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 ACTL6B 0 genome.wustl.edu 37 7 100245130 100245131 + Frame_Shift_Ins INS - - G TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 7 100245130 100245131 - G INS ACTL6B ENST00000160382 human ensembl 69_37n -1 known frame_shift_ins c.696_695 p.N233fs 1.000:1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6B HGNC ENSG00000077080 43 0 0.00 28 4 12.50 - - - ANKRD55 0 genome.wustl.edu 37 5 55407411 55407411 + Missense_Mutation SNP G G A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 5 55407411 55407411 G A SNP ANKRD55 ENST00000505970 human ensembl 69_37n -1 putative missense c.398 p.S133L 0.945 NULL superfamily_Ankyrin_rpt-contain_dom - no_stop_codon:bad_bp_length_for_coding_region ANKRD55 HGNC ENSG00000164512 198 0 0.00 338 88 20.56 - - - C10orf32 0 genome.wustl.edu 37 10 104614108 104614108 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 10 104614108 104614108 C T SNP C10orf32 ENST00000299353 human ensembl 69_37n +1 known missense c.65 p.T22M 1.000 NULL NULL - no_errors C10orf32 HGNC ENSG00000166275 27 0 0.00 47 15 24.19 - - - C4orf40 0 genome.wustl.edu 37 4 71024261 71024261 + Nonsense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 4 71024261 71024261 C T SNP C4orf40 ENST00000344526 human ensembl 69_37n +1 known nonsense c.292 p.Q98* 0.000 NULL NULL - no_errors C4orf40 HGNC ENSG00000187533 285 0 0.00 363 202 35.75 - - - CAND2 0 genome.wustl.edu 37 3 12845079 12845080 + Frame_Shift_Ins INS - - G TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 3 12845079 12845080 - G INS CAND2 ENST00000456430 human ensembl 69_37n +1 known frame_shift_ins c.161_162 p.R55fs 0.997:0.545 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 59 0 0.00 13 6 31.58 - - - CHD6 0 genome.wustl.edu 37 20 40179966 40179966 + Missense_Mutation SNP T T G TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 20 40179966 40179966 T G SNP CHD6 ENST00000373233 human ensembl 69_37n -1 known missense c.11 p.K4T 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 238 0 0.00 222 76 25.50 - - - CTAGE5 0 genome.wustl.edu 37 14 39777695 39777695 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 14 39777695 39777695 C T SNP CTAGE5 ENST00000396158 human ensembl 69_37n +1 known missense c.1112 p.S371L 1.000 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 62 0 0.00 121 19 13.57 - - - CTTNBP2 0 genome.wustl.edu 37 7 117420559 117420559 + Missense_Mutation SNP T T C TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 7 117420559 117420559 T C SNP CTTNBP2 ENST00000160373 human ensembl 69_37n -1 known missense c.2459 p.N820S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 278 0 0.00 354 57 13.87 - - - DUSP6 0 genome.wustl.edu 37 12 89745744 89745744 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 12 89745744 89745744 C T SNP DUSP6 ENST00000279488 human ensembl 69_37n -1 known missense c.73 p.E25K 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP6 HGNC ENSG00000139318 9 0 0.00 7 4 36.36 - - - EEA1 0 genome.wustl.edu 37 12 93205078 93205078 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 12 93205078 93205078 C T SNP EEA1 ENST00000322349 human ensembl 69_37n -1 known missense c.2176 p.E726K 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 63 0 0.00 87 35 28.69 - - - EEF2 0 genome.wustl.edu 37 19 3982347 3982347 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 19 3982347 3982347 C T SNP EEF2 ENST00000309311 human ensembl 69_37n -1 known missense c.688 p.E230K 1.000 pfam_ProtSyn_GTP-bd pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 88 0 0.00 39 20 33.90 - - - ENPP1 0 genome.wustl.edu 37 6 132207790 132207790 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 6 132207790 132207790 C T SNP ENPP1 ENST00000360971 human ensembl 69_37n +1 known missense c.2533 p.P845S 0.986 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 115 0 0.00 276 70 20.23 - - - ETV4 0 genome.wustl.edu 37 17 41610700 41610701 + Frame_Shift_Ins INS - - G TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 17 41610700 41610701 - G INS ETV4 ENST00000319349 human ensembl 69_37n -1 known frame_shift_ins c.400_399 p.R133fs 1.000:1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV4 HGNC ENSG00000175832 36 0 0.00 27 5 15.62 - - - FAM114A2 0 genome.wustl.edu 37 5 153372571 153372571 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 5 