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 ABCC10 0 genome.wustl.edu 37 6 43409631 43409631 + Missense_Mutation SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 6 43409631 43409631 G C SNP ABCC10 ENST00000372530 human ensembl 69_37n +1 known missense c.2159 p.G720A 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 - no_errors ABCC10 HGNC ENSG00000124574 94 0 0.00 98 21 17.50 - - - ACTN4 0 genome.wustl.edu 37 19 39220042 39220042 + Silent SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 19 39220042 39220042 C T SNP ACTN4 ENST00000252699 human ensembl 69_37n +1 known silent c.2706 p.S902 1.000 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ENSG00000130402 36 0 0.00 102 23 18.40 - - - ALS2 0 genome.wustl.edu 37 2 202619363 202619363 + Silent SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 2 202619363 202619363 C T SNP ALS2 ENST00000264276 human ensembl 69_37n -1 known silent c.1503 p.R501 0.966 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,prints_Reg_chr_condens,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain - no_errors ALS2 HGNC ENSG00000003393 45 0 0.00 19 8 29.63 - - - AMELX 0 genome.wustl.edu 37 X 11316684 11316684 + Missense_Mutation SNP A A T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 X 11316684 11316684 A T SNP AMELX ENST00000380712 human ensembl 69_37n +1 known missense c.203 p.Y68F 1.000 pfam_Amelogenin,smart_Amelogenin pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin - no_errors AMELX HGNC ENSG00000125363 109 0 0.00 120 29 19.46 - - - ANKAR 0 genome.wustl.edu 37 2 190561055 190561055 + Missense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 2 190561055 190561055 C A SNP ANKAR ENST00000313581 human ensembl 69_37n +1 known missense c.1668 p.N556K 0.151 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 78 0 0.00 50 49 49.49 - - - ARHGEF19 0 genome.wustl.edu 37 1 16532255 16532255 + RNA SNP C C G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 16532255 16532255 C G SNP ARHGEF19 ENST00000471928 human ensembl 69_37n -1 known rna NULL NULL 0.037 - - - no_errors ARHGEF19 HGNC ENSG00000142632 28 0 0.00 15 12 44.44 - - - ATP10A 0 genome.wustl.edu 37 15 26026270 26026270 + Missense_Mutation SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 15 26026270 26026270 G A SNP ATP10A ENST00000356865 human ensembl 69_37n -1 known missense c.550 p.L184F 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 102 0 0.00 62 35 36.08 - - - AVPR1B 0 genome.wustl.edu 37 1 206224466 206224466 + Missense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 206224466 206224466 C A SNP AVPR1B ENST00000367126 human ensembl 69_37n +1 known missense c.26 p.A9D 0.004 prints_Vprs_rcpt_V1B pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt - no_errors AVPR1B HGNC ENSG00000198049 91 0 0.00 93 20 17.70 - - - BCAS2 0 genome.wustl.edu 37 1 115123985 115123985 + Missense_Mutation SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 115123985 115123985 G C SNP BCAS2 ENST00000369541 human ensembl 69_37n -1 known missense c.121 p.R41G 0.995 pfam_BCAS2 pfam_BCAS2 - no_errors BCAS2 HGNC ENSG00000116752 43 0 0.00 43 9 17.31 - - - C11orf49 0 genome.wustl.edu 37 11 47178757 47178757 + Missense_Mutation SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 11 47178757 47178757 G A SNP C11orf49 ENST00000378615 human ensembl 69_37n +1 known missense c.635 p.R212Q 1.000 NULL NULL - no_errors C11orf49 HGNC ENSG00000149179 43 0 0.00 53 10 15.87 - - - C1orf141 0 genome.wustl.edu 37 1 67568957 67568957 + Missense_Mutation SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 67568957 67568957 C T SNP C1orf141 ENST00000448166 human ensembl 69_37n -1 known missense c.523 p.A175T 0.013 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region C1orf141 HGNC ENSG00000203963 50 0 0.00 35 7 16.67 - - - CACNA1C 0 genome.wustl.edu 37 12 2705149 2705149 + Missense_Mutation SNP C C G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 12 2705149 2705149 C G SNP CACNA1C ENST00000399634 human ensembl 69_37n +1 known missense c.2773 p.H925D 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 47 0 0.00 55 14 20.29 - - - CAPN12 0 genome.wustl.edu 37 19 39234799 39234799 + Missense_Mutation SNP A A T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 19 39234799 39234799 A T SNP CAPN12 ENST00000328867 human ensembl 69_37n -1 known missense c.7 p.S3T 0.022 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 48 0 0.00 39 60 60.61 - - - CASKIN1 0 genome.wustl.edu 37 16 2239096 2239096 + Missense_Mutation SNP G G T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 16 2239096 2239096 G T SNP CASKIN1 ENST00000343516 human ensembl 69_37n -1 known missense c.549 p.D183E 0.980 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 77 0 0.00 65 10 13.33 - - - CBLC 0 genome.wustl.edu 37 19 45284307 45284307 + Missense_Mutation SNP C C G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 19 45284307 45284307 C G SNP CBLC ENST00000270279 human ensembl 69_37n +1 known missense c.499 p.R167G 0.983 pfam_Adaptor_Cbl_EF_hand-like pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC ENSG00000142273 49 0 0.00 47 39 45.35 - - - CCDC155 0 genome.wustl.edu 37 19 49913126 49913126 + Silent SNP G G T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 19 49913126 49913126 G T SNP CCDC155 ENST00000447857 human ensembl 69_37n +1 known silent c.1263 p.G421 0.000 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 41 0 0.00 41 8 16.00 - - - CCDC37 0 genome.wustl.edu 37 3 126135159 126135159 + Missense_Mutation SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 