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 ACY3 0 genome.wustl.edu 37 11 67414330 67414331 + Frame_Shift_Ins INS - - G TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 11 67414330 67414331 - G INS ACY3 ENST00000255082 human ensembl 69_37n -1 known frame_shift_ins c.185_184 p.R62fs 0.864:0.864 pfam_Aste_AspA,pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ACY3 HGNC ENSG00000132744 17 0 0.00 5 2 28.57 - - - ADAM10 0 genome.wustl.edu 37 15 58974428 58974428 + Missense_Mutation SNP C C G TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 15 58974428 58974428 C G SNP ADAM10 ENST00000260408 human ensembl 69_37n -1 known missense c.292 p.D98H 1.000 pfam_Peptidase_M12B_N pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM10 HGNC ENSG00000137845 122 0 0.00 53 6 10.17 - - - AMN1 0 genome.wustl.edu 37 12 31862280 31862280 + Silent SNP G G A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 12 31862280 31862280 G A SNP AMN1 ENST00000281471 human ensembl 69_37n -1 known silent c.118 p.L40 0.983 NULL smart_Leu-rich_rpt_Cys-con_subtyp - no_errors AMN1 HGNC ENSG00000151743 345 0 0.00 273 37 11.90 - - - ARHGAP17 0 genome.wustl.edu 37 16 24971256 24971256 + Silent SNP C C G TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 16 24971256 24971256 C G SNP ARHGAP17 ENST00000289968 human ensembl 69_37n -1 known silent c.618 p.G206 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 349 2 0.57 163 59 26.58 - - - ATP2B3 0 genome.wustl.edu 37 X 152822475 152822475 + Silent SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d X 152822475 152822475 C T SNP ATP2B3 ENST00000263519 human ensembl 69_37n +1 known silent c.2427 p.F809 0.601 pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,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 77 0 0.00 13 7 35.00 - - - BAI2 0 genome.wustl.edu 37 1 32208507 32208508 + Frame_Shift_Ins INS - - G TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 1 32208507 32208508 - G INS BAI2 ENST00000373658 human ensembl 69_37n -1 known frame_shift_ins c.1184_1183 p.Q395fs 1.000:1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 25 0 0.00 5 3 37.50 - - - CACNA1G 0 genome.wustl.edu 37 17 48646555 48646555 + Silent SNP T T C TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 17 48646555 48646555 T C SNP CACNA1G ENST00000359106 human ensembl 69_37n +1 known silent c.384 p.F128 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 401 0 0.00 224 47 17.28 - - - CCDC127 0 genome.wustl.edu 37 5 216868 216868 + Missense_Mutation SNP G G T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 5 216868 216868 G T SNP CCDC127 ENST00000296824 human ensembl 69_37n -1 known missense c.97 p.P33T 1.000 NULL NULL - no_errors CCDC127 HGNC ENSG00000164366 80 0 0.00 22 3 12.00 - - - CCDC136 0 genome.wustl.edu 37 7 128446752 128446752 + Missense_Mutation SNP G G A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 7 128446752 128446752 G A SNP CCDC136 ENST00000297788 human ensembl 69_37n +1 known missense c.1259 p.C420Y 0.798 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 22 0 0.00 36 12 24.49 - - - CCL11 0 genome.wustl.edu 37 17 32614626 32614626 + Missense_Mutation SNP G G A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 17 32614626 32614626 G A SNP CCL11 ENST00000305869 human ensembl 69_37n +1 known missense c.211 p.D71N 0.001 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL11 HGNC ENSG00000172156 156 1 0.64 101 17 14.41 - - - CD3G 0 genome.wustl.edu 37 11 118221279 118221279 + Missense_Mutation SNP G G A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 11 118221279 118221279 G A SNP CD3G ENST00000532917 human ensembl 69_37n +1 known missense c.320 p.C107Y 1.000 NULL pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3G HGNC ENSG00000160654 254 0 0.00 155 20 11.43 - - - CNTNAP4 0 genome.wustl.edu 37 16 76350228 76350228 + Missense_Mutation SNP T T C TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 16 76350228 76350228 T C SNP CNTNAP4 