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 ABCA5 0 genome.wustl.edu 37 17 67282161 67282161 + Missense_Mutation SNP T T C TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 17 67282161 67282161 T C SNP ABCA5 ENST00000392677 human ensembl 69_37n -1 known missense c.2150 p.Y717C 0.003 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 276 0 0.00 166 44 20.95 - - - ANK3 0 genome.wustl.edu 37 10 61819641 61819641 + Missense_Mutation SNP G G C TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 10 61819641 61819641 G C SNP ANK3 ENST00000355288 human ensembl 69_37n -1 known missense c.2282 p.P761R 1.000 NULL pfam_ZU5,pfam_Death,superfamily_DEATH-like,smart_ZU5,smart_Death,pfscan_Death,pfscan_ZU5 - no_errors ANK3 HGNC ENSG00000151150 124 0 0.00 64 13 16.88 - - - C11orf53 0 genome.wustl.edu 37 11 111156467 111156467 + Silent SNP G G A TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 11 111156467 111156467 G A SNP C11orf53 ENST00000280325 human ensembl 69_37n +1 known silent c.399 p.T133 0.008 NULL NULL - no_errors C11orf53 HGNC ENSG00000150750 52 0 0.00 15 11 42.31 - - - CACNA2D3 0 genome.wustl.edu 37 3 54786629 54786629 + Missense_Mutation SNP C C T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 3 54786629 54786629 C T SNP CACNA2D3 ENST00000288197 human ensembl 69_37n +1 known missense c.1171 p.R391C 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 185 0 0.00 134 34 20.24 - - - CENPE 0 genome.wustl.edu 37 4 104059573 104059573 + Missense_Mutation SNP T T C TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 4 104059573 104059573 T C SNP CENPE ENST00000265148 human ensembl 69_37n -1 known missense c.6238 p.R2080G 0.000 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 553 1 0.18 418 93 18.20 - - - COL4A5 0 genome.wustl.edu 37 X 107814670 107814670 + Missense_Mutation SNP G G T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 X 107814670 107814670 G T SNP COL4A5 ENST00000328300 human ensembl 69_37n +1 known missense c.412 p.G138C 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 290 0 0.00 144 31 17.61 - - - COPS3 0 genome.wustl.edu 37 17 17163709 17163709 + Missense_Mutation SNP T T C TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 17 17163709 17163709 T C SNP COPS3 ENST00000268717 human ensembl 69_37n -1 known missense c.842 p.K281R 1.000 pfam_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors COPS3 HGNC ENSG00000141030 620 1 0.16 544 116 17.58 - - - CPB2 0 genome.wustl.edu 37 13 46629931 46629931 + Silent SNP G G T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 13 46629931 46629931 G T SNP CPB2 ENST00000181383 human ensembl 69_37n -1 known silent c.1053 p.T351 0.007 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 228 0 0.00 28 54 65.85 - - - CRHR1 0 genome.wustl.edu 37 17 43906585 43906585 + Missense_Mutation SNP A A C TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 17 43906585 43906585 A C SNP CRHR1 ENST00000398285 human ensembl 69_37n +1 known missense c.332 p.K111T 1.000 smart_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 126 0 0.00 44 36 45.00 - - - CSMD1 0 genome.wustl.edu 37 8 3057330 3057330 + Missense_Mutation SNP C C T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 8 3057330 3057330 C T SNP CSMD1 ENST00000335551 human ensembl 69_37n -1 novel missense c.3541 p.G1181R 0.632 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSMD1 HGNC ENSG00000183117 79 0 0.00 14 10 41.67 - - - DAP3 0 genome.wustl.edu 37 1 155701787 155701787 + Missense_Mutation SNP C C A TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 1 155701787 155701787 C A SNP DAP3 ENST00000343043 human ensembl 69_37n +1 known missense c.956 p.P319H 0.977 pfam_Ribosomal_S23/S29_mit pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit - no_errors DAP3 HGNC ENSG00000132676 234 0 0.00 305 38 11.08 - - - DKK2 0 genome.wustl.edu 37 4 107845202 107845202 + Missense_Mutation SNP C C T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 4 107845202 107845202 C T SNP DKK2 ENST00000285311 human ensembl 69_37n -1 novel missense c.689 p.R230H 1.000 NULL pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC ENSG00000155011 176 0 0.00 87 69 44.23 - - - DNHD1 0 