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 AGRP 0 genome.wustl.edu 37 16 67517232 67517233 + Frame_Shift_Ins INS - - T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 16 67517232 67517233 - T INS AGRP ENST00000290953 human ensembl 69_37n -1 known frame_shift_ins c.70_69 p.G23fs 0.003:0.003 pfam_Agouti,smart_Agouti pfam_Agouti,superfamily_Agouti,smart_Agouti,pfscan_Agouti - no_errors AGRP HGNC ENSG00000159723 16 0 0.00 13 7 35.00 - - - AJAP1 0 genome.wustl.edu 37 1 4772340 4772340 + Missense_Mutation SNP C C T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 1 4772340 4772340 C T SNP AJAP1 ENST00000378190 human ensembl 69_37n +1 known missense c.410 p.S137L 0.005 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 9 0 0.00 1 4 80.00 - - - ALDOB 0 genome.wustl.edu 37 9 104184143 104184143 + Missense_Mutation SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 9 104184143 104184143 G A SNP ALDOB ENST00000374855 human ensembl 69_37n -1 known missense c.1043 p.S348F 0.538 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOB HGNC ENSG00000136872 191 0 0.00 297 83 21.84 - - - ARR3 0 genome.wustl.edu 37 X 69501557 69501557 + Missense_Mutation SNP C C T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 X 69501557 69501557 C T SNP ARR3 ENST00000307959 human ensembl 69_37n +1 known missense c.1108 p.R370W 0.002 superfamily_Ig_E-set,prints_Arrestin pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARR3 HGNC ENSG00000120500 243 0 0.00 359 97 21.27 - - - BCAS1 0 genome.wustl.edu 37 20 52644991 52644991 + Missense_Mutation SNP T T G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 20 52644991 52644991 T G SNP BCAS1 ENST00000371440 human ensembl 69_37n -1 known missense c.663 p.Q221H 0.000 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 288 0 0.00 362 79 17.91 - - - C15orf39 0 genome.wustl.edu 37 15 75503112 75503113 + Frame_Shift_Ins INS - - T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 15 75503112 75503113 - T INS C15orf39 ENST00000360639 human ensembl 69_37n +1 known frame_shift_ins c.2799_2800 p.A933fs 0.003:0.002 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 110 0 0.00 24 10 29.41 - - - C15orf39 0 genome.wustl.edu 37 15 75503113 75503114 + Frame_Shift_Ins INS - - C TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 15 75503113 75503114 - C INS C15orf39 ENST00000360639 human ensembl 69_37n +1 known frame_shift_ins c.2800_2801 p.V935fs 0.002:0.004 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 106 0 0.00 24 10 29.41 - - - CD4 0 genome.wustl.edu 37 12 6926435 6926435 + Silent SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 12 6926435 6926435 G A SNP CD4 ENST00000011653 human ensembl 69_37n +1 known silent c.1095 p.A365 0.001 pfam_Ig_C2-set,prints_Ag_CD4 pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 204 0 0.00 688 445 39.17 - - - CNTNAP5 0 genome.wustl.edu 37 2 125555732 125555732 + Missense_Mutation SNP C C T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 2 125555732 125555732 C T SNP CNTNAP5 ENST00000431078 human ensembl 69_37n +1 known missense c.3049 p.P1017S 0.210 superfamily_ConA-like_lec_gl,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 463 0 0.00 233 51 17.96 - - - COL11A1 0 genome.wustl.edu 37 1 103474022 103474022 + Silent SNP A A C TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 1 103474022 103474022 A C SNP COL11A1 ENST00000358392 human ensembl 69_37n -1 known silent c.1716 p.P572 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 113 0 0.00 111 33 22.76 - - - DAP 0 genome.wustl.edu 37 5 10681194 10681195 + In_Frame_Ins INS - - CTC TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 5 10681194 10681195 - CTC INS DAP ENST00000230895 human ensembl 69_37n -1 known in_frame_ins c.283_282 p.94in_frame_insE 0.997:0.801 NULL NULL - no_errors DAP HGNC ENSG00000112977 222 0 0.00 103 43 29.45 - - - DCC 0 genome.wustl.edu 37 18 50731687 50731687 + Missense_Mutation SNP C C A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 18 50731687 50731687 C A SNP DCC ENST00000442544 human ensembl 69_37n +1 known missense c.1675 p.Q559K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 347 1 0.29 236 53 18.34 - - - DCHS1 0 genome.wustl.edu 37 11 6662141 6662142 + Frame_Shift_Ins INS - - G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 11 6662141 6662142 - G INS DCHS1 ENST00000299441 human ensembl 69_37n -1 known frame_shift_ins c.704_703 p.R235fs 0.999:0.606 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 70 0 0.00 43 7 14.00 - - - DIDO1 0 genome.wustl.edu 37 20 61537437 61537438 + Frame_Shift_Ins INS - - T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 20 61537437 61537438 - T INS DIDO1 ENST00000266070 human ensembl 69_37n -1 known frame_shift_ins c.1390_1389 p.S463fs 0.995:0.993 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 84 0 0.00 136 185 57.63 - - - DNM1P46 0 genome.wustl.edu 37 15 100340123 100340125 + RNA DEL AGA AGA - TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 15 100340123 100340125 AGA - DEL DNM1P46 ENST00000341853 human ensembl 69_37n -1 known rna NULL NULL 0.899:0.883:0.880 - - - no_errors DNM1P46 HGNC ENSG00000182397 8 0 0.00 3 3 50.00 - - - DOCK11 0 genome.wustl.edu 37 X 117742260 117742260 + Missense_Mutation SNP A A G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 X 117742260 117742260 A G SNP DOCK11 ENST00000276202 human ensembl 69_37n +1 known missense c.2818 p.T940A 0.197 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 134 0 0.00 206 50 19.53 - - - ENPP1 0 genome.wustl.edu 37 6 132201019 132201019 + Splice_Site SNP G G C TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 6 132201019 132201019 G C SNP ENPP1 ENST00000360971 human ensembl 69_37n +1 known splice_site c.1946-1 e20-1 1.000 - - - no_errors ENPP1 HGNC ENSG00000197594 164 0 0.00 137 352 71.84 - - - FAM47B 0 genome.wustl.edu 37 X 34962204 34962204 + Missense_Mutation SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 X 34962204 34962204 G A SNP FAM47B ENST00000329357 human ensembl 69_37n +1 known missense c.1256 p.R419Q 0.001 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 146 0 0.00 155 37 19.27 - - - FBXO21 0 genome.wustl.edu 37 12 117624363 117624363 + Nonsense_Mutation SNP C C T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 12 117624363 117624363 C T SNP FBXO21 ENST00000550180 human ensembl 69_37n -1 novel nonsense c.219 p.W73* 1.000 NULL pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,tigrfam_Hemimethylated_DNA-bd_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FBXO21 HGNC ENSG00000135108 289 0 0.00 104 42 28.77 - - - FCGBP 0 genome.wustl.edu 37 19 40370213 40370213 + Silent SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 19 40370213 40370213 G A SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known silent c.12453 p.D4151 0.059 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 12 0 0.00 16 11 40.74 - - - FMNL3 0 genome.wustl.edu 37 12 50050614 50050614 + Missense_Mutation SNP C C G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 12 50050614 50050614 C G SNP FMNL3 ENST00000293590 human ensembl 69_37n -1 known missense c.783 p.K261N 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL3 HGNC ENSG00000161791 506 0 0.00 352 192 35.29 - - - GIMAP1 0 genome.wustl.edu 37 7 150417637 150417637 + Missense_Mutation SNP G G T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 7 150417637 150417637 G T SNP GIMAP1 ENST00000307194 human ensembl 69_37n +1 known missense c.545 p.G182V 0.000 pfam_AIG1 pfam_AIG1 - no_errors GIMAP1 HGNC ENSG00000213203 42 0 0.00 41 11 20.75 - - - GPC4 0 genome.wustl.edu 37 