3 126135159 126135159 G C SNP CCDC37 ENST00000393425 human ensembl 69_37n +1 known missense c.226 p.E76Q 0.973 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC ENSG00000163885 123 0 0.00 103 32 23.70 - - - CCDC74A 0 genome.wustl.edu 37 2 132287905 132287905 + Missense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 2 132287905 132287905 C A SNP CCDC74A ENST00000467992 human ensembl 69_37n +1 known missense c.355 p.P119T 0.015 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 68 0 0.00 73 11 13.10 - - - CCDC87 0 genome.wustl.edu 37 11 66358623 66358623 + Missense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 11 66358623 66358623 C A SNP CCDC87 ENST00000333861 human ensembl 69_37n -1 known missense c.1864 p.V622L 0.002 NULL pfam_Microtubule-assoc_MAP65_ASE1 - no_errors CCDC87 HGNC ENSG00000182791 46 0 0.00 41 6 12.77 - - - CCS 0 genome.wustl.edu 37 11 66366699 66366699 + Silent SNP C C G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 11 66366699 66366699 C G SNP CCS ENST00000533244 human ensembl 69_37n +1 known silent c.225 p.L75 1.000 superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA pfam_SOD_Cu_Zn_dom,pfam_HeavyMe-assoc_HMA,superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_SOD_Cu_Zn_dom - no_errors CCS HGNC ENSG00000173992 67 0 0.00 47 15 24.19 - - - CD8B 0 genome.wustl.edu 37 2 87085339 87085339 + Missense_Mutation SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 2 87085339 87085339 C T SNP CD8B ENST00000331469 human ensembl 69_37n -1 known missense c.244 p.G82S 0.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD8B HGNC ENSG00000172116 109 0 0.00 115 70 37.84 - - - CEACAMP10 0 genome.wustl.edu 37 19 43716568 43716568 + RNA SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 19 43716568 43716568 G A SNP CEACAMP10 ENST00000489959 human ensembl 69_37n -1 known rna NULL NULL 0.004 - - - no_errors CEACAMP10 HGNC ENSG00000241104 99 0 0.00 121 38 23.90 - - - CLUAP1 0 genome.wustl.edu 37 16 3580649 3580649 + Missense_Mutation SNP A A C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 16 3580649 3580649 A C SNP CLUAP1 ENST00000576634 human ensembl 69_37n +1 known missense c.1010 p.Q337P 0.317 NULL pfam_Clusterin-associated_protein-1,superfamily_CH-domain - no_errors CLUAP1 HGNC ENSG00000103351 24 0 0.00 38 9 19.15 - - - COL16A1 0 genome.wustl.edu 37 1 32165447 32165447 + Missense_Mutation SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 32165447 32165447 C T SNP COL16A1 ENST00000271069 human ensembl 69_37n -1 known missense c.233 p.R78H 1.000 superfamily_ConA-like_lec_gl,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 61 0 0.00 37 14 27.45 - - - CPSF6 0 genome.wustl.edu 37 12 69656294 69656294 + Missense_Mutation SNP C C G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 12 69656294 69656294 C G SNP CPSF6 ENST00000266679 human ensembl 69_37n +1 known missense c.1722 p.D574E 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC ENSG00000111605 33 0 0.00 31 4 10.53 - - - CROT 0 genome.wustl.edu 37 7 87011757 87011757 + Missense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 7 87011757 87011757 C A SNP CROT ENST00000331536 human ensembl 69_37n +1 known missense c.1199 p.A400D 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 101 0 0.00 60 53 46.90 - - - CYP7A1 0 genome.wustl.edu 37 8 59407086 59407086 + Missense_Mutation SNP G G T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 8 59407086 59407086 G T SNP CYP7A1 ENST00000301645 human ensembl 69_37n -1 known missense c.1018 p.L340M 0.985 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP7A1 HGNC ENSG00000167910 54 0 0.00 54 6 10.00 - - - DHX34 0 genome.wustl.edu 37 19 47879196 47879196 + Missense_Mutation SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 19 47879196 47879196 C T SNP DHX34 ENST00000328771 human ensembl 69_37n +1 known missense c.2323 p.L775F 1.000 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 51 0 0.00 51 11 17.74 - - - DKK3 0 genome.wustl.edu 37 11 11987491 11987491 + Missense_Mutation SNP G G T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 11 11987491 11987491 G T SNP DKK3 ENST00000326932 human ensembl 69_37n -1 known missense c.695 p.T232K 1.000 NULL pfam_Dickkopf_N - no_errors DKK3 HGNC ENSG00000050165 89 0 0.00 59 17 22.37 - - - DLL1 0 genome.wustl.edu 37 6 170597503 170597503 + Missense_Mutation SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 6 170597503 170597503 C T SNP DLL1 ENST00000366756 human ensembl 69_37n -1 known missense c.494 p.S165N 0.995 pfam_DSL,smart_DSL pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 90 0 0.00 68 18 20.93 - - - DNAH17 0 genome.wustl.edu 37 17 76471536 76471536 + Missense_Mutation SNP C C G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 17 76471536 76471536 C G SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known missense c.8293 p.A2765P 0.682 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 42 0 0.00 87 20 18.69 - - - ELF2 0 genome.wustl.edu 37 4 139980596 139980596 + Silent SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 4 139980596 139980596 C A SNP ELF2 ENST00000379550 human ensembl 69_37n -1 known silent c.1323 p.V441 1.000 NULL pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELF2 HGNC ENSG00000109381 126 0 0.00 93 81 46.55 - - - EPHB3 0 genome.wustl.edu 37 3 184294819 184294819 + Missense_Mutation SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 3 184294819 184294819 G C SNP EPHB3 ENST00000330394 human ensembl 69_37n +1 known missense c.1202 p.R401P 1.000 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_type1,pfam_SAM_2,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 