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 ACLY 0 genome.wustl.edu 37 17 40068795 40068798 + Frame_Shift_Del DEL TCTG TCTG - TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 TCTG TCTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 17 40068795 40068798 TCTG - DEL ACLY ENST00000352035 human ensembl 69_37n -1 known frame_shift_del c.160 p.N54fs 0.997 pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 87 0 0.00 66 35 34.65 - - - ACVR1B 0 genome.wustl.edu 37 12 52370172 52370172 + Silent SNP C C T TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 12 52370172 52370172 C T SNP ACVR1B ENST00000257963 human ensembl 69_37n +1 known silent c.393 p.I131 0.994 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1B HGNC ENSG00000135503 122 1 0.81 92 54 36.99 - - - AHCY 0 genome.wustl.edu 37 20 32878392 32878392 + Silent SNP G G A TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 20 32878392 32878392 G A SNP AHCY ENST00000217426 human ensembl 69_37n -1 known silent c.819 p.V273 0.999 pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCY HGNC ENSG00000101444 167 0 0.00 138 83 37.56 - - - AKAP9 0 genome.wustl.edu 37 7 91652213 91652213 + Silent SNP C C G TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 7 91652213 91652213 C G SNP AKAP9 ENST00000359028 human ensembl 69_37n +1 known silent c.4074 p.L1358 0.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 179 0 0.00 101 44 30.34 - - - ALPK2 0 genome.wustl.edu 37 18 56191061 56191061 + Missense_Mutation SNP A A C TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 18 56191061 56191061 A C SNP ALPK2 ENST00000361673 human ensembl 69_37n -1 known missense c.5642 p.L1881R 0.993 superfamily_Kinase-like_dom pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC ENSG00000198796 205 0 0.00 44 47 51.09 - - - AP1B1 0 genome.wustl.edu 37 22 29727482 29727482 + Missense_Mutation SNP G G A TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 22 29727482 29727482 G A SNP AP1B1 ENST00000357586 human ensembl 69_37n -1 known missense c.2480 p.T827I 1.000 superfamily_Coatomer/clathrin_app_Ig-like pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu - no_errors AP1B1 HGNC ENSG00000100280 89 0 0.00 62 12 16.22 - - - BCL6B 0 genome.wustl.edu 37 17 6929853 6929853 + Missense_Mutation SNP G G T TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 17 6929853 6929853 G T SNP BCL6B ENST00000293805 human ensembl 69_37n +1 known missense c.967 p.D323Y 0.261 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 60 0 0.00 47 7 12.96 - - - BNC1 0 genome.wustl.edu 37 15 83932783 83932783 + Missense_Mutation SNP G G A TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 15 83932783 83932783 G A SNP BNC1 ENST00000345382 human ensembl 69_37n -1 known missense c.1220 p.A407V 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 145 0 0.00 52 38 41.76 - - - BRCA2 0 genome.wustl.edu 37 13 32912296 32912298 + In_Frame_Del DEL TGT TGT - TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 13 32912296 32912298 TGT - DEL BRCA2 ENST00000380152 human ensembl 69_37n +1 known in_frame_del c.3804_3806 p.V1270in_frame_del 0.207:0.005:0.021 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 81 0 0.00 20 25 55.56 - - - CECR2 0 genome.wustl.edu 37 22 18022046 18022047 + Frame_Shift_Ins INS - - G TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 22 18022046 18022047 - G INS CECR2 ENST00000400573 human ensembl 69_37n +1 novel frame_shift_ins c.2148_2149 p.A718fs 0.066:0.122 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 47 0 0.00 39 5 11.36 - - - DISP1 0 genome.wustl.edu 37 1 223177609 223177609 + Missense_Mutation SNP C C T TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 1 223177609 223177609 C T SNP DISP1 ENST00000284476 human ensembl 69_37n +1 known missense c.2870 p.S957L 0.034 