X 132458221 132458221 + Silent SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 X 132458221 132458221 G A SNP GPC4 ENST00000370828 human ensembl 69_37n -1 known silent c.663 p.F221 0.999 pfam_Glypican pfam_Glypican - no_errors GPC4 HGNC ENSG00000076716 133 0 0.00 218 28 11.38 - - - GRIK5 0 genome.wustl.edu 37 19 42558011 42558011 + Missense_Mutation SNP C C T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 19 42558011 42558011 C T SNP GRIK5 ENST00000301218 human ensembl 69_37n -1 known missense c.1127 p.R376H 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 157 0 0.00 90 14 13.46 - - - GRIN2C 0 genome.wustl.edu 37 17 72848644 72848644 + Missense_Mutation SNP G G C TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 17 72848644 72848644 G C SNP GRIN2C ENST00000293190 human ensembl 69_37n -1 known missense c.506 p.T169S 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 10 0 0.00 0 10 100.00 - - - HECTD4 0 genome.wustl.edu 37 12 112600859 112600860 + Frame_Shift_Ins INS - - G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 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 38 0 0.00 13 4 23.53 - - - HEXDC 0 genome.wustl.edu 37 17 80400297 80400298 + Frame_Shift_Ins INS - - G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 17 80400297 80400298 - G INS HEXDC ENST00000337014 human ensembl 69_37n +1 known frame_shift_ins c.1587_1588 p.A531fs 0.001:0.000 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 15 0 0.00 4 2 33.33 - - - HEXIM2 0 genome.wustl.edu 37 17 43246972 43246972 + Frame_Shift_Del DEL G G - TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 17 43246972 43246972 G - DEL HEXIM2 ENST00000307275 human ensembl 69_37n +1 known frame_shift_del c.657 p.E219fs 0.998 NULL NULL - no_errors HEXIM2 HGNC ENSG00000168517 9 0 0.00 7 12 63.16 - - - HFE2 0 genome.wustl.edu 37 1 145415808 145415808 + Silent SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 1 145415808 145415808 G A SNP HFE2 ENST00000336751 human ensembl 69_37n +1 known silent c.627 p.A209 0.002 pfam_RGM_N pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 71 0 0.00 37 11 22.92 - - - IRS4 0 genome.wustl.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 X 107977802 107977803 - C INS IRS4 ENST00000372129 human ensembl 69_37n -1 known frame_shift_ins c.1773_1772 p.K592fs 0.031:0.016 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 269 0 0.00 117 18 13.33 - - - JPH4 0 genome.wustl.edu 37 14 24040435 24040436 + Frame_Shift_Ins INS - - C TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 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 21 0 0.00 101 15 12.93 - - - KAT8 0 genome.wustl.edu 37 16 31131549 31131549 + Missense_Mutation SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 16 31131549 31131549 G A SNP KAT8 ENST00000448516 human ensembl 69_37n +1 known missense c.254 p.G85D 1.000 pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 219 0 0.00 127 17 11.81 - - - KCNB1 0 genome.wustl.edu 37 20 47990079 47990079 + Missense_Mutation SNP T T C TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 20 47990079 47990079 T C SNP KCNB1 ENST00000371741 human ensembl 69_37n -1 known missense c.2018 p.K673R 1.000 pfam_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 58 0 0.00 59 17 22.37 - - - KCND1 0 genome.wustl.edu 37 X 48826431 48826431 + Missense_Mutation SNP A A C TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 X 48826431 48826431 A C SNP KCND1 ENST00000218176 human ensembl 69_37n -1 known missense c.248 p.F83C 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND1 HGNC ENSG00000102057 42 0 0.00 23 5 17.86 - - - KDM3B 0 genome.wustl.edu 37 5 137721990 137721990 + Missense_Mutation SNP A A T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 5 137721990 137721990 A T SNP KDM3B ENST00000314358 