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 AARS2 0 genome.wustl.edu 37 6 44274104 44274104 + Missense_Mutation SNP C C T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 6 44274104 44274104 C T SNP AARS2 ENST00000244571 human ensembl 69_37n -1 known missense c.1213 p.E405K 1.000 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-synth_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc - no_errors AARS2 HGNC ENSG00000124608 67 0 0.00 63 8 11.27 - - - ACSS2 0 genome.wustl.edu 37 20 33501263 33501263 + Silent SNP G G C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 20 33501263 33501263 G C SNP ACSS2 ENST00000360596 human ensembl 69_37n +1 known silent c.534 p.L178 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig - no_errors ACSS2 HGNC ENSG00000131069 62 0 0.00 83 21 20.19 - - - ACSS2 0 genome.wustl.edu 37 20 33501264 33501264 + Missense_Mutation SNP G G T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 20 33501264 33501264 G T SNP ACSS2 ENST00000360596 human ensembl 69_37n +1 known missense c.535 p.A179S 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig - no_errors ACSS2 HGNC ENSG00000131069 63 0 0.00 83 20 19.42 - - - ACTL9 0 genome.wustl.edu 37 19 8808499 8808499 + Missense_Mutation SNP C C G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 19 8808499 8808499 C G SNP ACTL9 ENST00000324436 human ensembl 69_37n -1 known missense c.553 p.V185L 0.973 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL9 HGNC ENSG00000181786 26 0 0.00 24 9 27.27 - - - ADAMTSL1 0 genome.wustl.edu 37 9 18829873 18829873 + Missense_Mutation SNP A A T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 9 18829873 18829873 A T SNP ADAMTSL1 ENST00000388710 human ensembl 69_37n +1 known missense c.250 p.I84F 0.996 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors ADAMTSL1 HGNC ENSG00000178031 123 0 0.00 105 13 11.02 - - - AGXT2L1 0 genome.wustl.edu 37 4 109672126 109672126 + Missense_Mutation SNP T T A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 4 109672126 109672126 T A SNP AGXT2L1 ENST00000296486 human ensembl 69_37n -1 known missense c.667 p.I223F 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L1 HGNC ENSG00000164089 53 0 0.00 43 12 21.82 - - - ATG4D 0 genome.wustl.edu 37 19 10659619 10659619 + Missense_Mutation SNP A A T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 19 10659619 10659619 A T SNP ATG4D ENST00000309469 human ensembl 69_37n +1 known missense c.875 p.D292V 1.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4D HGNC ENSG00000130734 81 0 0.00 51 16 23.19 - - - ATN1 0 genome.wustl.edu 37 12 7045891 7045892 + In_Frame_Ins INS - - CAG TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 12 7045891 7045892 - CAG INS ATN1 ENST00000356654 human ensembl 69_37n +1 known in_frame_ins c.1461_1462 p.491in_frame_insQ 0.002:0.834 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 26 0 0.00 39 5 11.36 - - - AURKB 0 genome.wustl.edu 37 17 8110509 8110509 + Missense_Mutation SNP A A G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 17 8110509 8110509 A G SNP AURKB ENST00000585124 human ensembl 69_37n -1 known missense c.383 p.I128T 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AURKB HGNC ENSG00000178999 71 0 0.00 34 10 22.73 - - - BAI3 0 genome.wustl.edu 37 6 69348974 69348974 + Missense_Mutation SNP C C A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 6 69348974 69348974 C A SNP BAI3 ENST00000370598 human ensembl 69_37n +1 known missense c.407 p.T136N 0.467 pfscan_CUB pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 26 0 0.00 41 6 12.50 - - - C10orf71 0 genome.wustl.edu 37 10 50530920 50530920 + Missense_Mutation SNP A A C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 10 50530920 50530920 A C SNP C10orf71 ENST00000374144 human ensembl 69_37n +1 known missense c.330 p.E110D 0.001 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 70 0 0.00 65 14 17.72 - - - C11orf63 0 genome.wustl.edu 37 11 122756780 122756780 + Missense_Mutation SNP G G C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 11 122756780 122756780 G C SNP C11orf63 ENST00000227349 human ensembl 69_37n +1 known missense c.223 p.D75H 1.