EPHB3 HGNC ENSG00000182580 68 0 0.00 46 69 60.00 - - - ERVW-1 0 genome.wustl.edu 37 7 92098628 92098628 + Silent SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 7 92098628 92098628 C A SNP ERVW-1 ENST00000493463 human ensembl 69_37n -1 known silent c.1068 p.G356 0.712 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC ENSG00000242950 53 0 0.00 54 11 16.92 - - - ESAM 0 genome.wustl.edu 37 11 124628362 124628362 + Missense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 11 124628362 124628362 C A SNP ESAM ENST00000278927 human ensembl 69_37n -1 known missense c.132 p.E44D 0.999 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors ESAM HGNC ENSG00000149564 29 0 0.00 25 11 30.56 - - - EVI5L 0 genome.wustl.edu 37 19 7928149 7928149 + Missense_Mutation SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 19 7928149 7928149 G A SNP EVI5L ENST00000538904 human ensembl 69_37n +1 known missense c.2122 p.E708K 0.997 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC ENSG00000142459 14 0 0.00 9 4 30.77 - - - FAM65A 0 genome.wustl.edu 37 16 67578919 67578919 + Missense_Mutation SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 16 67578919 67578919 G A SNP FAM65A ENST00000422602 human ensembl 69_37n +1 known missense c.2990 p.R997K 0.986 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 64 0 0.00 62 25 28.74 - - - FAT3 0 genome.wustl.edu 37 11 92086868 92086868 + Silent SNP A A G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 11 92086868 92086868 A G SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known silent c.1590 p.T530 0.821 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin 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 36 7 16.28 - - - FOLH1B 0 genome.wustl.edu 37 11 89405157 89405157 + RNA SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 11 89405157 89405157 G C SNP FOLH1B ENST00000525540 human ensembl 69_37n +1 known rna NULL NULL 0.997 - - - no_errors FOLH1B HGNC ENSG00000134612 82 0 0.00 51 39 43.33 - - - FREM1 0 genome.wustl.edu 37 9 14857742 14857742 + Missense_Mutation SNP T T C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 9 14857742 14857742 T C SNP FREM1 ENST00000380881 human ensembl 69_37n -1 known missense c.637 p.R213G 0.261 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 66 0 0.00 45 12 21.05 - - - FZD2 0 genome.wustl.edu 37 17 42636406 42636408 + In_Frame_Del DEL CAA CAA - TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 CAA CAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 17 42636406 42636408 CAA - DEL FZD2 ENST00000315323 human ensembl 69_37n +1 known in_frame_del c.1350_1352 p.K451in_frame_del 1.000:1.000:1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like - no_errors FZD2 HGNC ENSG00000180340 48 0 0.00 41 10 18.87 - - - FZD2 0 genome.wustl.edu 37 17 42636411 42636411 + Frame_Shift_Del DEL C C - TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 17 42636411 42636411 C - DEL FZD2 ENST00000315323 human ensembl 69_37n +1 known frame_shift_del c.1355 p.E453fs 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like - no_errors FZD2 HGNC ENSG00000180340 52 0 0.00 41 11 20.75 - - - GRB7 0 genome.wustl.edu 37 17 37899449 37899449 + Missense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 17 37899449 37899449 C A SNP GRB7 ENST00000445327 human ensembl 69_37n +1 known missense c.549 p.D183E 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 60 0 0.00 54 10 15.62 - - - GRM1 0 genome.wustl.edu 37 6 146350685 146350685 + Missense_Mutation SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 6 146350685 146350685 C T SNP GRM1 ENST00000282753 human ensembl 69_37n +1 known missense c.32 p.A11V 0.005 prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5,pfscan_GPCR_3_C - no_errors GRM1 HGNC ENSG00000152822 79 0 0.00 56 14 20.00 - - - GRM1 0 genome.wustl.edu 37 6 146720677 146720677 + Missense_Mutation SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 6 146720677 146720677 G C SNP GRM1 ENST00000282753 human ensembl 69_37n +1 known missense c.2502 p.K834N 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5,pfscan_GPCR_3_C - no_errors GRM1 HGNC ENSG00000152822 92 0 0.00 66 15 18.52 - - - GYG2 0 genome.wustl.edu 37 X 2795452 2795452 + RNA SNP A A C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 X 2795452 2795452 A C SNP GYG2 ENST00000453106 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors GYG2 HGNC ENSG00000056998 73 0 0.00 46 27 36.99 - - - HOXA-AS3 0 genome.wustl.edu 37 7 27194355 27194355 + RNA SNP G G T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 7 27194355 27194355 G T SNP HOXA-AS3 ENST00000518947 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors HOXA-AS3 HGNC ENSG00000254369 19 0 0.00 13 8 38.10 - - - HRAS 0 genome.wustl.edu 37 11 533874 533874 + Missense_Mutation SNP T T A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 11 533874 533874 T A SNP HRAS ENST00000311189 human ensembl 69_37n -1 known missense c.182 p.Q61L 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors HRAS HGNC ENSG00000174775 62 0 0.00 66 13 16.46 - - - HRH1 0 genome.wustl.edu 37 3 11301811 11301811 + Nonsense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 3 11301811 11301811 C A SNP HRH1 ENST00000397056 human ensembl 69_37n +1 known nonsense c.1088 p.S363* 0.035 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H1_recept,prints_7TM_GPCR_Rhodpsn,prints_Musac_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors HRH1 HGNC ENSG00000196639 29 0 0.00 11 18 62.07 - - - HSD3B1 0 genome.wustl.edu 37 