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 74296459 74296459 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 74296459 74296459 T C SNP ABCB7 ENST00000253577 human ensembl 69_37n -1 known missense c.487 p.K163E 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 168 0 0.00 80 42 34.43 - - - ABCC1 0 genome.wustl.edu 37 16 16218677 16218677 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 16 16218677 16218677 A G SNP ABCC1 ENST00000399408 human ensembl 69_37n +1 known missense c.3652 p.N1218D 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 86 0 0.00 118 18 13.14 - - - ACTN3 0 genome.wustl.edu 37 11 66328165 66328165 + Missense_Mutation SNP C C A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 66328165 66328165 C A SNP ACTN3 ENST00000502692 human ensembl 69_37n +1 known missense c.1928 p.P643H 0.974 NULL NULL - pseudogene ACTN3 HGNC ENSG00000248746 71 0 0.00 62 18 22.50 - - - ADAM29 0 genome.wustl.edu 37 4 175897313 175897313 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 4 175897313 175897313 C T SNP ADAM29 ENST00000359240 human ensembl 69_37n +1 known missense c.637 p.R213C 0.001 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 239 0 0.00 137 75 35.38 - - - ADAMTS16 0 genome.wustl.edu 37 5 5242243 5242243 + Silent SNP T T A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 5 5242243 5242243 T A SNP ADAMTS16 ENST00000274181 human ensembl 69_37n +1 known silent c.2601 p.P867 0.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 74 0 0.00 54 43 43.88 - - - ADAMTSL1 0 genome.wustl.edu 37 9 18775842 18775842 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 9 18775842 18775842 G A SNP ADAMTSL1 ENST00000380548 human ensembl 69_37n +1 novel silent c.2499 p.P833 0.013 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ENSG00000178031 141 0 0.00 82 50 36.23 - - - ADC 0 genome.wustl.edu 37 1 33562360 33562360 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 33562360 33562360 G A SNP ADC ENST00000373441 human ensembl 69_37n +1 known missense c.806 p.G269D 0.997 pfam_De-COase2_N,superfamily_Ala_racemase/Decarboxylase_C pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ADC HGNC ENSG00000142920 195 0 0.00 199 41 17.08 - - - ADCY5 0 genome.wustl.edu 37 3 123010174 123010174 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 123010174 123010174 C T SNP ADCY5 ENST00000462833 human ensembl 69_37n -1 known missense c.3113 p.R1038Q 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 38 0 0.00 30 15 33.33 - - - ADNP 0 genome.wustl.edu 37 20 49508350 49508350 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 20 49508350 49508350 G A SNP ADNP ENST00000349014 human ensembl 69_37n -1 known silent c.2901 p.D967 0.780 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 131 0 0.00 126 26 17.11 - - - ADNP2 0 genome.wustl.edu 37 18 77895840 77895840 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 18 77895840 77895840 C T SNP ADNP2 ENST00000262198 human ensembl 69_37n +1 known silent c.2544 p.H848 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 34 0 0.00 27 11 28.21 - - - ALDH5A1 0 genome.wustl.edu 37 6 24502792 24502792 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 6 24502792 24502792 A G SNP ALDH5A1 ENST00000348925 human ensembl 69_37n +1 known missense c.396 p.I132M 0.522 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH - no_errors ALDH5A1 HGNC ENSG00000112294 541 0 0.00 511 305 37.33 - - - ANKRD36 0 genome.wustl.edu 37 2 97868069 97868069 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 97868069 97868069 C T SNP ANKRD36 ENST00000420699 human ensembl 69_37n +1 known silent c.2898 p.D966 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 720 0 0.00 161 49 23.22 - - - ANKS1B 0 genome.wustl.edu 37 12 99640366 99640367 + Frame_Shift_Ins INS - - T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 99640366 99640367 - T INS ANKS1B ENST00000329257 human ensembl 69_37n -1 known frame_shift_ins c.2033_2032 p.S678fs 0.976:0.996 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 412 0 0.00 322 90 21.84 - - - AP4M1 0 genome.wustl.edu 37 7 99704464 99704464 + Nonsense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 99704464 99704464 C T SNP AP4M1 ENST00000359593 human ensembl 69_37n +1 known nonsense c.1321 p.R441* 0.996 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP4M1 HGNC ENSG00000221838 29 0 0.00 33 10 23.26 - - - APC 0 genome.wustl.edu 37 5 112175041 112175041 + Missense_Mutation SNP A A C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 5 112175041 112175041 A C SNP APC ENST00000257430 human ensembl 69_37n +1 known missense c.3750 p.K1250N 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 73 0 0.00 50 36 41.86 - - - ARHGAP22 0 genome.wustl.edu 37 10 49659122 49659122 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 49659122 49659122 C T SNP ARHGAP22 ENST00000417912 human ensembl 69_37n -1 known silent c.1098 p.T366 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 41 0 0.00 27 22 44.90 - - - ARHGAP29 0 genome.wustl.edu 37 1 94668215 94668216 + Frame_Shift_Del DEL TT TT - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 94668215 94668216 TT - DEL ARHGAP29 ENST00000260526 human ensembl 69_37n -1 known frame_shift_del c.1028_1027 p.K343fs 0.998:0.996 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 387 0 0.00 425 73 14.60 - - - ARPC1B 0 genome.wustl.edu 37 7 98991736 98991736 + Silent SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 98991736 98991736 T C SNP ARPC1B ENST00000252725 human ensembl 69_37n +1 known silent c.1074 p.D358 0.671 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1B HGNC ENSG00000130429 56 0 0.00 47 19 28.79 - - - ATP12A 0 genome.wustl.edu 37 13 25272825 25272825 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 13 25272825 25272825 C T SNP ATP12A ENST00000218548 human ensembl 69_37n +1 known silent c.1560 p.H520 0.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP12A HGNC ENSG00000075673 56 0 0.00 56 13 18.84 - - - ATP13A4 0 genome.wustl.edu 37 3 193183869 193183869 + Splice_Site SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 193183869 193183869 A G SNP ATP13A4 ENST00000392443 human ensembl 69_37n -1 novel splice_site c.1215+2 e11+2 0.294 - - - no_errors ATP13A4 HGNC ENSG00000127249 133 0 0.00 104 66 38.82 - - - ATRNL1 0 genome.wustl.edu 37 10 117221463 117221463 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 117221463 117221463 T C SNP ATRNL1 ENST00000355044 human ensembl 69_37n +1 known missense c.3335 p.I1112T 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EGF-like,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 633 0 0.00 312 192 38.10 - - - ATXN2 0 genome.wustl.edu 37 12 111990087 111990087 + Frame_Shift_Del DEL T T - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 111990087 111990087 T - DEL ATXN2 ENST00000377617 human ensembl 69_37n -1 known frame_shift_del c.1048 p.R350fs 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 281 0 0.00 314 37 10.51 - - - B4GALNT1 0 genome.wustl.edu 37 12 58025102 58025103 + Frame_Shift_Ins INS - - C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 58025102 58025103 - C INS B4GALNT1 ENST00000341156 human ensembl 69_37n -1 known frame_shift_ins c.264_263 p.L89fs 0.004:0.099 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 58 0 0.00 58 17 22.67 - - - BIRC7 0 genome.wustl.edu 37 20 61869314 61869314 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 20 61869314 61869314 G A SNP BIRC7 ENST00000217169 human ensembl 69_37n +1 known missense c.409 p.G137R 0.969 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC7 HGNC ENSG00000101197 18 0 0.00 22 16 42.11 - - - BMP8B 0 genome.wustl.edu 37 1 40228838 40228838 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 40228838 40228838 A G SNP BMP8B ENST00000372827 human ensembl 69_37n -1 known missense c.985 p.Y329H 1.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP8B HGNC ENSG00000116985 135 0 0.00 92 61 39.87 - - - BROX 0 genome.wustl.edu 37 1 222897497 222897497 + Silent SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 222897497 222897497 A G SNP BROX ENST00000340934 human ensembl 69_37n +1 known silent c.465 p.K155 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors BROX HGNC ENSG00000162819 245 0 0.00 275 49 15.12 - - - BTN2A1 0 genome.wustl.edu 37 6 26468547 26468547 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 6 26468547 26468547 G A SNP BTN2A1 ENST00000312541 human ensembl 69_37n +1 known missense c.1354 p.V452I 0.034 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTN2A1 HGNC ENSG00000112763 284 0 0.00 198 127 39.08 - - - C11orf84 0 genome.wustl.edu 37 11 63585474 63585474 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 63585474 63585474 C T SNP C11orf84 ENST00000294244 human ensembl 69_37n +1 known missense c.325 p.H109Y 0.927 NULL NULL - no_errors C11orf84 HGNC ENSG00000168005 65 0 0.00 49 41 45.56 - - - C1QTNF6 0 genome.wustl.edu 37 22 37578518 37578518 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 22 37578518 37578518 A G SNP C1QTNF6 ENST00000337843 human ensembl 69_37n -1 known missense c.547 p.F183L 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC ENSG00000133466 33 0 0.00 11 24 68.57 - - - CACNA1I 0 genome.wustl.edu 37 22 40043828 40043828 + Silent SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 22 40043828 40043828 T C SNP CACNA1I ENST00000336649 human ensembl 69_37n +1 known silent c.1464 p.H488 0.019 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 67 0 0.00 31 41 56.94 - - - CAMSAP3 0 genome.wustl.edu 37 19 7676815 7676815 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 19 7676815 7676815 C T SNP CAMSAP3 ENST00000446248 human ensembl 69_37n +1 known missense c.1517 p.A506V 0.998 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 33 0 0.00 21 16 43.24 - - - CAST 0 genome.wustl.edu 37 5 96101008 96101008 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 5 96101008 96101008 A G SNP CAST ENST00000484552 human ensembl 69_37n +1 known missense c.991 p.T331A 0.993 pfam_Prot_inh_calpain pfam_Prot_inh_calpain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CAST HGNC ENSG00000153113 154 1 0.65 61 26 29.55 - - - CATSPER2 0 genome.wustl.edu 37 15 43927354 43927354 + Splice_Site DEL T T - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 15 43927354 43927354 T - DEL CATSPER2 ENST00000419262 human ensembl 69_37n -1 known splice_site_del c.34-2 e2-2 0.002 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CATSPER2 HGNC ENSG00000166762 46 0 0.00 28 17 35.42 - - - CCDC147 0 genome.wustl.edu 37 10 106118199 106118199 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 106118199 106118199 A G SNP CCDC147 ENST00000369704 human ensembl 69_37n +1 known missense c.110 p.E37G 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 151 0 0.00 129 42 24.56 - - - CDH20 0 genome.wustl.edu 37 18 59157855 59157855 + Missense_Mutation SNP G G T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 18 59157855 59157855 G T SNP CDH20 ENST00000262717 human ensembl 69_37n +1 known missense c.69 p.W23C 0.994 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 141 0 0.00 117 37 24.03 - - - CDH24 0 genome.wustl.edu 37 14 23523784 23523785 + Frame_Shift_Ins INS - - C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 14 23523784 23523785 - C INS CDH24 ENST00000267383 human ensembl 69_37n -1 known frame_shift_ins c.715_714 p.L238fs 1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 74 0 0.00 65 26 28.57 - - - CDKN2D 0 genome.wustl.edu 37 19 10677827 10677827 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 19 10677827 10677827 G A SNP CDKN2D ENST00000335766 human ensembl 69_37n -1 known silent c.408 p.D136 0.621 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2D HGNC ENSG00000129355 35 0 0.00 33 20 37.74 - - - CENPE 0 genome.wustl.edu 37 4 104096015 104096015 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 4 104096015 104096015 T C SNP CENPE ENST00000265148 human ensembl 69_37n -1 known missense c.1525 p.N509D 0.811 