ENST00000476707 human ensembl 69_37n +1 putative missense c.13 p.Y5H 0.000 NULL 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 CNTNAP4 HGNC ENSG00000152910 69 0 0.00 18 19 51.35 - - - COL14A1 0 genome.wustl.edu 37 8 121209087 121209087 + Nonsense_Mutation SNP G G A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 8 121209087 121209087 G A SNP COL14A1 ENST00000523142 human ensembl 69_37n +1 putative nonsense c.48 p.W16* 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A - no_start_codon:pseudogene:no_stop_codon COL14A1 HGNC ENSG00000187955 132 1 0.75 89 27 23.08 - - - CTCF 0 genome.wustl.edu 37 16 67645507 67645507 + Missense_Mutation SNP A A G TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 16 67645507 67645507 A G SNP CTCF ENST00000264010 human ensembl 69_37n +1 known missense c.772 p.K258E 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 92 0 0.00 26 20 43.48 - - - DNAH3 0 genome.wustl.edu 37 16 21145740 21145740 + Missense_Mutation SNP G G A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 16 21145740 21145740 G A SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known missense c.922 p.R308W 0.923 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 135 1 0.74 106 57 34.97 - - - DNMT1 0 genome.wustl.edu 37 19 10290875 10290875 + Frame_Shift_Del DEL T T - TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 19 10290875 10290875 T - DEL DNMT1 ENST00000359526 human ensembl 69_37n -1 known frame_shift_del c.481 p.T161fs 0.022 pirsf_DNA_C5-MeTrfase_1_euk pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 8 0 0.00 10 33 76.74 - - - DNMT1 0 genome.wustl.edu 37 19 10290878 10290879 + Frame_Shift_Ins INS - - T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 19 10290878 10290879 - T INS DNMT1 ENST00000359526 human ensembl 69_37n -1 known frame_shift_ins c.478_477 p.V159fs 0.010:0.007 pirsf_DNA_C5-MeTrfase_1_euk pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 10 0 0.00 9 34 79.07 - - - DTX2 0 genome.wustl.edu 37 7 76121509 76121509 + Missense_Mutation SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 7 76121509 76121509 C T SNP DTX2 ENST00000435251 human ensembl 69_37n +1 known missense c.40 p.R14C 0.015 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DTX2 Clone_based_vega_gene ENSG00000091073 12 0 0.00 19 10 33.33 - - - ENTPD6 0 genome.wustl.edu 37 20 25196322 25196322 + Missense_Mutation SNP G G A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 20 25196322 25196322 G A SNP ENTPD6 ENST00000433417 human ensembl 69_37n +1 known missense c.446 p.R149H 0.027 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ENTPD6 HGNC ENSG00000197586 82 0 0.00 27 15 35.71 - - - EPHA3 0 genome.wustl.edu 37 3 89391074 89391074 + Silent SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 3 89391074 89391074 C T SNP EPHA3 ENST00000336596 human ensembl 69_37n +1 known silent c.1140 p.V380 0.709 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA3 HGNC ENSG00000044524 139 0 0.00 84 25 22.94 - - - EPO 0 genome.wustl.edu 37 7 100320315 100320316 + Frame_Shift_Ins INS - - G TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 7 100320315 100320316 - G INS EPO ENST00000252723 human ensembl 69_37n +1 known frame_shift_ins c.275_276 p.L94fs 1.000:1.000 pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,pirsf_Erythroptn,prints_Erythroptn pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,pirsf_Erythroptn,prints_Erythroptn - no_errors EPO HGNC ENSG00000130427 42 0 0.00 29 5 14.71 - - - FAM71E2 0 genome.wustl.edu 37 19 55870662 55870662 + Frame_Shift_Del DEL G G - TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 19 55870662 55870662 G - DEL FAM71E2 ENST00000424985 human ensembl 69_37n -1 novel frame_shift_del c.1574 p.P525fs 0.001 NULL pfam_DUF3699 - no_errors FAM71E2 HGNC ENSG00000180043 33 0 0.00 6 2 25.00 - - - FGFR4 0 genome.wustl.edu 37 5 176524359 176524359 + Frame_Shift_Del DEL G G - TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 5 176524359 