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 ABCC6 0 genome.wustl.edu 37 16 16276377 16276377 + Silent SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 16 16276377 16276377 G A SNP ABCC6 ENST00000205557 human ensembl 69_37n -1 known silent c.2139 p.F713 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 104 0 0.00 93 53 36.30 - - - ACTL7B 0 genome.wustl.edu 37 9 111617204 111617205 + Frame_Shift_Ins INS - - C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 9 111617204 111617205 - C INS ACTL7B ENST00000374667 human ensembl 69_37n -1 known frame_shift_ins c.1007_1006 p.A336fs 0.906:0.990 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7B HGNC ENSG00000148156 17 0 0.00 4 2 33.33 - - - ADCY9 0 genome.wustl.edu 37 16 4033256 4033257 + Frame_Shift_Ins INS - - T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 16 4033256 4033257 - T INS ADCY9 ENST00000294016 human ensembl 69_37n -1 known frame_shift_ins c.2496_2495 p.L833fs 1.000:0.998 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 33 0 0.00 20 5 20.00 - - - ADSL 0 genome.wustl.edu 37 22 40742592 40742593 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 22 40742592 40742593 - G INS ADSL ENST00000454266 human ensembl 69_37n +1 known frame_shift_ins c.30_31 p.D10fs 0.003:0.842 NULL pfam_Lyase1_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,prints_D_crystallin,tigrfam_Pur_lyase - no_errors ADSL HGNC ENSG00000239900 30 0 0.00 31 23 42.59 - - - AGK 0 genome.wustl.edu 37 7 141311049 141311049 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 7 141311049 141311049 G A SNP AGK ENST00000355413 human ensembl 69_37n +1 known missense c.352 p.V118M 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors AGK HGNC ENSG00000006530 467 0 0.00 342 46 11.79 - - - AKAP13 0 genome.wustl.edu 37 15 86122519 86122519 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 15 86122519 86122519 G A SNP AKAP13 ENST00000361243 human ensembl 69_37n +1 known missense c.1220 p.C407Y 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 98 0 0.00 51 14 21.54 - - - AKAP4 0 genome.wustl.edu 37 X 49957911 49957911 + Missense_Mutation SNP C C A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a X 49957911 49957911 C A SNP AKAP4 ENST00000358526 human ensembl 69_37n -1 known missense c.1453 p.D485Y 0.049 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 195 0 0.00 104 53 33.76 - - - ALDH2 0 genome.wustl.edu 37 12 112229881 112229882 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 12 112229881 112229882 - G INS ALDH2 ENST00000261733 human ensembl 69_37n +1 known frame_shift_ins c.812_813 p.V272fs 1.000:0.988 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 51 0 0.00 16 2 11.11 - - - ALKBH7 0 genome.wustl.edu 37 19 6373002 6373002 + Frame_Shift_Del DEL C C - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 19 6373002 6373002 C - DEL ALKBH7 ENST00000245812 human ensembl 69_37n +1 known frame_shift_del c.171 p.R58fs 0.999 NULL NULL - no_errors ALKBH7 HGNC ENSG00000125652 18 0 0.00 5 10 66.67 - - - ALOX5 0 genome.wustl.edu 37 10 45941043 45941044 + Frame_Shift_Ins INS - - C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 10 45941043 45941044 - C INS ALOX5 ENST00000374391 human ensembl 69_37n +1 known frame_shift_ins c.1933_1934 p.I645fs 0.999:1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2 - no_errors ALOX5 HGNC ENSG00000012779 57 0 0.00 31 14 31.11 - - - AQP4 0 genome.wustl.edu 37 18 24436200 24436200 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 18 24436200 24436200 G A SNP AQP4 ENST00000383168 human ensembl 69_37n -1 known missense c.947 p.S316F 0.957 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_Aquaporin - no_errors AQP4 HGNC ENSG00000171885 191 0 0.00 85 54 38.85 - - - ARHGAP4 0 genome.wustl.edu 37 X 153173249 153173250 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a X 153173249 153173250 - G INS ARHGAP4 ENST00000350060 human ensembl 69_37n -1 known frame_shift_ins c.2775_2774 p.G926fs 0.000:0.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP4 HGNC ENSG00000089820 43 0 0.00 26 6 18.75 - - - ARID1B 0 genome.wustl.edu 37 6 157099194 157099195 + Frame_Shift_Del DEL CA CA - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 6 157099194 157099195 CA - DEL ARID1B ENST00000367148 human ensembl 69_37n +1 known frame_shift_del c.131_132 p.A44fs 0.995:0.994 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 24 0 0.00 6 2 25.00 - - - ASXL2 0 genome.wustl.edu 37 2 25967150 25967150 + Missense_Mutation SNP C C G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 2 25967150 25967150 C G SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known missense c.2056 p.V686L 0.977 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 64 0 0.00 37 6 13.95 - - - ATP1A4 0 genome.wustl.edu 37 1 160141540 160141540 + Missense_Mutation SNP G G T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 160141540 160141540 G T SNP ATP1A4 ENST00000368081 human ensembl 69_37n +1 known missense c.1847 p.G616V 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC ENSG00000132681 95 0 0.00 83 11 11.70 - - - ATP2B1 0 genome.wustl.edu 37 12 89996873 89996873 + Missense_Mutation SNP T T C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 12 89996873 89996873 T C SNP ATP2B1 ENST00000261173 human ensembl 69_37n -1 known missense c.3007 p.I1003V 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA 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 ATP2B1 HGNC ENSG00000070961 240 0 0.00 101 73 41.71 - - - ATP5C1 0 genome.wustl.edu 37 10 7839114 7839114 + Missense_Mutation SNP G G T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 10 7839114 7839114 G T SNP ATP5C1 ENST00000356708 human ensembl 69_37n +1 known missense c.196 p.A66S 1.000 pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,tigrfam_ATPase_F1-cplx_gsu pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu - no_errors ATP5C1 HGNC ENSG00000165629 135 0 0.00 67 41 37.96 - - - C1QTNF3 0 genome.wustl.edu 37 5 34035771 34035772 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 5 34035771 34035772 - G INS C1QTNF3 ENST00000382065 human ensembl 69_37n -1 known frame_shift_ins c.396_395 p.P135fs 0.014:0.888 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF3 HGNC ENSG00000082196 99 0 0.00 77 13 14.44 - - - C1orf101 0 