human ensembl 69_37n +1 known missense c.1060 p.I354F 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 222 0 0.00 203 32 13.62 - - - KIAA0913 0 genome.wustl.edu 37 10 75560463 75560464 + Frame_Shift_Ins INS - - C TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 10 75560463 75560464 - C INS KIAA0913 ENST00000398706 human ensembl 69_37n +1 known frame_shift_ins c.5092_5093 p.Y1701fs 1.000:1.000 NULL pfscan_Znf_SWIM - no_errors KIAA0913 HGNC ENSG00000214655 345 0 0.00 143 16 10.06 - - - KIAA1609 0 genome.wustl.edu 37 16 84514302 84514303 + Frame_Shift_Ins INS - - C TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 16 84514302 84514303 - C INS KIAA1609 ENST00000343629 human ensembl 69_37n -1 known frame_shift_ins c.1090_1089 p.Q363fs 1.000:0.148 pfam_TLDc,smart_TLDc pfam_TLDc,smart_TLDc - no_errors KIAA1609 HGNC ENSG00000140950 74 0 0.00 36 5 12.20 - - - KIR2DL4 0 genome.wustl.edu 37 19 55325455 55325455 + Silent SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 19 55325455 55325455 G A SNP KIR2DL4 ENST00000396284 human ensembl 69_37n +1 known silent c.1083 p.L361 0.001 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL4 HGNC ENSG00000189013 21 0 0.00 40 22 35.48 - - - KPRP 0 genome.wustl.edu 37 1 152733639 152733639 + Silent SNP C C G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 1 152733639 152733639 C G SNP KPRP ENST00000368773 human ensembl 69_37n +1 known silent c.1575 p.T525 0.015 NULL NULL - no_errors KPRP HGNC ENSG00000203786 101 0 0.00 66 48 42.11 - - - LRP1 0 genome.wustl.edu 37 12 57603939 57603940 + Frame_Shift_Ins INS - - C TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 12 57603939 57603940 - C INS LRP1 ENST00000243077 human ensembl 69_37n +1 known frame_shift_ins c.12567_12568 p.D4192fs 0.037:0.113 superfamily_Growth_fac_rcpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 61 0 0.00 36 5 12.20 - - - LRP1B 0 genome.wustl.edu 37 2 141762944 141762944 + Silent SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 2 141762944 141762944 G A SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known silent c.2463 p.A821 0.814 smart_EGF-like pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 143 0 0.00 112 18 13.74 - - - LRRC41 0 genome.wustl.edu 37 1 46744688 46744688 + Missense_Mutation SNP G G T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 1 46744688 46744688 G T SNP LRRC41 ENST00000343304 human ensembl 69_37n -1 known missense c.2288 p.A763D 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 49 0 0.00 56 9 13.85 - - - MAP3K13 0 genome.wustl.edu 37 3 185146578 185146578 + Missense_Mutation SNP C C T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 3 185146578 185146578 C T SNP MAP3K13 ENST00000265026 human ensembl 69_37n +1 known missense c.209 p.T70M 0.998 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K13 HGNC ENSG00000073803 165 0 0.00 86 48 35.82 - - - MLL2 0 genome.wustl.edu 37 12 49427612 49427612 + Missense_Mutation SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 12 49427612 49427612 G A SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known missense c.10876 p.R3626W 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 17 0 0.00 15 6 28.57 - - - MRPL24 0 genome.wustl.edu 37 1 156708444 156708445 + Frame_Shift_Ins INS - - G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 1 156708444 156708445 - G INS MRPL24 ENST00000361531 human ensembl 69_37n -1 known frame_shift_ins c.53_52 p.H18fs 0.438:0.034 NULL pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L24 - no_errors MRPL24 HGNC ENSG00000143314 39 0 0.00 41 5 10.87 - - - MTHFD1 0 genome.wustl.edu 37 14 64879189 64879189 + Splice_Site SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 14 64879189 64879189 G A SNP MTHFD1 ENST00000216605 human ensembl 69_37n +1 known splice_site c.355-1 