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 46 0 0.00 44 7 13.73 - - - C14orf166B 0 genome.wustl.edu 37 14 77323744 77323744 + Missense_Mutation SNP A A G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 14 77323744 77323744 A G SNP C14orf166B ENST00000393774 human ensembl 69_37n +1 known missense c.1030 p.M344V 0.528 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors C14orf166B HGNC ENSG00000100565 100 0 0.00 62 16 20.25 - - - C2orf71 0 genome.wustl.edu 37 2 29294367 29294367 + Missense_Mutation SNP C C A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 2 29294367 29294367 C A SNP C2orf71 ENST00000331664 human ensembl 69_37n -1 novel missense c.2761 p.A921S 0.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 12 0 0.00 28 7 20.00 - - - C7orf63 0 genome.wustl.edu 37 7 89939392 89939392 + Nonsense_Mutation SNP G G A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 7 89939392 89939392 G A SNP C7orf63 ENST00000412839 human ensembl 69_37n +1 novel nonsense c.351 p.W117* 0.955 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C7orf63 HGNC ENSG00000105792 106 0 0.00 82 13 13.68 - - - CCDC88C 0 genome.wustl.edu 37 14 91810002 91810002 + Splice_Site SNP C C G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 14 91810002 91810002 C G SNP CCDC88C ENST00000389857 human ensembl 69_37n -1 known splice_site c.341-1 e5-1 1.000 - - - no_errors CCDC88C HGNC ENSG00000015133 63 0 0.00 49 19 27.94 - - - CD163L1 0 genome.wustl.edu 37 12 7548822 7548822 + Missense_Mutation SNP G G C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 12 7548822 7548822 G C SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known missense c.1919 p.T640R 0.002 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 101 0 0.00 54 14 20.59 - - - CDC14A 0 genome.wustl.edu 37 1 100961587 100961587 + Missense_Mutation SNP C C A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 1 100961587 100961587 C A SNP CDC14A ENST00000361544 human ensembl 69_37n +1 known missense c.1280 p.A427E 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 128 0 0.00 79 36 31.30 - - - CDC42BPA 0 genome.wustl.edu 37 1 227288919 227288919 + Missense_Mutation SNP G G T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 1 227288919 227288919 G T SNP CDC42BPA ENST00000334218 human ensembl 69_37n -1 known missense c.2023 p.P675T 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC ENSG00000143776 83 0 0.00 100 14 12.28 - - - COL14A1 0 genome.wustl.edu 37 8 121290407 121290407 + Frame_Shift_Del DEL A A - TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 8 121290407 121290407 A - DEL COL14A1 ENST00000297848 human ensembl 69_37n +1 known frame_shift_del c.3271 p.T1092fs 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 85 0 0.00 90 13 12.62 - - - COL7A1 0 genome.wustl.edu 37 3 48629805 48629805 + Missense_Mutation SNP C C A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 3 48629805 48629805 C A SNP COL7A1 ENST00000328333 human ensembl 69_37n -1 known missense c.1072 p.V358L 0.595 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 10 0 0.00 13 5 27.78 - - - CPAMD8 0 genome.wustl.edu 37 19 17039931 17039931 + Missense_Mutation SNP A A T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 19 17039931 17039931 A T SNP CPAMD8 ENST00000291440 human ensembl 69_37n -1 known missense c.3106 p.S1036T 0.482 pfam_Methyltransf_FA pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC ENSG00000160111 44 0 0.00 51 8 13.56 - - - CROCCP2 0 genome.wustl.edu 37 1 16950889 16950889 + RNA SNP G G A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 1 16950889 16950889 G A SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.470 - - - no_errors CROCCP2 HGNC ENSG00000215908 13 0 0.00 36 12 25.00 - - - CTPS2 0 genome.wustl.edu 37 X 16711263 16711263 + Splice_Site SNP C C G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 X 16711263 16711263 C G SNP CTPS2 ENST00000359276 human ensembl 69_37n -1 known splice_site