genome.wustl.edu 37 1 244624705 244624706 + RNA INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 244624705 244624706 - G INS C1orf101 ENST00000460986 human ensembl 69_37n +1 known rna NULL NULL 0.003:0.004 - - - no_errors C1orf101 HGNC ENSG00000179397 34 0 0.00 21 5 19.23 - - - CACNA1B 0 genome.wustl.edu 37 9 140943756 140943756 + Silent SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 9 140943756 140943756 G A SNP CACNA1B ENST00000371355 human ensembl 69_37n +1 known silent c.3702 p.A1234 0.125 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 322 0 0.00 254 66 20.31 - - - CACNA1E 0 genome.wustl.edu 37 1 181693635 181693635 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 181693635 181693635 G A SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known missense c.2104 p.A702T 1.000 pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 184 0 0.00 69 52 42.98 - - - CAMKK1 0 genome.wustl.edu 37 17 3769233 3769233 + Frame_Shift_Del DEL G G - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 17 3769233 3769233 G - DEL CAMKK1 ENST00000381771 human ensembl 69_37n -1 known frame_shift_del c.1528 p.R510fs 0.976 NULL 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 - no_errors CAMKK1 HGNC ENSG00000004660 97 0 0.00 37 50 55.56 - - - CCDC79 0 genome.wustl.edu 37 16 66820029 66820029 + Silent SNP T T G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 16 66820029 66820029 T G SNP CCDC79 ENST00000433154 human ensembl 69_37n -1 known silent c.465 p.T155 1.000 superfamily_ARM-type_fold pfam_SANT/Myb,superfamily_ARM-type_fold,superfamily_Homeodomain-like,superfamily_Cytokine_IL1-like,smart_SANT/Myb - no_errors CCDC79 HGNC ENSG00000249961 108 0 0.00 68 14 17.07 - - - CDC25C 0 genome.wustl.edu 37 5 137621470 137621470 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 5 137621470 137621470 G A SNP CDC25C ENST00000514017 human ensembl 69_37n -1 novel missense c.737 p.A246V 0.997 superfamily_Rhodanese-like_dom,prints_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_start_codon:pseudogene:no_stop_codon CDC25C HGNC ENSG00000158402 80 0 0.00 98 22 18.33 - - - CELSR1 0 genome.wustl.edu 37 22 46806305 46806305 + Frame_Shift_Del DEL G G - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 22 46806305 46806305 G - DEL CELSR1 ENST00000262738 human ensembl 69_37n -1 known frame_shift_del c.4923 p.T1642fs 1.000 superfamily_ConA-like_lec_gl,pfscan_Laminin_G pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 34 0 0.00 16 7 30.43 - - - CGN 0 genome.wustl.edu 37 1 151502028 151502029 + Frame_Shift_Ins INS - - T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 151502028 151502029 - T INS CGN ENST00000271636 human ensembl 69_37n +1 known frame_shift_ins c.2099_2100 p.S701fs 1.000:1.000 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 65 0 0.00 66 33 33.33 - - - CIC 0 genome.wustl.edu 37 19 42794462 42794462 + Silent SNP C C A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 19 42794462 42794462 C A SNP CIC ENST00000160740 human ensembl 69_37n +1 known silent c.1542 p.P514 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC ENSG00000079432 105 0 0.00 38 15 28.30 - - - CLPP 0 genome.wustl.edu 37 19 6368628 6368628 + Frame_Shift_Del DEL C C - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 19 6368628 6368628 C - DEL CLPP ENST00000245816 human ensembl 69_37n +1 known frame_shift_del c.741 p.P248fs 1.000 NULL pfam_ClpP/TepA,prints_ClpP - no_errors CLPP HGNC ENSG00000125656 38 0 0.00 29 15 34.09 - - - CNTLN 0 genome.wustl.edu 37 9 17236550 17236550 + Missense_Mutation SNP G G C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 9 17236550 17236550 G C SNP CNTLN ENST00000380647 human ensembl 69_37n +1 known missense c.813 p.L271F 1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 281 0 0.00 81 149 64.78 - - - COLQ 0 genome.wustl.edu 37 3 15540055 15540055 + Missense_Mutation SNP T T C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 3 15540055 15540055 T C SNP COLQ ENST00000383781 human ensembl 69_37n -1 known missense c.40 p.I14V 0.025 NULL pfam_Collagen,tigrfam_Myxo_disulph_rpt - no_errors COLQ HGNC ENSG00000206561 120 0 0.00 113 22 16.06 - - - CSPP1 0 genome.wustl.edu 37 8 67986496 67986496 + Silent SNP T T C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 8 67986496 67986496 T C SNP CSPP1 ENST00000262210 human ensembl 69_37n +1 known silent c.117 p.D39 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 145 0 0.00 105 24 18.46 - - - CWH43 0 genome.wustl.edu 37 4 49040079 49040079 + Missense_Mutation SNP C C G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 4 49040079 49040079 C G SNP CWH43 ENST00000226432 human ensembl 69_37n +1 known missense c.1685 p.A562G 1.000 superfamily_Endo/exonuclease/phosphatase superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 94 0 0.00 27 13 32.50 - - - DGKE 0 genome.wustl.edu 37 17 54912172 54912173 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 17 54912172 54912173 - G INS DGKE ENST00000284061 human ensembl 69_37n +1 known frame_shift_ins c.16_17 p.P7fs 0.464:0.463 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKE HGNC ENSG00000153933 36 0 0.00 11 2 15.38 - - - DHX32 0 genome.wustl.edu 37 10 127527584 127527584 + Missense_Mutation SNP C C G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 10 127527584 127527584 C G SNP DHX32 ENST00000284690 human ensembl 69_37n -1 known missense c.1867 p.G623R 0.999 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 92 0 0.00 57 18 23.38 - - - DNAJC9 0 genome.wustl.edu 37 10 75003261 75003261 + Missense_Mutation SNP C C G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 10 75003261 75003261 C G SNP DNAJC9 ENST00000372950 human ensembl 69_37n -1 known missense c.680 p.R227P 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors DNAJC9 HGNC ENSG00000213551 148 0 0.00 68 10 12.82 - - - DTX1 0 genome.wustl.edu 37 12 113496004 113496004 + Missense_Mutation SNP C C G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 12 113496004 113496004 C G SNP DTX1 ENST00000257600 human ensembl 69_37n +1 known missense c.7 p.R3G 0.993 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 24 0 0.00 3 5 62.50 - - - EFNB2 0 genome.wustl.edu 37 13 107187297 107187297 + Missense_Mutation SNP C C A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 13 107187297 