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 483 0 0.00 459 69 13.07 - - - CFH 0 genome.wustl.edu 37 1 196695952 196695952 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 196695952 196695952 C T SNP CFH ENST00000367429 human ensembl 69_37n +1 known silent c.2118 p.S706 0.009 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 238 0 0.00 143 18 11.18 - - - CHD5 0 genome.wustl.edu 37 1 6181297 6181297 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 6181297 6181297 C T SNP CHD5 ENST00000262450 human ensembl 69_37n -1 known missense c.4780 p.A1594T 0.700 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 104 0 0.00 128 22 14.29 - - - CKMT2 0 genome.wustl.edu 37 5 80554943 80554943 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 5 80554943 80554943 A G SNP CKMT2 ENST00000254035 human ensembl 69_37n +1 known missense c.884 p.E295G 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT2 HGNC ENSG00000131730 220 0 0.00 196 94 32.30 - - - CLEC2A 0 genome.wustl.edu 37 12 10078860 10078860 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 10078860 10078860 T C SNP CLEC2A ENST00000455827 human ensembl 69_37n -1 known missense c.138 p.I46M 0.128 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2A HGNC ENSG00000188393 292 0 0.00 154 83 35.02 - - - CLMN 0 genome.wustl.edu 37 14 95662949 95662949 + Frame_Shift_Del DEL T T - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 14 95662949 95662949 T - DEL CLMN ENST00000298912 human ensembl 69_37n -1 known frame_shift_del c.2594 p.K865fs 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 354 0 0.00 383 152 27.49 - - - CNKSR2 0 genome.wustl.edu 37 X 21627677 21627678 + In_Frame_Ins INS - - GAG TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 21627677 21627678 - GAG INS CNKSR2 ENST00000379510 human ensembl 69_37n +1 known in_frame_ins c.2634_2635 p.882in_frame_insE 0.989:0.997 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 18 0 0.00 12 4 25.00 - - - COL6A6 0 genome.wustl.edu 37 3 130380867 130380867 + Frame_Shift_Del DEL T T - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 130380867 130380867 T - DEL COL6A6 ENST00000358511 human ensembl 69_37n +1 known frame_shift_del c.6217 p.L2074fs 0.958 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 166 0 0.00 128 62 32.29 - - - CPSF3 0 genome.wustl.edu 37 2 9570133 9570135 + In_Frame_Del DEL CTC CTC - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 9570133 9570135 CTC - DEL CPSF3 ENST00000238112 human ensembl 69_37n +1 known in_frame_del c.196_198 p.L68in_frame_del 1.000:1.000:0.989 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3 HGNC ENSG00000119203 491 0 0.00 539 66 10.89 - - - CPXM2 0 genome.wustl.edu 37 10 125521407 125521407 + Silent SNP G G T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 125521407 125521407 G T SNP CPXM2 ENST00000241305 human ensembl 69_37n -1 known silent c.1758 p.S586 0.993 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 36 0 0.00 16 19 54.29 - - - CRAT 0 genome.wustl.edu 37 9 131864323 131864323 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 9 131864323 131864323 T C SNP CRAT ENST00000318080 human ensembl 69_37n -1 known missense c.644 p.D215G 0.994 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 145 1 0.68 148 36 19.57 - - - CRIPAK 0 genome.wustl.edu 37 4 1389289 1389289 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 4 1389289 1389289 C T SNP CRIPAK ENST00000324803 human ensembl 69_37n +1 known silent c.990 p.P330 0.008 smart_Post-SET_dom smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 52 0 0.00 54 27 32.93 - - - CSMD1 0 genome.wustl.edu 37 8 2815319 2815319 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 8 2815319 2815319 G A SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.9716 p.T3239M 0.156 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 152 1 0.65 142 26 15.38 - - - DALRD3 0 genome.wustl.edu 37 3 49053683 49053684 + Frame_Shift_Del DEL GT GT - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 49053683 49053684 GT - DEL DALRD3 ENST00000341949 human ensembl 69_37n -1 known frame_shift_del c.1237_1236 p.F414fs 1.000:0.518 pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 111 0 0.00 42 36 46.15 - - - DAZAP1 0 genome.wustl.edu 37 19 1430254 1430254 + Frame_Shift_Del DEL C C - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 19 1430254 1430254 C - DEL DAZAP1 ENST00000233078 human ensembl 69_37n +1 known frame_shift_del c.764 p.P257fs 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 20 0 0.00 28 23 41.07 - - - DCAF4L2 0 genome.wustl.edu 37 8 88885440 88885440 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 8 88885440 88885440 G A SNP DCAF4L2 ENST00000319675 human ensembl 69_37n -1 known missense c.760 p.R254C 0.994 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 141 0 0.00 129 67 34.18 - - - DCTN1 0 genome.wustl.edu 37 2 74593377 74593377 + Frame_Shift_Del DEL G G - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 74593377 74593377 G - DEL DCTN1 ENST00000361874 human ensembl 69_37n -1 known frame_shift_del c.2754 p.S919fs 0.997 NULL pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 79 0 0.00 82 10 10.75 - - - DDX20 0 genome.wustl.edu 37 1 112305336 112305336 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 112305336 112305336 T C SNP DDX20 ENST00000369702 human ensembl 69_37n +1 known missense c.1142 p.V381A 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX20 HGNC ENSG00000064703 371 0 0.00 448 72 13.82 - - - DENND1B 0 genome.wustl.edu 37 1 197480015 197480015 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 197480015 197480015 C T SNP DENND1B ENST00000391979 human ensembl 69_37n -1 putative missense c.823 p.D275N 0.998 NULL NULL - no_start_codon DENND1B HGNC ENSG00000213047 61 0 0.00 10 11 50.00 - - - DIP2B 0 genome.wustl.edu 37 12 51092970 51092970 + Frame_Shift_Del DEL A A - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 51092970 51092970 A - DEL DIP2B ENST00000301180 human ensembl 69_37n +1 known frame_shift_del c.2310 p.N772fs 0.285 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 295 0 0.00 343 50 12.69 - - - DNAH5 0 genome.wustl.edu 37 5 13871098 13871098 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 5 13871098 13871098 G A SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known silent c.3612 p.F1204 0.099 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 157 0 0.00 73 45 38.14 - - - DOCK10 0 genome.wustl.edu 37 2 225750871 225750871 + Frame_Shift_Del DEL C C - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 225750871 225750871 C - DEL DOCK10 ENST00000258390 human ensembl 69_37n -1 known frame_shift_del c.521 p.G174fs 0.999 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 63 0 0.00 47 18 26.47 - - - DPP7 0 genome.wustl.edu 37 9 140006430 140006430 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 9 140006430 140006430 A G SNP DPP7 ENST00000371579 human ensembl 69_37n -1 known missense c.1102 p.F368L 1.000 pfam_Peptidase_S28 pfam_Peptidase_S28,pfam_AB_hydrolase_1 - no_errors DPP7 HGNC ENSG00000176978 64 0 0.00 58 30 34.09 - - - DST 0 genome.wustl.edu 37 6 56495093 56495095 + In_Frame_Del DEL CTT CTT - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 6 56495093 56495095 CTT - DEL DST ENST00000370754 human ensembl 69_37n -1 known in_frame_del c.4132_4130 p.E1377in_frame_del 1.000:1.000:1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 264 0 0.00 226 99 30.46 - - - DTX2 0 genome.wustl.edu 37 7 76126704 76126704 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 76126704 76126704 C T SNP DTX2 ENST00000324432 human ensembl 69_37n +1 known missense c.1060 p.R354C 1.000 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 Clone_based_vega_gene ENSG00000091073 98 0 0.00 130 48 26.97 - - - EDNRB 0 genome.wustl.edu 37 13 78477305 78477305 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 13 78477305 78477305 T C SNP EDNRB ENST00000334286 human ensembl 69_37n -1 known missense c.787 p.T263A 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ETB_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ETB_rcpt,prints_Endthln_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Bombsn_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors EDNRB HGNC ENSG00000136160 210 1 0.47 64 41 39.05 - - - ENPP4 0 genome.wustl.edu 37 6 46107649 46107650 + Frame_Shift_Ins INS - - T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 6 46107649 46107650 - T INS ENPP4 ENST00000321037 human ensembl 69_37n +1 known frame_shift_ins c.329_330 p.W112fs 1.000:0.956 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 86 0 0.00 30 15 33.33 - - - EPAS1 0 genome.wustl.edu 37 2 46607728 46607728 + Nonsense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 46607728 46607728 G A SNP EPAS1 ENST00000263734 human ensembl 69_37n +1 known nonsense c.1917 p.W639* 1.000 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 26 0 0.00 40 10 19.61 - - - FAM123B 0 genome.wustl.edu 37 X 63411278 63411278 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 63411278 63411278 G A SNP FAM123B ENST00000330258 human ensembl 69_37n -1 known missense c.1889 p.A630V 0.001 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 38 0 0.00 36 25 40.98 - - - FAM151B 0 genome.wustl.edu 37 5 79797660 79797660 + Silent SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 5 79797660 79797660 T C SNP FAM151B ENST00000282226 human ensembl 69_37n +1 known silent c.75 p.I25 0.985 NULL pfam_DUF2181 - no_errors FAM151B HGNC ENSG00000152380 142 0 0.00 152 50 24.75 - - - FAM171A1 0 genome.wustl.edu 37 10 15262985 15262985 + Frame_Shift_Del DEL G G - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 15262985 15262985 G - DEL FAM171A1 ENST00000378116 human ensembl 69_37n -1 known frame_shift_del c.829 p.Q277fs 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 45 0 0.00 24 12 32.43 - - - FAM173B 0 genome.wustl.edu 37 5 10239163 10239163 + Frame_Shift_Del DEL T T - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 5 10239163 10239163 T - DEL FAM173B ENST00000504390 human ensembl 69_37n -1 known frame_shift_del c.322 p.T108fs 0.000 NULL NULL - no_errors FAM173B HGNC ENSG00000150756 119 0 0.00 117 17 12.69 - - - FAM208A 0 genome.wustl.edu 37 3 56667416 56667416 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 56667416 56667416 C T SNP FAM208A ENST00000355628 human ensembl 69_37n -1 known missense c.3220 p.E1074K 0.405 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 217 0 0.00 126 50 28.41 - - - FAM35B 0 genome.wustl.edu 37 10 46927960 46927963 + RNA DEL ACAA ACAA - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 46927960 46927963 ACAA - DEL FAM35B ENST00000497389 human ensembl 69_37n +1 known rna NULL NULL 0.998:0.988:0.986:0.965 - - - no_errors FAM35B HGNC ENSG00000165874 142 0 0.00 105 31 22.79 - - - FAM47A 0 genome.wustl.edu 37 X 34148695 34148695 + Missense_Mutation SNP A A T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 34148695 34148695 A T SNP FAM47A ENST00000346193 human ensembl 69_37n -1 known missense c.1701 p.H567Q 0.003 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 274 0 0.00 306 67 17.91 - - - FAM47A 0 genome.wustl.edu 37 X 34150200 34150200 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 34150200 34150200 C T SNP FAM47A ENST00000346193 human ensembl 69_37n -1 known missense c.196 p.E66K 0.002 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 193 0 0.00 226 29 11.28 - - - FAM73A 0 genome.wustl.edu 37 1 78272735 78272735 + Missense_Mutation SNP A A T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 78272735 78272735 A T SNP FAM73A ENST00000370791 human ensembl 69_37n +1 known missense c.586 p.I196F 0.198 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 332 0 0.00 291 152 34.31 - - - FBXO15 0 genome.wustl.edu 37 18 71807443 71807443 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 18 71807443 71807443 A G SNP FBXO15 ENST00000419743 human ensembl 69_37n -1 known missense c.221 p.L74P 0.903 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO15 HGNC