c.639+1 e5+1 1.000 - - - no_errors CTPS2 HGNC ENSG00000047230 91 0 0.00 51 17 25.00 - - - DAB1 0 genome.wustl.edu 37 1 57491653 57491654 + Frame_Shift_Ins INS - - G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 1 57491653 57491654 - G INS DAB1 ENST00000371231 human ensembl 69_37n -1 known frame_shift_ins c.886_885 p.T295fs 0.996:0.070 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors DAB1 HGNC ENSG00000173406 51 0 0.00 35 10 22.22 - - - DCHS1 0 genome.wustl.edu 37 11 6643297 6643297 + Missense_Mutation SNP G G C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 11 6643297 6643297 G C SNP DCHS1 ENST00000299441 human ensembl 69_37n -1 known missense c.9610 p.L3204V 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 59 0 0.00 49 7 12.07 - - - DENND3 0 genome.wustl.edu 37 8 142161849 142161849 + Missense_Mutation SNP C C T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 8 142161849 142161849 C T SNP DENND3 ENST00000518668 human ensembl 69_37n +1 novel missense c.916 p.P306S 0.980 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DENND3 HGNC ENSG00000105339 63 0 0.00 119 19 13.77 - - - DNAH10 0 genome.wustl.edu 37 12 124343746 124343746 + Missense_Mutation SNP C C T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 12 124343746 124343746 C T SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.6326 p.T2109M 0.998 smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 54 0 0.00 37 16 30.19 - - - DNAH10 0 genome.wustl.edu 37 12 124418005 124418005 + Missense_Mutation SNP C C T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 12 124418005 124418005 C T SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.13070 p.T4357I 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 13 0 0.00 16 6 27.27 - - - EPT1 0 genome.wustl.edu 37 2 26587746 26587746 + Missense_Mutation SNP T T C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 2 26587746 26587746 T C SNP EPT1 ENST00000442141 human ensembl 69_37n +1 known missense c.77 p.F26S 1.000 pfam_CDP-OH_P_trans pfam_CDP-OH_P_trans - no_stop_codon EPT1 HGNC ENSG00000138018 126 0 0.00 204 37 15.35 - - - EVI2B 0 genome.wustl.edu 37 17 29632390 29632390 + Missense_Mutation SNP G G T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 17 29632390 29632390 G T SNP EVI2B ENST00000544462 human ensembl 69_37n -1 known missense c.283 p.Q95K 0.018 NULL NULL - no_errors EVI2B HGNC ENSG00000185862 402 4 0.99 198 113 36.22 - - - FAM157B 0 genome.wustl.edu 37 9 141107536 141107537 + RNA INS - - GCA TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 9 141107536 141107537 - GCA INS FAM157B ENST00000446912 human ensembl 69_37n +1 known rna NULL NULL 0.033:0.036 - - - no_errors FAM157B HGNC ENSG00000233013 29 0 0.00 58 38 39.58 - - - FAM5C 0 genome.wustl.edu 37 1 190067803 190067803 + Missense_Mutation SNP A A T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 1 190067803 190067803 A T SNP FAM5C ENST00000367462 human ensembl 69_37n -1 known missense c.1646 p.M549K 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC ENSG00000162670 61 0 0.00 81 16 16.49 - - - FGFR2 0 genome.wustl.edu 37 10 123258034 123258034 + Missense_Mutation SNP A A T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 10 123258034 123258034 A T SNP FGFR2 ENST00000457416 human ensembl 69_37n -1 known missense c.1650 p.N550K 1.000 pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR2 HGNC ENSG00000066468 193 0 0.00 130 41 23.84 - - - FLG 0 genome.wustl.edu 37 1 152275600 152275600 + Missense_Mutation SNP T T C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 1 152275600 152275600 T C SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.11762 p.D3921G 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 134 0 0.00 139 23 14.20 - - - GNL1 0 genome.wustl.edu 37 6 30513924 30513924 + Silent SNP C C T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 6 30513924 30513924 C T SNP GNL1 ENST00000376621 human ensembl 69_37n -1 known silent c.1749 p.E583 1.000 NULL pfam_GTP_binding_domain - no_errors GNL1 HGNC ENSG00000204590 62 0 0.00 92 23 20.00 - - - HMCN1 