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 94 0 0.00 60 35 36.84 - - - FLNA 0 genome.wustl.edu 37 X 153593204 153593204 + Missense_Mutation SNP C C T TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 X 153593204 153593204 C T SNP FLNA ENST00000369850 human ensembl 69_37n -1 known missense c.1813 p.D605N 0.993 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 23 0 0.00 21 9 30.00 - - - FYCO1 0 genome.wustl.edu 37 3 46008081 46008081 + Silent SNP C C T TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 3 46008081 46008081 C T SNP FYCO1 ENST00000535325 human ensembl 69_37n -1 known silent c.2745 p.L915 0.986 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 55 0 0.00 28 4 12.50 - - - GBP6 0 genome.wustl.edu 37 1 89849788 89849788 + Silent SNP G G A TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 1 89849788 89849788 G A SNP GBP6 ENST00000370456 human ensembl 69_37n +1 known silent c.1605 p.Q535 0.015 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP6 HGNC ENSG00000183347 153 0 0.00 66 13 16.46 - - - GPR125 0 genome.wustl.edu 37 4 22440036 22440036 + Missense_Mutation SNP T T A TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 4 22440036 22440036 T A SNP GPR125 ENST00000334304 human ensembl 69_37n -1 known missense c.928 p.T310S 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC ENSG00000152990 223 0 0.00 46 18 28.12 - - - HERC1 0 genome.wustl.edu 37 15 63958635 63958635 + Missense_Mutation SNP G G A TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 15 63958635 63958635 G A SNP HERC1 ENST00000443617 human ensembl 69_37n -1 known missense c.8243 p.P2748L 1.000 superfamily_UBA-like pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 156 0 0.00 61 35 36.46 - - - HERC2P4 0 genome.wustl.edu 37 16 32163575 32163575 + RNA SNP G G A TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 16 32163575 32163575 G A SNP HERC2P4 ENST00000563904 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 42 0 0.00 13 19 59.38 - - - IL27RA 0 genome.wustl.edu 37 19 14143204 14143204 + Missense_Mutation SNP C C G TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 19 14143204 14143204 C G SNP IL27RA ENST00000263379 human ensembl 69_37n +1 known missense c.107 p.A36G 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 52 0 0.00 21 13 38.24 - - - MED23 0 genome.wustl.edu 37 6 131908938 131908938 + Nonsense_Mutation SNP G G A TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 6 131908938 131908938 G A SNP MED23 ENST00000368058 human ensembl 69_37n -1 known nonsense c.4006 p.R1336* 1.000 NULL pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 179 1 0.56 82 22 21.15 - - - MIR548C 0 genome.wustl.edu 37 12 65016369 65016370 + RNA INS - - C TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 12 65016369 65016370 - C INS MIR548C ENST00000384815 human ensembl 69_37n +1 known rna NULL NULL 0.001:0.000 - - - no_errors MIR548C HGNC ENSG00000207546 23 0 0.00 4 3 42.86 - - - OR10A3 0 genome.wustl.edu 37 11 7960264 7960264 + Silent SNP G G A TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 11 7960264 7960264 G A SNP OR10A3 ENST00000360759 human ensembl 69_37n -1 known silent c.804 p.P268 0.800 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10A3 HGNC ENSG00000170683 286 2 0.69 221 52 18.98 - - - PDZD2 0 genome.wustl.edu 37 5 32088972 32088972 + Silent SNP T T C TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 5 32088972 32088972 T C SNP PDZD2 ENST00000282493 human ensembl 69_37n +1 known silent c.5418 p.N1806 0.007 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 143 0 0.00 82 49 37.40 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 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 133 0 0.00 53 35 39.77 - - - PPAN-P2RY11 0 genome.wustl.edu 37 19 10224677 10224677 + Missense_Mutation SNP G G T TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 19 10224677 10224677 G T SNP PPAN-P2RY11 ENST00000393796 human ensembl 69_37n +1 known missense c.1648 p.G550C 1.000 pfam_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_Brix,pfam_7TM_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_supfam - no_errors PPAN-P2RY11 HGNC ENSG00000243207 26 0 0.00 10 14 58.33 - - - PRAMEF7 0 genome.wustl.edu 37 1 12980232 12980232 + Silent SNP G G A TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 1 12980232 12980232 G A SNP PRAMEF7 ENST00000330881 human ensembl 69_37n +1 known silent c.1424 p.*475 0.000 NULL NULL - no_errors PRAMEF7 HGNC ENSG00000204510 39 0 0.00 37 6 13.95 - - - PTGDR 0 genome.wustl.edu 37 14 52741544 52741544 + Silent SNP G G C TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 14 52741544 52741544 G C SNP PTGDR ENST00000306051 human ensembl 69_37n +1 known silent c.942 p.V314 0.998 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Pglndn_D_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 114 0 0.00 58 35 37.63 - - - RAPGEF4 0 genome.wustl.edu 37 2 173900899 173900900 + Frame_Shift_Ins INS - - G TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 2 173900899 173900900 - G INS RAPGEF4 ENST00000397081 human ensembl 69_37n +1 known frame_shift_ins c.2747_2748 p.E917fs 1.000:1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 274 0 0.00 193 24 11.06 - - - RC3H1 0 genome.wustl.edu 37 1 173939653 173939653 + Missense_Mutation SNP C C T TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 1 173939653 173939653 C T SNP RC3H1 ENST00000258349 human ensembl 69_37n -1 known missense c.1324 p.E442K 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 228 0 0.00 103 135 56.72 - - - SH3PXD2A 0 genome.wustl.edu 37 10 105363029 105363029 + Nonsense_Mutation SNP G G T TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 10 105363029 105363029 G T SNP SH3PXD2A ENST00000369774 human ensembl 69_37n -1 known nonsense c.1946 p.S649* 0.144 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 74 0 0.00 72 8 10.00 - - - SPEG 0 genome.wustl.edu 37 2 220354586 220354586 + Missense_Mutation SNP C C T TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 2 220354586 220354586 C T SNP SPEG ENST00000312358 human ensembl 69_37n +1 novel missense c.8846 p.S2949F 0.990 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC ENSG00000072195 17 0 0.00 4 5 55.56 - - - TBC1D3B 0 genome.wustl.edu 37 17 34493597 34493597 + Silent SNP C C T TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 17 34493597 34493597 C T SNP TBC1D3B ENST00000398801 human ensembl 69_37n -1 known silent c.1428 p.Q476 0.127 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D3B HGNC ENSG00000224226 24 0 0.00 34 14 29.17 - - - TRPC3 0 genome.wustl.edu 37 4 122853579 122853579 + Silent SNP G G A TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 4 122853579 122853579 G A SNP TRPC3 ENST00000379645 human ensembl 69_37n -1 known silent c.834 p.H278 0.989 pfam_TRP_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 34 0 0.00 28 8 22.22 - - - UGT2B7 0 genome.wustl.edu 37 4 69973882 69973882 + Silent SNP C C T TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 4 69973882 69973882 C T SNP UGT2B7 ENST00000305231 human ensembl 69_37n +1 known silent c.1152 p.I384 1.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B7 HGNC ENSG00000171234 283 0 0.00 146 26 15.12 - - - ZSCAN5C 0 genome.wustl.edu 37 19 56720191 56720191 + Silent SNP A A G TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 267a951b-29b7-4849-9ea7-d2205838fcc7 ae64a42d-572d-46be-8392-f04ec3ab5bf9 19 56720191 56720191 A G SNP ZSCAN5C ENST00000376267 human ensembl 69_37n +1 known silent c.1113 p.L371 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5C HGNC ENSG00000204532 67 0 0.00 77 9 10.47 - - -