176524359 G - DEL FGFR4 ENST00000292408 human ensembl 69_37n +1 known frame_shift_del c.2220 p.E741fs 0.999 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,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FGFR4 HGNC ENSG00000160867 71 0 0.00 15 2 11.76 - - - GAS7 0 genome.wustl.edu 37 17 9837520 9837520 + Missense_Mutation SNP G G A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 17 9837520 9837520 G A SNP GAS7 ENST00000432992 human ensembl 69_37n -1 known missense c.848 p.A283V 0.798 pfam_FCH,smart_FCH,pfscan_FCH pfam_FCH,pfam_WW_Rsp5_WWP,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_SH3_domain,smart_WW_Rsp5_WWP,smart_FCH,pfscan_FCH,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP - no_errors GAS7 HGNC ENSG00000007237 210 0 0.00 78 37 31.90 - - - GPR155 0 genome.wustl.edu 37 2 175335282 175335282 + Missense_Mutation SNP G G C TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 2 175335282 175335282 G C SNP GPR155 ENST00000295500 human ensembl 69_37n -1 known missense c.862 p.L288V 1.000 pfam_Auxin_eff pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 78 0 0.00 41 7 14.58 - - - HDAC4 0 genome.wustl.edu 37 2 240011772 240011772 + Missense_Mutation SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 2 240011772 240011772 C T SNP HDAC4 ENST00000345617 human ensembl 69_37n -1 known missense c.2306 p.G769E 0.998 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 35 0 0.00 50 32 39.02 - - - HMHA1 0 genome.wustl.edu 37 19 1081038 1081039 + Frame_Shift_Ins INS - - CGGC TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 19 1081038 1081039 - CGGC INS HMHA1 ENST00000313093 human ensembl 69_37n +1 known frame_shift_ins c.2165_2166 p.F723fs 1.000:1.000 smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 12 0 0.00 3 5 62.50 - - - IGHV1-18 0 genome.wustl.edu 37 14 106641745 106641745 + Silent SNP G G T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 14 106641745 106641745 G T SNP IGHV1-18 ENST00000390605 human ensembl 69_37n -1 known silent c.169 p.R57 0.897 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV1-18 HGNC ENSG00000211945 192 1 0.52 134 73 35.10 - - - IRS1 0 genome.wustl.edu 37 2 227661200 227661200 + Frame_Shift_Del DEL C C - TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 2 227661200 227661200 C - DEL IRS1 ENST00000305123 human ensembl 69_37n -1 known frame_shift_del c.2255 p.G752fs 0.406 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 34 0 0.00 8 2 20.00 - - - KCNA3 0 genome.wustl.edu 37 1 111216103 111216104 + Frame_Shift_Ins INS - - AA TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 1 111216103 111216104 - AA INS KCNA3 ENST00000369769 human ensembl 69_37n -1 known frame_shift_ins c.1329_1328 p.T444fs 0.746:1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl 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_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 81 0 0.00 24 14 36.84 - - - KLHL22 0 genome.wustl.edu 37 22 20800742 20800742 + Missense_Mutation SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 22 20800742 20800742 C T SNP KLHL22 ENST00000429594 human ensembl 69_37n -1 known missense c.166 p.G56R 0.875 NULL pfam_Kelch_1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KLHL22 HGNC ENSG00000099910 189 1 0.53 89 167 64.98 - - - KRI1 0 genome.wustl.edu 37 19 10670359 10670359 + Missense_Mutation SNP G G A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 19 10670359 10670359 G A SNP KRI1 ENST00000312962 human ensembl 69_37n -1 known missense c.971 p.A324V 0.039 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 156 1 0.64 52 156 74.29 - - - KRTAP4-3 0 genome.wustl.edu 37 17 39324182 39324182 + Silent SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 17 39324182 39324182 C T SNP KRTAP4-3 ENST00000391356 human ensembl 69_37n -1 known silent c.243 p.R81 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-3 HGNC ENSG00000196156 123 0 0.00 48 10 17.24 - - - KRTAP4-3 0 genome.wustl.edu 37 17 39324272 