153372571 153372571 C T SNP FAM114A2 ENST00000351797 human ensembl 69_37n -1 known missense c.1483 p.E495K 0.441 NULL pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 201 0 0.00 450 146 24.50 - - - FAM174B 0 genome.wustl.edu 37 15 93198621 93198621 + Missense_Mutation SNP G G A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 15 93198621 93198621 G A SNP FAM174B ENST00000327355 human ensembl 69_37n -1 known missense c.269 p.T90I 1.000 pfam_DUF1180 pfam_DUF1180 - no_errors FAM174B HGNC ENSG00000185442 16 0 0.00 10 6 37.50 - - - FAM83A 0 genome.wustl.edu 37 8 124195351 124195351 + Frame_Shift_Del DEL G G - TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 8 124195351 124195351 G - DEL FAM83A ENST00000318462 human ensembl 69_37n +1 known frame_shift_del c.255 p.G86fs 0.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83A HGNC ENSG00000147689 18 0 0.00 17 3 14.29 - - - FMN2 0 genome.wustl.edu 37 1 240256070 240256070 + Nonsense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 1 240256070 240256070 C T SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known nonsense c.661 p.Q221* 0.991 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 9 0 0.00 11 8 42.11 - - - FSD1L 0 genome.wustl.edu 37 9 108226577 108226577 + Missense_Mutation SNP A A T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 9 108226577 108226577 A T SNP FSD1L ENST00000374716 human ensembl 69_37n +1 known missense c.76 p.I26F 1.000 superfamily_FH2_actin-bd,smart_Bbox_C superfamily_FH2_actin-bd,smart_Bbox_C - no_errors FSD1L HGNC ENSG00000106701 140 0 0.00 89 12 11.88 - - - GAGE13 0 genome.wustl.edu 37 X 49192769 49192769 + Silent SNP G G A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 X 49192769 49192769 G A SNP GAGE13 ENST00000381751 human ensembl 69_37n +1 known silent c.282 p.G94 0.001 pfam_GAGE pfam_GAGE - no_errors GAGE13 HGNC ENSG00000237597 44 0 0.00 64 20 23.81 - - - GLYR1 0 genome.wustl.edu 37 16 4862228 4862229 + Frame_Shift_Ins INS - - C TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 16 4862228 4862229 - C INS GLYR1 ENST00000321919 human ensembl 69_37n -1 known frame_shift_ins c.1141_1140 p.R380fs 0.990:0.170 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP - no_errors GLYR1 HGNC ENSG00000140632 38 0 0.00 77 9 10.47 - - - GNE 0 genome.wustl.edu 37 9 36217505 36217505 + Missense_Mutation SNP T T C TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 9 36217505 36217505 T C SNP GNE ENST00000396594 human ensembl 69_37n -1 known missense c.2119 p.I707V 0.996 NULL pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase - no_errors GNE HGNC ENSG00000159921 91 0 0.00 231 91 28.26 - - - GOLGA6L5 0 genome.wustl.edu 37 15 85053188 85053188 + RNA SNP C C G TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 15 85053188 85053188 C G SNP GOLGA6L5 ENST00000414190 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors GOLGA6L5 HGNC ENSG00000230373 26 0 0.00 12 10 45.45 - - - HDAC2 0 genome.wustl.edu 37 6 114274557 114274557 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 6 114274557 114274557 C T SNP HDAC2 ENST00000398283 human ensembl 69_37n -1 known missense c.805 p.D269N 1.000 pfam_His_deacetylse_dom,prints_His_deacetylse pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC2 HGNC ENSG00000196591 147 0 0.00 162 33 16.92 - - - HECTD4 0 genome.wustl.edu 37 12 112600859 112600860 + Frame_Shift_Ins INS - - G TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 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 25 0 0.00 45 5 10.00 - - - HRG 0 genome.wustl.edu 37 3 186395388 186395388 + Missense_Mutation SNP G G A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 3 186395388 186395388 G A SNP HRG ENST00000232003 human ensembl 69_37n +1 known missense c.1294 p.G432S 0.110 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors HRG HGNC ENSG00000113905 81 0 0.00 591 109 15.57 - - - JAG1 0 genome.wustl.edu 37 20 10627609 10627609 + Silent SNP G G A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 20 10627609 10627609 G A SNP JAG1 ENST00000254958 human ensembl 69_37n -1 known silent c.1863 p.F621 1.000 pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 116 0 0.00 70 49 41.18 - - - JPH4 0 genome.wustl.edu 37 14 24040435 24040436 + Frame_Shift_Ins INS - - C TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 14 24040435 24040436 - C INS JPH4 ENST00000356300 