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 ADORA1 0 genome.wustl.edu 37 1 203098133 203098133 + Missense_Mutation SNP A A T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 1 203098133 203098133 A T SNP ADORA1 ENST00000309502 human ensembl 69_37n +1 known missense c.164 p.D55V 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adenosn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 65 0 0.00 170 20 10.26 - - - AHNAK 0 genome.wustl.edu 37 11 62284301 62284301 + Missense_Mutation SNP G G A TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 11 62284301 62284301 G A SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.17588 p.S5863F 0.999 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 384 0 0.00 153 86 35.98 - - - ALDH1B1 0 genome.wustl.edu 37 9 38395914 38395914 + Missense_Mutation SNP G G T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 9 38395914 38395914 G T SNP ALDH1B1 ENST00000377698 human ensembl 69_37n +1 known missense c.169 p.V57F 0.567 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1B1 HGNC ENSG00000137124 85 0 0.00 42 15 26.32 - - - AOAH 0 genome.wustl.edu 37 7 36661342 36661342 + Silent SNP G G A TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 7 36661342 36661342 G A SNP AOAH ENST00000258749 human ensembl 69_37n -1 known silent c.627 p.S209 0.000 NULL pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 206 0 0.00 83 47 36.15 - - - ARHGAP12 0 genome.wustl.edu 37 10 32197496 32197496 + Missense_Mutation SNP C C G TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 10 32197496 32197496 C G SNP ARHGAP12 ENST00000344936 human ensembl 69_37n -1 known missense c.288 p.Q96H 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_SH3_domain,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP12 HGNC ENSG00000165322 246 0 0.00 93 85 47.75 - - - ARID1A 0 genome.wustl.edu 37 1 27106136 27106136 + Missense_Mutation SNP C C G TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 1 27106136 27106136 C G SNP ARID1A ENST00000324856 human ensembl 69_37n +1 known missense c.5747 p.S1916C 1.000 NULL 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 230 0 0.00 115 62 34.83 - - - ASAH2C 0 genome.wustl.edu 37 10 48033003 48033003 + Silent SNP T T C TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 10 48033003 48033003 T C SNP ASAH2C ENST00000426610 human ensembl 69_37n -1 known silent c.522 p.K174 0.987 pfam_Ceramidase_alk pfam_Ceramidase_alk - no_errors ASAH2C HGNC ENSG00000072444 184 0 0.00 81 45 35.71 - - - BRCA2 0 genome.wustl.edu 37 13 32912555 32912555 + Missense_Mutation SNP G G T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 13 32912555 32912555 G T SNP BRCA2 ENST00000380152 human ensembl 69_37n +1 known missense c.4063 p.D1355Y 0.011 pirsf_DNA_recomb/repair_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 100 0 0.00 60 20 24.69 - - - CDK14 0 genome.wustl.edu 37 7 90377067 90377067 + Silent SNP T T C TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 7 90377067 90377067 T C SNP CDK14 ENST00000380050 human ensembl 69_37n +1 known silent c.441 p.A147 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 CDK14 HGNC ENSG00000058091 348 0 0.00 52 68 56.67 - - - CR1 0 genome.wustl.edu 37 1 207669639 207669639 + Silent SNP G G A TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 1 207669639 207669639 G A SNP CR1 ENST00000367049 human ensembl 69_37n +1 known silent c.27 p.P9 0.000 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 30 0 0.00 21 5 19.23 - - - CXorf36 0 genome.wustl.edu 37 X 45013241 45013241 + Missense_Mutation SNP A A G TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc X 45013241 45013241 A G SNP CXorf36 ENST00000398000 human ensembl 69_37n -1 known missense c.875 p.I292T 0.328 NULL NULL - no_errors CXorf36 HGNC ENSG00000147113 76 0 0.00 50 29 36.71 - - - F8 0 genome.wustl.edu 37 X 154157239 154157240 + Frame_Shift_Ins INS - - T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc X 154157239 154157240 - T INS F8 ENST00000360256 human ensembl 69_37n -1 known frame_shift_ins c.4826_4825 p.T1609fs 0.000:0.001 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 770 0 0.00 459 182 28.39 - - - GGA3 0 genome.wustl.edu 37 17 73239562 73239562 + Missense_Mutation SNP C C T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 17 73239562 73239562 C T SNP GGA3 ENST00000584243 human ensembl 69_37n -1 known missense c.388 p.D130N 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pfscan_VHS pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pfscan_VHS - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GGA3 HGNC ENSG00000125447 96 0 0.00 69 32 31.68 - - - GUCY2C 0 genome.wustl.edu 37 12 14839103 14839103 + Missense_Mutation SNP G G C TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 