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 ABCB7 0 genome.wustl.edu 37 X 74296386 74296386 + Missense_Mutation SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b X 74296386 74296386 G A SNP ABCB7 ENST00000253577 human ensembl 69_37n -1 known missense c.560 p.A187V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB7 HGNC ENSG00000131269 204 0 0.00 268 36 11.80 - - - ABCB7 0 genome.wustl.edu 37 X 74296386 74296386 + Missense_Mutation SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc X 74296386 74296386 G A SNP ABCB7 ENST00000253577 human ensembl 69_37n -1 known missense c.560 p.A187V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB7 HGNC ENSG00000131269 176 1 0.56 268 36 11.80 - - - ADCY8 0 genome.wustl.edu 37 8 131826458 131826458 + Missense_Mutation SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 8 131826458 131826458 G A SNP ADCY8 ENST00000286355 human ensembl 69_37n -1 known missense c.2770 p.R924C 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 265 0 0.00 254 254 50.00 - - - ADCY8 0 genome.wustl.edu 37 8 131826458 131826458 + Missense_Mutation SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 8 131826458 131826458 G A SNP ADCY8 ENST00000286355 human ensembl 69_37n -1 known missense c.2770 p.R924C 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 232 0 0.00 254 254 50.00 - - - ANAPC5 0 genome.wustl.edu 37 12 121775176 121775176 + Missense_Mutation SNP T T A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 12 121775176 121775176 T A SNP ANAPC5 ENST00000261819 human ensembl 69_37n -1 known missense c.677 p.D226V 1.000 NULL smart_TPR_repeat - no_errors ANAPC5 HGNC ENSG00000089053 96 0 0.00 66 21 24.14 - - - ANAPC5 0 genome.wustl.edu 37 12 121775176 121775176 + Missense_Mutation SNP T T A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 12 121775176 121775176 T A SNP ANAPC5 ENST00000261819 human ensembl 69_37n -1 known missense c.677 p.D226V 1.000 NULL smart_TPR_repeat - no_errors ANAPC5 HGNC ENSG00000089053 100 0 0.00 66 21 24.14 - - - ANKRD50 0 genome.wustl.edu 37 4 125593120 125593120 + Missense_Mutation SNP T T C TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 4 125593120 125593120 T C SNP ANKRD50 ENST00000504087 human ensembl 69_37n -1 known missense c.1312 p.M438V 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD50 HGNC ENSG00000151458 172 0 0.00 142 19 11.80 - - - ANKRD50 0 genome.wustl.edu 37 4 125593120 125593120 + Missense_Mutation SNP T T C TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 4 125593120 125593120 T C SNP ANKRD50 ENST00000504087 human ensembl 69_37n -1 known missense c.1312 p.M438V 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD50 HGNC ENSG00000151458 173 0 0.00 142 19 11.80 - - - ARHGAP6 0 genome.wustl.edu 37 X 11162155 11162155 + Silent SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b X 11162155 11162155 G A SNP ARHGAP6 ENST00000337414 human ensembl 69_37n -1 known silent c.2121 p.G707 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 142 0 0.00 80 30 27.27 - - - ARHGAP6 0 genome.wustl.edu 37 X 11162155 11162155 + Silent SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc X 11162155 11162155 G A SNP ARHGAP6 ENST00000337414 human ensembl 69_37n -1 known silent c.2121 p.G707 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 120 0 0.00 80 30 27.27 - - - ARHGEF9 0 genome.wustl.edu 37 X 62917109 62917109 + Missense_Mutation SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b X 62917109 62917109 C T SNP ARHGEF9 ENST00000253401 human ensembl 69_37n -1 known missense c.457 p.E153K 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 282 0 0.00 198 70 26.12 - - - ARHGEF9 0 genome.wustl.edu 37 X 62917109 62917109 + Missense_Mutation SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc X 62917109 62917109 C T SNP ARHGEF9 ENST00000253401 human ensembl 69_37n -1 known missense c.457 p.E153K 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 