human ensembl 69_37n -1 known frame_shift_ins c.1505_1504 p.A502fs 0.051:0.057 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 26 0 0.00 73 9 10.98 - - - KIAA1522 0 genome.wustl.edu 37 1 33236015 33236015 + Missense_Mutation SNP C C G TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 1 33236015 33236015 C G SNP KIAA1522 ENST00000401073 human ensembl 69_37n +1 known missense c.1235 p.S412C 1.000 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 23 0 0.00 60 12 16.67 - - - KPRP 0 genome.wustl.edu 37 1 152733184 152733184 + Missense_Mutation SNP G G A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 1 152733184 152733184 G A SNP KPRP ENST00000368773 human ensembl 69_37n +1 known missense c.1120 p.V374I 0.000 NULL NULL - no_errors KPRP HGNC ENSG00000203786 54 0 0.00 218 81 27.09 - - - LAMTOR2 0 genome.wustl.edu 37 1 156025183 156025184 + Frame_Shift_Ins INS - - G TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 1 156025183 156025184 - G INS LAMTOR2 ENST00000368302 human ensembl 69_37n +1 known frame_shift_ins c.198_199 p.D66fs 1.000:1.000 pfam_Dynein_light-rel,smart_Dynein_light-rel pfam_Dynein_light-rel,smart_Dynein_light-rel - no_errors LAMTOR2 HGNC ENSG00000116586 74 0 0.00 60 55 47.83 - - - LIN28A 0 genome.wustl.edu 37 1 26737895 26737895 + Missense_Mutation SNP C C A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 1 26737895 26737895 C A SNP LIN28A ENST00000254231 human ensembl 69_37n +1 known missense c.50 p.A17E 1.000 NULL pfam_CSP_DNA-bd,pfam_Znf_CCHC,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd - no_errors LIN28A HGNC ENSG00000131914 12 0 0.00 12 5 29.41 - - - LTBP2 0 genome.wustl.edu 37 14 75017969 75017969 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 14 75017969 75017969 C T SNP LTBP2 ENST00000261978 human ensembl 69_37n -1 known missense c.1484 p.R495Q 0.994 NULL pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 17 0 0.00 3 5 62.50 - - - PAK6 0 genome.wustl.edu 37 15 40557093 40557094 + Frame_Shift_Ins INS - - C TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 15 40557093 40557094 - C INS PAK6 ENST00000260404 human ensembl 69_37n +1 known frame_shift_ins c.107_108 p.Q39fs 1.000:0.997 pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK6 HGNC ENSG00000137843 63 0 0.00 15 2 11.76 - - - PAX2 0 genome.wustl.edu 37 10 102509528 102509529 + Frame_Shift_Ins INS - - G TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 10 102509528 102509529 - G INS PAX2 ENST00000370296 human ensembl 69_37n +1 known frame_shift_ins c.69_70 p.V25fs 1.000:1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom - no_errors PAX2 HGNC ENSG00000075891 22 0 0.00 14 2 12.50 - - - PKD1L3 0 genome.wustl.edu 37 16 72020171 72020171 + RNA SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 16 72020171 72020171 C T SNP PKD1L3 ENST00000335106 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PKD1L3 HGNC ENSG00000187008 167 0 0.00 292 70 19.34 - - - POLD2 0 genome.wustl.edu 37 7 44161448 44161448 + Missense_Mutation SNP C C A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 7 44161448 44161448 C A SNP POLD2 ENST00000406581 human ensembl 69_37n -1 known missense c.205 p.A69S 1.000 NULL pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC ENSG00000106628 70 0 0.00 155 62 28.31 - - - PRSS53 0 genome.wustl.edu 37 16 31098991 31098992 + Frame_Shift_Ins INS - - G TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 16 31098991 31098992 - G INS PRSS53 ENST00000280606 human ensembl 69_37n -1 known frame_shift_ins c.109_108 p.K36fs 0.015:0.001 superfamily_Pept_cys/ser_Trypsin-like,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS53 HGNC ENSG00000151006 44 0 0.00 42 5 10.64 - - - PTPRD 0 genome.wustl.edu 37 9 8518366 8518366 + Missense_Mutation SNP G G A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 9 8518366 8518366 G A SNP PTPRD ENST00000356435 human ensembl 69_37n -1 known missense c.1025 p.T342M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 80 0 0.00 47 29 38.16 - - - RASGRP3 0 genome.wustl.edu 37 2 33749576 33749576 + Silent SNP C C G TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 2 33749576 33749576 C G SNP RASGRP3 ENST00000402538 human ensembl 69_37n +1 known silent c.768 p.L256 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP3 HGNC ENSG00000152689 140 0 0.00 184 56 23.33 - - - RBPJL 0 genome.wustl.edu 37 20 43942234 