12 14839103 14839103 G C SNP GUCY2C ENST00000261170 human ensembl 69_37n -1 known missense c.387 p.F129L 1.000 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 45 0 0.00 29 10 25.64 - - - HECTD4 0 genome.wustl.edu 37 12 112600859 112600860 + Frame_Shift_Ins INS - - G TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 12 112600859 112600860 - G INS HECTD4 ENST00000377560 human ensembl 69_37n -1 known frame_shift_ins c.12591_12590 p.D4198fs 0.555:1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 63 0 0.00 23 3 11.54 - - - KIDINS220 0 genome.wustl.edu 37 2 8871022 8871022 + Missense_Mutation SNP G G A TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 2 8871022 8871022 G A SNP KIDINS220 ENST00000256707 human ensembl 69_37n -1 known missense c.5144 p.P1715L 0.966 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 116 0 0.00 79 9 10.23 - - - KIRREL 0 genome.wustl.edu 37 1 158047872 158047872 + Silent SNP C C T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 1 158047872 158047872 C T SNP KIRREL ENST00000368173 human ensembl 69_37n +1 known silent c.294 p.Y98 0.915 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL HGNC ENSG00000183853 120 0 0.00 109 35 24.31 - - - KLHL34 0 genome.wustl.edu 37 X 21675572 21675572 + Missense_Mutation SNP G G T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc X 21675572 21675572 G T SNP KLHL34 ENST00000379499 human ensembl 69_37n -1 known missense c.335 p.T112N 0.743 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,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 KLHL34 HGNC ENSG00000185915 13 0 0.00 3 6 66.67 - - - MUC16 0 genome.wustl.edu 37 19 8997511 8997511 + Missense_Mutation SNP G G T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 19 8997511 8997511 G T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.40911 p.F13637L 0.001 pfam_SEA,pfscan_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 422 0 0.00 331 113 25.39 - - - MUC6 0 genome.wustl.edu 37 11 1016078 1016079 + Frame_Shift_Ins INS - - G TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 11 1016078 1016079 - G INS MUC6 ENST00000421673 human ensembl 69_37n -1 known frame_shift_ins c.6723_6722 p.A2242fs 0.000:0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 14 0 0.00 14 8 36.36 - - - MYADML 0 genome.wustl.edu 37 2 33952092 33952092 + RNA SNP C C A TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 2 33952092 33952092 C A SNP MYADML ENST00000474610 human ensembl 69_37n -1 known rna NULL NULL 0.015 - - - no_errors MYADML HGNC ENSG00000239649 36 0 0.00 14 6 30.00 - - - NAV1 0 genome.wustl.edu 37 1 201687769 201687769 + Missense_Mutation SNP G G T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 1 201687769 201687769 G T SNP NAV1 ENST00000367296 human ensembl 69_37n +1 known missense c.1112 p.R371L 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 83 0 0.00 16 39 70.91 - - - NEFM 0 genome.wustl.edu 37 8 24774866 24774866 + Missense_Mutation SNP G G A TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 8 24774866 24774866 G A SNP NEFM ENST00000221166 human ensembl 69_37n +1 known missense c.1498 p.E500K 0.958 NULL pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 48 0 0.00 19 15 44.12 - - - PCDHB16 0 genome.wustl.edu 37 5 140562339 140562339 + Nonsense_Mutation SNP C C T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 5 140562339 140562339 C T SNP PCDHB16 ENST00000361016 human ensembl 69_37n +1 known nonsense c.205 p.Q69* 0.003 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 99 0 0.00 39 27 40.91 - - - PCDHB16 0 genome.wustl.edu 37 5 140564292 140564292 + Missense_Mutation SNP G G T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 5 140564292 140564292 G T SNP PCDHB16 ENST00000361016 human ensembl 69_37n +1 known missense c.2158 p.A720S 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 60 0 0.00 25 10 28.57 - - - PIK3CG 0 genome.wustl.edu 37 7 106523500 106523500 + Silent SNP C C T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 7 106523500 106523500 C T SNP PIK3CG ENST00000359195 human ensembl 69_37n +1 known silent c.2652 p.D884 0.571 pfam_PI3/4_kinase_cat_dom,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_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,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 PIK3CG HGNC ENSG00000105851 395 1 0.25 110 105 48.84 - - - PLK2 0 genome.wustl.edu 37 5 57753376 57753378 + In_Frame_Del DEL CAG CAG - TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 5 57753376 57753378 CAG - DEL PLK2 ENST00000274289 human ensembl 69_37n -1 known in_frame_del c.748_746 p.PE249in_frame_delQ 1.000:0.947:1.000 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,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK2 HGNC