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 ADAMTSL1 0 genome.wustl.edu 37 9 18892387 18892387 + Silent SNP G G T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 9 18892387 18892387 G T SNP ADAMTSL1 ENST00000380545 human ensembl 69_37n +1 putative silent c.747 p.R249 1.000 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors ADAMTSL1 HGNC ENSG00000178031 42 0 0.00 13 4 23.53 - - - APOBR 0 genome.wustl.edu 37 16 28506485 28506485 + Silent SNP G G A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 16 28506485 28506485 G A SNP APOBR ENST00000564831 human ensembl 69_37n +1 known silent c.123 p.A41 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 74 0 0.00 82 29 26.13 - - - BCAP31 0 genome.wustl.edu 37 X 152986328 152986328 + Silent SNP G G A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 X 152986328 152986328 G A SNP BCAP31 ENST00000458587 human ensembl 69_37n -1 known silent c.393 p.I131 0.222 pfam_Bap31 pfam_Bap31 - no_errors BCAP31 HGNC ENSG00000185825 77 0 0.00 78 41 34.45 - - - CA4 0 genome.wustl.edu 37 17 58235472 58235472 + Nonstop_Mutation SNP T T C TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 17 58235472 58235472 T C SNP CA4 ENST00000586876 human ensembl 69_37n +1 known nonstop c.319 p.*107Q 0.000 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA4 HGNC ENSG00000167434 41 0 0.00 4 5 55.56 - - - CD99L2 0 genome.wustl.edu 37 X 149999738 149999738 + Silent SNP C C T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 X 149999738 149999738 C T SNP CD99L2 ENST00000370377 human ensembl 69_37n -1 known silent c.96 p.L32 0.918 NULL pfam_CD99L2 - no_errors CD99L2 HGNC ENSG00000102181 112 0 0.00 106 63 37.28 - - - CHD7 0 genome.wustl.edu 37 8 61777880 61777880 + Silent SNP T T A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 8 61777880 61777880 T A SNP CHD7 ENST00000307121 human ensembl 69_37n +1 known silent c.8382 p.A2794 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 60 0 0.00 35 32 47.76 - - - CHMP4C 0 genome.wustl.edu 37 8 82670443 82670443 + Missense_Mutation SNP C C T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 8 82670443 82670443 C T SNP CHMP4C ENST00000297265 human ensembl 69_37n +1 known missense c.550 p.R184C 0.007 pfam_Snf7 pfam_Snf7 - no_errors CHMP4C HGNC ENSG00000164695 103 0 0.00 134 51 27.57 - - - CLEC4C 0 genome.wustl.edu 37 12 7894054 7894054 + Silent SNP T T A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 12 7894054 7894054 T A SNP CLEC4C ENST00000360345 human ensembl 69_37n -1 known silent c.198 p.P66 0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4C HGNC ENSG00000198178 136 0 0.00 457 78 14.58 - - - CNTNAP1 0 genome.wustl.edu 37 17 40847798 40847798 + Silent SNP C C G TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 17 40847798 40847798 C G SNP CNTNAP1 ENST00000264638 human ensembl 69_37n +1 known silent c.3252 p.V1084 0.988 superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 94 0 0.00 16 30 65.22 - - - CNTNAP1 0 genome.wustl.edu 37 17 40847799 40847799 + Missense_Mutation SNP T T G TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 17 40847799 40847799 T G SNP CNTNAP1 ENST00000264638 human ensembl 69_37n +1 known missense c.3253 p.S1085A 0.992 superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 94 0 0.00 16 30 65.22 - - - COASY 0 genome.wustl.edu 37 17 40714971 40714971 + Missense_Mutation SNP C C A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 17 40714971 40714971 C A SNP COASY ENST00000590958 human ensembl 69_37n +1 known missense c.418 p.P140T 1.000 NULL pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 50 0 0.00 8 34 80.95 - - - COL4A3 0 genome.wustl.edu 37 2 228163516 228163516 + Silent SNP A A G TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 2 228163516 228163516 A G SNP COL4A3 ENST00000396578 human ensembl 69_37n +1 known silent c.3870 p.P1290 0.968 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 26 0 0.00 24 15 38.46 - - - DACT2 0 genome.wustl.edu 37 6 168709386 168709386 + Missense_Mutation SNP C C T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 6 168709386 168709386 C T SNP DACT2 ENST00000366795 human ensembl 69_37n -1 known missense c.1051 p.E351K 0.003 NULL NULL - no_errors DACT2 HGNC ENSG00000164488 22 0 0.00 12 7 36.84 - - - EXOC6 0 genome.wustl.edu 37 10 94679793 94679793 + Missense_Mutation SNP A A G TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 10 94679793 94679793 A G SNP EXOC6 ENST00000371547 human ensembl 69_37n +1 known missense c.922 p.I308V 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 284 0 0.00 213 126 37.06 - - - FRMD1 0 genome.wustl.edu 37 6 168462600 168462600 + Missense_Mutation