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-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 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 21 0 0.00 25 5 16.67 - - - ADAMTS9 0 genome.wustl.edu 37 3 64589940 64589940 + Missense_Mutation SNP G G T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 3 64589940 64589940 G T SNP ADAMTS9 ENST00000498707 human ensembl 69_37n -1 known missense c.3542 p.A1181E 0.000 superfamily_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS9 HGNC ENSG00000163638 167 0 0.00 215 55 20.37 - - - ANK2 0 genome.wustl.edu 37 4 114199618 114199618 + Silent SNP C C T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 4 114199618 114199618 C T SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known silent c.1785 p.N595 0.988 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 65 0 0.00 62 24 27.27 - - - ASXL3 0 genome.wustl.edu 37 18 31325701 31325701 + Missense_Mutation SNP C C A TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 18 31325701 31325701 C A SNP ASXL3 ENST00000269197 human ensembl 69_37n +1 known missense c.5889 p.F1963L 0.998 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 58 0 0.00 33 15 31.25 - - - ATG2A 0 genome.wustl.edu 37 11 64669591 64669591 + Missense_Mutation SNP C C T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 11 64669591 64669591 C T SNP ATG2A ENST00000421419 human ensembl 69_37n -1 known missense c.3968 p.S1323N 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 29 0 0.00 28 10 26.32 - - - ATP2B3 0 genome.wustl.edu 37 X 152807210 152807210 + Missense_Mutation SNP G G A TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e X 152807210 152807210 G A SNP ATP2B3 ENST00000263519 human ensembl 69_37n +1 known missense c.490 p.V164I 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ENSG00000067842 40 0 0.00 26 18 40.91 - - - B3GNT8 0 genome.wustl.edu 37 19 41932386 41932387 + Frame_Shift_Ins INS - - G TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 19 41932386 41932387 - G INS B3GNT8 ENST00000321702 human ensembl 69_37n -1 known frame_shift_ins c.298_297 p.A99fs 0.133:0.128 NULL pfam_Glyco_trans_31 - no_errors B3GNT8 HGNC ENSG00000177191 8 0 0.00 4 2 33.33 - - - BBS2 0 genome.wustl.edu 37 16 56536710 56536710 + Missense_Mutation SNP C C T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 16 56536710 56536710 C T SNP BBS2 ENST00000245157 human ensembl 69_37n -1 known missense c.815 p.R272Q 1.000 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot - no_errors BBS2 HGNC ENSG00000125124 104 1 0.95 94 29 23.58 - - - BCL2L13 0 genome.wustl.edu 37 22 18209657 18209657 + Missense_Mutation SNP G G T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 22 18209657 18209657 G T SNP BCL2L13 ENST00000317582 human ensembl 69_37n +1 known missense c.815 p.G272V 1.000 NULL pfam_Bcl2_BH,pfscan_Bcl2-like_apoptosis - no_errors BCL2L13 HGNC ENSG00000099968 58 0 0.00 18 29 61.70 - - - BLCAP 0 genome.wustl.edu 37 20 36147543 36147543 + Missense_Mutation SNP G G C TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 20 36147543 36147543 G C SNP BLCAP ENST00000373537 human ensembl 69_37n -1 known missense c.34 p.L12V 1.000 pfam_BC10-like pfam_BC10-like - no_errors BLCAP HGNC ENSG00000166619 40 0 0.00 31 8 20.51 - - - C16orf78 0 genome.wustl.edu 37 16 49433130 49433130 + Missense_Mutation SNP G G A TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 16 49433130 49433130 G A SNP C16orf78 ENST00000299191 human ensembl 69_37n +1 known missense c.739 p.V247I 0.002 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 110 0 0.00 132 24 15.38 - - - C2orf29 0 genome.wustl.edu 37 2 101879132 101879132 + Missense_Mutation SNP G G A TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 2 101879132 101879132 G A SNP C2orf29 ENST00000289382 human ensembl 69_37n +1 known missense c.811 p.G271R 1.000 NULL pfam_DUF2363 - no_errors C2orf29 HGNC ENSG00000158435 