247 1 0.40 198 70 26.12 - - - CARD9 0 genome.wustl.edu 37 9 139266463 139266463 + Missense_Mutation SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 9 139266463 139266463 G A SNP CARD9 ENST00000371732 human ensembl 69_37n -1 known missense c.68 p.S23L 0.765 pfam_CARD,superfamily_DEATH-like,pfscan_CARD pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD9 HGNC ENSG00000187796 49 0 0.00 87 16 15.53 - - - CCR1 0 genome.wustl.edu 37 3 46244889 46244889 + Missense_Mutation SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 3 46244889 46244889 C T SNP CCR1 ENST00000296140 human ensembl 69_37n -1 known missense c.916 p.E306K 0.988 pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_NPY_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 142 0 0.00 99 45 31.25 - - - CCR1 0 genome.wustl.edu 37 3 46244889 46244889 + Missense_Mutation SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 3 46244889 46244889 C T SNP CCR1 ENST00000296140 human ensembl 69_37n -1 known missense c.916 p.E306K 0.988 pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_NPY_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 117 0 0.00 99 45 31.25 - - - CDC37L1 0 genome.wustl.edu 37 9 4697194 4697194 + Missense_Mutation SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 9 4697194 4697194 C T SNP CDC37L1 ENST00000381854 human ensembl 69_37n +1 known missense c.607 p.H203Y 1.000 pfam_Cdc37_Hsp90-bd pfam_Cdc37_Hsp90-bd - no_errors CDC37L1 HGNC ENSG00000106993 298 0 0.00 185 57 23.55 - - - CDC37L1 0 genome.wustl.edu 37 9 4697194 4697194 + Missense_Mutation SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 9 4697194 4697194 C T SNP CDC37L1 ENST00000381854 human ensembl 69_37n +1 known missense c.607 p.H203Y 1.000 pfam_Cdc37_Hsp90-bd pfam_Cdc37_Hsp90-bd - no_errors CDC37L1 HGNC ENSG00000106993 226 0 0.00 185 57 23.55 - - - CHD1 0 genome.wustl.edu 37 5 98235337 98235337 + Missense_Mutation SNP T T C TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 5 98235337 98235337 T C SNP CHD1 ENST00000284049 human ensembl 69_37n -1 known missense c.932 p.K311R 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 177 0 0.00 133 24 15.29 - - - CHD1 0 genome.wustl.edu 37 5 98235337 98235337 + Missense_Mutation SNP T T C TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 5 98235337 98235337 T C SNP CHD1 ENST00000284049 human ensembl 69_37n -1 known missense c.932 p.K311R 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 182 0 0.00 133 24 15.29 - - - CLDN5 0 genome.wustl.edu 37 22 19511619 19511619 + Missense_Mutation SNP A A G TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 22 19511619 19511619 A G SNP CLDN5 ENST00000403084 human ensembl 69_37n -1 known missense c.415 p.C139R 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin5 - no_errors CLDN5 HGNC ENSG00000184113 36 0 0.00 50 8 13.79 - - - CNOT1 0 genome.wustl.edu 37 16 58577315 58577316 + Frame_Shift_Ins INS - - A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 16 58577315 58577316 - A INS CNOT1 ENST00000441024 human ensembl 69_37n -1 known frame_shift_ins c.4630_4629 p.L1543fs 0.004:0.000 NULL superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 35 0 0.00 25 3 10.71 - - - COL12A1 0 genome.wustl.edu 37 6 75834939 75834939 + Missense_Mutation SNP A A C TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 6 75834939 75834939 A C SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known missense c.6511 p.L2171V 0.268 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,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 COL12A1 HGNC ENSG00000111799 236 1 0.42 201 43 17.62 - - - COL12A1 0 genome.wustl.edu 37 6 75834939 75834939 + Missense_Mutation SNP A A C TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 6 75834939 75834939 A C SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known missense c.6511 p.L2171V 0.268 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,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 