genome.wustl.edu 37 11 6561187 6561187 + Missense_Mutation SNP C C T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 11 6561187 6561187 C T SNP DNHD1 ENST00000254579 human ensembl 69_37n +1 known missense c.3502 p.R1168C 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 48 0 0.00 52 19 26.76 - - - DUOX1 0 genome.wustl.edu 37 15 45444508 45444508 + Missense_Mutation SNP C C T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 15 45444508 45444508 C T SNP DUOX1 ENST00000321429 human ensembl 69_37n +1 known missense c.3218 p.T1073M 0.001 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 125 0 0.00 111 22 16.54 - - - GATA3 0 genome.wustl.edu 37 10 8115873 8115874 + Frame_Shift_Ins INS - - C TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 10 8115873 8115874 - C INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1222_1223 p.P409fs 0.876:0.903 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 120 0 0.00 124 52 29.55 - - - GNG5P2 0 genome.wustl.edu 37 X 109590120 109590120 + Silent SNP G G A TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 X 109590120 109590120 G A SNP GNG5P2 ENST00000372054 human ensembl 69_37n -1 known silent c.18 p.S6 0.998 superfamily_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,prints_Gprotein-gamma,pfscan_G-protein_gamma-like_dom - no_errors GNG5P2 HGNC ENSG00000133136 33 0 0.00 43 9 17.31 - - - GOLGA1 0 genome.wustl.edu 37 9 127683437 127683437 + Missense_Mutation SNP T T C TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 9 127683437 127683437 T C SNP GOLGA1 ENST00000373555 human ensembl 69_37n -1 known missense c.814 p.I272V 0.988 NULL pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 581 0 0.00 426 166 28.04 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23684997 23684998 + Frame_Shift_Ins INS - - G TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 15 23684997 23684998 - G INS GOLGA6L2 ENST00000345070 human ensembl 69_37n -1 known frame_shift_ins c.840_839 p.E280fs 0.001:0.001 NULL prints_Tropomyosin - no_errors GOLGA6L2 HGNC ENSG00000174450 11 0 0.00 6 3 33.33 - - - GPR84 0 genome.wustl.edu 37 12 54757355 54757355 + Missense_Mutation SNP C C A TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 12 54757355 54757355 C A SNP GPR84 ENST00000267015 human ensembl 69_37n -1 known missense c.281 p.R94M 0.991 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR84 HGNC ENSG00000139572 238 1 0.42 236 50 17.48 - - - GUF1 0 genome.wustl.edu 37 4 44682858 44682858 + Missense_Mutation SNP C C G TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 4 44682858 44682858 C G SNP GUF1 ENST00000281543 human ensembl 69_37n +1 known missense c.425 p.P142R 1.000 pfam_ProtSyn_GTP-bd,pfam_Small_GTPase,prints_ProtSyn_GTP-bd,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom pfam_ProtSyn_GTP-bd,pfam_LepA_GTP-bd_C,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC ENSG00000151806 209 0 0.00 74 50 40.32 - - - HFE 0 genome.wustl.edu 37 6 26093039 26093039 + Missense_Mutation SNP C C G TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 6 26093039 26093039 C G SNP HFE ENST00000357618 human ensembl 69_37n +1 known missense c.743 p.A248G 0.741 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,prints_MHC_I_a_a1/a2,pfscan_Ig-like - no_errors HFE HGNC ENSG00000010704 222 0 0.00 135 32 19.05 - - - HNRPLL 0 genome.wustl.edu 37 2 38795342 38795342 + Missense_Mutation SNP C C G TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 2 38795342 38795342 C G SNP HNRPLL ENST00000441689 human ensembl 69_37n -1 putative missense c.391 p.E131Q 0.997 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HNRPLL HGNC ENSG00000143889 364 0 0.00 93 144 60.25 - - - HRNR 0 genome.wustl.edu 37 1 152186490 152186490 + Missense_Mutation SNP C C T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 1 152186490 152186490 C T SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.7615 p.G2539S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 9 0 0.00 15 11 42.31 - - - KBTBD4 0 genome.wustl.edu 37 11 47594816 47594816 + Missense_Mutation SNP T T C TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 11 47594816 47594816 T C SNP KBTBD4 ENST00000430070 human ensembl 