SNP G G A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 6 168462600 168462600 G A SNP FRMD1 ENST00000283309 human ensembl 69_37n -1 known missense c.932 p.T311M 0.996 pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD1 HGNC ENSG00000153303 45 0 0.00 24 16 38.10 - - - FRMD4A 0 genome.wustl.edu 37 10 13699219 13699219 + Silent SNP C C T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 10 13699219 13699219 C T SNP FRMD4A ENST00000357447 human ensembl 69_37n -1 known silent c.2370 p.A790 0.131 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 14 0 0.00 4 6 60.00 - - - HDAC1 0 genome.wustl.edu 37 1 32796496 32796496 + Silent SNP G G T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 1 32796496 32796496 G T SNP HDAC1 ENST00000373548 human ensembl 69_37n +1 known silent c.966 p.T322 0.529 pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC1 HGNC ENSG00000116478 84 0 0.00 77 36 31.58 - - - KIF2B 0 genome.wustl.edu 37 17 51900535 51900535 + Silent SNP G G A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 17 51900535 51900535 G A SNP KIF2B ENST00000268919 human ensembl 69_37n +1 known silent c.141 p.T47 0.072 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 70 0 0.00 11 36 76.60 - - - KRT81 0 genome.wustl.edu 37 12 52682214 52682215 + Frame_Shift_Ins INS - - T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 12 52682214 52682215 - T INS KRT81 ENST00000327741 human ensembl 69_37n -1 known frame_shift_ins c.666_665 p.S223fs 0.668:0.994 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT81 HGNC ENSG00000205426 114 0 0.00 87 47 35.07 - - - LAMA5 0 genome.wustl.edu 37 20 60886769 60886769 + Missense_Mutation SNP G G T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 20 60886769 60886769 G T SNP LAMA5 ENST00000252999 human ensembl 69_37n -1 known missense c.9707 p.P3236Q 0.003 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 24 0 0.00 5 6 54.55 - - - LPAR2 0 genome.wustl.edu 37 19 19735340 19735340 + Silent SNP G G A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 19 19735340 19735340 G A SNP LPAR2 ENST00000407877 human ensembl 69_37n -1 known silent c.781 p.L261 0.999 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_LPA_rcpt_EDG4,prints_7TM_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt,prints_S1P_rcpt - no_errors LPAR2 HGNC ENSG00000064547 32 0 0.00 32 25 43.86 - - - LUC7L2 0 genome.wustl.edu 37 7 139094326 139094326 + Missense_Mutation SNP G G C TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 7 139094326 139094326 G C SNP LUC7L2 ENST00000541515 human ensembl 69_37n +1 known missense c.903 p.K301N 1.000 pfam_LUC7-rel pfam_LUC7-rel - no_errors LUC7L2 HGNC ENSG00000146963 79 0 0.00 56 45 44.55 - - - MUC12 0 genome.wustl.edu 37 7 100637242 100637242 + Missense_Mutation SNP G G A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 7 100637242 100637242 G A SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.3827 p.R1276H 0.001 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 27 0 0.00 65 16 19.75 - - - MYH1 0 genome.wustl.edu 37 17 10419585 10419585 + Missense_Mutation SNP C C A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 17 10419585 10419585 C A SNP MYH1 ENST00000226207 human ensembl 69_37n -1 known missense c.279 p.M93I 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 333 0 0.00 310 200 39.22 - - - MYT1 0 genome.wustl.edu 37 20 62863610 62863612 + In_Frame_Del DEL GCA GCA - TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 20 62863610 62863612 GCA - DEL MYT1 ENST00000536311 human ensembl 69_37n +1 known in_frame_del c.2850_2852 p.Q951in_frame_del 1.000:1.000:1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 61 0 0.00 5 15 71.43 - - - NEUROD4 0 genome.wustl.edu 37 12 55420713 55420713 + Nonsense_Mutation SNP C C T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 12 55420713 55420713 C T SNP NEUROD4 ENST00000242994 human ensembl 69_37n +1 known nonsense c.490 p.Q164* 1.000 pfam_Neurogenic_DUF,superfamily_HLH_DNA-bd,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 NEUROD4 HGNC ENSG00000123307 44 0 0.00 28 18 39.13 - - - NFX1 0 genome.wustl.edu 37 9 33364082 33364082 + Missense_Mutation SNP G G T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 9 33364082 33364082 G T SNP NFX1 ENST00000379540 human ensembl 69_37n +1 known missense c.2948 p.S983I 1.000 smart_R3H_ss-bd pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 144 0 0.00 33 112 77.24 - - - NLGN1 0 genome.wustl.edu 37 3 173322406 173322406 + Nonsense_Mutation SNP C C A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 3 173322406 173322406 C A SNP NLGN1 ENST00000401917 human ensembl 69_37n +1 known nonsense c.18 p.C6* 