e4-1 1.000 - - - no_errors MTHFD1 HGNC ENSG00000100714 530 0 0.00 267 46 14.65 - - - MYO7A 0 genome.wustl.edu 37 11 76924905 76924905 + Missense_Mutation SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 11 76924905 76924905 G A SNP MYO7A ENST00000409709 human ensembl 69_37n +1 known missense c.6439 p.D2147N 1.000 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 169 0 0.00 57 22 27.85 - - - NDST3 0 genome.wustl.edu 37 4 119176789 119176789 + Silent SNP G G T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 4 119176789 119176789 G T SNP NDST3 ENST00000296499 human ensembl 69_37n +1 known silent c.2544 p.V848 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST3 HGNC ENSG00000164100 139 0 0.00 79 23 22.55 - - - NKTR 0 genome.wustl.edu 37 3 42679035 42679036 + Frame_Shift_Ins INS - - C TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 3 42679035 42679036 - C INS NKTR ENST00000232978 human ensembl 69_37n +1 known frame_shift_ins c.1839_1840 p.S616fs 0.992:1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 82 0 0.00 49 6 10.91 - - - NOBOX 0 genome.wustl.edu 37 7 144098495 144098496 + Frame_Shift_Ins INS - - G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 7 144098495 144098496 - G INS NOBOX ENST00000467773 human ensembl 69_37n -1 known frame_shift_ins c.488_487 p.R163fs 0.116:0.001 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors NOBOX HGNC ENSG00000106410 47 0 0.00 24 6 20.00 - - - OXCT2 0 genome.wustl.edu 37 1 40236329 40236330 + In_Frame_Ins INS - - CCA TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 1 40236329 40236330 - CCA INS OXCT2 ENST00000327582 human ensembl 69_37n -1 known in_frame_ins c.599_598 p.200in_frame_insV 0.978:0.997 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT2 HGNC ENSG00000198754 27 0 0.00 14 4 22.22 - - - PAPD7 0 genome.wustl.edu 37 5 6739853 6739853 + Missense_Mutation SNP A A G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 5 6739853 6739853 A G SNP PAPD7 ENST00000230859 human ensembl 69_37n +1 known missense c.146 p.D49G 1.000 pfam_Nucleotidyltransferase pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 59 0 0.00 45 9 16.67 - - - PCDH9 0 genome.wustl.edu 37 13 67801018 67801018 + Nonsense_Mutation SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 13 67801018 67801018 G A SNP PCDH9 ENST00000377865 human ensembl 69_37n -1 known nonsense c.1555 p.R519* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 177 1 0.56 67 16 19.28 - - - PCDHB10 0 genome.wustl.edu 37 5 140573649 140573649 + Silent SNP G G T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 5 140573649 140573649 G T SNP PCDHB10 ENST00000239446 human ensembl 69_37n +1 known silent c.1524 p.A508 0.743 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 86 0 0.00 33 19 35.85 - - - PIK3CA 0 genome.wustl.edu 37 3 178937498 178937498 + Missense_Mutation SNP C C G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 3 178937498 178937498 C G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1886 p.S629C 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 119 0 0.00 99 106 51.71 - - - PNMA2 0 genome.wustl.edu 37 8 26365956 26365956 + Silent SNP A A G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 8 26365956 26365956 A G SNP PNMA2 ENST00000522362 human ensembl 69_37n -1 known silent c.316 p.L106 0.999 NULL pfam_Retrotrans_gag - no_errors PNMA2 HGNC ENSG00000240694 158 0 0.00 56 13 18.84 - - - POLR2B 0 genome.wustl.edu 37 4 57852532 57852532 + Missense_Mutation SNP A A T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 4 57852532 57852532 A T SNP POLR2B ENST00000314595 human ensembl 69_37n +1 known missense c.32 p.D11V 1.000 NULL pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 271 0 0.00 114 22 16.18 - - - PUS1 0 genome.wustl.edu 37 12 132426023 132426023 + Missense_Mutation