69_37n -1 known missense c.1271 p.D424G 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 146 0 0.00 66 19 22.35 - - - LARP1 0 genome.wustl.edu 37 5 154181757 154181757 + Missense_Mutation SNP A A T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 5 154181757 154181757 A T SNP LARP1 ENST00000336314 human ensembl 69_37n +1 known missense c.1676 p.D559V 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 208 0 0.00 183 81 30.68 - - - LGALS3BP 0 genome.wustl.edu 37 17 76968195 76968195 + Silent SNP C C T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 17 76968195 76968195 C T SNP LGALS3BP ENST00000262776 human ensembl 69_37n -1 known silent c.1221 p.R407 0.421 NULL pfam_Srcr_rcpt,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,prints_Srcr_rcpt,pfscan_BTB/POZ-like,pfscan_Srcr_rcpt - no_errors LGALS3BP HGNC ENSG00000108679 105 0 0.00 489 129 20.81 - - - LRP6 0 genome.wustl.edu 37 12 12397348 12397348 + Silent SNP C C T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 12 12397348 12397348 C T SNP LRP6 ENST00000261349 human ensembl 69_37n -1 known silent c.297 p.G99 0.876 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 227 0 0.00 147 25 14.53 - - - MIS18BP1 0 genome.wustl.edu 37 14 45693721 45693722 + Frame_Shift_Ins INS - - T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 14 45693721 45693722 - T INS MIS18BP1 ENST00000310806 human ensembl 69_37n -1 known frame_shift_ins c.2069_2068 p.S690fs 0.004:0.797 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 105 0 0.00 53 7 11.67 - - - MYO6 0 genome.wustl.edu 37 6 76554660 76554663 + Frame_Shift_Del DEL ACAA ACAA - TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 6 76554660 76554663 ACAA - DEL MYO6 ENST00000369981 human ensembl 69_37n +1 known frame_shift_del c.863_866 p.K289fs 1.000:1.000:1.000:1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 248 0 0.00 131 62 32.12 - - - NEIL1 0 genome.wustl.edu 37 15 75647144 75647144 + Nonsense_Mutation SNP C C T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 15 75647144 75647144 C T SNP NEIL1 ENST00000355059 human ensembl 69_37n +1 known nonsense c.1087 p.R363* 0.000 NULL pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL1 HGNC ENSG00000140398 29 0 0.00 26 6 18.18 - - - NR1H2 0 genome.wustl.edu 37 19 50881600 50881600 + Missense_Mutation SNP C C T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 19 50881600 50881600 C T SNP NR1H2 ENST00000253727 human ensembl 69_37n +1 known missense c.376 p.R126W 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 24 0 0.00 13 10 43.48 - - - NTNG2 0 genome.wustl.edu 37 9 135073814 135073814 + Silent SNP C C T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 9 135073814 135073814 C T SNP NTNG2 ENST00000360670 human ensembl 69_37n +1 known silent c.675 p.P225 0.040 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 11 0 0.00 6 9 60.00 - - - OR6B3 0 genome.wustl.edu 37 2 240984860 240984860 + Silent SNP T T C TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 2 240984860 240984860 T C SNP OR6B3 ENST00000319423 human ensembl 69_37n -1 known silent c.630 p.P210 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6B3 HGNC ENSG00000178586 138 1 0.72 83 52 38.52 - - - OR6C70 0 genome.wustl.edu 37 12 55863307 55863307 + Missense_Mutation SNP T T C TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 12 55863307 55863307 T C SNP OR6C70 ENST00000327335 human ensembl 69_37n -1 known missense c.616 p.I206V 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6C70 HGNC ENSG00000184954 166 0 0.00 103 24 18.90 - - - OR8D4 0 genome.wustl.edu 37 11 123777212 123777212 + Missense_Mutation SNP T T G TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 11 123777212 123777212 T G SNP OR8D4 ENST00000321355 human ensembl 69_37n +1 known missense c.74 p.L25R 0.678 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 329 0 0.00 44 63 58.88 - - - PCDH19 0 genome.wustl.edu 37 X 99663201 99663201 + Missense_Mutation SNP G G T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 X 99663201 99663201 G T SNP PCDH19 ENST00000373034 human ensembl 69_37n -1 known missense c.395 p.A132E 0.230 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 101 