39324272 + Silent SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 17 39324272 39324272 C T SNP KRTAP4-3 ENST00000391356 human ensembl 69_37n -1 known silent c.153 p.R51 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-3 HGNC ENSG00000196156 134 0 0.00 75 11 12.50 - - - LPGAT1 0 genome.wustl.edu 37 1 211956599 211956600 + Frame_Shift_Ins INS - - CT TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 1 211956599 211956600 - CT INS LPGAT1 ENST00000366996 human ensembl 69_37n -1 known frame_shift_ins c.699_698 p.S233fs 1.000:1.000 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors LPGAT1 HGNC ENSG00000123684 90 0 0.00 52 59 53.15 - - - MAN1A2 0 genome.wustl.edu 37 1 117910860 117910860 + Silent SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 1 117910860 117910860 C T SNP MAN1A2 ENST00000356554 human ensembl 69_37n +1 known silent c.55 p.L19 1.000 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A2 HGNC ENSG00000198162 68 0 0.00 57 33 36.67 - - - MAP1A 0 genome.wustl.edu 37 15 43820168 43820168 + Nonsense_Mutation SNP C C A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 15 43820168 43820168 C A SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known nonsense c.6497 p.S2166* 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 67 0 0.00 16 6 27.27 - - - MPHOSPH10 0 genome.wustl.edu 37 2 71360269 71360269 + Missense_Mutation SNP G G A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 2 71360269 71360269 G A SNP MPHOSPH10 ENST00000244230 human ensembl 69_37n +1 known missense c.331 p.E111K 0.206 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 113 0 0.00 66 8 10.81 - - - MTMR7 0 genome.wustl.edu 37 8 17188758 17188758 + Missense_Mutation SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 8 17188758 17188758 C T SNP MTMR7 ENST00000180173 human ensembl 69_37n -1 known missense c.766 p.G256S 1.000 pfam_Myotub-related pfam_Myotub-related,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR7 HGNC ENSG00000003987 170 0 0.00 68 52 43.33 - - - MYH13 0 genome.wustl.edu 37 17 10233721 10233721 + Silent SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 17 10233721 10233721 C T SNP MYH13 ENST00000252172 human ensembl 69_37n -1 known silent c.2418 p.K806 1.000 pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH13 HGNC ENSG00000006788 136 0 0.00 121 21 14.79 - - - NACC1 0 genome.wustl.edu 37 19 13246395 13246395 + Frame_Shift_Del DEL C C - TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 19 13246395 13246395 C - DEL NACC1 ENST00000292431 human ensembl 69_37n +1 known frame_shift_del c.374 p.P126fs 1.000 NULL pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC1 HGNC ENSG00000160877 27 0 0.00 4 2 33.33 - - - NHS 0 genome.wustl.edu 37 X 17744061 17744061 + Missense_Mutation SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d X 17744061 17744061 C T SNP NHS ENST00000380060 human ensembl 69_37n +1 known missense c.1772 p.T591M 0.998 NULL NULL - no_errors NHS HGNC ENSG00000188158 125 0 0.00 54 18 25.00 - - - NINL 0 genome.wustl.edu 37 20 25477324 25477324 + Missense_Mutation SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 20 25477324 25477324 C T SNP NINL ENST00000278886 human ensembl 69_37n -1 known missense c.1285 p.E429K 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 93 0 0.00 25 11 30.56 - - - ODZ2 0 genome.wustl.edu 37 5 167631625 167631625 + Nonsense_Mutation SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 5 167631625 167631625 C T SNP ODZ2 ENST00000518659 human ensembl 69_37n +1 known nonsense c.3823 p.R1275* 1.000 superfamily_ConA-like_lec_gl pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ2 HGNC ENSG00000145934 117 0 0.00 72 31 30.10 - - - PCOLCE 0 genome.wustl.edu 37 7 100202789 100202790 + Frame_Shift_Ins INS - - C TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 7 100202789 100202790 - C INS PCOLCE ENST00000223061 human ensembl 69_37n +1 known frame_shift_ins c.539_540 p.G184fs 1.000:1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain - no_errors PCOLCE HGNC ENSG00000106333 80 0 0.00 13 2 13.33 - - - PCSK5 0 genome.wustl.edu 37 9 78790207 78790207 + Silent SNP C C A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 9 78790207 78790207 C A SNP PCSK5 ENST00000376767 human ensembl 69_37n +1 known silent c.2062 p.R688 0.000 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 16 0 0.00 8 7 46.67 - - - PIGO 0 genome.wustl.edu 37 9 35091522 35091523 + Frame_Shift_Ins INS - - G TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 9 35091522 35091523 - G INS PIGO ENST00000341666 human ensembl 69_37n -1 known frame_shift_ins c.2362_2361 p.T787fs 0.637:0.393 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 72 0 0.00 40 5 11.11 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 124 0 0.00 92 20 17.86 - - - PIWIL1 0 genome.wustl.edu 37 12 130856048 130856048 + Missense_Mutation SNP C C G TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 12 130856048 130856048 C G SNP PIWIL1 ENST00000245255 human ensembl 69_37n +1 known missense c.2491 p.P831A 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 615 0 0.00 208 24 10.30 - - - PKN1 0 genome.wustl.edu 37 19 14574911 14574911 + Silent SNP G G A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 19 14574911 14574911 G A SNP PKN1 ENST00000342216 human ensembl 69_37n +1 known silent c.1695 p.S565 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN1 HGNC ENSG00000123143 46 0 0.00 25 13 34.21 - - - PPL 0 genome.wustl.edu 37 16 4935600 4935600 + Frame_Shift_Del DEL G G - TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 16 4935600 4935600 G - DEL PPL ENST00000345988 human ensembl 69_37n -1 known frame_shift_del c.3056 p.A1019fs 0.703 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 31 0 0.00 8 4 33.33 - - - PPL 0 genome.wustl.edu 37 16 4935601 4935602 + Frame_Shift_Ins INS - - TT TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 16 4935601 4935602 - TT INS PPL ENST00000345988 human ensembl 69_37n -1 known frame_shift_ins c.3055_3054 p.A1018fs 0.989:0.989 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 31 0 0.00 8 4 33.33 - - - PROX2 0 genome.wustl.edu 37 14 75321979 75321979 + Silent SNP G G A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 14 75321979 75321979 G A SNP PROX2 ENST00000445876 human ensembl 69_37n -1 known silent c.1635 p.A545 1.000 pfam_Prox1,superfamily_Homeodomain-like pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX2 HGNC ENSG00000119608 72 0 0.00 61 23 27.38 - - - SAT1 0 genome.wustl.edu 37 X 23801965 23801965 + Missense_Mutation SNP T T C TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d X 23801965 23801965 T C SNP SAT1 ENST00000379270 human ensembl 69_37n +1 known missense c.167 p.V56A 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors SAT1 HGNC ENSG00000130066 139 1 0.71 61 60 49.59 - - - SDR9C7 0 genome.wustl.edu 37 12 57323336 57323336 + Missense_Mutation SNP G G A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 12 57323336 57323336 G A SNP SDR9C7 ENST00000293502 human ensembl 69_37n -1 known missense c.562 p.R188C 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR9C7 HGNC ENSG00000170426 140 1 0.71 81 36 30.77 - - - SLC22A11 0 genome.wustl.edu 37 11 64323714 64323715 + Frame_Shift_Ins INS - - C TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 11 64323714 64323715 - C INS SLC22A11 ENST00000301891 human ensembl 69_37n +1 known frame_shift_ins c.243_244 p.H82fs 0.011:0.110 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A11 HGNC ENSG00000168065 52 0 0.00 5 4 44.44 - - - SLC25A31 0 genome.wustl.edu 37 4 128665852 128665852 + Silent SNP T T C TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 4 128665852 128665852 T C SNP SLC25A31 ENST00000281154 human ensembl 69_37n +1 known silent c.258 p.N86 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,prints_Aden_trnslctor,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A31 HGNC ENSG00000151475 237 0 0.00 202 28 12.17 - - - SLC27A3 0 genome.wustl.edu 37 1 153747748 153747748 + Frame_Shift_Del DEL C C - TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 1 153747748 153747748 C - DEL SLC27A3 ENST00000271857 human ensembl 69_37n +1 novel frame_shift_del c.159 p.W54fs 0.808 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 8 0 0.00 7 4 36.36 - - - SNX8 0 genome.wustl.edu 37 7 2297060 2297062 + In_Frame_Del DEL GCT GCT - TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 7 2297060 2297062 GCT - DEL SNX8 ENST00000222990 human ensembl 69_37n -1 known in_frame_del c.1074_1072 p.S358in_frame_del 0.983:1.000:1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 25 0 0.00 3 4 57.14 - - - SVEP1 0 genome.wustl.edu 37 9 113169977 113169977 + Nonsense_Mutation SNP C C A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 9 113169977 113169977 C A SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known nonsense c.7903 p.E2635* 0.075 NULL pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 40 0 0.00 42 6 12.50 - - - TBC1D10C 0 genome.wustl.edu 37 11 67174406 67174406 + Frame_Shift_Del DEL C C - TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 11 67174406 67174406 C - DEL TBC1D10C ENST00000312390 human ensembl 69_37n +1 known frame_shift_del c.757 p.E254fs 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10C HGNC ENSG00000175463 45 0 0.00 8 2 20.00 - - - TBC1D12 0 genome.wustl.edu 37 10 96291202 96291203 + Frame_Shift_Ins INS - - A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 10 96291202 96291203 - A INS TBC1D12 ENST00000225235 human ensembl 69_37n +1 known frame_shift_ins c.2244_2245 p.W750fs 1.000:1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D12 HGNC ENSG00000108239 27 0 0.00 18 2 10.00 - - - TBX3 0 genome.wustl.edu 37 12 115115457 115115458 + Frame_Shift_Ins INS - - T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 12 115115457 115115458 - T INS TBX3 ENST00000257566 human ensembl 69_37n -1 known frame_shift_ins c.869_868 p.T290fs 1.000:1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 229 1 0.43 80 40 33.33 - - - TIRAP 0 genome.wustl.edu 37 11 126162498 126162498 + Missense_Mutation SNP C C T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 11 126162498 126162498 C T SNP TIRAP ENST00000392678 human ensembl 69_37n +1 known missense c.194 p.T65M 0.000 pirsf_Tol-interleuk_rcpt_adapt_Tirap pfam_TIR_dom,superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Tirap,pfscan_TIR_dom - no_errors TIRAP HGNC ENSG00000150455 175 0 0.00 60 72 54.55 - - - TRPV6 0 genome.wustl.edu 37 7 142575020 142575020 + Missense_Mutation SNP A A C TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 7 142575020 142575020 A C SNP TRPV6 ENST00000359396 human ensembl 69_37n -1 known missense c.362 p.L121R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 162 0 0.00 60 26 29.89 - - - TUB 0 genome.wustl.edu 37 11 8118904 8118905 + Frame_Shift_Del DEL AA AA - TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 11 8118904 8118905 AA - DEL TUB ENST00000305253 human ensembl 69_37n +1 known frame_shift_del c.982_983 p.K328fs 1.000:1.000 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 98 0 0.00 59 53 47.32 - - - TXLNG 0 genome.wustl.edu 37 X 16838307 16838307 + Missense_Mutation SNP A A T TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d X 16838307 16838307 A T SNP TXLNG ENST00000380122 human ensembl 69_37n +1 known missense c.427 p.M143L 1.000 pfam_Taxilin pfam_Taxilin - no_errors TXLNG HGNC ENSG00000086712 99 0 0.00 81 36 30.77 - - - VNN1 0 genome.wustl.edu 37 6 133004427 133004427 + Missense_Mutation SNP G G A TCGA-AN-A0FS-01A-11W-A050-09 TCGA-AN-A0FS-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bb76d20-cefb-4f7a-80c2-aa2178e302a9 608d90c1-f205-43fa-a9cd-dcdf54bb927d 6 133004427 133004427 G A SNP VNN1 ENST00000367928 human ensembl 69_37n -1 known missense c.1394 p.P465L 0.713 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN1 HGNC ENSG00000112299 244 2 0.81 173 66 27.62 - - -