107187297 C A SNP EFNB2 ENST00000245323 human ensembl 69_37n -1 known missense c.16 p.D6Y 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB2 HGNC ENSG00000125266 54 0 0.00 46 24 34.29 - - - EHMT1 0 genome.wustl.edu 37 9 140729314 140729315 + Frame_Shift_Ins INS - - A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 9 140729314 140729315 - A INS EHMT1 ENST00000460843 human ensembl 69_37n +1 known frame_shift_ins c.3806_3807 p.L1270fs 1.000:1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 15 0 0.00 3 3 50.00 - - - ERBB3 0 genome.wustl.edu 37 12 56486553 56486553 + Missense_Mutation SNP G G C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 12 56486553 56486553 G C SNP ERBB3 ENST00000267101 human ensembl 69_37n +1 known missense c.1132 p.A378P 0.993 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 70 0 0.00 18 37 67.27 - - - ESYT2 0 genome.wustl.edu 37 7 158529792 158529792 + Silent SNP T T G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 7 158529792 158529792 T G SNP ESYT2 ENST00000251527 human ensembl 69_37n -1 known silent c.2427 p.G809 0.995 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors ESYT2 HGNC ENSG00000117868 298 0 0.00 70 35 31.82 - - - FAM135A 0 genome.wustl.edu 37 6 71243517 71243517 + Nonsense_Mutation SNP C C T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 6 71243517 71243517 C T SNP FAM135A ENST00000418814 human ensembl 69_37n +1 known nonsense c.3925 p.Q1309* 1.000 pfam_DUF676_lipase-like,pfam_PGAP1-like pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 146 0 0.00 34 16 31.37 - - - FAM47C 0 genome.wustl.edu 37 X 37026498 37026498 + Silent SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a X 37026498 37026498 G A SNP FAM47C ENST00000358047 human ensembl 69_37n +1 known silent c.15 p.R5 0.005 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 83 0 0.00 37 8 17.78 - - - FAM82A1 0 genome.wustl.edu 37 2 38178420 38178420 + Missense_Mutation SNP A A G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 2 38178420 38178420 A G SNP FAM82A1 ENST00000234195 human ensembl 69_37n +1 known missense c.62 p.D21G 0.001 NULL NULL - no_errors FAM82A1 HGNC ENSG00000115841 147 0 0.00 101 12 10.62 - - - FAT3 0 genome.wustl.edu 37 11 92085295 92085296 + Frame_Shift_Ins INS - - A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 11 92085295 92085296 - A INS FAT3 ENST00000298047 human ensembl 69_37n +1 known frame_shift_ins c.17_18 p.H7fs 1.000:0.949 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 40 0 0.00 38 5 11.63 - - - FAT3 0 genome.wustl.edu 37 11 92085300 92085301 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 11 92085300 92085301 - G INS FAT3 ENST00000298047 human ensembl 69_37n +1 known frame_shift_ins c.22_23 p.C8fs 0.997:1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 43 0 0.00 40 5 11.11 - - - FBXO18 0 genome.wustl.edu 37 10 5948163 5948163 + Frame_Shift_Del DEL C C - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 10 5948163 5948163 C - DEL FBXO18 ENST00000379999 human ensembl 69_37n +1 known frame_shift_del c.474 p.S159fs 0.000 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO18 HGNC ENSG00000134452 66 0 0.00 15 2 11.11 - - - FIP1L1 0 genome.wustl.edu 37 4 54243929 54243930 + RNA INS - - C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 4 54243929 54243930 - C INS FIP1L1 ENST00000511376 human ensembl 69_37n +1 known rna NULL NULL 0.968:0.579 - - - no_errors FIP1L1 HGNC ENSG00000145216 89 0 0.00 14 2 12.50 - - - FLG2 0 genome.wustl.edu 37 1 152329344 152329344 + Silent SNP T T C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 152329344 152329344 T C SNP FLG2 ENST00000388718 human ensembl 69_37n -1 known silent c.918 p.Q306 0.067 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 73 0 0.00 38 34 46.58 - - - FLNC 0 genome.wustl.edu 37 7 128491563 128491563 + Frame_Shift_Del DEL A A - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 7 128491563 128491563 A - DEL FLNC ENST00000325888 human ensembl 69_37n +1 known frame_shift_del c.5723 p.D1908fs 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 67 0 0.00 32 13 28.26 - - - FLT4 0 genome.wustl.edu 37 5 180058766 180058766 + Frame_Shift_Del DEL C C - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 5 180058766 180058766 C - DEL FLT4 ENST00000261937 human ensembl 69_37n -1 known frame_shift_del c.71 p.G24fs 1.000 prints_Tyr_kinase_VEGFR3_rcpt_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 15 0 0.00 58 198 77.04 - - - FLT4 0 genome.wustl.edu 37 5 180058770 180058771 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 5 180058770 180058771 - G INS FLT4 ENST00000261937 human ensembl 69_37n -1 known frame_shift_ins c.67_66 p.S22fs 0.585:0.029 prints_Tyr_kinase_VEGFR3_rcpt_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 13 0 0.00 20 197 90.78 - - - FLT4 0 genome.wustl.edu 37 5 180058772 180058773 + Frame_Shift_Ins INS - - CT TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 5 180058772 180058773 - CT INS FLT4 ENST00000261937 human ensembl 69_37n -1 known frame_shift_ins c.65_64 p.V22fs 0.025:0.997 prints_Tyr_kinase_VEGFR3_rcpt_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 13 0 0.00 27 183 87.14 - - - FLT4 0 genome.wustl.edu 37 5 180058776 180058776 + Frame_Shift_Del DEL G G - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 5 180058776 180058776 G - DEL FLT4 ENST00000261937 human ensembl 69_37n -1 known frame_shift_del c.61 p.L21fs 1.000 prints_Tyr_kinase_VEGFR3_rcpt_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 14 0 0.00 15 190 91.35 - - - FNIP1 0 genome.wustl.edu 37 5 131039813 131039814 + Frame_Shift_Ins INS - - A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 5 131039813 131039814 - A INS FNIP1 ENST00000510461 human ensembl 69_37n -1 known frame_shift_ins c.1061_1060 p.S354fs 1.000:1.000 NULL NULL - no_errors FNIP1 HGNC ENSG00000217128 48 0 0.00 13 2 13.33 - - - FSHR 0 genome.wustl.edu 37 2 49191077 49191080 + Frame_Shift_Del DEL ATTT ATTT - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 ATTT ATTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 2 49191077 49191080 ATTT - DEL FSHR ENST00000406846 human ensembl 69_37n -1 known frame_shift_del c.883_880 p.K294fs 0.998:0.998:1.000:1.000 pfam_GnHR_TM,prints_FSH_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_supfam,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 