1 0.98 115 33 22.30 - - - PELP1 0 genome.wustl.edu 37 17 4576281 4576281 + Missense_Mutation SNP C C A TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 17 4576281 4576281 C A SNP PELP1 ENST00000301396 human ensembl 69_37n -1 known missense c.2437 p.G813C 0.374 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 50 0 0.00 24 37 60.66 - - - PITPNM2 0 genome.wustl.edu 37 12 123498580 123498580 + Missense_Mutation SNP G G A TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 12 123498580 123498580 G A SNP PITPNM2 ENST00000320201 human ensembl 69_37n -1 known missense c.88 p.R30C 1.000 pfam_PI_transfer,prints_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 59 0 0.00 29 9 23.08 - - - PPAT 0 genome.wustl.edu 37 4 57272683 57272683 + Missense_Mutation SNP T T C TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 4 57272683 57272683 T C SNP PPAT ENST00000264220 human ensembl 69_37n -1 known missense c.380 p.N127S 1.000 pfam_GATase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans pfam_GATase_dom,pfam_PRibTrfase,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans - no_errors PPAT HGNC ENSG00000128059 224 0 0.00 175 28 13.79 - - - PPP3R2 0 genome.wustl.edu 37 9 104356697 104356697 + Silent SNP G G A TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 9 104356697 104356697 G A SNP PPP3R2 ENST00000374806 human ensembl 69_37n -1 known silent c.516 p.I172 0.002 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,prints_Parvalbumin,pfscan_EF_HAND_2 - no_errors PPP3R2 HGNC ENSG00000188386 59 0 0.00 42 9 17.65 - - - PRUNE2 0 genome.wustl.edu 37 9 79320728 79320728 + Missense_Mutation SNP G G A TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 9 79320728 79320728 G A SNP PRUNE2 ENST00000426088 human ensembl 69_37n -1 known missense c.4426 p.P1476S 0.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PRUNE2 HGNC ENSG00000106772 166 1 0.60 148 28 15.91 - - - PSTK 0 genome.wustl.edu 37 10 124742808 124742809 + Frame_Shift_Del DEL CT CT - TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 10 124742808 124742809 CT - DEL PSTK ENST00000368887 human ensembl 69_37n +1 known frame_shift_del c.529_530 p.L179fs 0.993:1.000 pfam_Chromatin_KTI12,tigrfam_L-seryl-tRNA_Sec_kinase_euk pfam_Chromatin_KTI12,tigrfam_L-seryl-tRNA_Sec_kinase_euk - no_errors PSTK HGNC ENSG00000179988 244 0 0.00 101 23 18.25 - - - PTPRB 0 genome.wustl.edu 37 12 70933795 70933795 + Nonsense_Mutation SNP G G A TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 12 70933795 70933795 G A SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known nonsense c.5602 p.R1868* 0.871 NULL 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 204 0 0.00 439 74 14.40 - - - PTPRJ 0 genome.wustl.edu 37 11 48164480 48164480 + Missense_Mutation SNP C C G TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 11 48164480 48164480 C G SNP PTPRJ ENST00000418331 human ensembl 69_37n +1 known missense c.2453 p.P818R 0.003 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 124 0 0.00 62 22 26.19 - - - PTPRQ 0 genome.wustl.edu 37 12 80935456 80935456 + Nonsense_Mutation SNP C C T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 12 80935456 80935456 C T SNP PTPRQ ENST00000266688 human ensembl 69_37n +1 known nonsense c.3265 p.Q1089* 0.994 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 185 0 0.00 151 52 25.62 - - - PYHIN1 0 genome.wustl.edu 37 1 158913619 158913619 + Missense_Mutation SNP G G T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 1 158913619 158913619 G T SNP PYHIN1 ENST00000368140 human ensembl 69_37n +1 known missense c.1042 p.D348Y 0.018 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 182 0 0.00 94 128 57.66 - - - ROM1 0 genome.wustl.edu 37 11 62381084 62381084 + Frame_Shift_Del DEL G G - TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 11 62381084 62381084 G - DEL ROM1 ENST00000278833 human ensembl 69_37n +1 known frame_shift_del c.331 p.L114fs 0.023 pfam_Tetraspanin/Peripherin,prints_Peripherin/rom-1 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors ROM1 HGNC ENSG00000149489 29 0 0.00 34 5 12.82 - - - SMURF2 0 genome.wustl.edu 37 17 62553744 62553745 + Frame_Shift_Del DEL AG AG - TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 17 62553744 62553745 AG - DEL SMURF2 ENST00000262435 human ensembl 69_37n -1 known frame_shift_del c.1413_1412 p.P471fs 0.990:1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors SMURF2 HGNC ENSG00000108854 177 0 0.00 304 46 13.03 - - - SRPR 0 genome.wustl.edu 37 11 126134994 126134994 + Missense_Mutation SNP A A G TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 11 126134994 126134994 A G SNP SRPR ENST00000332118 human ensembl 69_37n -1 known missense c.1385 p.V462A 1.000 pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase - no_errors SRPR HGNC ENSG00000182934 133 0 0.00 68 23 25.27 - - - TAF1L 0 genome.wustl.edu 37 9 32632815 32632815 + Silent SNP G G T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 9 32632815 32632815 G T SNP TAF1L ENST00000242310 human ensembl 69_37n -1 known silent c.2763 p.G921 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 570 0 0.00 387 76 16.41 - - - TANC2 0 genome.wustl.edu 37 17 61428682 61428682 + Missense_Mutation SNP G G T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 17 61428682 61428682 G T SNP TANC2 ENST00000424789 human ensembl 69_37n +1 known missense c.1657 p.D553Y 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 295 0 0.00 164 25 13.23 - - - TMTC4 0 genome.wustl.edu 37 13 101278370 101278370 + Missense_Mutation SNP T T G TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 13 101278370 101278370 T G SNP TMTC4 ENST00000342624 human ensembl 69_37n -1 known missense c.1541 p.K514T 0.965 pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 160 0 0.00 93 93 50.00 - - - TMX4 0 genome.wustl.edu 37 20 8000123 8000123 + Missense_Mutation SNP G G C TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 20 8000123 8000123 G C SNP TMX4 ENST00000246024 human ensembl 69_37n -1 known missense c.138 p.N46K 1.000 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX4 HGNC ENSG00000125827 14 0 0.00 13 5 27.78 - - - TRIM25 0 genome.wustl.edu 37 17 54978817 54978817 + Missense_Mutation SNP C C G TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 17 54978817 54978817 C G SNP TRIM25 ENST00000316881 human ensembl 69_37n -1 known missense c.1050 p.Q350H 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors TRIM25 HGNC ENSG00000121060 386 0 0.00 776 195 20.06 - - - TRRAP 0 genome.wustl.edu 37 7 98528431 98528431 + Missense_Mutation SNP T T A TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 7 98528431 98528431 T A SNP TRRAP ENST00000359863 human ensembl 69_37n +1 known missense c.3569 p.V1190D 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 320 1 0.31 195 124 38.87 - - - TTF1 0 genome.wustl.edu 37 9 135273709 135273709 + Silent SNP G G A TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 9 135273709 135273709 G A SNP TTF1 ENST00000334270 human ensembl 69_37n -1 known silent c.1596 p.V532 0.007 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 229 1 0.43 168 37 18.05 - - - WBP4 0 genome.wustl.edu 37 13 41639395 41639395 + Missense_Mutation SNP G G T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 13 41639395 41639395 G T SNP WBP4 ENST00000379487 human ensembl 69_37n +1 known missense c.234 p.E78D 1.000 NULL pfam_WW_Rsp5_WWP,pfam_Znf_U1-C,superfamily_WW_Rsp5_WWP,smart_Znf_U1,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,pfscan_Znf_C2H2_matrin - no_errors WBP4 HGNC ENSG00000120688 100 1 0.99 40 19 32.20 - - - WWOX 0 genome.wustl.edu 37 16 78466448 78466448 + Silent SNP C C T TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 16 78466448 78466448 C T SNP WWOX ENST00000566780 human ensembl 69_37n +1 known silent c.855 p.N285 0.000 NULL pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 188 0 0.00 116 24 17.14 - - - ZSCAN5C 0 genome.wustl.edu 37 19 56720339 56720339 + Missense_Mutation SNP T T G TCGA-C8-A12M-01A-11D-A135-09 TCGA-C8-A12M-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9a0a7b93-da6e-45b7-9a6f-190d79552b49 5f9aae0c-1d2f-4bb2-b801-32478f7058a2 19 56720339 56720339 T G SNP ZSCAN5C ENST00000376267 human ensembl 69_37n +1 known missense c.1261 p.F421V 0.692 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5C HGNC ENSG00000204532 140 0 0.00 107 29 21.32 - - -