1 120050204 120050204 + Missense_Mutation SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 120050204 120050204 G C SNP HSD3B1 ENST00000235547 human ensembl 69_37n +1 known missense c.111 p.L37F 0.974 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC ENSG00000203857 117 0 0.00 61 32 34.41 - - - IGLV2-14 0 genome.wustl.edu 37 22 23101555 23101555 + Missense_Mutation SNP A A C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 22 23101555 23101555 A C SNP IGLV2-14 ENST00000390312 human ensembl 69_37n +1 known missense c.209 p.Y70S 0.017 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region IGLV2-14 HGNC ENSG00000211666 113 0 0.00 94 26 21.67 - - - IL1RL1 0 genome.wustl.edu 37 2 102955408 102955408 + Missense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 2 102955408 102955408 C A SNP IL1RL1 ENST00000233954 human ensembl 69_37n +1 known missense c.173 p.P58H 0.002 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RL1 HGNC ENSG00000115602 51 0 0.00 30 18 37.50 - - - IL1RL1 0 genome.wustl.edu 37 2 102965550 102965550 + Missense_Mutation SNP T T A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 2 102965550 102965550 T A SNP IL1RL1 ENST00000233954 human ensembl 69_37n +1 known missense c.1129 p.Y377N 1.000 superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1 pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RL1 HGNC ENSG00000115602 78 0 0.00 91 18 16.51 - - - ITIH1 0 genome.wustl.edu 37 3 52818385 52818385 + Silent SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 3 52818385 52818385 G C SNP ITIH1 ENST00000273283 human ensembl 69_37n +1 known silent c.1299 p.L433 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 64 0 0.00 48 12 20.00 - - - IVL 0 genome.wustl.edu 37 1 152882825 152882825 + Missense_Mutation SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 152882825 152882825 G C SNP IVL ENST00000368764 human ensembl 69_37n +1 known missense c.552 p.E184D 0.000 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 33 0 0.00 48 14 22.58 - - - JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42127178 42127178 + Missense_Mutation SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 15 42127178 42127178 G C SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 69_37n +1 known missense c.229 p.G77R 1.000 NULL pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_JmjC_dom,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 65 0 0.00 43 18 29.03 - - - KCP 0 genome.wustl.edu 37 7 128524884 128524884 + RNA SNP C C G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 7 128524884 128524884 C G SNP KCP ENST00000297801 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors KCP HGNC ENSG00000135253 58 0 0.00 28 14 33.33 - - - KDM4B 0 genome.wustl.edu 37 19 5150386 5150386 + Silent SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 19 5150386 5150386 G A SNP KDM4B ENST00000159111 human ensembl 69_37n +1 known silent c.3039 p.G1013 0.947 smart_Tudor pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 109 0 0.00 68 31 31.31 - - - KRTAP10-4 0 genome.wustl.edu 37 21 45993819 45993819 + Missense_Mutation SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 21 45993819 45993819 C T SNP KRTAP10-4 ENST00000400374 human ensembl 69_37n +1 known missense c.184 p.R62C 0.975 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 39 0 0.00 33 5 13.16 - - - KRTAP5-6 0 genome.wustl.edu 37 11 1718781 1718781 + Silent SNP A A G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 11 1718781 1718781 A G SNP KRTAP5-6 ENST00000382160 human ensembl 69_37n +1 known silent c.306 p.S102 0.000 NULL NULL - no_errors KRTAP5-6 HGNC ENSG00000205864 156 1 0.64 126 37 22.56 - - - LCT 0 genome.wustl.edu 37 2 136567233 136567233 + Missense_Mutation SNP C C G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 2 136567233 136567233 C G SNP LCT ENST00000264162 human ensembl 69_37n -1 known missense c.2684 p.R895T 1.000 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 55 0 0.00 51 30 36.59 - - - LGR5 0 genome.wustl.edu 37 12 71978452 71978452 + Missense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 12 71978452 71978452 C A SNP LGR5 ENST00000266674 human ensembl 69_37n +1 known missense c.2662 p.P888T 0.070 NULL pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LGR5 HGNC ENSG00000139292 41 0 0.00 37 22 37.29 - - - LIMS1 0 genome.wustl.edu 37 2 109292433 109292433 + Silent SNP G G T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 2 109292433 109292433 G T SNP LIMS1 ENST00000542845 human ensembl 69_37n +1 known silent c.780 p.R260 0.998 pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM - no_errors LIMS1 HGNC ENSG00000169756 144 0 0.00 156 46 22.77 - - - LRP1 0 genome.wustl.edu 37 12 57600403 57600403 + Missense_Mutation SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 12 57600403 57600403 G A SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known missense c.11738 p.R3913H 0.994 superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 111 0 0.00 73 25 25.25 - - - LRRC4 0 genome.wustl.edu 37 7 127670327 127670327 + Missense_Mutation SNP C C G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 7 127670327 127670327 C G SNP LRRC4 ENST00000249363 human ensembl 69_37n -1 known missense c.367 p.A123P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4 HGNC ENSG00000128594 101 0 0.00 46 25 35.21 - - - MAOB 0 genome.wustl.edu 37 X 43656376 43656376 + Missense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 X 43656376 43656376 C A SNP MAOB ENST00000378069 human ensembl 69_37n -1 known missense c.614 p.G205V 1.000 