COL12A1 HGNC ENSG00000111799 184 0 0.00 201 43 17.62 - - - FAM153B 0 genome.wustl.edu 37 5 175511989 175511989 + Nonsense_Mutation SNP C C A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 5 175511989 175511989 C A SNP FAM153B ENST00000253490 human ensembl 69_37n +1 known nonsense c.24 p.C8* 0.000 NULL prints_FAM153 - no_errors FAM153B HGNC ENSG00000182230 303 0 0.00 326 45 12.13 - - - FAM153B 0 genome.wustl.edu 37 5 175511989 175511989 + Nonsense_Mutation SNP C C A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 5 175511989 175511989 C A SNP FAM153B ENST00000253490 human ensembl 69_37n +1 known nonsense c.24 p.C8* 0.000 NULL prints_FAM153 - no_errors FAM153B HGNC ENSG00000182230 231 0 0.00 326 45 12.13 - - - GHITM 0 genome.wustl.edu 37 10 85902493 85902493 + Missense_Mutation SNP T T C TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 10 85902493 85902493 T C SNP GHITM ENST00000372134 human ensembl 69_37n +1 known missense c.212 p.M71T 0.103 NULL pfam_Bax_inhibitor_1-related - no_errors GHITM HGNC ENSG00000165678 148 0 0.00 109 20 15.50 - - - GHITM 0 genome.wustl.edu 37 10 85902493 85902493 + Missense_Mutation SNP T T C TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 10 85902493 85902493 T C SNP GHITM ENST00000372134 human ensembl 69_37n +1 known missense c.212 p.M71T 0.103 NULL pfam_Bax_inhibitor_1-related - no_errors GHITM HGNC ENSG00000165678 125 0 0.00 109 20 15.50 - - - GNAI2 0 genome.wustl.edu 37 3 50273876 50273876 + Missense_Mutation SNP C C A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 3 50273876 50273876 C A SNP GNAI2 ENST00000313601 human ensembl 69_37n +1 known missense c.109 p.L37M 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA - no_errors GNAI2 HGNC ENSG00000114353 139 0 0.00 70 46 39.66 - - - GNAI2 0 genome.wustl.edu 37 3 50273876 50273876 + Missense_Mutation SNP C C A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 3 50273876 50273876 C A SNP GNAI2 ENST00000313601 human ensembl 69_37n +1 known missense c.109 p.L37M 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA - no_errors GNAI2 HGNC ENSG00000114353 118 0 0.00 70 46 39.66 - - - GOLGA2P5 0 genome.wustl.edu 37 12 100562921 100562921 + RNA DEL T T - TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 12 100562921 100562921 T - DEL GOLGA2P5 ENST00000421840 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GOLGA2P5 HGNC ENSG00000238105 22 0 0.00 28 4 12.50 - - - HRNR 0 genome.wustl.edu 37 1 152185679 152185679 + Missense_Mutation SNP C C A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 1 152185679 152185679 C A SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.8426 p.G2809V 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 111 0 0.00 180 21 10.45 - - - HRNR 0 genome.wustl.edu 37 1 152185679 152185679 + Missense_Mutation SNP C C A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 1 152185679 152185679 C A SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.8426 p.G2809V 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 127 0 0.00 180 21 10.45 - - - ILVBL 0 genome.wustl.edu 37 19 15227121 15227121 + Missense_Mutation SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 19 15227121 15227121 G A SNP ILVBL ENST00000263383 human ensembl 69_37n -1 known missense c.1313 p.A438V 0.000 NULL pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 80 0 0.00 110 17 13.39 - - - ILVBL 0 genome.wustl.edu 37 19 15227121 15227121 + Missense_Mutation SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 19 15227121 15227121 G A SNP ILVBL ENST00000263383 human ensembl 69_37n -1 known missense c.1313 p.A438V 0.000 NULL pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 58 0 0.00 110 17 13.39 - - - KCNQ5 0 genome.wustl.edu 37 6 73787062 73787062 + Missense_Mutation SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 6 73787062 73787062 G A SNP KCNQ5 ENST00000402622 human ensembl 69_37n +1 known missense c.634 p.A212T 1.000 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 151 0 0.00 119 23 16.20 - - - KCNQ5 0 genome.wustl.edu 37 6 73787062 73787062 + Missense_Mutation SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 6 73787062 73787062 G A SNP KCNQ5 ENST00000402622 human ensembl 69_37n +1 known missense c.634 p.A212T 1.000 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 137 0 0.00 119 23 16.20 - - - KDM6A 0 genome.wustl.edu 37 X 44894229 44894232 + Frame_Shift_Del DEL AAGT AAGT - TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b X 44894229 44894232 AAGT - DEL KDM6A ENST00000382899 human ensembl 69_37n +1 known frame_shift_del c.618_619 p.E206fs 1.000:1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 537 0 0.00 449 55 10.87 - - - KDM6A 0 genome.wustl.edu 37 X 44894229 44894232 + Frame_Shift_Del DEL AAGT AAGT - TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc X 44894229 44894232 AAGT - DEL KDM6A ENST00000382899 human ensembl 69_37n +1 known frame_shift_del c.618_619 p.E206fs 1.000:1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 356 0 0.00 449 55 10.87 - - - L3MBTL2 0 genome.wustl.edu 37 22 41605850 41605850 + Missense_Mutation SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 22 41605850 41605850 C T SNP L3MBTL2 ENST00000216237 human ensembl 69_37n +1 known missense c.175 p.R59W 0.973 NULL pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC ENSG00000100395 153 0 0.00 188 28 12.96 - - - L3MBTL2 0 genome.wustl.edu 37 22 41605850 41605850 + Missense_Mutation SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 22 41605850 41605850 C T SNP L3MBTL2 ENST00000216237 human ensembl 69_37n +1 known missense c.175 p.R59W 0.973 NULL pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC ENSG00000100395 127 0 0.00 188 28 12.96 - - - LAMB4 0 genome.wustl.edu 37 7 107688451 107688451 + Missense_Mutation SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 7 107688451 107688451 C T SNP LAMB4 ENST00000205386 human ensembl 69_37n -1 known missense c.4228 p.G1410S 0.214 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 165 0 0.00 140 29 16.96 - - - LAMB4 0 genome.wustl.edu 37 7 107688451 107688451 + Missense_Mutation SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 7 107688451 107688451 C T SNP LAMB4 ENST00000205386 human ensembl 69_37n -1 known missense c.4228 p.G1410S 0.214 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 151 1 0.65 140 29 16.96 - - - LTBP1 0 genome.wustl.edu 37 2 33500981 33500981 + Missense_Mutation SNP C C G TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 2 33500981 33500981 C G SNP LTBP1 ENST00000354476 human ensembl 69_37n +1 known missense c.2986 p.R996G 0.116 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 193 0 0.00 204 63 23.60 - - - LTBP1 0 genome.wustl.edu 37 2 33500981 33500981 + Missense_Mutation SNP C C G TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 2 33500981 33500981 C G SNP LTBP1 ENST00000354476 human ensembl 69_37n +1 known missense c.2986 p.R996G 0.116 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 140 0 0.00 204 63 23.60 - - - MST1P9 0 genome.wustl.edu 37 1 17085795 17085795 + Silent SNP G G T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 1 17085795 17085795 G T SNP MST1P9 ENST00000334998 human ensembl 69_37n -1 known silent c.1026 p.I342 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1P9 HGNC ENSG00000186715 42 0 0.00 53 6 10.17 - - - MUC5AC 0 genome.wustl.edu 37 11 1155537 1155537 + Silent SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 11 1155537 1155537 G A SNP MUC5AC ENST00000534821 human ensembl 69_37n +1 known silent c.225 p.A75 0.000 smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out - no_stop_codon:bad_bp_length_for_coding_region MUC5AC HGNC ENSG00000215182 25 0 0.00 15 9 36.00 - - - MUC5AC 0 genome.wustl.edu 37 11 1155537 1155537 + Silent SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 