190 0 0.00 154 119 40.75 - - - GIMAP7 0 genome.wustl.edu 37 7 150217085 150217085 + Missense_Mutation SNP C C A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 7 150217085 150217085 C A SNP GIMAP7 ENST00000313543 human ensembl 69_37n +1 known missense c.23 p.S8Y 0.001 NULL pfam_AIG1 - no_errors GIMAP7 HGNC ENSG00000179144 74 0 0.00 16 21 56.76 - - - GPNMB 0 genome.wustl.edu 37 7 23300153 23300153 + Missense_Mutation SNP C C T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 7 23300153 23300153 C T SNP GPNMB ENST00000381990 human ensembl 69_37n +1 known missense c.779 p.P260L 1.000 superfamily_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 167 0 0.00 116 58 33.33 - - - GRK6 0 genome.wustl.edu 37 5 176863238 176863238 + Frame_Shift_Del DEL T T - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 5 176863238 176863238 T - DEL GRK6 ENST00000528793 human ensembl 69_37n +1 known frame_shift_del c.1222 p.Y408fs 1.000 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom - no_errors GRK6 HGNC ENSG00000198055 69 0 0.00 44 171 75.66 - - - GSN 0 genome.wustl.edu 37 9 124062266 124062267 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 9 124062266 124062267 - G INS GSN ENST00000373818 human ensembl 69_37n +1 known frame_shift_ins c.127_128 p.V44fs 0.061:0.048 NULL pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin - no_errors GSN HGNC ENSG00000148180 57 0 0.00 17 4 19.05 - - - INHBB 0 genome.wustl.edu 37 2 121107231 121107232 + Frame_Shift_Ins INS - - T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 2 121107231 121107232 - T INS INHBB ENST00000295228 human ensembl 69_37n +1 known frame_shift_ins c.1005_1006 p.C335fs 1.000:1.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 24 0 0.00 9 8 47.06 - - - INPPL1 0 genome.wustl.edu 37 11 71939422 71939422 + Nonsense_Mutation SNP C C T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 11 71939422 71939422 C T SNP INPPL1 ENST00000298229 human ensembl 69_37n +1 known nonsense c.277 p.Q93* 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 99 0 0.00 51 15 22.73 - - - INSIG2 0 genome.wustl.edu 37 2 118864325 118864325 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 2 118864325 118864325 G A SNP INSIG2 ENST00000245787 human ensembl 69_37n +1 known missense c.382 p.D128N 1.000 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG2 HGNC ENSG00000125629 247 0 0.00 54 61 53.04 - - - ITPR1 0 genome.wustl.edu 37 3 4824339 4824340 + Frame_Shift_Del DEL GT GT - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 3 4824339 4824340 GT - DEL ITPR1 ENST00000302640 human ensembl 69_37n +1 known frame_shift_del c.6379_6380 p.V2127fs 1.000:0.999 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 233 0 0.00 209 215 50.23 - - - JUP 0 genome.wustl.edu 37 17 39777034 39777035 + Frame_Shift_Del DEL AG AG - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 17 39777034 39777035 AG - DEL JUP ENST00000540235 human ensembl 69_37n -1 known frame_shift_del c.1535_1534 p.L512fs 1.000:1.000 pfam_F,prints_Keratin_I pfam_F,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 48 0 0.00 52 48 45.71 - - - KIAA0947 0 genome.wustl.edu 37 5 5461242 5461243 + Frame_Shift_Del DEL AC AC - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 5 5461242 5461243 AC - DEL KIAA0947 ENST00000296564 human ensembl 69_37n +1 known frame_shift_del c.1795_1796 p.T599fs 0.000:0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 56 0 0.00 22 20 46.51 - - - KIAA1107 0 genome.wustl.edu 37 1 92642589 92642589 + Frame_Shift_Del DEL A A - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 92642589 92642589 A - DEL KIAA1107 ENST00000409154 human ensembl 69_37n +1 known frame_shift_del c.690 p.I232fs 0.992 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 70 0 0.00 40 12 23.08 - - - KIAA1549 0 genome.wustl.edu 37 7 138604164 138604164 + Missense_Mutation SNP G G C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 7 138604164 138604164 G C SNP KIAA1549 ENST00000422774 human ensembl 69_37n -1 known missense c.208 p.H70D 0.968 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 129 0 0.00 67 75 52.08 - - - KRIT1 0 genome.wustl.edu 37 7 91844024 91844024 + Missense_Mutation SNP T T A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 7 91844024 91844024 T A SNP KRIT1 ENST00000340022 human ensembl 69_37n -1 known missense c.1631 p.Y544F 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 133 0 0.00 50 17 25.37 - - - KRTAP2-2 0 genome.wustl.edu 37 17 39211310 39211310 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 17 39211310 39211310 G A SNP KRTAP2-2 ENST00000542910 human ensembl 69_37n -1 known missense c.154 p.R52C 0.981 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP2-2 HGNC ENSG00000214518 8 0 0.00 4 5 55.56 - - - LAMA5 0 genome.wustl.edu 37 20 60902623 60902624 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 20 60902623 60902624 - G INS LAMA5 ENST00000252999 human ensembl 69_37n -1 known frame_shift_ins c.4900_4899 p.T1633fs 1.000:1.000 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 15 0 0.00 2 2 50.00 - - - LCE1E 0 genome.wustl.edu 37 1 152759900 152759900 + Missense_Mutation SNP C C G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 152759900 152759900 C G SNP LCE1E ENST00000368770 human ensembl 69_37n +1 known missense c.125 p.S42C 0.998 NULL NULL - no_errors LCE1E HGNC ENSG00000186226 218 0 0.00 151 53 25.98 - - - LIF 0 genome.wustl.edu 37 22 30639798 30639798 + Missense_Mutation SNP C C T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 22 30639798 30639798 C T SNP LIF ENST00000249075 human ensembl 69_37n -1 known missense c.451 p.V151M 1.000 pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF - no_errors LIF HGNC ENSG00000128342 277 1 0.36 97 61 38.36 - - - LRRC36 0 genome.wustl.edu 37 16 67381482 67381482 + Missense_Mutation SNP A A T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 16 67381482 67381482 A T SNP LRRC36 ENST00000329956 human ensembl 69_37n +1 known missense c.476 p.E159V 1.000 NULL NULL - no_errors LRRC36 HGNC ENSG00000159708 135 0 0.00 79 31 27.93 - - - MAP2K3 0 genome.wustl.edu 37 17 21205521 21205521 + Missense_Mutation SNP G G T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 17 21205521 21205521 G T SNP MAP2K3 ENST00000342679 