ENSG00000141665 113 0 0.00 97 38 28.15 - - - FBXW10 0 genome.wustl.edu 37 17 18682399 18682399 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 17 18682399 18682399 A G SNP FBXW10 ENST00000308799 human ensembl 69_37n +1 known missense c.2974 p.T992A 0.609 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW10 HGNC ENSG00000171931 95 0 0.00 28 7 20.00 - - - FCGR2A 0 genome.wustl.edu 37 1 161487829 161487829 + Missense_Mutation SNP A A C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 161487829 161487829 A C SNP FCGR2A ENST00000271450 human ensembl 69_37n +1 known missense c.845 p.E282A 0.009 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR2A HGNC ENSG00000143226 374 0 0.00 470 62 11.61 - - - FKBP15 0 genome.wustl.edu 37 9 115936859 115936859 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 9 115936859 115936859 A G SNP FKBP15 ENST00000238256 human ensembl 69_37n -1 known missense c.2228 p.L743P 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 138 0 0.00 116 22 15.83 - - - FKBP9 0 genome.wustl.edu 37 7 33044891 33044891 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 33044891 33044891 G A SNP FKBP9 ENST00000538336 human ensembl 69_37n +1 known silent c.1800 p.R600 0.990 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC ENSG00000122642 520 0 0.00 613 75 10.90 - - - FLII 0 genome.wustl.edu 37 17 18149770 18149770 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 17 18149770 18149770 G A SNP FLII ENST00000327031 human ensembl 69_37n -1 known missense c.3058 p.R1020C 1.000 smart_Gelsolin pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin - no_errors FLII HGNC ENSG00000177731 118 0 0.00 39 58 59.79 - - - FLNC 0 genome.wustl.edu 37 7 128488091 128488091 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 128488091 128488091 G A SNP FLNC ENST00000325888 human ensembl 69_37n +1 known missense c.4549 p.V1517I 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 17 0 0.00 19 14 42.42 - - - FLRT3 0 genome.wustl.edu 37 20 14307596 14307596 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 20 14307596 14307596 C T SNP FLRT3 ENST00000341420 human ensembl 69_37n -1 known missense c.557 p.R186H 1.000 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 134 0 0.00 51 17 25.00 - - - FLYWCH1 0 genome.wustl.edu 37 16 2983745 2983745 + Frame_Shift_Del DEL G G - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 16 2983745 2983745 G - DEL FLYWCH1 ENST00000399667 human ensembl 69_37n +1 known frame_shift_del c.1278 p.G428fs 0.959 pfam_Znf_FLYWCH pfam_Znf_FLYWCH - no_errors FLYWCH1 HGNC ENSG00000059122 62 0 0.00 91 15 14.02 - - - FMR1 0 genome.wustl.edu 37 X 147026442 147026442 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 147026442 147026442 G A SNP FMR1 ENST00000370475 human ensembl 69_37n +1 known missense c.1525 p.E509K 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 253 0 0.00 193 43 18.22 - - - FOXD4L1 0 genome.wustl.edu 37 2 114257228 114257228 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 114257228 114257228 G A SNP FOXD4L1 ENST00000306507 human ensembl 69_37n +1 known missense c.395 p.G132D 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 74 0 0.00 64 33 34.02 - - - FOXM1 0 genome.wustl.edu 37 12 2968543 2968543 + Missense_Mutation SNP C C A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 2968543 2968543 C A SNP FOXM1 ENST00000342628 human ensembl 69_37n -1 known missense c.1667 p.S556I 0.001 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 145 0 0.00 123 44 26.35 - - - FUT10 0 genome.wustl.edu 37 8 33318928 33318928 + Splice_Site SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 8 33318928 33318928 A G SNP FUT10 ENST00000524021 human ensembl 69_37n -1 novel splice_site c.1+2 e0+2 0.704 - - - no_errors FUT10 HGNC ENSG00000172728 105 0 0.00 82 39 32.23 - - - FZD9 0 genome.wustl.edu 37 7 72849076 72849076 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 72849076 72849076 G A SNP FZD9 ENST00000344575 human ensembl 69_37n +1 known missense c.739 p.A247T 0.999 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD9 HGNC ENSG00000188763 61 0 0.00 41 18 30.00 - - - GALNT11 0 genome.wustl.edu 37 7 151805352 151805352 + Missense_Mutation SNP G G T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 151805352 151805352 G T SNP GALNT11 ENST00000320311 human ensembl 69_37n +1 known missense c.942 p.E314D 0.138 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT11 HGNC ENSG00000178234 51 0 0.00 56 17 23.29 - - - GALNTL5 0 genome.wustl.edu 37 7 151699798 151699798 + Splice_Site SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 151699798 151699798 G A SNP GALNTL5 ENST00000392800 human ensembl 69_37n +1 known splice_site c.659-1 e5-1 1.000 - - - no_errors GALNTL5 HGNC ENSG00000106648 155 0 0.00 104 43 29.25 - - - GBF1 0 genome.wustl.edu 37 10 104122393 104122393 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 104122393 104122393 A G SNP GBF1 ENST00000369983 human ensembl 69_37n +1 known missense c.1845 p.I615M 0.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC ENSG00000107862 259 0 0.00 237 96 28.83 - - - GDI1 0 genome.wustl.edu 37 X 153667353 153667353 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 153667353 153667353 G A SNP GDI1 ENST00000447750 human ensembl 69_37n +1 known silent c.255 p.G85 0.978 pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC ENSG00000203879 77 0 0.00 80 20 20.00 - - - GGT5 0 genome.wustl.edu 37 22 24621312 24621312 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 22 24621312 24621312 T C SNP GGT5 ENST00000425408 human ensembl 69_37n -1 putative missense c.212 p.H71R 0.042 pfam_GGT_peptidase,prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GGT5 HGNC ENSG00000099998 55 0 0.00 17 22 55.00 - - - GINS4 0 genome.wustl.edu 37 8 41397268 41397268 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 8 41397268 41397268 G A SNP GINS4 ENST00000276533 human ensembl 69_37n +1 known silent c.369 p.S123 0.817 pfam_GINS_complex,pirsf_GINS_Sld5 pfam_GINS_complex,pirsf_GINS_Sld5 - no_errors GINS4 HGNC ENSG00000147536 107 0 0.00 118 14 10.61 - - - GJB3 0 genome.wustl.edu 37 1 35250494 35250495 + Frame_Shift_Del DEL GG GG - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 35250494 35250495 GG - DEL GJB3 ENST00000373362 human ensembl 69_37n +1 known frame_shift_del c.131_132 p.D46fs 1.000:1.000 pfam_Connexin_N,smart_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31 - no_errors GJB3 HGNC ENSG00000188910 154 0 0.00 153 74 32.60 - - - GLTSCR1 0 genome.wustl.edu 37 19 48197891 48197891 + Frame_Shift_Del DEL C C - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 19 48197891 48197891 C - DEL GLTSCR1 ENST00000396720 human ensembl 69_37n +1 known frame_shift_del c.2803 p.P937fs 0.226 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 19 0 0.00 22 13 37.14 - - - GOLGA6L7P 0 genome.wustl.edu 37 15 29090683 29090684 + RNA INS - - G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 15 29090683 29090684 - G INS GOLGA6L7P ENST00000569815 human ensembl 69_37n -1 putative rna NULL NULL 0.001:0.001 - - - no_errors GOLGA6L7P HGNC ENSG00000261649 11 0 0.00 5 7 58.33 - - - GPR101 0 genome.wustl.edu 37 X 136113257 136113257 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 136113257 136113257 T C SNP GPR101 ENST00000298110 human ensembl 69_37n -1 known missense c.577 p.T193A 0.993 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 25 0 0.00 25 5 16.67 - - - GPS1 0 genome.wustl.edu 37 17 80010320 80010320 + Splice_Site SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 17 80010320 80010320 T C SNP GPS1 ENST00000578392 human ensembl 69_37n +1 known splice_site c.220+2 e2+2 0.998 - - - no_errors GPS1 HGNC ENSG00000169727 23 0 0.00 22 11 33.33 - - - GPSM1 0 genome.wustl.edu 37 9 139243205 139243206 + Frame_Shift_Del DEL CT CT - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 9 139243205 139243206 CT - DEL GPSM1 ENST00000440944 human ensembl 69_37n +1 known frame_shift_del c.1264_1265 p.L422fs 1.000:1.000 NULL pfam_GoLoco_motif,pfam_TPR-1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM1 HGNC ENSG00000160360 20 0 0.00 19 10 33.33 - - - GRIN2A 0 genome.wustl.edu 37 16 9858202 9858202 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 16 9858202 9858202 G A SNP GRIN2A ENST00000330684 human ensembl 69_37n -1 known missense c.3199 p.R1067W 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 91 0 0.00 93 15 13.89 - - - GRM3 0 genome.wustl.edu 37 7 86468223 86468223 + Nonsense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 86468223 86468223 C T SNP GRM3 ENST00000361669 human ensembl 69_37n +1 known nonsense c.1393 p.R465* 0.677 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C - no_errors GRM3 HGNC ENSG00000198822 134 0 0.00 72 27 27.27 - - - GRWD1 0 genome.wustl.edu 37 19 48953639 48953639 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 19 48953639 48953639 C T SNP GRWD1 ENST00000253237 human ensembl 69_37n +1 known silent c.538 p.L180 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GRWD1 HGNC ENSG00000105447 131 1 0.76 126 83 39.52 - - - GTPBP3 0 genome.wustl.edu 37 19 17450401 17450401 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 19 17450401 17450401 C T SNP GTPBP3 ENST00000358792 human ensembl 69_37n +1 known missense c.1063 p.R355W 0.959 pfam_GTP_binding_domain,tigrfam_Small_GTP-bd_dom pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP3 HGNC ENSG00000130299 41 0 0.00 38 18 31.58 - - - GYS1 0 genome.wustl.edu 37 19 49490492 49490492 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 19 49490492 49490492 C T SNP GYS1 ENST00000323798 human ensembl 69_37n -1 known missense c.451 p.A151T 1.000 pfam_Glycogen_synth,pfam_Starch_synth_cat_dom pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 72 0 0.00 52 39 42.39 - - - HBP1 0 genome.wustl.edu 37 7 106836466 106836466 + Frame_Shift_Del DEL A A - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 106836466 106836466 A - DEL HBP1 ENST00000222574 human ensembl 69_37n +1 known frame_shift_del c.1255 p.N420fs 1.000 superfamily_HMG_superfamily pfam_Ataxin-1_HBP1,pfam_HMG_superfamily,superfamily_Ataxin-1_HBP1,superfamily_HMG_superfamily,smart_Ataxin_AXH_dom,smart_HMG_superfamily,pfscan_Ataxin-1_HBP1,pfscan_HMG_superfamily - no_errors HBP1 HGNC ENSG00000105856 173 0 0.00 189 22 10.33 - - - HDGFRP2 0 genome.wustl.edu 37 19 4493798 4493799 + In_Frame_Ins INS - - TCC TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 19 4493798 4493799 - TCC INS HDGFRP2 ENST00000301284 human ensembl 69_37n +1 known in_frame_ins c.777_778 p.263in_frame_insS 0.004:0.060 NULL pfam_LEDGF,pfam_PWWP,smart_PWWP,pfscan_PWWP - no_errors CTB-50L17.10 Clone_based_vega_gene ENSG00000167674 17 0 0.00 10 3 23.08 - - - HEATR1 0 genome.wustl.edu 37 1 236727799 236727799 + Frame_Shift_Del DEL T T - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 236727799 236727799 T - DEL HEATR1 ENST00000366582 human ensembl 69_37n -1 known frame_shift_del c.4598 p.K1533fs 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 246 0 0.00 201 116 35.58 - - - HECTD2 0 genome.wustl.edu 37 10 93247499 93247499 + Missense_Mutation SNP G G C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 93247499 93247499 G C SNP HECTD2 ENST00000446394 human ensembl 69_37n +1 known missense c.1167 p.Q389H 0.730 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 347 1 0.29 319 51 13.78 - - - HGFAC 0 genome.wustl.edu 37 4 3451048 3451048 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 4 3451048 3451048 C T SNP HGFAC ENST00000382774 human ensembl 69_37n +1 known missense c.1870 p.R624W 0.008 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors HGFAC HGNC ENSG00000109758 21 0 0.00 12 8 38.10 - - - HIVEP2 0 genome.wustl.edu 37 6 143095539 143095539 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 6 143095539 143095539 T C SNP HIVEP2 ENST00000012134 human ensembl 69_37n -1 known missense c.337 p.T113A 0.917 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 95 0 0.00 32 6 14.63 - - - IDS 0 genome.wustl.edu 37 X 