11 1155537 1155537 G A SNP MUC5AC ENST00000534821 human ensembl 69_37n +1 known silent c.225 p.A75 0.000 smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out - no_stop_codon:bad_bp_length_for_coding_region MUC5AC HGNC ENSG00000215182 11 0 0.00 15 9 36.00 - - - MYL12A 0 genome.wustl.edu 37 18 3253901 3253901 + Missense_Mutation SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 18 3253901 3253901 G A SNP MYL12A ENST00000217652 human ensembl 69_37n +1 known missense c.196 p.D66N 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL12A HGNC ENSG00000101608 96 0 0.00 118 20 14.39 - - - MYL12A 0 genome.wustl.edu 37 18 3253901 3253901 + Missense_Mutation SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 18 3253901 3253901 G A SNP MYL12A ENST00000217652 human ensembl 69_37n +1 known missense c.196 p.D66N 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL12A HGNC ENSG00000101608 98 0 0.00 118 20 14.39 - - - MYL12A 0 genome.wustl.edu 37 18 3254033 3254033 + Missense_Mutation SNP G G C TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 18 3254033 3254033 G C SNP MYL12A ENST00000217652 human ensembl 69_37n +1 known missense c.328 p.D110H 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL12A HGNC ENSG00000101608 138 0 0.00 155 29 15.76 - - - MYL12A 0 genome.wustl.edu 37 18 3254033 3254033 + Missense_Mutation SNP G G C TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 18 3254033 3254033 G C SNP MYL12A ENST00000217652 human ensembl 69_37n +1 known missense c.328 p.D110H 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL12A HGNC ENSG00000101608 110 0 0.00 155 29 15.76 - - - NDUFA1 0 genome.wustl.edu 37 X 119005892 119005892 + Silent SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b X 119005892 119005892 C T SNP NDUFA1 ENST00000371437 human ensembl 69_37n +1 known silent c.18 p.L6 0.799 pirsf_NADH_Ub_cplx-1_asu_su-1 pirsf_NADH_Ub_cplx-1_asu_su-1 - no_errors NDUFA1 HGNC ENSG00000125356 162 0 0.00 213 33 13.25 - - - NDUFA1 0 genome.wustl.edu 37 X 119005892 119005892 + Silent SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc X 119005892 119005892 C T SNP NDUFA1 ENST00000371437 human ensembl 69_37n +1 known silent c.18 p.L6 0.799 pirsf_NADH_Ub_cplx-1_asu_su-1 pirsf_NADH_Ub_cplx-1_asu_su-1 - no_errors NDUFA1 HGNC ENSG00000125356 152 0 0.00 213 33 13.25 - - - NUDT7 0 genome.wustl.edu 37 16 77759477 77759477 + Missense_Mutation SNP A A G TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 16 77759477 77759477 A G SNP NUDT7 ENST00000268533 human ensembl 69_37n +1 known missense c.185 p.E62G 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 135 0 0.00 135 25 15.62 - - - NUDT7 0 genome.wustl.edu 37 16 77759477 77759477 + Missense_Mutation SNP A A G TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 16 77759477 77759477 A G SNP NUDT7 ENST00000268533 human ensembl 69_37n +1 known missense c.185 p.E62G 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 129 0 0.00 135 25 15.62 - - - OR4C15 0 genome.wustl.edu 37 11 55322145 55322145 + Silent SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 11 55322145 55322145 C T SNP OR4C15 ENST00000314644 human ensembl 69_37n +1 known silent c.363 p.F121 0.000 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 OR4C15 HGNC ENSG00000181939 87 0 0.00 78 18 18.75 - - - OR4C15 0 genome.wustl.edu 37 11 55322145 55322145 + Silent SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 11 55322145 55322145 C T SNP OR4C15 ENST00000314644 human ensembl 69_37n +1 known silent c.363 p.F121 0.000 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 OR4C15 HGNC ENSG00000181939 85 0 0.00 78 18 18.75 - - - PCDH17 0 genome.wustl.edu 37 13 58208939 58208939 + Silent SNP T T A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 13 58208939 58208939 T A SNP PCDH17 ENST00000377918 human ensembl 69_37n +1 known silent c.2259 p.G753 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 81 0 0.00 