human ensembl 69_37n +1 known missense c.466 p.D156Y 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_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 - no_errors MAP2K3 HGNC ENSG00000034152 90 0 0.00 32 8 20.00 - - - MBLAC1 0 genome.wustl.edu 37 7 99725323 99725324 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 7 99725323 99725324 - G INS MBLAC1 ENST00000398075 human ensembl 69_37n +1 known frame_shift_ins c.305_306 p.A103fs 1.000:1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors MBLAC1 HGNC ENSG00000214309 24 0 0.00 7 2 22.22 - - - MPV17L 0 genome.wustl.edu 37 16 15501863 15501863 + Missense_Mutation SNP C C T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 16 15501863 15501863 C T SNP MPV17L ENST00000396385 human ensembl 69_37n +1 known missense c.485 p.T162I 1.000 pfam_Mpv17_PMP22 pfam_Mpv17_PMP22 - no_errors MPV17L HGNC ENSG00000156968 143 0 0.00 123 27 18.00 - - - MTM1 0 genome.wustl.edu 37 X 149814336 149814336 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a X 149814336 149814336 G A SNP MTM1 ENST00000370396 human ensembl 69_37n +1 known missense c.859 p.A287T 1.000 pfam_Myotub-related pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTM1 HGNC ENSG00000171100 150 1 0.66 98 12 10.81 - - - MUC2 0 genome.wustl.edu 37 11 1092499 1092499 + Missense_Mutation SNP C C T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 11 1092499 1092499 C T SNP MUC2 ENST00000441003 human ensembl 69_37n +1 known missense c.4318 p.P1440S 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 157 1 0.63 104 18 14.75 - - - MYOF 0 genome.wustl.edu 37 10 95169434 95169435 + Frame_Shift_Ins INS - - C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 10 95169434 95169435 - C INS MYOF ENST00000359263 human ensembl 69_37n -1 known frame_shift_ins c.496_495 p.P165fs 0.120:0.025 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors MYOF HGNC ENSG00000138119 131 0 0.00 39 8 17.02 - - - NBPF22P 0 genome.wustl.edu 37 5 85583607 85583607 + RNA SNP T T C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 5 85583607 85583607 T C SNP NBPF22P ENST00000590707 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors NBPF22P HGNC ENSG00000205449 299 0 0.00 94 25 21.01 - - - NCMAP 0 genome.wustl.edu 37 1 24921959 24921959 + Missense_Mutation SNP T T G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 24921959 24921959 T G SNP NCMAP ENST00000374392 human ensembl 69_37n +1 known missense c.38 p.F13C 1.000 NULL NULL - no_errors NCMAP HGNC ENSG00000184454 67 0 0.00 35 10 22.22 - - - NFASC 0 genome.wustl.edu 37 1 204971877 204971878 + Splice_Site DEL GT GT - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 204971877 204971878 GT - DEL NFASC ENST00000367172 human ensembl 69_37n +1 known splice_site_del c.3610+1_3610+1 e27+1 1.000:1.000 - - - no_errors NFASC HGNC ENSG00000163531 56 0 0.00 79 90 53.25 - - - NFE2L3 0 genome.wustl.edu 37 7 26224471 26224471 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 7 26224471 26224471 G A SNP NFE2L3 ENST00000056233 human ensembl 69_37n +1 known missense c.1153 p.D385N 0.991 NULL pfam_bZIP_1,pfam_bZIP_Maf,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 111 0 0.00 47 7 12.96 - - - NLGN4X 0 genome.wustl.edu 37 X 5811009 5811009 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a X 5811009 5811009 G A SNP NLGN4X ENST00000381093 human ensembl 69_37n -1 known missense c.2360 p.S787L 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 397 0 0.00 105 134 55.83 - - - NLRP4 0 genome.wustl.edu 37 19 56370309 56370309 + Missense_Mutation SNP C C T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 19 56370309 56370309 C T SNP NLRP4 ENST00000301295 human ensembl 69_37n +1 known missense c.1550 p.A517V 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 141 0 0.00 82 31 27.43 - - - NPC1L1 0 genome.wustl.edu 37 7 44578657 44578657 + Silent SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 7 44578657 44578657 G A SNP NPC1L1 ENST00000289547 human ensembl 69_37n -1 known silent c.1339 p.L447 1.000 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 90 0 0.00 46 6 11.32 - - - OR1J2 0 genome.wustl.edu 37 9 125273997 125273997 + Missense_Mutation SNP G G T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 9 125273997 125273997 G T SNP OR1J2 ENST00000335302 human ensembl 69_37n +1 known missense c.917 p.S306I 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1J2 HGNC ENSG00000197233 118 0 0.00 51 29 36.25 - - - OR2G2 0 genome.wustl.edu 37 1 247752246 247752246 + Silent SNP C C A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 247752246 247752246 C A SNP OR2G2 ENST00000320065 human ensembl 69_37n +1 known silent c.585 p.T195 0.004 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 285 0 0.00 237 103 30.21 - - - OTOF 0 genome.wustl.edu 37 2 26700694 26700695 + Frame_Shift_Del DEL AT AT - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 2 26700694 26700695 AT - DEL OTOF ENST00000402415 human ensembl 69_37n -1 known frame_shift_del c.68_67 p.I23fs 0.001:0.024 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors OTOF HGNC ENSG00000115155 16 0 0.00 8 4 33.33 - - - PAK4 0 genome.wustl.edu 37 19 39664407 39664408 + Frame_Shift_Ins INS - - C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 19 39664407 39664408 - C INS PAK4 ENST00000358301 human ensembl 69_37n +1 known frame_shift_ins c.855_856 p.G287fs 0.016:0.162 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK4 HGNC ENSG00000130669 10 0 0.00 4 2 33.33 - - - PCDH10 0 genome.wustl.edu 37 4 134071574 134071574 + Silent SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 4 134071574 134071574 G A SNP PCDH10 ENST00000264360 human ensembl 69_37n +1 known silent c.279 p.L93 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 53 0 0.00 24 4 14.29 - - - PCDHA9 0 genome.wustl.edu 37 5 140230065 140230065 + Missense_Mutation SNP C C T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 5 140230065 140230065 C T SNP PCDHA9 ENST00000532602 human ensembl 69_37n +1 known missense c.1985 p.T662M 1.000 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 PCDHA9 HGNC ENSG00000204961 54 0 0.00 25 7 21.21 - - - PCNT 0 genome.wustl.edu 37 21 47810717 47810717 + Missense_Mutation SNP G G C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 21 47810717 47810717 G C SNP PCNT ENST00000359568 human ensembl 69_37n +1 known missense c.3973 p.E1325Q 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 74 0 0.00 41 15 26.79 - - - PDXDC2P 0 genome.wustl.edu 37 16 70057541 70057541 + RNA SNP A A T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 16 70057541 70057541 A T SNP PDXDC2P ENST00000529089 human ensembl 69_37n -1 known rna NULL NULL 0.987 - - - no_errors PDXDC2P HGNC ENSG00000196696 251 0 0.00 160 35 17.95 - - - PHRF1 0 genome.wustl.edu 37 11 608125 608125 + Missense_Mutation SNP C C T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 11 608125 608125 C T SNP PHRF1 ENST00000264555 human ensembl 69_37n +1 known missense c.2669 p.T890I 0.