148579795 148579795 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 148579795 148579795 C T SNP IDS ENST00000340855 human ensembl 69_37n -1 known missense c.551 p.C184Y 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 76 0 0.00 68 32 31.68 - - - IFNA16 0 genome.wustl.edu 37 9 21216922 21216922 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 9 21216922 21216922 C T SNP IFNA16 ENST00000380216 human ensembl 69_37n -1 known missense c.383 p.G128E 0.001 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA16 HGNC ENSG00000147885 380 0 0.00 230 94 29.01 - - - IL25 0 genome.wustl.edu 37 14 23844943 23844943 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 14 23844943 23844943 T C SNP IL25 ENST00000329715 human ensembl 69_37n +1 known missense c.388 p.S130P 0.999 pfam_Interleukin-17 pfam_Interleukin-17 - no_errors IL25 HGNC ENSG00000166090 54 0 0.00 69 13 15.85 - - - IMPG2 0 genome.wustl.edu 37 3 100992437 100992439 + In_Frame_Del DEL TTC TTC - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 100992437 100992439 TTC - DEL IMPG2 ENST00000193391 human ensembl 69_37n -1 known in_frame_del c.816_814 p.E272in_frame_del 0.920:0.979:0.983 pfam_SEA,smart_SEA pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC ENSG00000081148 357 0 0.00 294 148 33.11 - - - INTS4 0 genome.wustl.edu 37 11 77618841 77618841 + Silent SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 77618841 77618841 A G SNP INTS4 ENST00000534064 human ensembl 69_37n -1 known silent c.1938 p.L646 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 184 0 0.00 178 94 34.56 - - - INTS8 0 genome.wustl.edu 37 8 95869179 95869179 + Nonsense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 8 95869179 95869179 C T SNP INTS8 ENST00000523731 human ensembl 69_37n +1 known nonsense c.1927 p.R643* 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 86 0 0.00 56 39 41.05 - - - ITGB2 0 genome.wustl.edu 37 21 46310051 46310051 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 21 46310051 46310051 T C SNP ITGB2 ENST00000302347 human ensembl 69_37n -1 known missense c.1499 p.D500G 1.000 pirsf_Integrin_bsu,pfam_EGF_extracell pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 39 0 0.00 26 16 38.10 - - - IYD 0 genome.wustl.edu 37 6 150715323 150715323 + Frame_Shift_Del DEL A A - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 6 150715323 150715323 A - DEL IYD ENST00000229447 human ensembl 69_37n +1 known frame_shift_del c.619 p.V209fs 1.000 pfam_Nitroreductase-like,superfamily_Nitroreductase-like pfam_Nitroreductase-like,superfamily_Nitroreductase-like - no_errors IYD HGNC ENSG00000009765 225 0 0.00 88 80 45.98 - - - KAT6B 0 genome.wustl.edu 37 10 76789124 76789124 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 76789124 76789124 G A SNP KAT6B ENST00000287239 human ensembl 69_37n +1 known silent c.4542 p.K1514 0.803 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 167 0 0.00 97 57 37.01 - - - KCNB2 0 genome.wustl.edu 37 8 73480397 73480397 + Frame_Shift_Del DEL A A - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 8 73480397 73480397 A - DEL KCNB2 ENST00000523207 human ensembl 69_37n +1 known frame_shift_del c.428 p.E146fs 1.000 prints_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 163 0 0.00 161 67 29.13 - - - KCNH3 0 genome.wustl.edu 37 12 49934840 49934840 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 49934840 49934840 G A SNP KCNH3 ENST00000257981 human ensembl 69_37n +1 known missense c.235 p.V79I 0.968 pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,pfscan_PAS,tigrfam_PAS pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 41 0 0.00 40 20 32.79 - - - KDM6A 0 genome.wustl.edu 37 X 44945128 44945128 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 44945128 44945128 A G SNP KDM6A ENST00000382899 human ensembl 69_37n +1 known missense c.3473 p.N1158S 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_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 633 0 0.00 482 226 31.88 - - - KIAA0240 0 genome.wustl.edu 37 6 42797791 42797791 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 6 42797791 42797791 C T SNP KIAA0240 ENST00000314073 human ensembl 69_37n +1 known missense c.1720 p.P574S 1.000 NULL NULL - no_errors KIAA0240 HGNC ENSG00000112624 121 0 0.00 140 19 11.95 - - - KIAA0947 0 genome.wustl.edu 37 5 5465333 5465333 + Frame_Shift_Del DEL A A - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 5 5465333 5465333 A - DEL KIAA0947 ENST00000296564 human ensembl 69_37n +1 known frame_shift_del c.5886 p.K1964fs 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 271 0 0.00 203 92 31.19 - - - KIAA2026 0 genome.wustl.edu 37 9 5969043 5969043 + Frame_Shift_Del DEL T T - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 9 5969043 5969043 T - DEL KIAA2026 ENST00000399933 human ensembl 69_37n -1 novel frame_shift_del c.1188 p.K396fs 0.974 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 82 0 0.00 57 20 25.32 - - - KIF22 0 genome.wustl.edu 37 16 29809769 29809769 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 16 29809769 29809769 A G SNP KIF22 ENST00000160827 human ensembl 69_37n +1 known missense c.341 p.H114R 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 110 0 0.00 103 53 33.97 - - - KLHL7 0 genome.wustl.edu 37 7 23145676 23145678 + In_Frame_Del DEL AAG AAG - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 23145676 23145678 AAG - DEL KLHL7 ENST00000339077 human ensembl 69_37n +1 known in_frame_del c.31_33 p.K13in_frame_del 1.000:1.000:1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 66 0 0.00 75 31 29.25 - - - KRT75 0 genome.wustl.edu 37 12 52818365 52818365 + Frame_Shift_Del DEL C C - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 52818365 52818365 C - DEL KRT75 ENST00000252245 human ensembl 69_37n -1 known frame_shift_del c.1592 p.G531fs 0.993 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 133 0 0.00 127 51 28.65 - - - KRTCAP2 0 genome.wustl.edu 37 1 155145235 155145235 + Silent SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 155145235 155145235 A G SNP KRTCAP2 ENST00000295682 human ensembl 69_37n -1 known silent c.216 p.G72 0.999 pfam_Uncharacterised_KRTCAP2 pfam_Uncharacterised_KRTCAP2 - no_errors KRTCAP2 HGNC ENSG00000163463 94 0 0.00 117 17 12.50 - - - L1TD1 0 genome.wustl.edu 37 1 62672476 62672476 + Missense_Mutation SNP T T A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 62672476 62672476 T A SNP L1TD1 ENST00000498273 human ensembl 69_37n +1 known missense c.176 p.M59K 0.616 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 84 0 0.00 90 20 18.18 - - - LAMA3 0 genome.wustl.edu 37 18 21419894 21419894 + Splice_Site SNP G G T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 18 21419894 21419894 G T SNP LAMA3 ENST00000313654 human ensembl 69_37n +1 known splice_site c.3336+1 e27+1 1.000 - - - no_errors LAMA3 HGNC ENSG00000053747 126 0 0.00 73 65 47.10 - - - LCT 0 genome.wustl.edu 37 2 136558374 136558374 + Missense_Mutation SNP A A T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 136558374 136558374 A T SNP LCT ENST00000264162 human ensembl 69_37n -1 known missense c.4669 p.S1557T 0.992 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 68 0 0.00 63 10 13.70 - - - LGR5 0 genome.wustl.edu 37 12 71974205 71974205 + Splice_Site SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 71974205 71974205 T C SNP LGR5 ENST00000266674 human ensembl 69_37n +1 known splice_site c.1552+2 e16+2 1.000 - - - no_errors LGR5 HGNC ENSG00000139292 256 1 0.39 242 28 10.33 - - - LOC100132247 0 genome.wustl.edu 37 16 22503114 22503114 + RNA SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 16 22503114 22503114 T C SNP LOC100132247 ENST00000415654 human ensembl 69_37n +1 known rna NULL NULL 0.942 - - - no_errors RP11-368J21.2 Clone_based_vega_gene ENSG00000243716 51 0 0.00 77 15 16.30 - - - LOXL3 0 genome.wustl.edu 37 2 74761116 74761116 + Missense_Mutation SNP A A T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 74761116 74761116 A T SNP LOXL3 ENST00000264094 human ensembl 69_37n -1 known missense c.2081 p.V694D 1.000 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Lysyl_oxidase,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors LOXL3 HGNC ENSG00000115318 434 1 0.23 521 100 16.08 - - - LRIT1 0 genome.wustl.edu 37 10 86001143 86001144 + Frame_Shift_Ins INS - - G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 86001143 86001144 - G INS LRIT1 ENST00000372105 human ensembl 69_37n -1 known frame_shift_ins c.53_52 p.Q18fs 0.289:0.600 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRIT1 HGNC ENSG00000148602 9 0 0.00 8 6 42.86 - - - LRP4 0 genome.wustl.edu 37 11 46898298 46898298 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 46898298 46898298 T C SNP LRP4 ENST00000378623 human ensembl 69_37n -1 known missense c.3361 p.T1121A 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP4 HGNC ENSG00000134569 57 0 0.00 69 11 13.75 - - - LRRC16B 0 genome.wustl.edu 37 14 24532703 24532703 + Frame_Shift_Del DEL C C - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 14 24532703 24532703 C - DEL LRRC16B ENST00000342740 human ensembl 69_37n +1 known frame_shift_del c.2940 p.R983fs 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 47 0 0.00 37 14 26.92 - - - LRRC63 0 genome.wustl.edu 37 13 46844470 46844471 + Frame_Shift_Ins INS - - G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 13 46844470 46844471 - G INS LRRC63 ENST00000446175 human ensembl 69_37n +1 known frame_shift_ins c.1552_1553 p.A520fs 0.669:0.849 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC ENSG00000173988 128 0 0.00 159 69 30.26 - - - LRTM1 0 genome.wustl.edu 37 3 54952776 54952776 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 54952776 54952776 C T SNP LRTM1 ENST00000273286 human ensembl 69_37n -1 known missense c.748 p.A250T 0.020 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 66 0 0.00 20 34 62.96 - - - LUZP4 0 genome.wustl.edu 37 X 114536623 114536623 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 114536623 114536623 A G SNP LUZP4 ENST00000371920 human ensembl 69_37n +1 known missense c.158 p.N53S 0.000 NULL NULL - no_errors LUZP4 HGNC ENSG00000102021 348 0 0.00 253 169 39.95 - - - LYG2 0 genome.wustl.edu 37 2 99858889 99858889 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 99858889 99858889 C T SNP LYG2 ENST00000333017 human ensembl 69_37n -1 known missense c.577 p.D193N 0.995 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 pfam_Lytic_TGlycosylase-like_cat,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG2 HGNC ENSG00000185674 176 0 0.00 125 43 25.60 - - - MAGEB4 0 genome.wustl.edu 37 X 30260720 30260720 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 30260720 30260720 G A SNP MAGEB4 ENST00000378982 human ensembl 69_37n +1 known silent c.468 p.Q156 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 79 0 0.00 83 28 25.23 - - - MAML3 0 genome.wustl.edu 37 4 140640648 140640648 + Silent SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 4 140640648 140640648 T C SNP MAML3 ENST00000509479 human ensembl 69_37n -1 known silent c.3246 p.Q1082 0.497 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 51 0 0.00 47 35 42.68 - - - MAN2A2 0 genome.wustl.edu 37 15 91453858 91453858 + Nonsense_Mutation SNP C C A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 15 91453858 91453858 C A SNP MAN2A2 ENST00000558171 human ensembl 69_37n +1 novel nonsense c.266 p.S89* 1.000 pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom pfam_Glyco_hydro_38_cen_dom,pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd,smart_Glyco_hydro_38_cen_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MAN2A2 HGNC ENSG00000196547 70 0 0.00 78 11 12.36 - - - MAP2K4 0 genome.wustl.edu 37 17 12028690 12028690 + Splice_Site SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 17 12028690 12028690 T C SNP MAP2K4 ENST00000415385 human ensembl 69_37n +1 known splice_site c.924+2 e9+2 1.000 - - - no_errors MAP2K4 HGNC ENSG00000065559 311 1 0.32 118 152 56.30 - - - MAP3K8 0 genome.wustl.edu 37 10 30747044 30747044 + Missense_Mutation SNP G G T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 30747044 30747044 G T SNP MAP3K8 ENST00000263056 human ensembl 69_37n +1 known missense c.905 p.R302M 0.994 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 MAP3K8 HGNC ENSG00000107968 85 0 0.00 81 11 11.96 - - - MAPKBP1 0 genome.wustl.edu 37 15 42110267 42110267 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 15 42110267 42110267 C T SNP MAPKBP1 ENST00000456763 human ensembl 69_37n +1 known silent c.1983 p.D661 0.998 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 68 0 0.00 83 36 30.25 - - - MBD1 0 genome.wustl.edu 37 18 47803052 47803052 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 18 47803052 47803052 G A SNP MBD1 ENST00000424334 human ensembl 69_37n -1 known missense c.533 p.T178M 0.989 NULL pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 117 0 0.00 75 37 33.04 - - - MBOAT4 0 genome.wustl.edu 37 8 29990074 29990074 + Silent SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 8 29990074 29990074 T C SNP MBOAT4 ENST00000320542 human ensembl 69_37n -1 known silent c.693 p.G231 0.