43942234 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 20 43942234 43942234 C T SNP RBPJL ENST00000343694 human ensembl 69_37n +1 known missense c.746 p.T249M 0.984 pfam_Beta-trefoil_DNA-bd_dom,superfamily_Beta-trefoil_DNA-bd_dom pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 72 0 0.00 280 91 24.53 - - - RIN2 0 genome.wustl.edu 37 20 19955585 19955586 + Frame_Shift_Ins INS - - C TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 20 19955585 19955586 - C INS RIN2 ENST00000255006 human ensembl 69_37n +1 known frame_shift_ins c.1063_1064 p.P358fs 1.000:0.999 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 37 0 0.00 32 4 11.11 - - - RNF14 0 genome.wustl.edu 37 5 141362978 141362978 + Frame_Shift_Del DEL A A - TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 5 141362978 141362978 A - DEL RNF14 ENST00000347642 human ensembl 69_37n +1 known frame_shift_del c.1097 p.A367fs 1.000 NULL pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF14 HGNC ENSG00000013561 112 0 0.00 145 34 18.89 - - - RNF20 0 genome.wustl.edu 37 9 104302598 104302598 + Silent SNP A A C TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 9 104302598 104302598 A C SNP RNF20 ENST00000389120 human ensembl 69_37n +1 known silent c.243 p.R81 0.988 NULL superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 115 0 0.00 310 88 22.11 - - - SAMD9 0 genome.wustl.edu 37 7 92734890 92734890 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 7 92734890 92734890 C T SNP SAMD9 ENST00000379958 human ensembl 69_37n -1 known missense c.521 p.R174H 0.666 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 172 0 0.00 343 94 21.51 - - - SART3 0 genome.wustl.edu 37 12 108954695 108954695 + Missense_Mutation SNP G G A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 12 108954695 108954695 G A SNP SART3 ENST00000228284 human ensembl 69_37n -1 known missense c.236 p.S79F 1.000 NULL pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 110 0 0.00 118 94 44.34 - - - SERPINC1 0 genome.wustl.edu 37 1 173883952 173883952 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 1 173883952 173883952 C T SNP SERPINC1 ENST00000367698 human ensembl 69_37n -1 known missense c.147 p.M49I 1.000 superfamily_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINC1 HGNC ENSG00000117601 71 0 0.00 124 41 24.85 - - - SGOL1 0 genome.wustl.edu 37 3 20216373 20216373 + Missense_Mutation SNP G G A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 3 20216373 20216373 G A SNP SGOL1 ENST00000263753 human ensembl 69_37n -1 known missense c.650 p.A217V 0.000 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 189 0 0.00 144 67 31.75 - - - SLC23A2 0 genome.wustl.edu 37 20 4850568 4850569 + Frame_Shift_Ins INS - - G TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 20 4850568 4850569 - G INS SLC23A2 ENST00000338244 human ensembl 69_37n -1 known frame_shift_ins c.1234_1233 p.I411fs 1.000:0.974 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 43 0 0.00 35 4 10.26 - - - SLC35F3 0 genome.wustl.edu 37 1 234454539 234454539 + Missense_Mutation SNP G G T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 1 234454539 234454539 G T SNP SLC35F3 ENST00000366618 human ensembl 69_37n +1 known missense c.997 p.A333S 1.000 pfam_DUF914_euk pfam_DMT,pfam_DUF250,pfam_DUF914_euk - no_errors SLC35F3 HGNC ENSG00000183780 211 0 0.00 497 130 20.73 - - - SORCS3 0 genome.wustl.edu 37 10 107007042 107007042 + Missense_Mutation SNP G G C TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 10 107007042 107007042 G C SNP SORCS3 ENST00000369701 human ensembl 69_37n +1 known missense c.3058 p.E1020Q 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 286 0 0.00 307 77 20.05 - - - SPHKAP 0 genome.wustl.edu 37 2 228884721 228884721 + Silent SNP T T C TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 2 228884721 228884721 T C SNP SPHKAP ENST00000392056 human ensembl 69_37n -1 known silent c.849 p.T283 0.001 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 238 0 0.00 235 86 26.79 - - - SPRED3 0 genome.wustl.edu 37 19 38881061 38881062 + Frame_Shift_Ins INS - - G TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 19 38881061 38881062 - G INS SPRED3 ENST00000338502 human ensembl 69_37n +1 known frame_shift_ins c.119_120 p.A43fs 1.000:1.000 smart_EVH1,pfscan_EVH1 pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors SPRED3 HGNC ENSG00000188766 