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 10 0 0.00 1 4 80.00 - - - PIDD 0 genome.wustl.edu 37 11 803200 803201 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 11 803200 803201 - G INS PIDD ENST00000347755 human ensembl 69_37n -1 known frame_shift_ins c.683_682 p.R228fs 0.254:0.831 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Peptidase_S68_pidd,pfam_Death,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,smart_Death,pfscan_Death,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 20 0 0.00 5 2 28.57 - - - PIK3IP1 0 genome.wustl.edu 37 22 31685527 31685528 + Frame_Shift_Ins INS - - A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 22 31685527 31685528 - A INS PIK3IP1 ENST00000215912 human ensembl 69_37n -1 known frame_shift_ins c.466_465 p.V155fs 1.000:0.507 NULL pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle - no_errors PIK3IP1 HGNC ENSG00000100100 29 0 0.00 19 17 47.22 - - - PKD1L2 0 genome.wustl.edu 37 16 81183417 81183417 + Missense_Mutation SNP C C G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 16 81183417 81183417 C G SNP PKD1L2 ENST00000525539 human ensembl 69_37n -1 known missense c.4631 p.R1544P 0.998 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PKD1L2 HGNC ENSG00000166473 38 0 0.00 56 14 20.00 - - - PLEKHA4 0 genome.wustl.edu 37 19 49360695 49360696 + Frame_Shift_Ins INS - - C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 19 49360695 49360696 - C INS PLEKHA4 ENST00000263265 human ensembl 69_37n -1 known frame_shift_ins c.1031_1030 p.A344fs 1.000:1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 53 0 0.00 28 4 12.50 - - - PLXNA3 0 genome.wustl.edu 37 X 153693388 153693389 + Frame_Shift_Del DEL GA GA - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a X 153693388 153693389 GA - DEL PLXNA3 ENST00000369682 human ensembl 69_37n +1 known frame_shift_del c.2071_2072 p.D691fs 1.000:1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 25 0 0.00 15 8 33.33 - - - POLD1 0 genome.wustl.edu 37 19 50912445 50912445 + Frame_Shift_Del DEL G G - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 19 50912445 50912445 G - DEL POLD1 ENST00000440232 human ensembl 69_37n +1 known frame_shift_del c.1959 p.L655fs 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 87 0 0.00 19 25 56.82 - - - POLD1 0 genome.wustl.edu 37 19 50912454 50912455 + Frame_Shift_Del DEL GC GC - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 19 50912454 50912455 GC - DEL POLD1 ENST00000440232 human ensembl 69_37n +1 known frame_shift_del c.1968_1969 p.Q658fs 0.984:1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 84 0 0.00 22 24 52.17 - - - PRMT7 0 genome.wustl.edu 37 16 68373740 68373741 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 16 68373740 68373741 - G INS PRMT7 ENST00000339507 human ensembl 69_37n +1 known frame_shift_ins c.796_797 p.F267fs 0.999:0.998 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 216 0 0.00 112 21 15.79 - - - PSD2 0 genome.wustl.edu 37 5 139201528 139201528 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 5 139201528 139201528 G A SNP PSD2 ENST00000274710 human ensembl 69_37n +1 known missense c.1148 p.R383Q 0.996 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors PSD2 HGNC ENSG00000146005 144 0 0.00 69 44 38.94 - - - RAI1 0 genome.wustl.edu 37 17 17700773 17700774 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 17 17700773 17700774 - G INS RAI1 ENST00000353383 human ensembl 69_37n +1 known frame_shift_ins c.4511_4512 p.L1506fs 0.998:1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 42 0 0.00 10 2 16.67 - - - RANBP3 0 genome.wustl.edu 37 19 5933438 5933438 + Frame_Shift_Del DEL T T - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 19 5933438 5933438 T - DEL RANBP3 ENST00000340578 human ensembl 69_37n -1 known frame_shift_del c.459 p.A154fs 1.000 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 15 0 0.00 10 10 50.00 - - - RARB 0 genome.wustl.edu 37 3 25470351 25470351 + Silent SNP C C T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 3 25470351 25470351 C T SNP RARB ENST00000330688 human ensembl 69_37n +1 known silent c.129 p.T43 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 125 0 0.00 130 26 16.56 - - - RASGRF1 0 genome.wustl.edu 37 15 79350823 79350823 + Missense_Mutation SNP G G T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 15 79350823 79350823 G T SNP RASGRF1 ENST00000419573 human ensembl 69_37n -1 known missense c.384 p.S128R 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 211 1 0.47 86 77 47.24 - - - REEP6 0 genome.wustl.edu 37 19 1495370 1495371 + Frame_Shift_Ins INS - - C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 19 1495370 1495371 - C INS REEP6 ENST00000233596 human ensembl 69_37n +1 known frame_shift_ins c.193_194 p.Y65fs 0.995:1.000 pfam_TB2_DP1_HVA22 pfam_TB2_DP1_HVA22 - no_errors REEP6 HGNC ENSG00000115255 22 0 0.00 35 20 36.36 - - - RGAG1 0 genome.wustl.edu 37 X 109694015 109694015 + Missense_Mutation SNP A A G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a X 109694015 109694015 A G SNP RGAG1 ENST00000465301 human ensembl 69_37n +1 known missense c.170 p.D57G 0.716 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 322 0 0.00 101 30 22.73 - - - RPL7 0 genome.wustl.edu 37 8 74205837 74205837 + Missense_Mutation SNP A A C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 8 74205837 74205837 A C SNP RPL7 ENST00000352983 human ensembl 69_37n -1 known missense c.11 p.V4G 0.000 NULL pfam_Ribosomal_L30_N,pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk - no_errors RPL7 HGNC ENSG00000147604 110 0 0.00 70 13 15.66 - - - RRNAD1 0 