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT4 HGNC ENSG00000177669 119 0 0.00 112 14 11.02 - - - MCU 0 genome.wustl.edu 37 10 74618991 74618991 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 74618991 74618991 C T SNP MCU ENST00000373053 human ensembl 69_37n +1 known missense c.277 p.R93W 1.000 NULL pfam_Coiled-coil-dom_prot_109_C - no_errors MCU HGNC ENSG00000156026 337 0 0.00 255 119 31.82 - - - MED23 0 genome.wustl.edu 37 6 131923494 131923495 + Frame_Shift_Del DEL TA TA - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 6 131923494 131923495 TA - DEL MED23 ENST00000368058 human ensembl 69_37n -1 known frame_shift_del c.1977_1976 p.I659fs 0.995:1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 232 0 0.00 53 49 47.57 - - - MEGF8 0 genome.wustl.edu 37 19 42841287 42841289 + In_Frame_Del DEL TCT TCT - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 19 42841287 42841289 TCT - DEL MEGF8 ENST00000251268 human ensembl 69_37n +1 known in_frame_del c.1442_1444 p.F483in_frame_del 1.000:1.000:1.000 NULL pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 67 0 0.00 74 15 16.85 - - - MLH1 0 genome.wustl.edu 37 3 37042542 37042542 + Nonsense_Mutation SNP G G T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 37042542 37042542 G T SNP MLH1 ENST00000231790 human ensembl 69_37n +1 known nonsense c.304 p.E102* 1.000 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N - no_errors MLH1 HGNC ENSG00000076242 358 0 0.00 114 127 52.48 - - - MMP20 0 genome.wustl.edu 37 11 102465418 102465418 + Frame_Shift_Del DEL G G - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 102465418 102465418 G - DEL MMP20 ENST00000260228 human ensembl 69_37n -1 known frame_shift_del c.1024 p.Q342fs 1.000 pirsf_Pept_M10A_matrix_strom,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP20 HGNC ENSG00000137674 132 0 0.00 106 17 13.60 - - - MMP20 0 genome.wustl.edu 37 11 102487558 102487558 + Frame_Shift_Del DEL T T - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 102487558 102487558 T - DEL MMP20 ENST00000260228 human ensembl 69_37n -1 known frame_shift_del c.359 p.N120fs 0.999 pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP20 HGNC ENSG00000137674 179 0 0.00 139 71 33.65 - - - MORN1 0 genome.wustl.edu 37 1 2319730 2319730 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 2319730 2319730 C T SNP MORN1 ENST00000449373 human ensembl 69_37n -1 known missense c.47 p.R16H 0.041 NULL NULL - no_start_codon MORN1 HGNC ENSG00000116151 197 0 0.00 155 83 34.87 - - - MRGPRX1 0 genome.wustl.edu 37 11 18955816 18955816 + Nonsense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 18955816 18955816 C T SNP MRGPRX1 ENST00000302797 human ensembl 69_37n -1 known nonsense c.516 p.W172* 0.009 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 299 0 0.00 245 142 36.69 - - - MTHFD1 0 genome.wustl.edu 37 14 64891576 64891576 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 14 64891576 64891576 C T SNP MTHFD1 ENST00000216605 human ensembl 69_37n +1 known missense c.950 p.A317V 1.000 pfam_THF_DH/CycHdrlase_NAD-bd_dom,prints_THF_DH/CycHdrlase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC ENSG00000100714 145 0 0.00 214 33 13.15 - - - MUC5B 0 genome.wustl.edu 37 11 1268579 1268579 + Missense_Mutation SNP T T G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 1268579 1268579 T G SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.10478 p.V3493G 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 290 0 0.00 238 95 28.44 - - - MYBL1 0 genome.wustl.edu 37 8 67488453 67488453 + Frame_Shift_Del DEL T T - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 8 67488453 67488453 T - DEL MYBL1 ENST00000522677 human ensembl 69_37n -1 known frame_shift_del c.1259 p.N420fs 0.992 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 381 0 0.00 271 228 44.88 - - - MYH15 0 genome.wustl.edu 37 3 108129537 108129537 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 108129537 108129537 T C SNP MYH15 ENST00000273353 human ensembl 69_37n -1 known missense c.4448 p.Q1483R 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 67 0 0.00 62 40 38.83 - - - MYH15 0 genome.wustl.edu 37 3 108189615 108189615 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 108189615 108189615 G A SNP MYH15 ENST00000273353 human ensembl 69_37n -1 known missense c.1373 p.A458V 0.007 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 127 0 0.00 91 43 31.39 - - - MYT1L 0 genome.wustl.edu 37 2 1946770 1946771 + In_Frame_Ins INS - - TCC TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 1946770 1946771 - TCC INS MYT1L ENST00000399161 human ensembl 69_37n -1 known in_frame_ins c.489_488 p.167in_frame_insE 0.991:0.950 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 170 0 0.00 221 49 18.15 - - - NAA20 0 genome.wustl.edu 37 20 20003100 20003100 + Silent SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 20 20003100 20003100 T C SNP NAA20 ENST00000334982 human ensembl 69_37n +1 known silent c.54 p.I18 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA20 HGNC ENSG00000173418 479 0 0.00 509 77 13.14 - - - NALCN 0 genome.wustl.edu 37 13 101714459 101714459 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 13 101714459 101714459 T C SNP NALCN ENST00000251127 human ensembl 69_37n -1 known missense c.4616 p.Y1539C 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 38 0 0.00 28 30 50.85 - - - NAT10 0 genome.wustl.edu 37 11 34164994 34164994 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 34164994 34164994 A G SNP NAT10 ENST00000257829 human ensembl 69_37n +1 known missense c.2888 p.Y963C 1.000 NULL pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT10 HGNC ENSG00000135372 382 0 0.00 428 96 18.29 - - - NEK9 0 genome.wustl.edu 37 14 75577041 75577041 + Silent SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 14 75577041 75577041 T C SNP NEK9 ENST00000238616 human ensembl 69_37n -1 known silent c.972 p.A324 0.999 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 609 1 0.16 662 88 11.72 - - - NKD2 0 genome.wustl.edu 37 5 1033615 1033615 + Splice_Site SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 5 1033615 1033615 G A SNP NKD2 ENST00000296849 human ensembl 69_37n +1 known splice_site c.330+1 e5+1 0.284 - - - no_errors NKD2 HGNC ENSG00000145506 20 0 0.00 12 4 25.00 - - - NLGN3 0 genome.wustl.edu 37 X 70389300 70389300 + Missense_Mutation SNP C C A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 70389300 70389300 C A SNP NLGN3 ENST00000358741 human ensembl 69_37n +1 known missense c.1900 p.L634M 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 111 0 0.00 89 51 36.43 - - - NOL9 0 genome.wustl.edu 37 1 6610529 6610529 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 6610529 6610529 G A SNP NOL9 ENST00000377705 human ensembl 69_37n -1 known silent c.543 p.Y181 0.001 NULL pfam_Pre-mRNA_cleavage_cplxII_Clp1 - no_errors NOL9 HGNC ENSG00000162408 281 0 0.00 245 150 37.97 - - - NPR2 0 genome.wustl.edu 37 9 35792578 35792578 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 9 35792578 35792578 G A SNP NPR2 ENST00000342694 human ensembl 69_37n +1 known missense c.173 p.R58Q 1.000 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 16 0 0.00 12 4 25.00 - - - NR1D1 0 genome.wustl.edu 37 17 38252334 38252334 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 17 38252334 38252334 C T SNP NR1D1 ENST00000246672 human ensembl 69_37n -1 known missense c.611 p.R204H 1.000 prints_Str_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 11 0 0.00 7 5 38.46 - - - NRXN1 0 genome.wustl.edu 37 2 50758375 50758375 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 50758375 50758375 C T SNP NRXN1 ENST00000402717 human ensembl 69_37n -1 known silent c.2313 p.T771 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 140 0 0.00 67 31 31.63 - - - ODZ1 0 genome.wustl.edu 37 X 123657271 123657271 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 123657271 123657271 C T SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known silent c.2976 p.P992 0.956 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 302 1 0.33 185 115 38.33 - - - ODZ3 0 genome.wustl.edu 37 4 183714372 183714372 + Nonsense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 4 183714372 183714372 C T SNP ODZ3 ENST00000406950 human ensembl 69_37n +1 known nonsense c.6547 p.R2183* 0.997 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 169 0 0.00 121 86 41.55 - - - OFCC1 0 genome.wustl.edu 37 6 9897162 9897162 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 6 9897162 9897162 A G SNP OFCC1 ENST00000469656 human ensembl 69_37n -1 known missense c.311 p.L104P 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region OFCC1 HGNC ENSG00000181355 189 0 0.00 198 79 28.52 - - - OR5T2 0 genome.wustl.edu 37 11 55999765 55999765 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 55999765 55999765 C T SNP OR5T2 ENST00000313264 human ensembl 69_37n -1 known silent c.897 p.V299 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5T2 HGNC ENSG00000181718 257 0 0.00 240 33 12.09 - - - OSBPL1A 0 genome.wustl.edu 37 18 21759703 21759703 + Nonsense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 18 21759703 21759703 G A SNP OSBPL1A ENST00000319481 human ensembl 69_37n -1 known nonsense c.1909 p.R637* 0.999 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 178 0 0.00 138 92 40.00 - - - PCBP2 0 genome.wustl.edu 37 12 53848642 53848642 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 53848642 53848642 A G SNP PCBP2 ENST00000546463 human ensembl 69_37n +1 known missense c.58 p.M20V 1.000 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP2 HGNC ENSG00000197111 169 0 0.00 135 59 30.26 - - - PCDHGA3 0 genome.wustl.edu 37 5 140724340 140724340 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 5 140724340 140724340 A G SNP PCDHGA3 ENST00000253812 human ensembl 69_37n +1 known missense c.740 p.Y247C 0.997 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 56 0 0.00 54 25 31.65 - - - PCDHGB7 0 genome.wustl.edu 37 5 140799608 140799608 + Missense_Mutation SNP G G C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 5 140799608 140799608 G C SNP PCDHGB7 ENST00000398594 human ensembl 69_37n +1 known missense c.2182 p.E728Q 0.003 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 130 0 0.00 134 16 10.67 - - - PCNX 0 genome.wustl.edu 37 14 71444749 71444749 + Frame_Shift_Del DEL A A - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 14 71444749 71444749 A - DEL PCNX ENST00000304743 human ensembl 69_37n +1 known frame_shift_del c.1695 p.K567fs 0.950 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 103 0 0.00 71 37 33.94 - - - PDE6B 0 genome.wustl.edu 37 4 660344 660344 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 4 660344 660344 G A SNP PDE6B ENST00000496514 human ensembl 69_37n +1 known missense c.2293 p.A765T 0.412 