pfam_Amino_oxidase,prints_Flavin_amine_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors MAOB HGNC ENSG00000069535 55 0 0.00 105 23 17.97 - - - MAPT 0 genome.wustl.edu 37 17 44055647 44055647 + Nonsense_Mutation SNP A A T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 17 44055647 44055647 A T SNP MAPT ENST00000576518 human ensembl 69_37n +1 putative nonsense c.7 p.K3* 0.000 NULL pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein - no_errors MAPT HGNC ENSG00000186868 29 0 0.00 33 4 10.81 - - - MCFD2 0 genome.wustl.edu 37 2 47132590 47132590 + RNA SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 2 47132590 47132590 G A SNP MCFD2 ENST00000470873 human ensembl 69_37n -1 putative rna NULL NULL 0.001 - - - no_errors MCFD2 HGNC ENSG00000180398 54 0 0.00 95 23 19.49 - - - MIA3 0 genome.wustl.edu 37 1 222835811 222835811 + RNA SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 222835811 222835811 C T SNP MIA3 ENST00000479370 human ensembl 69_37n +1 putative rna NULL NULL 0.989 - - - no_errors MIA3 HGNC ENSG00000154305 10 0 0.00 8 8 50.00 - - - MMP16 0 genome.wustl.edu 37 8 89131087 89131087 + Missense_Mutation SNP T T A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 8 89131087 89131087 T A SNP MMP16 ENST00000286614 human ensembl 69_37n -1 known missense c.713 p.N238I 1.000 pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC ENSG00000156103 82 0 0.00 129 26 16.77 - - - MORC1 0 genome.wustl.edu 37 3 108723919 108723919 + Nonsense_Mutation SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 3 108723919 108723919 G A SNP MORC1 ENST00000232603 human ensembl 69_37n -1 known nonsense c.2011 p.Q671* 0.966 NULL pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 37 0 0.00 28 8 22.22 - - - MPP7 0 genome.wustl.edu 37 10 28409186 28409186 + Missense_Mutation SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 10 28409186 28409186 G C SNP MPP7 ENST00000337532 human ensembl 69_37n -1 known missense c.824 p.A275G 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_SH3_domain,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP7 HGNC ENSG00000150054 49 0 0.00 38 15 28.30 - - - MPZL1 0 genome.wustl.edu 37 1 167734870 167734870 + Missense_Mutation SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 167734870 167734870 G C SNP MPZL1 ENST00000359523 human ensembl 69_37n +1 known missense c.142 p.V48L 0.998 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0 - no_errors MPZL1 HGNC ENSG00000197965 33 0 0.00 27 23 46.00 - - - MYH8 0 genome.wustl.edu 37 17 10300034 10300034 + Missense_Mutation SNP A A T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 17 10300034 10300034 A T SNP MYH8 ENST00000403437 human ensembl 69_37n -1 known missense c.4364 p.V1455D 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 37 0 0.00 34 10 22.73 - - - MYO18B 0 genome.wustl.edu 37 22 26422417 26422417 + Missense_Mutation SNP C C G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 22 26422417 26422417 C G SNP MYO18B ENST00000335473 human ensembl 69_37n +1 known missense c.6477 p.N2159K 0.000 NULL pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 29 0 0.00 47 12 20.34 - - - NEFM 0 genome.wustl.edu 37 8 24771591 24771591 + Silent SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 8 24771591 24771591 G A SNP NEFM ENST00000221166 human ensembl 69_37n +1 known silent c.285 p.K95 1.000 pfam_Intermed_filament_DNA-bd pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 33 0 0.00 29 4 12.12 - - - NLRP2 0 genome.wustl.edu 37 19 55481613 55481613 + Missense_Mutation SNP A A T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 19 55481613 55481613 A T SNP NLRP2 ENST00000448584 human ensembl 69_37n +1 known missense c.230 p.E77V 0.002 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 43 0 0.00 30 7 18.92 - - - NOTCH2 0 genome.wustl.edu 37 1 120491104 120491104 + Silent SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 120491104 120491104 G A SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known silent c.2685 p.Y895 1.000 pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 79 0 0.00 133 18 11.92 - - - NWD1 0 genome.wustl.edu 37 19 16923622 16923622 + Missense_Mutation SNP T T A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 19 16923622 16923622 T A SNP NWD1 ENST00000339803 human ensembl 69_37n +1 known missense c.3949 p.L1317I 0.990 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 167 0 0.00 115 46 28.57 - - - OR2M7 0 genome.wustl.edu 37 1 248487708 248487708 + Missense_Mutation SNP G G T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 248487708 248487708 G T SNP OR2M7 ENST00000317965 human ensembl 69_37n -1 known missense c.163 p.L55I 0.336 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 120 0 0.00 197 36 15.45 - - - OR2T8 0 genome.wustl.edu 37 1 248084798 248084798 + Missense_Mutation SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 248084798 248084798 C T SNP OR2T8 ENST00000319968 human ensembl 69_37n +1 known missense c.479 p.A160V 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 12 0 0.00 16 8 33.33 - - - OTUD7B 0 genome.wustl.edu 37 1 149915938 149915938 + Missense_Mutation SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 149915938 149915938 C T SNP OTUD7B ENST00000369135 human ensembl 69_37n -1 known missense c.2350 p.E784K 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 87 0 0.00 162 19 10.50 - - - PHEX 0 genome.wustl.edu 37 X 22132593 22132593 + Silent SNP A A C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 X 22132593 22132593 A C SNP PHEX ENST00000379374 human ensembl 69_37n +1 known silent c.1191 p.T397 0.990 