0 genome.wustl.edu 37 1 186122990 186122990 + Missense_Mutation SNP G G A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 1 186122990 186122990 G A SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.15127 p.V5043I 0.223 pfam_G2_nidogen/fibulin_G2F,superfamily_Green_fluorescent_prot-like,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 104 0 0.00 80 20 20.00 - - - HS6ST2 0 genome.wustl.edu 37 X 131762777 131762777 + Missense_Mutation SNP A A C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 X 131762777 131762777 A C SNP HS6ST2 ENST00000521489 human ensembl 69_37n -1 known missense c.1412 p.F471C 0.975 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST2 HGNC ENSG00000171004 78 0 0.00 53 21 28.38 - - - HSD17B6 0 genome.wustl.edu 37 12 57167880 57167880 + Missense_Mutation SNP C C G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 12 57167880 57167880 C G SNP HSD17B6 ENST00000322165 human ensembl 69_37n +1 known missense c.244 p.L82V 0.996 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B6 HGNC ENSG00000025423 39 0 0.00 74 13 14.94 - - - HTR3B 0 genome.wustl.edu 37 11 113815320 113815320 + Missense_Mutation SNP C C T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 11 113815320 113815320 C T SNP HTR3B ENST00000543092 human ensembl 69_37n +1 putative missense c.508 p.L170F 0.995 NULL pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_5HT3_rcpt_A,prints_Neur_channel - pseudogene:no_stop_codon:bad_bp_length_for_coding_region HTR3B HGNC ENSG00000149305 235 0 0.00 161 32 16.58 - - - IFT122 0 genome.wustl.edu 37 3 129195606 129195606 + Missense_Mutation SNP C C G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 3 129195606 129195606 C G SNP IFT122 ENST00000296266 human ensembl 69_37n +1 known missense c.1262 p.T421S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 51 0 0.00 73 9 10.98 - - - IL13RA2 0 genome.wustl.edu 37 X 114242525 114242525 + Missense_Mutation SNP T T C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 X 114242525 114242525 T C SNP IL13RA2 ENST00000243213 human ensembl 69_37n -1 known missense c.967 p.S323G 1.000 superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 380 0 0.00 209 65 23.72 - - - IL18BP 0 genome.wustl.edu 37 11 71712371 71712371 + Splice_Site SNP G G C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 11 71712371 71712371 G C SNP IL18BP ENST00000260049 human ensembl 69_37n +1 known splice_site c.359+1 e3+1 1.000 - - - no_errors IL18BP HGNC ENSG00000137496 46 0 0.00 46 7 13.21 - - - ITIH1 0 genome.wustl.edu 37 3 52822303 52822303 + Missense_Mutation SNP C C T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 3 52822303 52822303 C T SNP ITIH1 ENST00000542827 human ensembl 69_37n +1 known missense c.1924 p.L642F 1.000 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 127 0 0.00 72 12 14.29 - - - KCNJ15 0 genome.wustl.edu 37 21 39671727 39671727 + Missense_Mutation SNP C C A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 21 39671727 39671727 C A SNP KCNJ15 ENST00000328656 human ensembl 69_37n +1 known missense c.544 p.H182N 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 30 0 0.00 19 9 32.14 - - - KCNN3 0 genome.wustl.edu 37 1 154841911 154841911 + Missense_Mutation SNP G G T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 1 154841911 154841911 G T SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known missense c.530 p.S177Y 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 25 0 0.00 72 12 14.29 - - - KIAA0586 0 genome.wustl.edu 37 14 58925191 58925191 + Silent SNP A A G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 14 58925191 58925191 A G SNP KIAA0586 ENST00000556134 human ensembl 69_37n +1 known silent c.1539 p.R513 0.998 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 34 0 0.00 35 8 18.60 - - - KIAA1324L 0 genome.wustl.edu 37 7 86537782 86537782 + Missense_Mutation SNP C C A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 7 86537782 86537782 C A SNP KIAA1324L ENST00000450689 human ensembl 69_37n -1 known missense c.2437 p.D813Y 1.000 