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 49 0 0.00 94 14 12.96 - - - PEX2 0 genome.wustl.edu 37 8 77896091 77896091 + Silent SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 8 77896091 77896091 A G SNP PEX2 ENST00000357039 human ensembl 69_37n -1 known silent c.324 p.V108 0.905 pfam_Pex_N pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX2 HGNC ENSG00000164751 137 0 0.00 100 64 39.02 - - - PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 69_37n +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 53 0 0.00 24 14 35.90 - - - PIGW 0 genome.wustl.edu 37 17 34893944 34893944 + Missense_Mutation SNP C C G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 17 34893944 34893944 C G SNP PIGW ENST00000328396 human ensembl 69_37n +1 known missense c.994 p.H332D 0.000 pfam_GWT1,pirsf_GWT1 pfam_GWT1,pirsf_GWT1 - no_errors PIGW HGNC ENSG00000184886 177 0 0.00 171 84 32.94 - - - PIK3C2A 0 genome.wustl.edu 37 11 17122898 17122900 + In_Frame_Del DEL AAC AAC - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 17122898 17122900 AAC - DEL PIK3C2A ENST00000265970 human ensembl 69_37n -1 known in_frame_del c.3935_3933 p.L1311in_frame_del 1.000:1.000:1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 302 0 0.00 245 132 34.83 - - - PIK3CA 0 genome.wustl.edu 37 3 178916938 178916940 + In_Frame_Del DEL GAA GAA - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 178916938 178916940 GAA - DEL PIK3CA ENST00000263967 human ensembl 69_37n +1 known in_frame_del c.325_327 p.E110in_frame_del 1.000:1.000:1.000 NULL 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 0.00 100 45 31.03 - - - PIWIL1 0 genome.wustl.edu 37 12 130833950 130833950 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 130833950 130833950 A G SNP PIWIL1 ENST00000245255 human ensembl 69_37n +1 known missense c.901 p.K301E 0.999 pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 238 0 0.00 208 107 33.97 - - - PJA1 0 genome.wustl.edu 37 X 68382828 68382828 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 68382828 68382828 G A SNP PJA1 ENST00000361478 human ensembl 69_37n -1 known missense c.254 p.S85L 0.009 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 240 0 0.00 225 117 33.91 - - - PKP1 0 genome.wustl.edu 37 1 201282534 201282534 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 201282534 201282534 C T SNP PKP1 ENST00000263946 human ensembl 69_37n +1 known missense c.547 p.R183C 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 34 0 0.00 48 7 12.73 - - - PKP1 0 genome.wustl.edu 37 1 201282535 201282535 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 201282535 201282535 G A SNP PKP1 ENST00000263946 human ensembl 69_37n +1 known missense c.548 p.R183H 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 34 0 0.00 38 19 33.33 - - - PLD1 0 genome.wustl.edu 37 3 171431831 171431831 + Silent SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 171431831 171431831 A G SNP PLD1 ENST00000351298 human ensembl 69_37n -1 known silent c.763 p.L255 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 189 0 0.00 164 85 34.14 - - - PLXNB2 0 genome.wustl.edu 37 22 50727190 50727190 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 22 50727190 50727190 G A SNP PLXNB2 ENST00000359337 human ensembl 69_37n -1 known silent c.1362 p.Y454 0.997 superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 38 0 0.00 30 15 33.33 - - - POC5 0 genome.wustl.edu 37 5 74973684 74973684 + Frame_Shift_Del DEL T T - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 5 74973684 74973684 T - DEL POC5 ENST00000428202 human ensembl 69_37n -1 known frame_shift_del c.1499 p.N500fs 0.001 NULL NULL - no_errors POC5 HGNC ENSG00000152359 451 0 0.00 301 220 41.35 - - - POLA1 0 genome.wustl.edu 37 X 24830822 24830822 + Silent SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 24830822 24830822 T C SNP POLA1 ENST00000379068 human ensembl 69_37n +1 known silent c.3138 p.I1046 0.983 pfam_DNA-dir_DNA_pol_B_multi_dom,tigrfam_DNA-dir_DNA_pol_B_pol2 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 242 1 0.41 221 82 26.97 - - - POLE 0 genome.wustl.edu 37 12 133220438 133220438 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 133220438 133220438 G A SNP POLE ENST00000455752 human ensembl 69_37n -1 known silent c.4308 p.G1436 0.455 NULL 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 150 0 0.00 155 47 23.27 - - - POLR2B 0 genome.wustl.edu 37 4 57896449 57896452 + Frame_Shift_Del DEL TTGT TTGT - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 TTGT TTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 4 57896449 57896452 TTGT - DEL POLR2B ENST00000314595 human ensembl 69_37n +1 known frame_shift_del c.3319_3322 p.F1108fs 0.436:0.999:1.000:1.000 pfam_RNA_pol_Rpb2_7 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 326 0 0.00 240 109 30.88 - - - POTEH 0 genome.wustl.edu 37 22 16287406 16287406 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 22 16287406 16287406 G A SNP POTEH ENST00000343518 human ensembl 69_37n -1 known silent c.480 p.Y160 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 379 1 0.26 438 90 17.01 - - - PPAP2C 0 genome.wustl.edu 37 19 287568 287568 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 19 287568 287568 C T SNP PPAP2C ENST00000327790 human ensembl 69_37n -1 known missense c.451 p.V151I 0.992 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2C HGNC ENSG00000141934 37 0 0.00 44 6 12.00 - - - PPIP5K1 0 genome.wustl.edu 37 15 43831723 43831723 + Silent SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 15 43831723 43831723 A G SNP PPIP5K1 ENST00000420765 human ensembl 69_37n -1 known silent c.3444 p.R1148 0.997 NULL pfam_His_Pase_superF_clade-2,superfamily_MTCP1 - no_errors PPIP5K1 HGNC ENSG00000168781 553 1 0.18 612 107 14.88 - - - PRELP 0 genome.wustl.edu 37 1 203452615 203452615 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 203452615 203452615 G A SNP PRELP ENST00000343110 human ensembl 69_37n +1 known silent c.303 p.P101 0.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors PRELP HGNC ENSG00000188783 196 0 0.00 159 85 34.00 - - - PRKD3 0 genome.wustl.edu 37 2 37507071 37507071 + Silent SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 37507071 37507071 T C SNP PRKD3 ENST00000234179 human ensembl 69_37n -1 known silent c.990 p.E330 0.992 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 146 1 0.67 136 86 38.22 - - - PRRG3 0 genome.wustl.edu 37 X 150869297 150869297 + Frame_Shift_Del DEL G G - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 150869297 150869297 G - DEL PRRG3 ENST00000370353 human ensembl 69_37n +1 known frame_shift_del c.488 p.G165fs 0.000 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 18 0 0.00 24 10 29.41 - - - PRSS8 0 genome.wustl.edu 37 16 31143790 31143790 + Missense_Mutation SNP A A C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 16 31143790 31143790 A C SNP PRSS8 ENST00000317508 human ensembl 69_37n -1 known missense c.665 p.V222G 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS8 HGNC ENSG00000052344 86 0 0.00 66 43 39.45 - - - PRUNE2 0 genome.wustl.edu 37 9 79319782 79319782 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 9 79319782 79319782 G A SNP PRUNE2 ENST00000428286 human ensembl 69_37n -1 known missense c.6331 p.P2111S 0.001 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 168 0 0.00 101 60 37.27 - - - PTENP1 0 genome.wustl.edu 37 9 33675365 33675365 + RNA DEL A A - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 9 33675365 33675365 A - DEL PTENP1 ENST00000532280 human ensembl 69_37n -1 known rna NULL NULL 0.998 - - - no_errors PTENP1 HGNC ENSG00000237984 27 0 0.00 17 6 26.09 - - - PTPRF 0 genome.wustl.edu 37 1 44069494 44069494 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 44069494 44069494 C T SNP PTPRF ENST00000359947 human ensembl 69_37n +1 known missense c.2671 p.R891W 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 24 0 0.00 19 16 44.44 - - - PUS7 0 genome.wustl.edu 37 7 105148864 105148864 + Frame_Shift_Del DEL T T - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 105148864 105148864 T - DEL PUS7 ENST00000356362 human ensembl 69_37n -1 known frame_shift_del c.96 p.K32fs 0.986 pirsf_PsdUridine_synth_TruD_euk pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC ENSG00000091127 437 0 0.00 339 180 34.16 - - - QRICH2 0 genome.wustl.edu 37 17 74278024 74278024 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 17 74278024 74278024 C T SNP QRICH2 ENST00000262765 human ensembl 69_37n -1 known missense c.3686 p.R1229Q 0.890 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 40 0 0.00 35 7 16.67 - - - R3HDM4 0 genome.wustl.edu 37 19 900926 900926 + Silent SNP G G T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 19 900926 900926 G T SNP R3HDM4 ENST00000361574 human ensembl 69_37n -1 known silent c.378 p.S126 0.267 NULL pfscan_R3H_ss-bd - no_errors R3HDM4 HGNC ENSG00000198858 22 0 0.00 16 8 33.33 - - - RAB11A 0 genome.wustl.edu 37 15 66180167 66180167 + Nonsense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 15 66180167 66180167 C T SNP RAB11A ENST00000261890 human ensembl 69_37n +1 known nonsense c.640 p.Q214* 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB11A HGNC ENSG00000103769 166 0 0.00 142 36 20.22 - - - RAD9A 0 genome.wustl.edu 37 11 67163284 67163286 + In_Frame_Del DEL GAG GAG - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 67163284 67163286 GAG - DEL RAD9A ENST00000307980 human ensembl 69_37n +1 known in_frame_del c.547_549 p.E185in_frame_del 1.000:1.000:0.998 pfam_Rad9,pirsf_Cell_cycle_RAD9 pfam_Rad9,pirsf_Cell_cycle_RAD9 - no_errors RAD9A HGNC ENSG00000172613 35 0 0.00 31 6 16.22 - - - RFX6 0 genome.wustl.edu 37 6 117248313 117248313 + Missense_Mutation SNP C C A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 6 117248313 117248313 C A SNP RFX6 ENST00000332958 human ensembl 69_37n +1 known missense c.2009 p.P670Q 0.126 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 193 0 0.00 74 25 25.25 - - - RHOT1 0 genome.wustl.edu 37 17 30521111 30521111 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 17 30521111 30521111 A G SNP RHOT1 ENST00000358365 human ensembl 69_37n +1 known missense c.854 p.E285G 1.000 pfam_EF_hand_assoc_2,pirsf_Small_GTPase_Miro pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOT1 HGNC ENSG00000126858 697 1 0.14 606 320 34.56 - - - RIN2 0 genome.wustl.edu 37 20 19915793 19915793 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 20 19915793 19915793 G A SNP RIN2 ENST00000255006 human ensembl 69_37n +1 known silent c.255 p.V85 1.000 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 185 0 0.00 147 78 34.67 - - - RNF113B 0 genome.wustl.edu 37 13 98828674 98828674 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 13 98828674 98828674 G A SNP RNF113B ENST00000267291 human ensembl 69_37n -1 known missense c.817 p.H273Y 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 173 0 0.00 142 81 36.32 - - - RP1L1 0 genome.wustl.edu 37 8 10470757 10470757 + Frame_Shift_Del DEL G G - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 8 10470757 10470757 G - DEL RP1L1 ENST00000382483 human ensembl 69_37n -1 known frame_shift_del c.851 p.P284fs 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 20 0 0.00 23 10 30.30 - - - RPGR 0 genome.wustl.edu 37 X 38145271 38145272 + In_Frame_Ins INS - - CCC TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 38145271 38145272 - CCC INS RPGR ENST00000378505 human ensembl 69_37n -1 known in_frame_ins c.2981_2980 p.994in_frame_insG 0.060:0.135 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 54 0 0.00 29 4 12.12 - - - RPLP0P2 0 genome.wustl.edu 37 11 61404625 61404625 + RNA SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 61404625 61404625 G A SNP RPLP0P2 ENST00000496593 human ensembl 69_37n +1 known rna NULL NULL 0.997 - - - no_errors RPLP0P2 HGNC ENSG00000243742 81 0 0.00 69 39 36.11 - - - RPS5 0 genome.wustl.edu 37 19 58904783 58904783 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 19 58904783 58904783 A G SNP RPS5 ENST00000196551 