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 102 0 0.00 73 26 26.26 - - - PIK3R4 0 genome.wustl.edu 37 3 130427331 130427331 + Missense_Mutation SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 3 130427331 130427331 C T SNP PIK3R4 ENST00000356763 human ensembl 69_37n -1 known missense c.2337 p.M779I 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 53 0 0.00 46 16 25.81 - - - PILRB 0 genome.wustl.edu 37 7 99933732 99933732 + RNA SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 7 99933732 99933732 G C SNP PILRB ENST00000470714 human ensembl 69_37n +1 known rna NULL NULL 0.011 - - - no_errors PILRB HGNC ENSG00000121716 140 0 0.00 117 49 29.52 - - - PLCH2 0 genome.wustl.edu 37 1 2418615 2418615 + Missense_Mutation SNP T T C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 2418615 2418615 T C SNP PLCH2 ENST00000378486 human ensembl 69_37n +1 known missense c.914 p.F305S 1.000 pfam_PLipase_C_EF-hand-like pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCH2 HGNC ENSG00000149527 60 0 0.00 100 18 15.25 - - - PLIN5 0 genome.wustl.edu 37 19 4529581 4529582 + Frame_Shift_Del DEL TA TA - TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 19 4529581 4529582 TA - DEL PLIN5 ENST00000588887 human ensembl 69_37n -1 putative frame_shift_del c.357_356 p.I119fs 0.001:0.002 NULL pfam_Perilipin - no_stop_codon PLIN5 HGNC ENSG00000214456 27 0 0.00 15 3 16.67 - - - PRC1 0 genome.wustl.edu 37 15 91537757 91537757 + RNA SNP C C G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 15 91537757 91537757 C G SNP PRC1 ENST00000555745 human ensembl 69_37n -1 known rna NULL NULL 0.034 - - - no_errors PRC1 HGNC ENSG00000198901 101 0 0.00 59 33 35.48 - - - PTPRB 0 genome.wustl.edu 37 12 70925902 70925902 + Silent SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 12 70925902 70925902 G A SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known silent c.6417 p.L2139 0.766 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 45 0 0.00 25 39 60.94 - - - PXDNL 0 genome.wustl.edu 37 8 52366254 52366254 + Missense_Mutation SNP G G T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 8 52366254 52366254 G T SNP PXDNL ENST00000356297 human ensembl 69_37n -1 known missense c.1074 p.H358Q 0.119 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDNL HGNC ENSG00000147485 113 0 0.00 153 36 18.95 - - - PYHIN1 0 genome.wustl.edu 37 1 158913631 158913631 + Missense_Mutation SNP A A C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 158913631 158913631 A C SNP PYHIN1 ENST00000368140 human ensembl 69_37n +1 known missense c.1054 p.S352R 0.365 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 32 0 0.00 47 6 11.32 - - - RIMS1 0 genome.wustl.edu 37 6 73110263 73110263 + Missense_Mutation SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 6 73110263 73110263 G C SNP RIMS1 ENST00000521978 human ensembl 69_37n +1 known missense c.4926 p.L1642F 0.439 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 134 0 0.00 94 18 15.93 - - - RP1 0 genome.wustl.edu 37 8 55538327 55538327 + Missense_Mutation SNP G G T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 8 55538327 55538327 G T SNP RP1 ENST00000220676 human ensembl 69_37n +1 known missense c.1885 p.A629S 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 35 0 0.00 47 14 22.95 - - - RPGR 0 genome.wustl.edu 37 X 38145735 38145735 + Silent SNP T T C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 X 38145735 38145735 T C SNP RPGR ENST00000378505 human ensembl 69_37n -1 known silent c.2517 p.E839 0.005 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 9 0 0.00 14 6 30.00 - - - RTL1 0 genome.wustl.edu 37 14 101350112 101350112 + Silent SNP T T A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 14 101350112 101350112 T A SNP RTL1 ENST00000534062 human ensembl 69_37n -1 known silent c.1014 p.L338 0.997 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 37 0 0.00 33 16 32.65 - - - RTN4RL2 0 genome.wustl.edu 37 11 57236242 57236242 + Splice_Site SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 11 57236242 57236242 G A SNP RTN4RL2 ENST00000533205 human ensembl 69_37n +1 putative splice_site c.514-1 e3-1 0.000 - - - no_errors RTN4RL2 HGNC ENSG00000186907 23 0 0.00 25 6 19.35 - - - SELENBP1 0 genome.wustl.edu 37 1 151338791 151338791 + Missense_Mutation SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 151338791 151338791 C T SNP SELENBP1 ENST00000368868 human ensembl 69_37n -1 known missense c.803 p.C268Y 1.000 pfam_Se-bd pfam_Se-bd - no_errors SELENBP1 HGNC ENSG00000143416 65 0 0.00 111 30 21.28 - - - SEMA6A 0 genome.wustl.edu 37 5 115782397 115782397 + Missense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 5 115782397 115782397 C A SNP SEMA6A ENST00000257414 human ensembl 69_37n -1 known missense c.3056 p.R1019L 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6A HGNC ENSG00000092421 76 0 0.00 79 9 10.23 - - - SH3KBP1 0 genome.wustl.edu 37 X 19758883 19758883 + Nonsense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 X 19758883 19758883 C A SNP SH3KBP1 ENST00000431164 human ensembl 69_37n -1 known nonsense c.4 p.E2* 0.018 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_stop_codon:bad_bp_length_for_coding_region SH3KBP1 HGNC ENSG00000147010 39 0 0.00 101 19 15.83 - - - SH3YL1 0 genome.wustl.edu 37 2 247593 247593 + Missense_Mutation SNP G G T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 2 247593 247593 G T SNP SH3YL1 ENST00000356150 human ensembl 69_37n -1 known missense c.236 p.A79E 1.000 NULL pfam_Ysc84_actin-binding,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain - no_errors