superfamily_Man6P_isomerase_rcpt-bd_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt - no_errors KIAA1324L HGNC ENSG00000164659 188 0 0.00 121 40 24.84 - - - KRT31 0 genome.wustl.edu 37 17 39550341 39550341 + Missense_Mutation SNP C C G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 17 39550341 39550341 C G SNP KRT31 ENST00000251645 human ensembl 69_37n -1 known missense c.1178 p.C393S 0.977 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC ENSG00000094796 94 0 0.00 91 14 13.33 - - - KRTAP15-1 0 genome.wustl.edu 37 21 31812853 31812853 + Missense_Mutation SNP T T A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 21 31812853 31812853 T A SNP KRTAP15-1 ENST00000334067 human ensembl 69_37n +1 known missense c.208 p.S70T 0.000 pfam_PMG pfam_PMG - no_errors KRTAP15-1 HGNC ENSG00000186970 62 0 0.00 40 19 32.20 - - - KRTAP5-8 0 genome.wustl.edu 37 11 71249117 71249118 + In_Frame_Ins INS - - CCG TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 11 71249117 71249118 - CCG INS KRTAP5-8 ENST00000398534 human ensembl 69_37n +1 known in_frame_ins c.16_17 p.C6in_frame_insSG 0.913:0.882 NULL NULL - no_errors KRTAP5-8 HGNC ENSG00000241233 53 0 0.00 56 7 11.11 - - - LAMC1 0 genome.wustl.edu 37 1 182993128 182993128 + Missense_Mutation SNP G G A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 1 182993128 182993128 G A SNP LAMC1 ENST00000258341 human ensembl 69_37n +1 known missense c.277 p.D93N 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 8 0 0.00 15 21 58.33 - - - LILRB1 0 genome.wustl.edu 37 19 55147063 55147063 + RNA SNP G G A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 19 55147063 55147063 G A SNP LILRB1 ENST00000462628 human ensembl 69_37n +1 known rna NULL NULL 0.485 - - - no_errors LILRB1 HGNC ENSG00000104972 50 0 0.00 51 12 19.05 - - - LINC00200 0 genome.wustl.edu 37 10 1208497 1208497 + RNA SNP G G T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 10 1208497 1208497 G T SNP LINC00200 ENST00000425630 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors LINC00200 HGNC ENSG00000229205 61 0 0.00 47 15 24.19 - - - LLGL2 0 genome.wustl.edu 37 17 73555430 73555430 + Missense_Mutation SNP C C G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 17 73555430 73555430 C G SNP LLGL2 ENST00000392550 human ensembl 69_37n +1 known missense c.469 p.Q157E 1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 63 0 0.00 81 9 10.00 - - - LNX1 0 genome.wustl.edu 37 4 54362419 54362419 + Missense_Mutation SNP C C G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 4 54362419 54362419 C G SNP LNX1 ENST00000263925 human ensembl 69_37n -1 known missense c.1121 p.R374T 0.080 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 82 0 0.00 47 14 22.95 - - - MDGA2 0 genome.wustl.edu 37 14 47687332 47687332 + Missense_Mutation SNP T T A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 14 47687332 47687332 T A SNP MDGA2 ENST00000399232 human ensembl 69_37n -1 known missense c.487 p.T163S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC ENSG00000139915 100 0 0.00 101 22 17.74 - - - MDN1 0 genome.wustl.edu 37 6 90390438 90390438 + Frame_Shift_Del DEL A A - TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 6 90390438 90390438 A - DEL MDN1 ENST00000369393 human ensembl 69_37n -1 known frame_shift_del c.12135 p.P4046fs 0.001 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 58 0 0.00 24 14 36.84 - - - MXRA5 0 genome.wustl.edu 37 X 3228241 3228241 + Missense_Mutation SNP C C T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 X 3228241 3228241 C T SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known missense c.8003 p.R2668H 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,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 MXRA5 HGNC ENSG00000101825 25 0 0.00 36 6 14.29 - - - NEUROD1 0 genome.wustl.edu 37 2 182542979 182542979 + Missense_Mutation SNP C C A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 2 182542979 182542979 C A SNP NEUROD1 ENST00000295108 human ensembl 69_37n -1 known missense c.609 p.M203I 1.000 