human ensembl 69_37n +1 known missense c.376 p.T126A 0.992 pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc - no_errors RPS5 HGNC ENSG00000083845 41 0 0.00 37 6 13.64 - - - RTTN 0 genome.wustl.edu 37 18 67698148 67698148 + Missense_Mutation SNP C C A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 18 67698148 67698148 C A SNP RTTN ENST00000255674 human ensembl 69_37n -1 known missense c.5611 p.A1871S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 272 0 0.00 207 99 32.35 - - - RWDD2A 0 genome.wustl.edu 37 6 83904358 83904358 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 6 83904358 83904358 T C SNP RWDD2A ENST00000369724 human ensembl 69_37n +1 known missense c.188 p.I63T 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain - no_errors RWDD2A HGNC ENSG00000013392 119 0 0.00 176 23 11.56 - - - SALL4 0 genome.wustl.edu 37 20 50400983 50400983 + Frame_Shift_Del DEL C C - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 20 50400983 50400983 C - DEL SALL4 ENST00000217086 human ensembl 69_37n -1 known frame_shift_del c.2983 p.V995fs 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 112 0 0.00 90 51 35.92 - - - SAMD15 0 genome.wustl.edu 37 14 77845125 77845125 + Missense_Mutation SNP T T A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 14 77845125 77845125 T A SNP SAMD15 ENST00000216471 human ensembl 69_37n +1 known missense c.1364 p.F455Y 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 150 0 0.00 152 36 19.15 - - - SBF1 0 genome.wustl.edu 37 22 50906253 50906253 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 22 50906253 50906253 C T SNP SBF1 ENST00000380817 human ensembl 69_37n -1 known missense c.241 p.A81T 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 35 0 0.00 21 14 37.84 - - - SEC24B 0 genome.wustl.edu 37 4 110442315 110442315 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 4 110442315 110442315 A G SNP SEC24B ENST00000265175 human ensembl 69_37n +1 known missense c.2288 p.Y763C 0.995 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 419 0 0.00 400 200 33.33 - - - SEC24D 0 genome.wustl.edu 37 4 119745855 119745855 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 4 119745855 119745855 C T SNP SEC24D ENST00000379735 human ensembl 69_37n -1 known missense c.168 p.M56I 0.281 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC ENSG00000150961 48 0 0.00 32 26 44.83 - - - SETD1B 0 genome.wustl.edu 37 12 122242658 122242658 + Frame_Shift_Del DEL C C - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 122242658 122242658 C - DEL SETD1B ENST00000267197 human ensembl 69_37n +1 known frame_shift_del c.15 p.H8fs 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 59 0 0.00 47 13 21.31 - - - SETDB1 0 genome.wustl.edu 37 1 150917623 150917624 + Frame_Shift_Ins INS - - G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 150917623 150917624 - G INS SETDB1 ENST00000368962 human ensembl 69_37n +1 known frame_shift_ins c.1179_1180 p.T396fs 0.000:0.000 NULL smart_Tudor - no_errors SETDB1 HGNC ENSG00000143379 125 0 0.00 106 35 24.82 - - - SGOL2 0 genome.wustl.edu 37 2 201438018 201438019 + Frame_Shift_Ins INS - - A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 201438018 201438019 - A INS SGOL2 ENST00000357799 human ensembl 69_37n +1 known frame_shift_ins c.2949_2950 p.R985fs 0.140:0.133 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 51 0 0.00 18 16 47.06 - - - SH2B1 0 genome.wustl.edu 37 16 28884850 28884850 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 16 28884850 28884850 G A SNP SH2B1 ENST00000569651 human ensembl 69_37n +1 putative missense c.457 p.V153I 0.991 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SH2B1 HGNC ENSG00000178188 109 0 0.00 93 35 27.34 - - - SH3BGRL 0 genome.wustl.edu 37 X 80457737 80457737 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 80457737 80457737 C T SNP SH3BGRL ENST00000373212 human ensembl 69_37n +1 known missense c.38 p.S13F 0.988 pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold - no_errors SH3BGRL HGNC ENSG00000131171 249 0 0.00 222 96 30.19 - - - SHD 0 genome.wustl.edu 37 19 4280122 4280122 + Missense_Mutation SNP C C A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 19 4280122 4280122 C A SNP SHD ENST00000543264 human ensembl 69_37n +1 known missense c.62 p.P21H 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHD HGNC ENSG00000105251 30 0 0.00 16 11 40.74 - - - SHMT2 0 genome.wustl.edu 37 12 57626239 57626239 + Frame_Shift_Del DEL A A - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 57626239 57626239 A - DEL SHMT2 ENST00000328923 human ensembl 69_37n +1 known frame_shift_del c.598 p.T201fs 0.008 pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase - no_errors SHMT2 HGNC ENSG00000182199 91 0 0.00 61 33 35.11 - - - SLC18A3 0 genome.wustl.edu 37 10 50819070 50819070 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 50819070 50819070 C T SNP SLC18A3 ENST00000374115 human ensembl 69_37n +1 known missense c.284 p.A95V 0.107 pfam_MFS,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 SLC18A3 HGNC ENSG00000187714 22 0 0.00 14 5 26.32 - - - SLC20A2 0 genome.wustl.edu 37 8 42295045 42295045 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 8 42295045 42295045 C T SNP SLC20A2 ENST00000342228 human ensembl 69_37n -1 known missense c.985 p.G329S 1.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A2 HGNC ENSG00000168575 70 0 0.00 60 40 40.00 - - - SLC24A1 0 genome.wustl.edu 37 15 65918176 65918177 + In_Frame_Ins INS - - CTG TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 15 65918176 65918177 - CTG INS SLC24A1 ENST00000261892 human ensembl 69_37n +1 known in_frame_ins c.1758_1759 p.590in_frame_insL 1.000:1.000 pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K-dep_Na/Ca-exchanger-like pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K-dep_Na/Ca-exchanger-like - no_errors SLC24A1 HGNC ENSG00000074621 304 0 0.00 331 70 17.46 - - - SLC25A44 0 genome.wustl.edu 37 1 156180034 156180034 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 156180034 156180034 G A SNP SLC25A44 ENST00000359511 human ensembl 69_37n +1 known missense c.757 p.E253K 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A44 HGNC ENSG00000160785 289 0 0.00 219 157 41.76 - - - SLC27A2 0 genome.wustl.edu 37 15 50526110 50526110 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 15 50526110 50526110 A G SNP SLC27A2 ENST00000267842 human ensembl 69_37n +1 known missense c.1601 p.N534S 0.067 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC ENSG00000140284 280 0 0.00 306 38 11.05 - - - SLC27A4 0 genome.wustl.edu 37 9 131115028 131115028 + Splice_Site SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 9 131115028 131115028 T C SNP SLC27A4 ENST00000300456 human ensembl 69_37n +1 known splice_site c.987+2 e6+2 1.000 - - - no_errors SLC27A4 HGNC ENSG00000167114 73 0 0.00 66 16 19.51 - - - SLC2A9 0 genome.wustl.edu 37 4 9828107 9828107 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 4 9828107 9828107 C T SNP SLC2A9 ENST00000264784 human ensembl 69_37n -1 known missense c.1537 p.A513T 0.979 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 354 1 0.28 209 113 35.09 - - - SLC30A6 0 genome.wustl.edu 37 2 32396392 32396392 + Frame_Shift_Del DEL T T - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 32396392 32396392 T - DEL SLC30A6 ENST00000282587 human ensembl 69_37n +1 known frame_shift_del c.40 p.F15fs 1.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A6 HGNC ENSG00000152683 395 1 0.25 543 66 10.80 - - - SLC34A2 0 genome.wustl.edu 37 4 25675985 25675985 + Missense_Mutation SNP C C A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 4 25675985 25675985 C A SNP SLC34A2 ENST00000382051 human ensembl 69_37n +1 known missense c.1284 p.F428L 1.000 pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 189 0 0.00 202 23 10.18 - - - SLC9A1 0 genome.wustl.edu 37 1 27440699 27440699 + Frame_Shift_Del DEL C C - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 27440699 27440699 C - DEL SLC9A1 ENST00000263980 human ensembl 69_37n -1 known frame_shift_del c.431 p.G144fs 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 35 0 0.00 29 11 26.83 - - - SLC9A7P1 0 genome.wustl.edu 37 12 98850411 98850412 + RNA INS - - G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 98850411 98850412 - G INS SLC9A7P1 ENST00000554295 human ensembl 69_37n -1 putative rna NULL NULL 0.990:0.994 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 53 0 0.00 73 11 13.10 - - - SLCO1B1 0 genome.wustl.edu 37 12 21377736 21377736 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 21377736 21377736 C T SNP SLCO1B1 ENST00000256958 human ensembl 69_37n +1 known missense c.1828 p.R610C 0.010 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 425 0 0.00 239 190 44.29 - - - SLTM 0 genome.wustl.edu 37 15 59182525 59182526 + Frame_Shift_Del DEL TC TC - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 15 59182525 59182526 TC - DEL SLTM ENST00000380516 human ensembl 69_37n -1 known frame_shift_del c.2034_2033 p.R678fs 0.999:1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 247 0 0.00 228 27 10.51 - - - SMC4 0 genome.wustl.edu 37 3 160131390 160131390 + Silent SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 160131390 160131390 A G SNP SMC4 ENST00000344722 human ensembl 69_37n +1 known silent c.1110 p.K370 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 195 0 0.00 159 71 30.87 - - - SORBS1 0 genome.wustl.edu 37 10 97170460 97170460 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 97170460 97170460 G A SNP SORBS1 ENST00000361941 human ensembl 69_37n -1 known silent c.885 p.S295 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 211 0 0.00 190 35 15.56 - - - SOX15 0 genome.wustl.edu 37 17 7491760 7491760 + Frame_Shift_Del DEL G G - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 17 7491760 7491760 G - DEL SOX15 ENST00000250055 human ensembl 69_37n -1 known frame_shift_del c.638 p.P213fs 0.784 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX15 HGNC ENSG00000129194 193 0 0.00 81 117 57.92 - - - SPDYC 0 genome.wustl.edu 37 11 64938932 64938932 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 64938932 64938932 G A SNP SPDYC ENST00000377185 human ensembl 69_37n +1 known missense c.161 p.R54H 0.000 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYC HGNC ENSG00000204710 63 0 0.00 38 24 38.71 - - - SPEN 0 genome.wustl.edu 37 1 16259042 16259043 + Frame_Shift_Ins INS - - G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 16259042 16259043 - G INS SPEN ENST00000375759 human ensembl 69_37n +1 known frame_shift_ins c.6307_6308 p.A2105fs 0.000:0.