SH3YL1 HGNC ENSG00000035115 34 0 0.00 36 4 10.00 - - - SHCBP1L 0 genome.wustl.edu 37 1 182908338 182908338 + Missense_Mutation SNP A A T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 182908338 182908338 A T SNP SHCBP1L ENST00000367547 human ensembl 69_37n -1 known missense c.1049 p.L350Q 0.981 NULL superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 20 0 0.00 19 6 24.00 - - - SKA1 0 genome.wustl.edu 37 18 47917634 47917634 + Missense_Mutation SNP T T G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 18 47917634 47917634 T G SNP SKA1 ENST00000285116 human ensembl 69_37n +1 known missense c.590 p.F197C 1.000 pfam_DUF1395 pfam_DUF1395 - no_errors SKA1 HGNC ENSG00000154839 39 0 0.00 38 10 20.83 - - - SLC12A5 0 genome.wustl.edu 37 20 44681599 44681599 + Missense_Mutation SNP T T A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 20 44681599 44681599 T A SNP SLC12A5 ENST00000454036 human ensembl 69_37n +1 known missense c.2450 p.L817Q 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 94 0 0.00 48 36 42.86 - - - SLC25A34 0 genome.wustl.edu 37 1 16063204 16063204 + Missense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 16063204 16063204 C A SNP SLC25A34 ENST00000294454 human ensembl 69_37n +1 known missense c.224 p.A75D 0.734 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A34 HGNC ENSG00000162461 51 0 0.00 41 15 26.79 - - - SLC26A5 0 genome.wustl.edu 37 7 103033383 103033383 + Missense_Mutation SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 7 103033383 103033383 G C SNP SLC26A5 ENST00000306312 human ensembl 69_37n -1 known missense c.1102 p.Q368E 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC ENSG00000170615 110 0 0.00 77 24 23.76 - - - SLC35G5 0 genome.wustl.edu 37 8 11189535 11189535 + Missense_Mutation SNP T T A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 8 11189535 11189535 T A SNP SLC35G5 ENST00000382435 human ensembl 69_37n +1 known missense c.920 p.L307H 0.029 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 152 0 0.00 144 46 20.35 - - - SLC6A10P 0 genome.wustl.edu 37 16 32889080 32889080 + RNA SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 16 32889080 32889080 G C SNP SLC6A10P ENST00000330048 human ensembl 69_37n -1 known rna NULL NULL 0.012 - - - no_errors SLC6A10P HGNC ENSG00000214617 185 0 0.00 139 42 23.20 - - - SLC7A2 0 genome.wustl.edu 37 8 17412146 17412146 + Missense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 8 17412146 17412146 C A SNP SLC7A2 ENST00000004531 human ensembl 69_37n +1 known missense c.1253 p.A418D 1.000 pfam_AA-permease_dom,tigrfam_Cat_AA_permease pfam_AA-permease_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 95 0 0.00 82 40 32.79 - - - SNORD115-2 0 genome.wustl.edu 37 15 25417813 25417813 + RNA SNP A A C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 15 25417813 25417813 A C SNP SNORD115-2 ENST00000362842 human ensembl 69_37n +1 known rna NULL NULL 0.846 - - - no_errors SNORD115-2 HGNC ENSG00000199712 60 0 0.00 61 25 29.07 - - - SPEN 0 genome.wustl.edu 37 1 16254874 16254874 + Silent SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 16254874 16254874 G C SNP SPEN ENST00000375759 human ensembl 69_37n +1 known silent c.2139 p.R713 0.960 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 18 0 0.00 14 10 41.67 - - - SPTBN1 0 genome.wustl.edu 37 2 54872550 54872550 + Missense_Mutation SNP A A G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 2 54872550 54872550 A G SNP SPTBN1 ENST00000356805 human ensembl 69_37n +1 known missense c.4454 p.K1485R 1.000 pirsf_Spectrin_bsu pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 30 0 0.00 44 6 12.00 - - - ST6GALNAC6 0 genome.wustl.edu 37 9 130653249 130653249 + Missense_Mutation SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 9 130653249 130653249 G A SNP ST6GALNAC6 ENST00000291839 human ensembl 69_37n -1 known missense c.371 p.P124L 0.009 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 59 0 0.00 46 17 26.98 - - - SUSD5 0 genome.wustl.edu 37 3 33194613 33194613 + Missense_Mutation SNP T T G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 3 33194613 33194613 T G SNP SUSD5 ENST00000309558 human ensembl 69_37n -1 known missense c.1511 p.K504T 0.000 NULL pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP - no_errors SUSD5 HGNC ENSG00000173705 180 0 0.00 178 63 26.14 - - - TAF1C 0 genome.wustl.edu 37 16 84214789 84214789 + Missense_Mutation SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 16 84214789 84214789 G A SNP TAF1C ENST00000378541 human ensembl 69_37n -1 known missense c.1246 p.P416S 0.961 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 58 0 0.00 47 6 11.32 - - - TBC1D21 0 genome.wustl.edu 37 15 74177162 74177162 + Silent SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 15 74177162 74177162 C A SNP TBC1D21 ENST00000300504 human ensembl 69_37n +1 known silent c.408 p.G136 0.999 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 TBC1D21 HGNC ENSG00000167139 64 0 0.00 38 19 33.33 - - - TMPRSS11A 0 genome.wustl.edu 37 4 68780427 68780427 + Missense_Mutation SNP C C A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 4 68780427 68780427 C A SNP TMPRSS11A ENST00000334830 human ensembl 69_37n -1 known missense c.983 p.R328L 0.991 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 43 0 0.00 37 19 33.93 - - - TP53 0 genome.wustl.edu 37 17 7579363 7579364 + Frame_Shift_Ins INS - - C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 17 7579363 7579364 - C INS TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_ins c.324_323 p.R110fs 0.873:0.910 