10 0 0.00 6 4 40.00 - - - SPTLC1 0 genome.wustl.edu 37 9 94817703 94817703 + Missense_Mutation SNP C C A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 9 94817703 94817703 C A SNP SPTLC1 ENST00000262554 human ensembl 69_37n -1 known missense c.764 p.C255F 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC1 HGNC ENSG00000090054 87 0 0.00 190 64 25.20 - - - TDRD1 0 genome.wustl.edu 37 10 115981122 115981122 + Missense_Mutation SNP C C G TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 10 115981122 115981122 C G SNP TDRD1 ENST00000251864 human ensembl 69_37n +1 known missense c.2777 p.S926C 0.614 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 136 0 0.00 165 42 20.29 - - - TMEM132D 0 genome.wustl.edu 37 12 129566471 129566471 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 12 129566471 129566471 C T SNP TMEM132D ENST00000422113 human ensembl 69_37n -1 known missense c.1756 p.E586K 0.976 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 23 0 0.00 38 15 28.30 - - - TMEM151B 0 genome.wustl.edu 37 6 44243324 44243324 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 6 44243324 44243324 C T SNP TMEM151B ENST00000451188 human ensembl 69_37n +1 known missense c.761 p.A254V 1.000 NULL NULL - no_errors TMEM151B HGNC ENSG00000178233 28 0 0.00 23 8 25.81 - - - TP53 0 genome.wustl.edu 37 17 7577118 7577118 + Missense_Mutation SNP C C A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 17 7577118 7577118 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.820 p.V274F 0.074 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 123 0 0.00 212 119 35.95 - - - TRDN 0 genome.wustl.edu 37 6 123869608 123869608 + Missense_Mutation SNP T T C TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 6 123869608 123869608 T C SNP TRDN ENST00000398178 human ensembl 69_37n -1 known missense c.382 p.T128A 0.882 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 129 0 0.00 124 127 50.60 - - - TRIM49C 0 genome.wustl.edu 37 11 89774444 89774444 + Missense_Mutation SNP G G A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 11 89774444 89774444 G A SNP TRIM49C ENST00000448984 human ensembl 69_37n +1 known missense c.1085 p.R362Q 0.013 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49C HGNC ENSG00000204449 112 0 0.00 275 58 17.42 - - - TSHR 0 genome.wustl.edu 37 14 81610007 81610007 + Silent SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 14 81610007 81610007 C T SNP TSHR ENST00000298171 human ensembl 69_37n +1 known silent c.1605 p.L535 0.619 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 498 0 0.00 1235 466 27.40 - - - UCP1 0 genome.wustl.edu 37 4 141484632 141484632 + Silent SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 4 141484632 141484632 C T SNP UCP1 ENST00000262999 human ensembl 69_37n -1 known silent c.366 p.T122 0.096 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors UCP1 HGNC ENSG00000109424 126 0 0.00 177 96 35.16 - - - WIPI1 0 genome.wustl.edu 37 17 66430737 66430737 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 17 66430737 66430737 C T SNP WIPI1 ENST00000262139 human ensembl 69_37n -1 known missense c.652 p.D218N 0.999 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI1 HGNC ENSG00000070540 167 0 0.00 126 59 31.89 - - - XIRP2 0 genome.wustl.edu 37 2 168099578 168099578 + Missense_Mutation SNP C C T TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 2 168099578 168099578 C T SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.1676 p.S559L 0.996 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 39 0 0.00 45 10 18.18 - - - ZNF238 0 genome.wustl.edu 37 1 244218261 244218261 + Silent SNP G G A TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 1 244218261 244218261 G A SNP ZNF238 ENST00000358704 human ensembl 69_37n +1 known silent c.1185 p.Q395 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF238 HGNC ENSG00000179456 34 0 0.00 67 24 26.37 - - - ZNF362 0 genome.wustl.edu 37 1 33745932 33745933 + Frame_Shift_Ins INS - - C TCGA-BH-A0BR-01A-21W-A12T-09 TCGA-BH-A0BR-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df82226e-2242-418b-9f5f-0a5e531826a4 9a94cf94-c89a-4460-83de-0574acf85969 1 33745932 33745933 - C INS ZNF362 ENST00000373428 human ensembl 69_37n +1 known frame_shift_ins c.557_558 p.K189fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF362 HGNC ENSG00000160094 32 0 0.00 34 5 12.82 - - -