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD,pfscan_HLH_DNA-bd - no_errors NEUROD1 HGNC ENSG00000162992 25 0 0.00 21 12 36.36 - - - NHLRC1 0 genome.wustl.edu 37 6 18122254 18122254 + Missense_Mutation SNP T T G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 6 18122254 18122254 T G SNP NHLRC1 ENST00000340650 human ensembl 69_37n -1 known missense c.584 p.D195A 1.000 pfscan_NHL_repeat_subgr smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING - no_errors NHLRC1 HGNC ENSG00000187566 56 0 0.00 72 8 10.00 - - - NKRF 0 genome.wustl.edu 37 X 118724267 118724267 + Missense_Mutation SNP C C T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 X 118724267 118724267 C T SNP NKRF ENST00000542113 human ensembl 69_37n -1 known missense c.1166 p.R389H 1.000 smart_Ds-RNA-bd pfam_G_patch_dom,pfam_R3H_ss-bd,smart_Ds-RNA-bd,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd - no_errors NKRF HGNC ENSG00000186416 79 0 0.00 64 19 22.89 - - - NLRP1 0 genome.wustl.edu 37 17 5461874 5461874 + Silent SNP G G A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 17 5461874 5461874 G A SNP NLRP1 ENST00000572272 human ensembl 69_37n -1 known silent c.2142 p.H714 0.000 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 38 0 0.00 10 18 64.29 - - - ODZ3 0 genome.wustl.edu 37 4 183714346 183714346 + Missense_Mutation SNP G G A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 4 183714346 183714346 G A SNP ODZ3 ENST00000406950 human ensembl 69_37n +1 known missense c.6521 p.R2174H 1.000 superfamily_Cyt_c_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ3 HGNC ENSG00000218336 52 0 0.00 35 7 16.67 - - - OR1S2 0 genome.wustl.edu 37 11 57970919 57970919 + Missense_Mutation SNP C C A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 11 57970919 57970919 C A SNP OR1S2 ENST00000302592 human ensembl 69_37n -1 known missense c.735 p.Q245H 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 OR1S2 HGNC ENSG00000197887 207 0 0.00 118 32 21.33 - - - OR2B2 0 genome.wustl.edu 37 6 27879388 27879388 + Missense_Mutation SNP G G A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 6 27879388 27879388 G A SNP OR2B2 ENST00000303324 human ensembl 69_37n -1 known missense c.710 p.A237V 0.997 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2B2 HGNC ENSG00000168131 141 0 0.00 98 17 14.78 - - - OR5B12 0 genome.wustl.edu 37 11 58207097 58207097 + Missense_Mutation SNP G G T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 11 58207097 58207097 G T SNP OR5B12 ENST00000302572 human ensembl 69_37n -1 known missense c.528 p.F176L 1.000 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5B12 HGNC ENSG00000172362 61 0 0.00 68 18 20.93 - - - OR5D13 0 genome.wustl.edu 37 11 55541722 55541722 + Missense_Mutation SNP G G A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 11 55541722 55541722 G A SNP OR5D13 ENST00000361760 human ensembl 69_37n +1 known missense c.809 p.S270N 0.004 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 68 0 0.00 42 14 25.00 - - - OR5M9 0 genome.wustl.edu 37 11 56230715 56230715 + Missense_Mutation SNP T T C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 11 56230715 56230715 T C SNP OR5M9 ENST00000279791 human ensembl 69_37n -1 known missense c.163 p.S55G 0.164 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5M9 HGNC ENSG00000150269 41 0 0.00 36 17 32.08 - - - OR6A2 0 genome.wustl.edu 37 11 6816236 6816236 + Missense_Mutation SNP G G A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 11 6816236 6816236 G A SNP OR6A2 ENST00000332601 human ensembl 69_37n -1 known missense c.704 p.S235L 0.125 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6A2 HGNC ENSG00000184933 41 0 0.00 44 6 12.00 - - - PCK2 0 genome.wustl.edu 37 14 24567421 24567421 + Silent SNP C C A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 14 24567421 24567421 C A SNP PCK2 ENST00000216780 human ensembl 69_37n +1 known silent c.285 p.A95 1.000 pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 31 0 0.00 35 8 18.60 - - - PIK3CA 0 genome.wustl.edu 37 3 178927980 178927980 + Missense_Mutation SNP T T