110 33 22.92 - - - PCDH17 0 genome.wustl.edu 37 13 58208939 58208939 + Silent SNP T T A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 13 58208939 58208939 T A SNP PCDH17 ENST00000377918 human ensembl 69_37n +1 known silent c.2259 p.G753 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 79 0 0.00 110 33 22.92 - - - PDXDC1 0 genome.wustl.edu 37 16 15100357 15100357 + Missense_Mutation SNP T T C TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 16 15100357 15100357 T C SNP PDXDC1 ENST00000396410 human ensembl 69_37n +1 known missense c.496 p.F166L 0.998 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors PDXDC1 HGNC ENSG00000179889 234 1 0.43 229 52 18.51 - - - PDXDC1 0 genome.wustl.edu 37 16 15100357 15100357 + Missense_Mutation SNP T T C TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 16 15100357 15100357 T C SNP PDXDC1 ENST00000396410 human ensembl 69_37n +1 known missense c.496 p.F166L 0.998 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors PDXDC1 HGNC ENSG00000179889 211 0 0.00 229 52 18.51 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 123 0 0.00 129 211 62.06 - - - POLE 0 genome.wustl.edu 37 12 133253205 133253205 + Missense_Mutation SNP G G T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 12 133253205 133253205 G T SNP POLE ENST00000455752 human ensembl 69_37n -1 known missense c.869 p.T290N 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 137 0 0.00 142 33 18.86 - - - POLE 0 genome.wustl.edu 37 12 133253205 133253205 + Missense_Mutation SNP G G T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 12 133253205 133253205 G T SNP POLE ENST00000455752 human ensembl 69_37n -1 known missense c.869 p.T290N 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 136 0 0.00 142 33 18.86 - - - PTCHD1 0 genome.wustl.edu 37 X 23353126 23353126 + Missense_Mutation SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b X 23353126 23353126 G A SNP PTCHD1 ENST00000379361 human ensembl 69_37n +1 known missense c.134 p.R45H 1.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 85 0 0.00 87 32 26.89 - - - PTCHD1 0 genome.wustl.edu 37 X 23353126 23353126 + Missense_Mutation SNP G G A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc X 23353126 23353126 G A SNP PTCHD1 ENST00000379361 human ensembl 69_37n +1 known missense c.134 p.R45H 1.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 76 0 0.00 87 32 26.89 - - - SLC25A53 0 genome.wustl.edu 37 X 103349780 103349780 + Missense_Mutation SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b X 103349780 103349780 C T SNP SLC25A53 ENST00000357421 human ensembl 69_37n -1 known missense c.161 p.R54Q 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A53 HGNC ENSG00000176274 72 0 0.00 108 17 13.60 - - - SLC25A53 0 genome.wustl.edu 37 X 103349780 103349780 + Missense_Mutation SNP C C T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc X 103349780 103349780 C T SNP SLC25A53 ENST00000357421 human ensembl 69_37n -1 known missense c.161 p.R54Q 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A53 HGNC ENSG00000176274 92 0 0.00 108 17 13.60 - - - SLITRK6 0 genome.wustl.edu 37 13 86369908 86369908 + Missense_Mutation SNP C C A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 13 86369908 86369908 C A SNP SLITRK6 ENST00000400286 human ensembl 69_37n -1 known missense c.736 p.V246F 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 57 0 0.00 41 12 22.64 - - - SLITRK6 0 genome.wustl.edu 37 13 86369908 86369908 + Missense_Mutation SNP C C A TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 13 86369908 86369908 C A SNP SLITRK6 ENST00000400286 human ensembl 69_37n -1 known missense c.736 p.V246F 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 61 0 0.00 41 12 22.64 - - - SNTB1 0 genome.wustl.edu 37 8 121823729 121823729 + Missense_Mutation SNP C C G TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 8 121823729 121823729 C G SNP SNTB1 ENST00000395601 