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 136 0 0.00 78 129 62.32 - - - NOS3 0 genome.wustl.edu 37 7 150697610 150697610 + Missense_Mutation SNP G G T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 7 150697610 150697610 G T SNP NOS3 ENST00000297494 human ensembl 69_37n +1 known missense c.1156 p.D386Y 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 61 0 0.00 60 36 37.50 - - - OR2T10 0 genome.wustl.edu 37 1 248756685 248756685 + Missense_Mutation SNP G G T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 1 248756685 248756685 G T SNP OR2T10 ENST00000330500 human ensembl 69_37n -1 known missense c.385 p.P129T 0.996 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 OR2T10 HGNC ENSG00000184022 102 0 0.00 173 50 22.32 - - - PIWIL3 0 genome.wustl.edu 37 22 25131779 25131779 + Missense_Mutation SNP C C A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 22 25131779 25131779 C A SNP PIWIL3 ENST00000332271 human ensembl 69_37n -1 known missense c.1530 p.W510C 0.944 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 160 0 0.00 33 63 65.62 - - - RALGAPB 0 genome.wustl.edu 37 20 37177429 37177429 + Silent SNP A A T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 20 37177429 37177429 A T SNP RALGAPB ENST00000262879 human ensembl 69_37n +1 known silent c.3000 p.A1000 0.996 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC ENSG00000170471 100 0 0.00 87 57 39.58 - - - SLC5A11 0 genome.wustl.edu 37 16 24921651 24921651 + Missense_Mutation SNP C C T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 16 24921651 24921651 C T SNP SLC5A11 ENST00000347898 human ensembl 69_37n +1 known missense c.1675 p.R559C 0.996 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 79 0 0.00 118 58 32.95 - - - STK11 0 genome.wustl.edu 37 19 1218492 1218492 + Nonsense_Mutation SNP C C T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 19 1218492 1218492 C T SNP STK11 ENST00000326873 human ensembl 69_37n +1 known nonsense c.367 p.Q123* 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 STK11 HGNC ENSG00000118046 91 0 0.00 12 40 76.92 - - - TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.818 p.R273H 0.864 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 102 0 0.00 30 59 65.56 - - - TRDN 0 genome.wustl.edu 37 6 123892166 123892166 + Missense_Mutation SNP C C T TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 6 123892166 123892166 C T SNP TRDN ENST00000398178 human ensembl 69_37n -1 known missense c.134 p.S45N 1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 55 0 0.00 73 39 34.82 - - - USP25 0 genome.wustl.edu 37 21 17242407 17242407 + Missense_Mutation SNP G G A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 21 17242407 17242407 G A SNP USP25 ENST00000449491 human ensembl 69_37n +1 putative missense c.512 p.G171E 0.924 NULL NULL - no_start_codon:pseudogene:no_stop_codon USP25 HGNC ENSG00000155313 65 0 0.00 39 17 30.36 - - - WDR27 0 genome.wustl.edu 37 6 170070709 170070709 + Missense_Mutation SNP C C A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 6 170070709 170070709 C A SNP WDR27 ENST00000448612 human ensembl 69_37n -1 known missense c.412 p.V138F 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR27 HGNC ENSG00000184465 63 0 0.00 78 58 42.65 - - - XAB2 0 genome.wustl.edu 37 19 7688749 7688749 + Silent SNP C C G TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 19 7688749 7688749 C G SNP XAB2 ENST00000358368 human ensembl 69_37n -1 known silent c.987 p.L329 0.997 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 37 0 0.00 17 11 39.29 - - - YY1AP1 0 genome.wustl.edu 37 1 155630341 155630341 + Missense_Mutation SNP T T C TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 1 155630341 155630341 T C SNP YY1AP1 ENST00000368339 human ensembl 69_37n -1 known missense c.1774 p.I592V 0.784 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 100 0 0.00 114 43 27.39 - - - ZC3H12B 0 genome.wustl.edu 37 X 64721696 64721696 + Missense_Mutation SNP G G A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 X 64721696 64721696 G A SNP ZC3H12B ENST00000338957 human ensembl 69_37n +1 known missense c.1118 p.C373Y 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 15 0 0.00 17 5 22.73 - - - ZMYND10 0 genome.wustl.edu 37 3 50379059 50379059 + Missense_Mutation SNP C C G TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f66d4178-34f3-4f5d-aa0a-7fdd03801033 cc160618-dacb-4809-92d6-78503671cd60 3 50379059 50379059 C G SNP ZMYND10 ENST00000231749 human ensembl 69_37n -1 known missense c.1193 p.S398T 0.079 pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND - no_errors ZMYND10 HGNC ENSG00000004838 97 0 0.00 22 56 71.79 - - -