188 0 0.00 73 27 27.00 - - - C9orf153 0 genome.wustl.edu 37 9 88842313 88842313 + Splice_Site SNP T T A TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 9 88842313 88842313 T A SNP C9orf153 ENST00000376001 human ensembl 69_37n -1 known splice_site c.243-2 e3-2 0.000 - - - no_errors C9orf153 HGNC ENSG00000187753 53 0 0.00 35 14 28.57 - - - DAAM1 0 genome.wustl.edu 37 14 59792440 59792440 + Missense_Mutation SNP T T A TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 14 59792440 59792440 T A SNP DAAM1 ENST00000351081 human ensembl 69_37n +1 known missense c.1048 p.F350I 1.000 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC ENSG00000100592 288 0 0.00 145 74 33.79 - - - DISP2 0 genome.wustl.edu 37 15 40660037 40660038 + Frame_Shift_Ins INS - - G TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 15 40660037 40660038 - G INS DISP2 ENST00000267889 human ensembl 69_37n +1 known frame_shift_ins c.1724_1725 p.L578fs 0.288:0.002 pfscan_SSD pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 18 0 0.00 15 3 16.67 - - - EEF2K 0 genome.wustl.edu 37 16 22268146 22268146 + Silent SNP C C T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 16 22268146 22268146 C T SNP EEF2K ENST00000263026 human ensembl 69_37n +1 known silent c.696 p.I232 0.984 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 64 0 0.00 56 14 20.00 - - - FAM22B 0 genome.wustl.edu 37 10 81465816 81465816 + Missense_Mutation SNP C C T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 10 81465816 81465816 C T SNP FAM22B ENST00000429828 human ensembl 69_37n +1 known missense c.401 p.P134L 0.000 NULL NULL - no_errors FAM22B HGNC ENSG00000188199 8 0 0.00 8 10 55.56 - - - FLG 0 genome.wustl.edu 37 1 152285981 152285981 + Missense_Mutation SNP G G A TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 1 152285981 152285981 G A SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.1381 p.R461W 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 196 0 0.00 153 76 33.19 - - - GPR52 0 genome.wustl.edu 37 1 174417411 174417411 + Silent SNP C C A TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 1 174417411 174417411 C A SNP GPR52 ENST00000367685 human ensembl 69_37n +1 known silent c.162 p.I54 1.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR52 HGNC ENSG00000203737 284 0 0.00 182 102 35.66 - - - IGKV2D-26 0 genome.wustl.edu 37 2 90025217 90025218 + Frame_Shift_Ins INS - - C TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 2 90025217 90025218 - C INS IGKV2D-26 ENST00000390268 human ensembl 69_37n +1 known frame_shift_ins c.65_66 p.V23fs 0.000:0.000 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV2D-26 HGNC ENSG00000211623 168 0 0.00 202 49 19.52 - - - ITGB7 0 genome.wustl.edu 37 12 53594062 53594063 + Frame_Shift_Ins INS - - C TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 12 53594062 53594063 - C INS ITGB7 ENST00000267082 human ensembl 69_37n -1 known frame_shift_ins c.166_165 p.L55fs 0.994:0.997 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB7 HGNC ENSG00000139626 113 0 0.00 85 350 80.46 - - - LRRC43 0 genome.wustl.edu 37 12 122669187 122669187 + Missense_Mutation SNP G G A TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 12 122669187 122669187 G A SNP LRRC43 ENST00000339777 human ensembl 69_37n +1 known missense c.272 p.R91H 0.836 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 98 0 0.00 80 38 32.20 - - - MED12 0 genome.wustl.edu 37 X 70344907 70344907 + Missense_Mutation SNP C C T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e X 70344907 70344907 C T SNP MED12 ENST00000333646 human ensembl 69_37n +1 known missense c.2137 p.P713S 0.162 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 267 0 0.00 246 127 33.96 - - - MRC1 0 genome.wustl.edu 37 10 18155491 18155491 + Missense_Mutation SNP G G A TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 10 18155491 18155491 G A SNP MRC1 ENST00000239761 