ENSG00000145632 65 0 0.00 20 3 12.00 - - - PNMAL1 0 genome.wustl.edu 37 19 46973388 46973388 + Missense_Mutation SNP G G A TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 19 46973388 46973388 G A SNP PNMAL1 ENST00000313683 human ensembl 69_37n -1 known missense c.905 p.A302V 0.000 NULL NULL - no_errors PNMAL1 HGNC ENSG00000182013 152 0 0.00 69 47 40.17 - - - QSER1 0 genome.wustl.edu 37 11 32954676 32954676 + Silent SNP T T C TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 11 32954676 32954676 T C SNP QSER1 ENST00000399302 human ensembl 69_37n +1 known silent c.1485 p.S495 0.648 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 236 1 0.42 111 81 42.19 - - - RECQL5 0 genome.wustl.edu 37 17 73654533 73654533 + Missense_Mutation SNP C C T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 17 73654533 73654533 C T SNP RECQL5 ENST00000317905 human ensembl 69_37n -1 known missense c.994 p.A332T 0.989 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 98 0 0.00 168 168 49.85 - - - RIMBP2 0 genome.wustl.edu 37 12 130935822 130935822 + Missense_Mutation SNP G G T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 12 130935822 130935822 G T SNP RIMBP2 ENST00000261655 human ensembl 69_37n -1 known missense c.371 p.P124H 0.022 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 45 0 0.00 23 7 23.33 - - - SCEL 0 genome.wustl.edu 37 13 78182240 78182240 + Missense_Mutation SNP A A T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 13 78182240 78182240 A T SNP SCEL ENST00000349847 human ensembl 69_37n +1 known missense c.1207 p.S403C 0.014 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 113 1 0.88 106 25 19.08 - - - SLC13A2 0 genome.wustl.edu 37 17 26818553 26818553 + Missense_Mutation SNP G G A TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 17 26818553 26818553 G A SNP SLC13A2 ENST00000444914 human ensembl 69_37n +1 known missense c.820 p.V274M 0.878 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 71 0 0.00 25 13 34.21 - - - SPON1 0 genome.wustl.edu 37 11 14279316 14279316 + RNA SNP G G C TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 11 14279316 14279316 G C SNP SPON1 ENST00000310358 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 32 0 0.00 16 8 33.33 - - - TBC1D22B 0 genome.wustl.edu 37 6 37254787 37254787 + Missense_Mutation SNP A A G TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 6 37254787 37254787 A G SNP TBC1D22B ENST00000373491 human ensembl 69_37n +1 known missense c.806 p.H269R 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 177 0 0.00 99 35 26.12 - - - TNFRSF11A 0 genome.wustl.edu 37 18 60017101 60017101 + Missense_Mutation SNP G G A TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 18 60017101 60017101 G A SNP TNFRSF11A ENST00000586569 human ensembl 69_37n +1 known missense c.214 p.G72S 1.000 smart_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11A,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF11A HGNC ENSG00000141655 231 0 0.00 179 68 27.53 - - - TP53BP2 0 genome.wustl.edu 37 1 223991057 223991057 + Missense_Mutation SNP C C G TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 1 223991057 223991057 C G SNP TP53BP2 ENST00000343537 human ensembl 69_37n -1 known missense c.747 p.E249D 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 102 0 0.00 120 56 31.82 - - - TRAFD1 0 genome.wustl.edu 37 12 112578753 112578753 + Missense_Mutation SNP T T G TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 12 112578753 112578753 T G SNP TRAFD1 ENST00000257604 human ensembl 69_37n +1 known missense c.368 p.V123G 1.000 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC ENSG00000135148 98 0 0.00 77 31 28.70 - - - TRPC5 0 genome.wustl.edu 37 X 111078326 111078326 + Missense_Mutation SNP C C A TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc X 111078326 111078326 C A SNP TRPC5 ENST00000262839 human ensembl 69_37n -1 known missense c.1719 p.Q573H 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 491 1 0.20 412 82 16.60 - - - XIAP 0 genome.wustl.edu 37 X 123019797 123019797 + Silent SNP C C A TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc X 123019797 123019797 C A SNP XIAP ENST00000355640 human ensembl 69_37n +1 known silent c.285 p.G95 0.834 smart_BIR pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors XIAP HGNC ENSG00000101966 142 0 0.00 103 47 31.33 - - - ZDBF2 0 genome.wustl.edu 37 2 207171377 207171377 + Missense_Mutation SNP G G T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7718c3f0-1c90-4940-bc30-ea4f417851bb cca486f4-dbe7-4629-b5bc-bce1d97f9bfc 2 207171377 207171377 G T SNP ZDBF2 ENST00000374423 human ensembl 69_37n +1 known missense c.2125 p.D709Y 0.962 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 171 0 0.00 90 52 36.62 - - -