C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 3 178927980 178927980 T C SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1258 p.C420R 1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 60 0 0.00 11 79 87.78 - - - PLA2G3 0 genome.wustl.edu 37 22 31532946 31532946 + Missense_Mutation SNP G G T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 22 31532946 31532946 G T SNP PLA2G3 ENST00000215885 human ensembl 69_37n -1 known missense c.1147 p.Q383K 1.000 pfam_PLipase_A2_euk,superfamily_PLipase_A2 pfam_PLipase_A2_euk,superfamily_PLipase_A2 - no_errors PLA2G3 HGNC ENSG00000100078 52 0 0.00 97 13 11.82 - - - POLA1 0 genome.wustl.edu 37 X 24717586 24717587 + Frame_Shift_Ins INS - - A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 X 24717586 24717587 - A INS POLA1 ENST00000379068 human ensembl 69_37n +1 known frame_shift_ins c.88_89 p.S33fs 1.000:1.000 NULL pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 16 0 0.00 37 6 13.95 - - - POLQ 0 genome.wustl.edu 37 3 121217489 121217489 + Missense_Mutation SNP G G C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 3 121217489 121217489 G C SNP POLQ ENST00000264233 human ensembl 69_37n -1 known missense c.1988 p.T663S 1.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 100 0 0.00 84 19 18.45 - - - POPDC2 0 genome.wustl.edu 37 3 119378865 119378865 + Missense_Mutation SNP G G T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 3 119378865 119378865 G T SNP POPDC2 ENST00000341124 human ensembl 69_37n -1 known missense c.406 p.Q136K 1.000 pfam_Popeye_prot,superfamily_cNMP-bd-like pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC2 HGNC ENSG00000121577 82 0 0.00 82 24 22.64 - - - POTEB 0 genome.wustl.edu 37 15 22077588 22077588 + Silent SNP A A G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 15 22077588 22077588 A G SNP POTEB ENST00000439682 human ensembl 69_37n -1 known silent c.642 p.D214 0.003 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEB HGNC ENSG00000233917 9 0 0.00 4 3 42.86 - - - PRDM5 0 genome.wustl.edu 37 4 121739572 121739572 + Nonsense_Mutation SNP C C A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 4 121739572 121739572 C A SNP PRDM5 ENST00000264808 human ensembl 69_37n -1 known nonsense c.586 p.E196* 1.000 pirsf_Znf_PRDM5 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 152 1 0.65 89 22 19.82 - - - PRPF4 0 genome.wustl.edu 37 9 116053913 116053913 + Missense_Mutation SNP G G C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 9 116053913 116053913 G C SNP PRPF4 ENST00000374198 human ensembl 69_37n +1 known missense c.1542 p.R514S 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 38 0 0.00 43 15 25.86 - - - PTPRB 0 genome.wustl.edu 37 12 70964942 70964942 + Silent SNP T T G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 12 70964942 70964942 T G SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known silent c.3234 p.V1078 0.515 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 84 0 0.00 60 24 28.57 - - - RSL1D1 0 genome.wustl.edu 37 16 11940658 11940658 + Missense_Mutation SNP C C T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 16 11940658 11940658 C T SNP RSL1D1 ENST00000571133 human ensembl 69_37n -1 known missense c.427 p.E143K 1.000 pfam_Ribosomal_L1,superfamily_Ribosomal_L1_SF pfam_Ribosomal_L1,superfamily_Ribosomal_L1_SF - no_errors RSL1D1 HGNC ENSG00000171490 77 0 0.00 46 31 40.26 - - - RUSC2 0 genome.wustl.edu 37 9 35558279 35558279 + Missense_Mutation SNP A A G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 9 35558279 35558279 A G SNP RUSC2 ENST00000361226 human ensembl 69_37n +1 known missense c.3146 p.E1049G 1.000 pfam_Run,pfscan_Run pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 71 0 0.00 70 12 14.63 - - - SELPLG 0 genome.wustl.edu 37 12 109017662 109017662 + Missense_Mutation SNP G G A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 12 109017662 109017662 G A SNP SELPLG ENST00000550948 human ensembl 69_37n -1 known missense c.422 p.A141V 0.000 NULL NULL - no_errors SELPLG HGNC ENSG00000110876 862 0 0.00 422 106 20.00 - - - SLC17A1 