SNP A A G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 12 132426023 132426023 A G SNP PUS1 ENST00000376649 human ensembl 69_37n +1 known missense c.731 p.N244S 1.000 pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS1 HGNC ENSG00000177192 110 0 0.00 19 8 29.63 - - - RCN1 0 genome.wustl.edu 37 11 32125021 32125021 + Missense_Mutation SNP A A T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 11 32125021 32125021 A T SNP RCN1 ENST00000054950 human ensembl 69_37n +1 known missense c.883 p.N295Y 0.986 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors RCN1 HGNC ENSG00000049449 121 0 0.00 108 22 16.92 - - - RNF20 0 genome.wustl.edu 37 9 104314674 104314674 + Missense_Mutation SNP C C T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 9 104314674 104314674 C T SNP RNF20 ENST00000389120 human ensembl 69_37n +1 known missense c.1540 p.R514C 0.997 NULL superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 155 0 0.00 131 41 23.70 - - - RPL13A 0 genome.wustl.edu 37 19 49993509 49993509 + Missense_Mutation SNP C C G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 19 49993509 49993509 C G SNP RPL13A ENST00000391857 human ensembl 69_37n +1 known missense c.109 p.R37G 0.998 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc - no_errors RPL13A HGNC ENSG00000142541 67 0 0.00 69 25 26.60 - - - SCN4A 0 genome.wustl.edu 37 17 62034540 62034541 + In_Frame_Ins INS - - TTG TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 17 62034540 62034541 - TTG INS SCN4A ENST00000435607 human ensembl 69_37n -1 known in_frame_ins c.2358_2357 p.M786in_frame_insIK 1.000:1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN4A HGNC ENSG00000007314 98 0 0.00 42 5 10.64 - - - SETDB1 0 genome.wustl.edu 37 1 150935080 150935080 + Missense_Mutation SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 1 150935080 150935080 G A SNP SETDB1 ENST00000271640 human ensembl 69_37n +1 known missense c.3176 p.R1059Q 0.961 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 171 0 0.00 481 88 15.38 - - - SIGLEC5 0 genome.wustl.edu 37 19 52133292 52133292 + Missense_Mutation SNP A A G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 19 52133292 52133292 A G SNP SIGLEC5 ENST00000429354 human ensembl 69_37n -1 known missense c.215 p.V72A 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC5 HGNC ENSG00000105501 25 0 0.00 28 5 15.15 - - - SPATA20 0 genome.wustl.edu 37 17 48626803 48626805 + In_Frame_Del DEL GAG GAG - TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 17 48626803 48626805 GAG - DEL SPATA20 ENST00000006658 human ensembl 69_37n +1 known in_frame_del c.817_819 p.E274in_frame_del 1.000:1.000:1.000 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 9 0 0.00 18 11 37.93 - - - SUSD5 0 genome.wustl.edu 37 3 33249409 33249409 + Missense_Mutation SNP C C T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 3 33249409 33249409 C T SNP SUSD5 ENST00000412539 human ensembl 69_37n -1 novel missense c.296 p.C99Y 0.998 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link - pseudogene:no_stop_codon SUSD5 HGNC ENSG00000173705 326 0 0.00 285 188 39.75 - - - TEX15 0 genome.wustl.edu 37 8 30695197 30695197 + Frame_Shift_Del DEL G G - TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 8 30695197 30695197 G - DEL TEX15 ENST00000256246 human ensembl 69_37n -1 known frame_shift_del c.7454 p.P2485fs 0.002 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 59 0 0.00 25 15 37.50 - - - TFE3 0 genome.wustl.edu 37 X 48887951 48887952 + Frame_Shift_Ins INS - - C TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 X 48887951 48887952 - C INS TFE3 ENST00000315869 human ensembl 69_37n -1 known frame_shift_ins c.1446_1445 p.P483fs 0.035:0.037 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TFE3 HGNC ENSG00000068323 93 0 0.00 