human ensembl 69_37n +1 known missense c.1784 p.G595E 0.997 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,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,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1 HGNC ENSG00000120586 60 0 0.00 16 54 77.14 - - - MYO3A 0 genome.wustl.edu 37 10 26243889 26243889 + Silent SNP C C T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 10 26243889 26243889 C T SNP MYO3A ENST00000265944 human ensembl 69_37n +1 known silent c.255 p.Y85 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_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 230 0 0.00 204 34 14.29 - - - NPFFR2 0 genome.wustl.edu 37 4 72897694 72897694 + Missense_Mutation SNP G G C TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 4 72897694 72897694 G C SNP NPFFR2 ENST00000308744 human ensembl 69_37n +1 known missense c.76 p.E26Q 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 65 0 0.00 53 19 26.39 - - - NPTX2 0 genome.wustl.edu 37 7 98254285 98254285 + Missense_Mutation SNP G G A TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 7 98254285 98254285 G A SNP NPTX2 ENST00000265634 human ensembl 69_37n +1 known missense c.695 p.R232H 1.000 superfamily_ConA-like_lec_gl,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 15 0 0.00 11 9 45.00 - - - NSMCE4A 0 genome.wustl.edu 37 10 123719061 123719062 + Frame_Shift_Del DEL TT TT - TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 10 123719061 123719062 TT - DEL NSMCE4A ENST00000369023 human ensembl 69_37n -1 known frame_shift_del c.1038_1037 p.Q346fs 0.220:0.489 pfam_Nse4 pfam_Nse4 - no_errors NSMCE4A HGNC ENSG00000107672 567 0 0.00 329 119 25.43 - - - OR2T3 0 genome.wustl.edu 37 1 248636826 248636826 + Missense_Mutation SNP C C T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 1 248636826 248636826 C T SNP OR2T3 ENST00000359594 human ensembl 69_37n +1 known missense c.175 p.R59C 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2T3 HGNC ENSG00000196539 367 1 0.27 393 99 20.12 - - - PDS5B 0 genome.wustl.edu 37 13 33344430 33344430 + Missense_Mutation SNP G G C TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 13 33344430 33344430 G C SNP PDS5B ENST00000315596 human ensembl 69_37n +1 known missense c.3796 p.E1266Q 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 145 0 0.00 64 26 28.89 - - - PGK1 0 genome.wustl.edu 37 X 77378339 77378339 + Missense_Mutation SNP G G T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e X 77378339 77378339 G T SNP PGK1 ENST00000373316 human ensembl 69_37n +1 known missense c.649 p.V217F 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK1 HGNC ENSG00000102144 375 0 0.00 310 50 13.89 - - - PKD1L1 0 genome.wustl.edu 37 7 47872771 47872771 + Missense_Mutation SNP G G C TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 7 47872771 47872771 G C SNP PKD1L1 ENST00000289672 human ensembl 69_37n -1 known missense c.6254 p.A2085G 0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 32 0 0.00 24 63 72.41 - - - PKD1L1 0 genome.wustl.edu 37 7 47872839 47872841 + In_Frame_Del DEL TGA TGA - TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 TGA TGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 7 47872839 47872841 TGA - DEL PKD1L1 ENST00000289672 human ensembl 69_37n -1 known in_frame_del c.6186_6184 p.S2062in_frame_del 0.002:0.002:0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 64 0 0.00 36 21 36.84 - - - PKD1L1 0 genome.wustl.edu 37 7 47872848 47872849 + Frame_Shift_Ins INS - - C TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 7 47872848 47872849 - C INS PKD1L1 ENST00000289672 human ensembl 69_37n -1 known frame_shift_ins c.6177_6176 p.P2060fs 0.000:0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 62 0 0.00 33 21 38.89 - - - PRDX5 0 genome.wustl.edu 37 11 64089058 64089059 + Frame_Shift_Del DEL GT GT - TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 11 64089058 