genome.wustl.edu 37 1 156706431 156706431 + Missense_Mutation SNP T T G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 156706431 156706431 T G SNP RRNAD1 ENST00000368216 human ensembl 69_37n +1 known missense c.1314 p.H438Q 1.000 NULL NULL - no_errors RRNAD1 HGNC ENSG00000143303 166 0 0.00 121 52 30.06 - - - RTKN 0 genome.wustl.edu 37 2 74653445 74653445 + Silent SNP T T G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 2 74653445 74653445 T G SNP RTKN ENST00000272430 human ensembl 69_37n -1 known silent c.1617 p.P539 0.003 NULL pfam_Pleckstrin_homology,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN HGNC ENSG00000114993 55 0 0.00 23 5 17.86 - - - SCOC 0 genome.wustl.edu 37 4 141294858 141294858 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 4 141294858 141294858 G A SNP SCOC ENST00000510586 human ensembl 69_37n +1 known missense c.56 p.R19H 0.011 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SCOC HGNC ENSG00000153130 60 0 0.00 56 10 15.15 - - - SDCBP2 0 genome.wustl.edu 37 20 1293243 1293243 + Frame_Shift_Del DEL A A - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 20 1293243 1293243 A - DEL SDCBP2 ENST00000339987 human ensembl 69_37n -1 known frame_shift_del c.548 p.V183fs 0.981 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP2 HGNC ENSG00000125775 46 0 0.00 53 68 54.84 - - - SEMA5A 0 genome.wustl.edu 37 5 9224930 9224930 + Missense_Mutation SNP T T G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 5 9224930 9224930 T G SNP SEMA5A ENST00000382496 human ensembl 69_37n -1 known missense c.502 p.N168H 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 242 2 0.82 146 122 45.52 - - - SF3B2 0 genome.wustl.edu 37 11 65824744 65824745 + Frame_Shift_Ins INS - - C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 11 65824744 65824745 - C INS SF3B2 ENST00000322535 human ensembl 69_37n +1 known frame_shift_ins c.675_676 p.V226fs 0.971:0.998 NULL pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd - no_errors SF3B2 HGNC ENSG00000087365 48 0 0.00 13 2 13.33 - - - SMC2 0 genome.wustl.edu 37 9 106880574 106880574 + Silent SNP A A G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 9 106880574 106880574 A G SNP SMC2 ENST00000286398 human ensembl 69_37n +1 known silent c.1914 p.K638 1.000 pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 125 0 0.00 43 29 40.28 - - - SNPH 0 genome.wustl.edu 37 20 1276924 1276925 + Frame_Shift_Ins INS - - C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 20 1276924 1276925 - C INS SNPH ENST00000381867 human ensembl 69_37n +1 known frame_shift_ins c.41_42 p.A16fs 0.967:0.968 NULL NULL - no_errors SNPH HGNC ENSG00000101298 70 0 0.00 15 2 11.76 - - - SPPL3 0 genome.wustl.edu 37 12 121202863 121202863 + Missense_Mutation SNP C C T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 12 121202863 121202863 C T SNP SPPL3 ENST00000353487 human ensembl 69_37n -1 known missense c.1094 p.R365Q 1.000 pfam_Peptidase_A22B_SPP pfam_Peptidase_A22B_SPP,smart_Peptidase_A22 - no_errors SPPL3 HGNC ENSG00000157837 234 0 0.00 103 25 19.38 - - - ST3GAL3 0 genome.wustl.edu 37 1 44365341 44365341 + Missense_Mutation SNP C C T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 44365341 44365341 C T SNP ST3GAL3 ENST00000262915 human ensembl 69_37n +1 known missense c.893 p.A298V 0.999 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL3 HGNC ENSG00000126091 79 0 0.00 42 7 14.29 - - - STARD9 0 genome.wustl.edu 37 15 42980456 42980457 + Frame_Shift_Ins INS - - GG TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 15 42980456 42980457 - GG INS STARD9 ENST00000290607 human ensembl 69_37n +1 known frame_shift_ins c.6680_6681 p.K2228fs 0.000:0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 62 0 0.00 32 55 63.22 - - - STARD9 0 genome.wustl.edu 37 15 42980460 42980461 + Frame_Shift_Ins INS - - TG TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 15 42980460 42980461 - TG INS STARD9 ENST00000290607 human ensembl 69_37n +1 known frame_shift_ins c.6684_6685 p.A2228fs 0.000:0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 59 0 0.00 25 52 67.53 - - - STOM 0 genome.wustl.edu 37 9 124103484 124103484 + Missense_Mutation SNP C C G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 9 124103484 124103484 C G SNP STOM ENST00000286713 human ensembl 69_37n -1 known missense c.863 p.G288A 0.007 NULL pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOM HGNC ENSG00000148175 122 0 0.00 58 31 34.44 - - - STRN 0 genome.wustl.edu 37 2 37193534 37193535 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 2 37193534 37193535 - G INS STRN ENST00000263918 human ensembl 69_37n -1 known frame_shift_ins c.73_72 p.G24fs 1.000:0.998 NULL pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRN HGNC ENSG00000115808 8 0 0.00 4 2 33.33 - - - TAAR5 0 genome.wustl.edu 37 6 132910165 132910165 + Missense_Mutation SNP T T G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 6 132910165 132910165 T G SNP TAAR5 ENST00000258034 human ensembl 69_37n -1 known missense c.661 p.K221Q 0.998 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR5 HGNC ENSG00000135569 88 0 0.00 27 9 25.00 - - - TANC2 0 genome.wustl.edu 37 17 61457104 61457105 + Frame_Shift_Ins INS - - G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 17 61457104 61457105 - G INS TANC2 ENST00000424789 human ensembl 69_37n +1 known frame_shift_ins c.2386_2387 p.F797fs 1.000:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 255 0 0.00 140 17 10.83 - - - TEP1 0 genome.wustl.edu 37 14 20845601 20845601 + Missense_Mutation SNP C C A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 14 20845601 20845601 C A SNP TEP1 ENST00000262715 human ensembl 69_37n -1 known missense c.5926 p.A1976S 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 56 0 0.00 18 25 58.14 - - - TFPI2 0 genome.wustl.edu 37 7 93516633 93516633 + Missense_Mutation SNP A A C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 7 93516633 93516633 A C SNP TFPI2 ENST00000222543 human ensembl 69_37n -1 known missense c.571 p.C191G 1.000 pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 102 1 0.97 26 11 29.73 - - - TLE6 0 genome.wustl.edu 37 19 2987237 2987238 + Splice_Site DEL GT GT - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 19 2987237 2987238 GT - DEL TLE6 ENST00000246112 human ensembl 69_37n +1 known splice_site_del c.541+1_541+1 e6+1 0.010:0.007 - - - no_errors TLE6 HGNC ENSG00000104953 56 0 0.00 35 43 55.13 - - - TMCO7 0 genome.wustl.edu 37 16 68936373 68936375 + In_Frame_Del DEL GGT GGT - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 GGT GGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 16 68936373 68936375 GGT - DEL TMCO7 ENST00000261778 human ensembl 69_37n +1 known in_frame_del c.1633_1635 p.G546in_frame_del 1.000:1.000:0.997 superfamily_ARM-type_fold pfam_DUF2411,superfamily_ARM-type_fold - no_errors TMCO7 HGNC ENSG00000103047 119 0 0.00 93 47 33.33 - - - TMEM151B 0 genome.wustl.edu 37 6 44274744 44274744 + Missense_Mutation SNP A A G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 6 44274744 44274744 A G SNP TMEM151B ENST00000438774 human ensembl 69_37n +1 putative missense c.641 p.D214G 0.804 NULL NULL - no_errors TMEM151B HGNC ENSG00000178233 138 0 0.00 131 50 27.62 - - - TMEM201 0 genome.wustl.edu 37 1 9657089 9657089 + Frame_Shift_Del DEL C C - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 9657089 9657089 C - DEL TMEM201 ENST00000340381 human ensembl 69_37n +1 known frame_shift_del c.407 p.A137fs 0.999 pfam_DUF2349 pfam_DUF2448,pfam_DUF2349 - no_errors TMEM201 HGNC ENSG00000188807 25 0 0.00 36 200 84.03 - - - TMEM207 0 genome.wustl.edu 37 3 190158147 190158147 + Missense_Mutation SNP G G C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 3 190158147 190158147 G C SNP TMEM207 ENST00000354905 human ensembl 69_37n -1 known missense c.190 p.L64V 0.012 NULL NULL - no_errors TMEM207 HGNC ENSG00000198398 119 0 0.00 60 19 24.05 - - - TMEM9 0 genome.wustl.edu 37 1 201112979 201112979 + Missense_Mutation SNP G G C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 201112979 201112979 G C SNP TMEM9 ENST00000367332 human ensembl 69_37n -1 known missense c.377 p.T126S 1.000 pfam_TMEM9 pfam_TMEM9 - no_errors TMEM9 HGNC ENSG00000116857 113 0 0.00 79 29 26.85 - - - TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.742 p.R248W 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 240 0 0.00 94 72 43.37 - - - TRBV25-1 0 genome.wustl.edu 37 7 142379031 142379031 + Missense_Mutation SNP C C T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 7 142379031 142379031 C T SNP TRBV25-1 ENST00000390398 human ensembl 69_37n +1 known missense c.299 p.A100V 0.005 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV25-1 HGNC ENSG00000211751 117 0 0.00 86 34 28.10 - - - TTC38 0 genome.wustl.edu 37 22 46671227 46671227 + Missense_Mutation SNP G G T TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 22 46671227 46671227 G T SNP TTC38 ENST00000381031 human ensembl 69_37n +1 novel missense c.448 p.D150Y 1.000 NULL NULL - no_errors TTC38 HGNC ENSG00000075234 106 0 0.00 62 34 35.42 - - - TTPAL 0 genome.wustl.edu 37 20 43115317 43115317 + Frame_Shift_Del DEL C C - TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 20 43115317 43115317 C - DEL TTPAL ENST00000262605 human ensembl 69_37n +1 known frame_shift_del c.721 p.P241fs 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPAL HGNC ENSG00000124120 133 0 0.00 140 149 51.38 - - - UBR4 0 genome.wustl.edu 37 1 19524455 19524455 + Missense_Mutation SNP C C G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 19524455 19524455 C G SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.737 p.S246T 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 135 0 0.00 85 15 14.85 - - - UNC5B 0 genome.wustl.edu 37 10 73050830 73050830 + Missense_Mutation SNP G G C TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 10 73050830 73050830 G C SNP UNC5B ENST00000335350 human ensembl 69_37n +1 known missense c.1258 p.G420R 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Death,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5B HGNC ENSG00000107731 75 0 0.00 38 14 26.92 - - - VAMP3 0 genome.wustl.edu 37 1 7837293 7837293 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 7837293 7837293 G A SNP VAMP3 ENST00000054666 human ensembl 69_37n +1 known missense c.146 p.R49H 1.000 pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin - no_errors VAMP3 HGNC ENSG00000049245 132 0 0.00 89 20 18.18 - - - VPS16 0 genome.wustl.edu 37 20 2843348 2843348 + Missense_Mutation SNP C C A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 20 2843348 2843348 C A SNP VPS16 ENST00000380445 human ensembl 69_37n +1 known missense c.1195 p.L399M 1.000 pfam_Vps16_N,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 19 0 0.00 13 19 59.38 - - - XPO7 0 genome.wustl.edu 37 8 21862535 21862535 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 8 21862535 21862535 G A SNP XPO7 ENST00000434536 human ensembl 69_37n +1 known missense c.3227 p.R1076Q 1.000 NULL pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 124 0 0.00 39 19 32.76 - - - YIPF1 0 genome.wustl.edu 37 1 54325811 54325811 + Missense_Mutation SNP C C A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 1 54325811 54325811 C A SNP YIPF1 ENST00000539954 human ensembl 69_37n -1 known missense c.922 p.A308S 1.000 NULL pfam_Yip1,superfamily_Ribonuclease/ribotoxin - no_errors YIPF1 HGNC ENSG00000058799 219 0 0.00 85 14 14.14 - - - ZNF141 0 genome.wustl.edu 37 4 366959 366959 + Missense_Mutation SNP C C G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 4 366959 366959 C G SNP ZNF141 ENST00000240499 human ensembl 69_37n +1 known missense c.733 p.H245D 0.677 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 ZNF141 HGNC ENSG00000131127 72 0 0.00 26 19 42.22 - - - ZNF167 0 genome.wustl.edu 37 3 44612620 44612620 + Missense_Mutation SNP G G A TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 3 44612620 44612620 G A SNP ZNF167 ENST00000273320 human ensembl 69_37n +1 known missense c.2018 p.S673N 0.784 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF167 HGNC ENSG00000196345 120 0 0.00 47 57 54.81 - - - ZRANB1 0 genome.wustl.edu 37 10 126662834 126662834 + Missense_Mutation SNP C C G TCGA-AN-A0FX-01A-11W-A050-09 TCGA-AN-A0FX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2523cf22-1a16-42be-8560-833ed2031e3c c87dc746-b04b-4b8e-af6a-ac51f04e3d6a 10 126662834 126662834 C G SNP ZRANB1 ENST00000359653 human ensembl 69_37n +1 known missense c.1294 p.L432V 0.980 pfscan_OTU pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 175 0 0.00 105 35 25.00 - - -