human ensembl 69_37n -1 known missense c.355 p.E119Q 1.000 pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC ENSG00000172164 67 0 0.00 154 41 20.92 - - - SNTB1 0 genome.wustl.edu 37 8 121823729 121823729 + Missense_Mutation SNP C C G TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 8 121823729 121823729 C G SNP SNTB1 ENST00000395601 human ensembl 69_37n -1 known missense c.355 p.E119Q 1.000 pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC ENSG00000172164 89 0 0.00 154 41 20.92 - - - SPTLC2 0 genome.wustl.edu 37 14 78043232 78043232 + Missense_Mutation SNP A A C TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 14 78043232 78043232 A C SNP SPTLC2 ENST00000216484 human ensembl 69_37n -1 known missense c.509 p.V170G 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC2 HGNC ENSG00000100596 146 0 0.00 166 21 11.17 - - - SPTLC2 0 genome.wustl.edu 37 14 78043232 78043232 + Missense_Mutation SNP A A C TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 14 78043232 78043232 A C SNP SPTLC2 ENST00000216484 human ensembl 69_37n -1 known missense c.509 p.V170G 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC2 HGNC ENSG00000100596 153 0 0.00 166 21 11.17 - - - TP53 0 genome.wustl.edu 37 17 7577081 7577081 + Missense_Mutation SNP T T G TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 17 7577081 7577081 T G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.857 p.E286A 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 268 0 0.00 128 83 39.15 - - - TP53 0 genome.wustl.edu 37 17 7577081 7577081 + Missense_Mutation SNP T T G TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 17 7577081 7577081 T G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.857 p.E286A 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 205 1 0.49 128 83 39.15 - - - TTN 0 genome.wustl.edu 37 2 179463325 179463325 + Missense_Mutation SNP G G T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 2 179463325 179463325 G T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.49315 p.L16439M 0.548 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 153 0 0.00 151 78 34.06 - - - TTN 0 genome.wustl.edu 37 2 179463325 179463325 + Missense_Mutation SNP G G T TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 2 179463325 179463325 G T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.49315 p.L16439M 0.548 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 198 0 0.00 151 78 34.06 - - - VWA5B1 0 genome.wustl.edu 37 1 20656786 20656786 + Missense_Mutation SNP C C G TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 1 20656786 20656786 C G SNP VWA5B1 ENST00000375089 human ensembl 69_37n +1 known missense c.1368 p.H456Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 149 0 0.00 201 27 11.79 - - - VWA5B1 0 genome.wustl.edu 37 1 20656786 20656786 + Missense_Mutation SNP C C G TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 1 20656786 20656786 C G SNP VWA5B1 ENST00000375089 human ensembl 69_37n +1 known missense c.1368 p.H456Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 120 0 0.00 201 27 11.79 - - - ZNF320 0 genome.wustl.edu 37 19 53384563 53384563 + Silent SNP A A G TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 261ed647-077d-4071-978f-ca030947436b 19 53384563 53384563 A G SNP ZNF320 ENST00000391781 human ensembl 69_37n -1 known silent c.816 p.P272 0.441 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 ZNF320 HGNC ENSG00000182986 194 0 0.00 178 38 17.59 - - - ZNF320 0 genome.wustl.edu 37 19 53384563 53384563 + Silent SNP A A G TCGA-BH-A0DL-01A-11D-A10Y-09 TCGA-BH-A0DL-11A-13D-A10Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d1b5971-5b99-41a9-9a7d-79adc0d6dd5f 96629b51-8ce6-4a2d-add3-3cd5c1a5c9dc 19 53384563 53384563 A G SNP ZNF320 ENST00000391781 human ensembl 69_37n -1 known silent c.816 p.P272 0.441 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 ZNF320 HGNC ENSG00000182986 175 0 0.00 178 38 17.59 - - -