64089059 GT - DEL PRDX5 ENST00000265462 human ensembl 69_37n +1 known frame_shift_del c.540_541 p.R180fs 1.000:1.000 pfam_Redoxin,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold pfam_Redoxin,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold - no_errors PRDX5 HGNC ENSG00000126432 23 0 0.00 34 21 37.50 - - - PTGER3 0 genome.wustl.edu 37 1 71512366 71512366 + Missense_Mutation SNP G G C TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 1 71512366 71512366 G C SNP PTGER3 ENST00000354608 human ensembl 69_37n -1 known missense c.895 p.L299V 0.881 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_supfam,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 24 0 0.00 10 8 44.44 - - - PTPRN2 0 genome.wustl.edu 37 7 157874006 157874007 + Frame_Shift_Ins INS - - G TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 7 157874006 157874007 - G INS PTPRN2 ENST00000404321 human ensembl 69_37n -1 known frame_shift_ins c.1776_1775 p.V593fs 0.010:0.084 pfam_Receptor_IA-2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 78 0 0.00 104 43 29.25 - - - RB1 0 genome.wustl.edu 37 13 49050933 49050933 + Missense_Mutation SNP A A G TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 13 49050933 49050933 A G SNP RB1 ENST00000267163 human ensembl 69_37n +1 known missense c.2617 p.K873E 1.000 pfam_Rb_C pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 192 0 0.00 76 36 32.14 - - - RELN 0 genome.wustl.edu 37 7 103276003 103276003 + Missense_Mutation SNP G G T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 7 103276003 103276003 G T SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.2334 p.S778R 1.000 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 124 0 0.00 70 47 40.17 - - - SI 0 genome.wustl.edu 37 3 164781250 164781250 + Frame_Shift_Del DEL A A - TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 3 164781250 164781250 A - DEL SI ENST00000264382 human ensembl 69_37n -1 known frame_shift_del c.887 p.L296fs 1.000 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 41 0 0.00 14 3 17.65 - - - SLC35F3 0 genome.wustl.edu 37 1 234452419 234452419 + Silent SNP C C T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 1 234452419 234452419 C T SNP SLC35F3 ENST00000366618 human ensembl 69_37n +1 known silent c.900 p.S300 0.001 pfam_DUF914_euk pfam_DMT,pfam_DUF250,pfam_DUF914_euk - no_errors SLC35F3 HGNC ENSG00000183780 98 0 0.00 121 76 38.58 - - - SYT4 0 genome.wustl.edu 37 18 40853841 40853841 + Missense_Mutation SNP C C T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 18 40853841 40853841 C T SNP SYT4 ENST00000255224 human ensembl 69_37n -1 known missense c.553 p.E185K 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 186 0 0.00 85 33 27.97 - - - TBC1D10A 0 genome.wustl.edu 37 22 30688471 30688471 + Frame_Shift_Del DEL A A - TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 22 30688471 30688471 A - DEL TBC1D10A ENST00000215790 human ensembl 69_37n -1 known frame_shift_del c.1420 p.S474fs 0.155 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC ENSG00000099992 12 0 0.00 3 2 40.00 - - - TM9SF1 0 genome.wustl.edu 37 14 24664018 24664018 + Missense_Mutation SNP C C T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 14 24664018 24664018 C T SNP TM9SF1 ENST00000556387 human ensembl 69_37n -1 known missense c.835 p.E279K 1.000 pfam_EMP70 pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC ENSG00000100926 109 0 0.00 87 31 26.27 - - - ZNF76 0 genome.wustl.edu 37 6 35262385 35262386 + Frame_Shift_Ins INS - - T TCGA-B6-A0IG-01A-11W-A050-09 TCGA-B6-A0IG-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e8046519-d928-4fd3-b3e2-84585aa4f022 aa1686ba-bc50-4b76-9a59-9971c176876e 6 35262385 35262386 - T INS ZNF76 ENST00000498555 human ensembl 69_37n +1 putative frame_shift_ins c.245_246 p.Q82fs 0.000:0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF76 HGNC ENSG00000065029 73 0 0.00 49 11 18.33 - - -