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 79 0 0.00 36 41 53.25 - - - TPTE2P6 0 genome.wustl.edu 37 13 25160792 25160792 + RNA SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 13 25160792 25160792 G A SNP TPTE2P6 ENST00000440905 human ensembl 69_37n +1 known rna NULL NULL 0.115 - - - no_errors TPTE2P6 HGNC ENSG00000205822 16 0 0.00 6 3 33.33 - - - TRHDE 0 genome.wustl.edu 37 12 72680617 72680617 + Missense_Mutation SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 12 72680617 72680617 G A SNP TRHDE ENST00000547300 human ensembl 69_37n +1 novel missense c.232 p.G78R 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_start_codon:pseudogene:no_stop_codon TRHDE HGNC ENSG00000072657 40 0 0.00 21 24 53.33 - - - TRIM29 0 genome.wustl.edu 37 11 119999152 119999153 + Frame_Shift_Ins INS - - A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 11 119999152 119999153 - A INS TRIM29 ENST00000341846 human ensembl 69_37n -1 known frame_shift_ins c.856_855 p.E285fs 0.994:0.349 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 33 0 0.00 28 16 36.36 - - - TTF2 0 genome.wustl.edu 37 1 117634446 117634446 + Silent SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 117634446 117634446 G A SNP TTF2 ENST00000369466 human ensembl 69_37n +1 known silent c.2679 p.L893 0.569 pfam_SNF2_N pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 64 0 0.00 71 15 17.44 - - - TTLL10-AS1 0 genome.wustl.edu 37 1 1111200 1111200 + RNA SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 1111200 1111200 C T SNP TTLL10-AS1 ENST00000379317 human ensembl 69_37n -1 known rna NULL NULL 0.029 - - - no_errors TTLL10-AS1 HGNC ENSG00000205231 245 1 0.41 165 23 12.17 - - - TWISTNB 0 genome.wustl.edu 37 7 19748564 19748564 + Missense_Mutation SNP G G T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 7 19748564 19748564 G T SNP TWISTNB ENST00000222567 human ensembl 69_37n -1 known missense c.76 p.L26M 0.001 NULL pfam_RNA_pol_Rpb7_N - no_errors TWISTNB HGNC ENSG00000105849 51 0 0.00 40 10 20.00 - - - UBE3B 0 genome.wustl.edu 37 12 109967700 109967700 + Splice_Site SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 12 109967700 109967700 G C SNP UBE3B ENST00000449510 human ensembl 69_37n +1 known splice_site c.2127-1 e19-1 1.000 - - - no_errors UBE3B HGNC ENSG00000151148 49 0 0.00 32 12 27.27 - - - UBQLNL 0 genome.wustl.edu 37 11 5537479 5537479 + Missense_Mutation SNP A A G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 11 5537479 5537479 A G SNP UBQLNL ENST00000380184 human ensembl 69_37n -1 putative missense c.193 p.C65R 0.939 pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 82 0 0.00 75 27 26.47 - - - UHRF1 0 genome.wustl.edu 37 19 4930847 4930847 + RNA SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 19 4930847 4930847 G A SNP UHRF1 ENST00000262952 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors UHRF1 HGNC ENSG00000034063 104 0 0.00 63 11 14.86 - - - USH2A 0 genome.wustl.edu 37 1 215933099 215933099 + Missense_Mutation SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 1 215933099 215933099 C T SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.11134 p.V3712I 0.996 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 48 0 0.00 35 37 51.39 - - - UTP14A 0 genome.wustl.edu 37 X 129042696 129042696 + Missense_Mutation SNP A A G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 X 129042696 129042696 A G SNP UTP14A ENST00000394422 human ensembl 69_37n +1 known missense c.224 p.N75S 0.820 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 78 0 0.00 41 32 43.84 - - - UTRN 0 genome.wustl.edu 37 6 144999560 144999560 + Missense_Mutation SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 6 144999560 144999560 G A SNP UTRN ENST00000367545 human ensembl 69_37n +1 known missense c.7498 p.D2500N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 37 0 0.00 18 3 14.29 - - - WDR7 0 genome.wustl.edu 37 18 54348616 54348616 + Silent SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 18 54348616 54348616 C T SNP WDR7 ENST00000254442 human ensembl 69_37n +1 known silent c.339 p.G113 1.000 superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 81 0 0.00 46 47 50.54 - - - ZNF135 0 genome.wustl.edu 37 19 58571336 58571336 + Splice_Site SNP G G A TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 19 58571336 58571336 G A SNP ZNF135 ENST00000313434 human ensembl 69_37n +1 known splice_site c.1-1 e1-1 0.980 - - - no_errors ZNF135 HGNC ENSG00000176293 185 0 0.00 154 41 21.03 - - - ZNF236 0 genome.wustl.edu 37 18 74583726 74583726 + Silent SNP T T C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 18 74583726 74583726 T C SNP ZNF236 ENST00000253159 human ensembl 69_37n +1 known silent c.606 p.C202 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 50 0 0.00 51 6 10.53 - - - ZNF324 0 genome.wustl.edu 37 19 58981143 58981144 + In_Frame_Ins INS - - ACT TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 19 58981143 58981144 - ACT INS ZNF324 ENST00000196482 human ensembl 69_37n +1 known in_frame_ins c.170_171 p.58in_frame_insL 0.853:0.901 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF324 HGNC ENSG00000083812 64 0 0.00 63 7 10.00 - - - ZNF624 0 genome.wustl.edu 37 17 16525927 16525927 + Missense_Mutation SNP C C T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a3f5f1-86c6-444d-96ed-4865a65e1803 14691103-0cf4-47d2-ad99-f72c5f3de295 17 16525927 16525927 C T SNP ZNF624 ENST00000311331 human ensembl 69_37n -1 known missense c.2273 p.G758E 1.000 pfam_Znf_C2H2,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 ZNF624 HGNC ENSG00000197566 34 0 0.00 49 12 19.67 - - -