189 25 11.68 - - - TMEM132B 0 genome.wustl.edu 37 12 125834766 125834766 + Missense_Mutation SNP C C A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 12 125834766 125834766 C A SNP TMEM132B ENST00000299308 human ensembl 69_37n +1 known missense c.821 p.S274Y 0.993 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 153 0 0.00 144 36 20.00 - - - TMEM175 0 genome.wustl.edu 37 4 947133 947133 + Silent SNP T T C TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 4 947133 947133 T C SNP TMEM175 ENST00000264771 human ensembl 69_37n +1 known silent c.618 p.F206 1.000 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 178 0 0.00 42 25 37.31 - - - TNPO3 0 genome.wustl.edu 37 7 128610253 128610253 + Silent SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 7 128610253 128610253 G A SNP TNPO3 ENST00000393245 human ensembl 69_37n -1 known silent c.2649 p.T883 0.991 NULL pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 114 0 0.00 48 45 48.39 - - - TRAPPC10 0 genome.wustl.edu 37 21 45502669 45502669 + Missense_Mutation SNP G G A TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 21 45502669 45502669 G A SNP TRAPPC10 ENST00000291574 human ensembl 69_37n +1 known missense c.1724 p.G575D 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 151 0 0.00 63 20 24.10 - - - UGGT2 0 genome.wustl.edu 37 13 96665616 96665616 + Frame_Shift_Del DEL A A - TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 13 96665616 96665616 A - DEL UGGT2 ENST00000376747 human ensembl 69_37n -1 known frame_shift_del c.605 p.L202fs 1.000 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 262 0 0.00 183 49 20.94 - - - UPF2 0 genome.wustl.edu 37 10 11978707 11978707 + Missense_Mutation SNP C C T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 10 11978707 11978707 C T SNP UPF2 ENST00000356352 human ensembl 69_37n -1 known missense c.3383 p.R1128Q 1.000 pfam_Up-fram_suppressor-2 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 119 0 0.00 242 42 14.79 - - - UROC1 0 genome.wustl.edu 37 3 126202222 126202223 + Frame_Shift_Ins INS - - C TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 3 126202222 126202223 - C INS UROC1 ENST00000290868 human ensembl 69_37n -1 known frame_shift_ins c.1880_1879 p.V627fs 1.000:1.000 pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 37 0 0.00 18 17 48.57 - - - WNT5B 0 genome.wustl.edu 37 12 1755114 1755116 + In_Frame_Del DEL GCA GCA - TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 12 1755114 1755116 GCA - DEL WNT5B ENST00000310594 human ensembl 69_37n +1 known in_frame_del c.776_778 p.RK259in_frame_delQ 0.998:0.585:0.084 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC ENSG00000111186 14 0 0.00 7 5 41.67 - - - ZBTB4 0 genome.wustl.edu 37 17 7370109 7370110 + Frame_Shift_Ins INS - - G TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 17 7370109 7370110 - G INS ZBTB4 ENST00000311403 human ensembl 69_37n -1 known frame_shift_ins c.12_11 p.A5fs 0.997:1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 31 0 0.00 17 5 22.73 - - - ZNF292 0 genome.wustl.edu 37 6 87965899 87965899 + Missense_Mutation SNP C C T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 6 87965899 87965899 C T SNP ZNF292 ENST00000369577 human ensembl 69_37n +1 known missense c.2552 p.S851F 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 93 0 0.00 106 12 10.17 - - - ZNF791 0 genome.wustl.edu 37 19 12739846 12739846 + Silent SNP C C T TCGA-AN-A04C-01A-21W-A050-09 TCGA-AN-A04C-10A-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c1302f79-cc50-487a-9db5-016df85e67d7 e0036635-4a4e-485d-8e5d-810964be64a2 19 12739846 12739846 C T SNP ZNF791 ENST00000343325 human ensembl 69_37n +1 known silent c.1503 p.C501 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF791 HGNC ENSG00000173875 171 0 0.00 72 9 11.11 - - -