0 genome.wustl.edu 37 6 25801134 25801134 + Missense_Mutation SNP C C G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 6 25801134 25801134 C G SNP SLC17A1 ENST00000244527 human ensembl 69_37n -1 known missense c.1253 p.G418A 0.512 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt - no_errors SLC17A1 HGNC ENSG00000124568 60 0 0.00 62 15 19.48 - - - SLC22A25 0 genome.wustl.edu 37 11 62948206 62948206 + Frame_Shift_Del DEL C C - TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 11 62948206 62948206 C - DEL SLC22A25 ENST00000306494 human ensembl 69_37n -1 known frame_shift_del c.996 p.K334fs 0.018 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A25 HGNC ENSG00000196600 141 0 0.00 91 15 13.76 - - - STAC 0 genome.wustl.edu 37 3 36485094 36485094 + Missense_Mutation SNP A A G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 3 36485094 36485094 A G SNP STAC ENST00000273183 human ensembl 69_37n +1 known missense c.350 p.K117R 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors STAC HGNC ENSG00000144681 29 0 0.00 31 8 20.51 - - - TBP 0 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 12 0 0.00 33 18 35.29 - - - TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.742 p.R248W 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 75 0 0.00 24 18 42.86 - - - TRIM67 0 genome.wustl.edu 37 1 231344976 231344976 + Missense_Mutation SNP C C A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 1 231344976 231344976 C A SNP TRIM67 ENST00000366652 human ensembl 69_37n +1 known missense c.2103 p.H701Q 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 100 0 0.00 80 35 30.43 - - - TTC39A 0 genome.wustl.edu 37 1 51761833 51761833 + Missense_Mutation SNP T T C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 1 51761833 51761833 T C SNP TTC39A ENST00000447632 human ensembl 69_37n -1 known missense c.1171 p.I391V 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 31 0 0.00 33 9 21.43 - - - UBR2 0 genome.wustl.edu 37 6 42585064 42585064 + Silent SNP C C T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 6 42585064 42585064 C T SNP UBR2 ENST00000372899 human ensembl 69_37n +1 known silent c.1269 p.T423 0.980 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 106 0 0.00 74 19 20.43 - - - USP41 0 genome.wustl.edu 37 22 20720878 20720878 + Missense_Mutation SNP C C A TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 22 20720878 20720878 C A SNP USP41 ENST00000454608 human ensembl 69_37n -1 known missense c.870 p.E290D 0.002 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_stop_codon USP41 HGNC ENSG00000161133 18 0 0.00 12 7 36.84 - - - VWCE 0 genome.wustl.edu 37 11 61026440 61026440 + Missense_Mutation SNP G G C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 11 61026440 61026440 G C SNP VWCE ENST00000335613 human ensembl 69_37n -1 known missense c.2575 p.L859V 0.997 NULL pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 27 0 0.00 27 11 28.95 - - - ZNF177 0 genome.wustl.edu 37 19 9492136 9492136 + Missense_Mutation SNP T T G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 19 9492136 9492136 T G SNP ZNF177 ENST00000434737 human ensembl 69_37n +1 known missense c.1129 p.F377V 0.999 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 ZNF177 HGNC ENSG00000188629 118 0 0.00 58 29 33.33 - - - ZNF716 0 genome.wustl.edu 37 7 57528859 57528859 + Missense_Mutation SNP A A G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 7 57528859 57528859 A G SNP ZNF716 ENST00000420713 human ensembl 69_37n +1 known missense c.692 p.H231R 0.995 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 ZNF716 HGNC ENSG00000182111 61 0 0.00 37 28 43.08 - - - ZRANB1 0 genome.wustl.edu 37 10 126673532 126673532 + Missense_Mutation SNP G G C TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 28d44e6e-c73f-4788-8ad4-2bd6572f643d a64ed39f-0699-4997-b8f4-011090174b75 10 126673532 126673532 G C SNP ZRANB1 ENST00000359653 human ensembl 69_37n +1 known missense c.2098 p.E700Q 1.000 NULL pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 34 0 0.00 43 7 14.00 - - -