.90 - - - RTEL1 0 genome.wustl.edu 37 20 62322279 62322279 + Silent SNP G G C TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 20 62322279 62322279 G C SNP RTEL1 ENST00000318100 human ensembl 69_37n +1 known silent c.2535 p.A845 0.000 NULL pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 27 0 0.00 17 11 39.29 - - - SLC9A8 0 genome.wustl.edu 37 20 48466163 48466163 + Missense_Mutation SNP T T G TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 20 48466163 48466163 T G SNP SLC9A8 ENST00000417961 human ensembl 69_37n +1 known missense c.480 p.F160L 0.995 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 671 0 0.00 363 218 37.52 - - - SLCO1B3 0 genome.wustl.edu 37 12 21028168 21028168 + Splice_Site SNP G G A TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 12 21028168 21028168 G A SNP SLCO1B3 ENST00000553473 human ensembl 69_37n +1 known splice_site c.728-1 e7-1 0.906 - - - no_errors SLCO1B3 HGNC ENSG00000111700 777 0 0.00 524 260 33.16 - - - SMARCC1 0 genome.wustl.edu 37 3 47719705 47719705 + Silent SNP A A G TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 3 47719705 47719705 A G SNP SMARCC1 ENST00000254480 human ensembl 69_37n -1 known silent c.1554 p.D518 1.000 pfam_SWIRM,superfamily_Homeodomain-like,pfscan_SWIRM pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 330 0 0.00 85 123 59.13 - - - SNRNP25 0 genome.wustl.edu 37 16 105793 105793 + Splice_Site SNP G G A TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 16 105793 105793 G A SNP SNRNP25 ENST00000493672 human ensembl 69_37n +1 known splice_site c.NULL NULL 1.000 - - - no_errors SNRNP25 HGNC ENSG00000161981 223 0 0.00 141 78 35.62 - - - SNRPB 0 genome.wustl.edu 37 20 2451335 2451336 + Frame_Shift_Ins INS - - TG TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 20 2451335 2451336 - TG INS SNRPB ENST00000438552 human ensembl 69_37n -1 known frame_shift_ins c.2_1 p.M1fs 1.000:1.000 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPB HGNC ENSG00000125835 118 0 0.00 70 31 30.69 - - - TPI1 0 genome.wustl.edu 37 12 6976710 6976710 + Nonsense_Mutation SNP C C T TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 12 6976710 6976710 C T SNP TPI1 ENST00000229270 human ensembl 69_37n +1 known nonsense c.91 p.Q31* 0.995 NULL pfam_Triosephosphate_isomerase,superfamily_Triosephosphate_isomerase,tigrfam_Triosephosphate_isomerase - no_errors TPI1 HGNC ENSG00000111669 11 0 0.00 19 9 32.14 - - - UNCX 0 genome.wustl.edu 37 7 1273287 1273287 + Missense_Mutation SNP G G A TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 7 1273287 1273287 G A SNP UNCX ENST00000316333 human ensembl 69_37n +1 known missense c.406 p.E136K 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors UNCX HGNC ENSG00000164853 45 0 0.00 31 21 40.38 - - - UNCX 0 genome.wustl.edu 37 7 1273288 1273288 + Missense_Mutation SNP A A C TCGA-B6-A0WW-01A-11D-A10G-09 TCGA-B6-A0WW-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9d6f59d-7d87-4fda-ab6f-e9c2501b8600 1d66ccf6-8c14-405d-a686-07122687567f 7 1273288 1273288 A C SNP UNCX ENST00000316333 human ensembl 69_37n +1 known missense c.407 p.E136A 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors UNCX HGNC ENSG00000164853 47 0 0.00 32 21 39.62 - - -