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 107 0 0.00 90 17 15.89 - - - SQSTM1 0 genome.wustl.edu 37 5 179260660 179260660 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 5 179260660 179260660 C T SNP SQSTM1 ENST00000389805 human ensembl 69_37n +1 known missense c.1043 p.P348L 1.000 NULL pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors SQSTM1 HGNC ENSG00000161011 104 1 0.95 79 58 42.34 - - - SRGAP2 0 genome.wustl.edu 37 1 206611342 206611342 + Nonsense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 206611342 206611342 C T SNP SRGAP2 ENST00000295713 human ensembl 69_37n +1 known nonsense c.1402 p.R468* 0.995 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SRGAP2 HGNC ENSG00000163486 162 0 0.00 126 57 31.15 - - - STUB1 0 genome.wustl.edu 37 16 731505 731507 + In_Frame_Del DEL GAA GAA - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 16 731505 731507 GAA - DEL STUB1 ENST00000219548 human ensembl 69_37n +1 known in_frame_del c.426_428 p.K145in_frame_del 1.000:1.000:1.000 NULL pfam_Ubox_domain,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ubox_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STUB1 HGNC ENSG00000103266 14 0 0.00 11 6 35.29 - - - SUPT6H 0 genome.wustl.edu 37 17 27027201 27027202 + In_Frame_Ins INS - - AGC TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 17 27027201 27027202 - AGC INS SUPT6H ENST00000314616 human ensembl 69_37n +1 known in_frame_ins c.4572_4573 p.1528in_frame_insS 1.000:1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 96 0 0.00 111 26 18.98 - - - TACC2 0 genome.wustl.edu 37 10 123844494 123844494 + Missense_Mutation SNP G G C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 123844494 123844494 G C SNP TACC2 ENST00000334433 human ensembl 69_37n +1 known missense c.2479 p.E827Q 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 135 0 0.00 149 17 10.24 - - - TAS2R10 0 genome.wustl.edu 37 12 10978282 10978282 + Frame_Shift_Del DEL A A - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 10978282 10978282 A - DEL TAS2R10 ENST00000240619 human ensembl 69_37n -1 known frame_shift_del c.587 p.L196fs 0.009 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R10 HGNC ENSG00000121318 63 0 0.00 32 11 24.44 - - - TBC1D10C 0 genome.wustl.edu 37 11 67171808 67171808 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 67171808 67171808 C T SNP TBC1D10C ENST00000312390 human ensembl 69_37n +1 known silent c.135 p.G45 0.999 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10C HGNC ENSG00000175463 19 0 0.00 8 6 42.86 - - - TBC1D21 0 genome.wustl.edu 37 15 74177124 74177124 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 15 74177124 74177124 C T SNP TBC1D21 ENST00000300504 human ensembl 69_37n +1 known missense c.370 p.R124C 0.003 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D21 HGNC ENSG00000167139 60 0 0.00 33 26 44.07 - - - TBCD 0 genome.wustl.edu 37 17 80895232 80895232 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 17 80895232 80895232 G A SNP TBCD ENST00000355528 human ensembl 69_37n +1 known missense c.3277 p.A1093T 0.003 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 103 0 0.00 103 36 25.71 - - - TBX5 0 genome.wustl.edu 37 12 114804192 114804193 + Frame_Shift_Ins INS - - A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 12 114804192 114804193 - A INS TBX5 ENST00000310346 human ensembl 69_37n -1 known frame_shift_ins c.760_759 p.E253fs 1.000:1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 53 0 0.00 34 4 10.53 - - - TFE3 0 genome.wustl.edu 37 X 48887952 48887952 + Frame_Shift_Del DEL C C - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 48887952 48887952 C - DEL TFE3 ENST00000315869 human ensembl 69_37n -1 known frame_shift_del c.1445 p.G482fs 0.037 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TFE3 HGNC ENSG00000068323 56 0 0.00 45 9 16.36 - - - THBS1 0 genome.wustl.edu 37 15 39885373 39885373 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 15 39885373 39885373 C T SNP THBS1 ENST00000260356 human ensembl 69_37n +1 known silent c.2940 p.R980 0.977 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 39 0 0.00 42 25 37.31 - - - TIRAP 0 genome.wustl.edu 37 11 126162826 126162826 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 11 126162826 126162826 C T SNP TIRAP ENST00000392678 human ensembl 69_37n +1 known silent c.522 p.C174 1.000 superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Tirap pfam_TIR_dom,superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Tirap,pfscan_TIR_dom - no_errors TIRAP HGNC ENSG00000150455 61 0 0.00 52 9 14.52 - - - TLR9 0 genome.wustl.edu 37 3 52257017 52257017 + Frame_Shift_Del DEL C C - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 52257017 52257017 C - DEL TLR9 ENST00000360658 human ensembl 69_37n -1 known frame_shift_del c.1315 p.E439fs 0.133 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 12 0 0.00 9 9 50.00 - - - TM2D3 0 genome.wustl.edu 37 15 102182699 102182699 + Missense_Mutation SNP C C A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 15 102182699 102182699 C A SNP TM2D3 ENST00000333202 human ensembl 69_37n -1 known missense c.727 p.G243C 1.000 NULL pfam_TM2 - no_errors TM2D3 HGNC ENSG00000184277 89 0 0.00 67 45 40.18 - - - TMEM74 0 genome.wustl.edu 37 8 109796495 109796495 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 8 109796495 109796495 A G SNP TMEM74 ENST00000297459 human ensembl 69_37n -1 known missense c.833 p.F278S 1.000 NULL NULL - no_errors TMEM74 HGNC ENSG00000164841 201 0 0.00 152 78 33.91 - - - TMPRSS11F 0 genome.wustl.edu 37 4 68925078 68925078 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 4 68925078 68925078 G A SNP TMPRSS11F ENST00000356291 human ensembl 69_37n -1 known missense c.1124 p.A375V 1.000 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_SEA,pfscan_Peptidase_S1_S6 - no_errors TMPRSS11F HGNC ENSG00000198092 560 0 0.00 541 83 13.30 - - - TNKS2 0 genome.wustl.edu 37 10 93601946 93601946 + Frame_Shift_Del DEL A A - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 93601946 93601946 A - DEL TNKS2 ENST00000371627 human ensembl 69_37n +1 known frame_shift_del c.1857 p.N622fs 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 194 0 0.00 124 67 34.72 - - - TNS4 0 genome.wustl.edu 37 17 38643488 38643488 + Frame_Shift_Del DEL G G - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 17 38643488 38643488 G - DEL TNS4 ENST00000254051 human ensembl 69_37n -1 known frame_shift_del c.1088 p.P363fs 1.000 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 483 0 0.00 431 77 15.07 - - - TNXB 0 genome.wustl.edu 37 6 32049423 32049424 + Frame_Shift_Ins INS - - G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 6 32049423 32049424 - G INS TNXB ENST00000375247 human ensembl 69_37n -1 known frame_shift_ins c.3764_3763 p.R1255fs 0.000:0.009 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 14 0 0.00 22 6 21.43 - - - TOP3B 0 genome.wustl.edu 37 22 22326278 22326278 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 22 22326278 22326278 C T SNP TOP3B ENST00000357179 human ensembl 69_37n -1 known missense c.355 p.D119N 1.000 pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,prints_Topo_IA pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 103 0 0.00 36 57 61.29 - - - TPO 0 genome.wustl.edu 37 2 1440158 1440158 + Splice_Site SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 1440158 1440158 T C SNP TPO ENST00000329066 human ensembl 69_37n +1 known splice_site c.482+2 e4+2 0.997 - - - no_errors TPO HGNC ENSG00000115705 194 1 0.51 271 33 10.82 - - - TRAF7 0 genome.wustl.edu 37 16 2220730 2220730 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 16 2220730 2220730 C T SNP TRAF7 ENST00000326181 human ensembl 69_37n +1 known missense c.347 p.P116L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 26 0 0.00 23 14 37.84 - - - TRIM32 0 genome.wustl.edu 37 9 119460577 119460577 + Nonsense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 9 119460577 119460577 C T SNP TRIM32 ENST00000373983 human ensembl 69_37n +1 known nonsense c.556 p.Q186* 1.000 NULL pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM32 HGNC ENSG00000119401 71 0 0.00 55 38 40.86 - - - TRIM50 0 genome.wustl.edu 37 7 72730631 72730632 + Frame_Shift_Ins INS - - T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 72730631 72730632 - T INS TRIM50 ENST00000333149 human ensembl 69_37n -1 known frame_shift_ins c.807_806 p.P270fs 1.000:1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM50 HGNC ENSG00000146755 73 0 0.00 92 14 13.21 - - - TRO 0 genome.wustl.edu 37 X 54956207 54956207 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 54956207 54956207 T C SNP TRO ENST00000173898 human ensembl 69_37n +1 known missense c.3050 p.V1017A 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 74 0 0.00 68 9 11.69 - - - TTN 0 genome.wustl.edu 37 2 179430671 179430671 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 2 179430671 179430671 A G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.72484 p.Y24162H 0.999 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 339 0 0.00 138 68 33.01 - - - TUBB4A 0 genome.wustl.edu 37 19 6495769 6495769 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 19 6495769 6495769 G A SNP TUBB4A ENST00000264071 human ensembl 69_37n -1 known silent c.741 p.N247 1.000 superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 54 0 0.00 26 23 46.00 - - - UBE3C 0 genome.wustl.edu 37 7 157009636 157009636 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 157009636 157009636 T C SNP UBE3C ENST00000348165 human ensembl 69_37n +1 known missense c.1885 p.S629P 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 159 0 0.00 217 32 12.75 - - - UGT2B4 0 genome.wustl.edu 37 4 70350946 70350946 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 4 70350946 70350946 C T SNP UGT2B4 ENST00000305107 human ensembl 69_37n -1 known silent c.1290 p.K430 0.211 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B4 HGNC ENSG00000156096 404 0 0.00 290 163 35.98 - - - USP16 0 genome.wustl.edu 37 21 30411428 30411428 + Frame_Shift_Del DEL A A - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 21 30411428 30411428 A - DEL USP16 ENST00000334352 human ensembl 69_37n +1 known frame_shift_del c.814 p.K273fs 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP16 HGNC ENSG00000156256 188 0 0.00 143 70 32.11 - - - VPS4A 0 genome.wustl.edu 37 16 69358203 69358204 + Frame_Shift_Del DEL AG AG - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 16 69358203 69358204 AG - DEL VPS4A ENST00000254950 human ensembl 69_37n +1 known frame_shift_del c.1305_1306 p.S437fs 1.000:1.000 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 109 0 0.00 91 41 30.60 - - - VPS52 0 genome.wustl.edu 37 6 33235071 33235071 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 6 33235071 33235071 C T SNP VPS52 ENST00000445902 human ensembl 69_37n -1 known missense c.1019 p.S340N 1.000 pfam_Vps52 pfam_Vps52,pfam_Exocyst_Exoc1 - no_errors VPS52 HGNC ENSG00000223501 134 0 0.00 154 26 14.44 - - - VWA5B2 0 genome.wustl.edu 37 3 183954187 183954187 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 183954187 183954187 C T SNP VWA5B2 ENST00000426955 human ensembl 69_37n +1 known silent c.1269 p.P423 0.008 NULL NULL - no_errors VWA5B2 HGNC ENSG00000145198 34 0 0.00 28 22 44.00 - - - WDR6 0 genome.wustl.edu 37 3 49049490 49049490 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 3 49049490 49049490 A G SNP WDR6 ENST00000395474 human ensembl 69_37n +1 known missense c.613 p.I205V 0.765 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 37 0 0.00 15 17 53.12 - - - WDR72 0 genome.wustl.edu 37 15 54025194 54025194 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 15 54025194 54025194 C T SNP WDR72 ENST00000360509 human ensembl 69_37n -1 known silent c.153 p.K51 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 156 0 0.00 90 52 36.62 - - - WISP1 0 genome.wustl.edu 37 8 134237699 134237699 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 8 134237699 134237699 G A SNP WISP1 ENST00000250160 human ensembl 69_37n +1 known missense c.677 p.C226Y 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 45 0 0.00 26 19 41.30 - - - WNK2 0 genome.wustl.edu 37 9 96060333 96060333 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 9 96060333 96060333 C T SNP WNK2 ENST00000453718 human ensembl 69_37n +1 putative missense c.1472 p.S491L 1.000 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region WNK2 HGNC ENSG00000165238 9 0 0.00 9 11 55.00 - - - XPO7 0 genome.wustl.edu 37 8 21844747 21844747 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 8 21844747 21844747 G A SNP XPO7 ENST00000434536 human ensembl 69_37n +1 known missense c.1700 p.R567H 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 147 0 0.00 192 26 11.93 - - - ZC4H2 0 genome.wustl.edu 37 X 64137672 64137672 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 64137672 64137672 C T SNP ZC4H2 ENST00000447788 human ensembl 69_37n -1 known missense c.503 p.R168K 0.508 NULL pfam_Znf-C4H2 - no_errors ZC4H2 HGNC ENSG00000126970 293 0 0.00 174 100 36.50 - - - ZCCHC6 0 genome.wustl.edu 37 9 88938113 88938113 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 9 88938113 88938113 T C SNP ZCCHC6 ENST00000375963 human ensembl 69_37n -1 known missense c.2552 p.D851G 0.871 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 172 0 0.00 105 42 28.57 - - - ZDHHC16 0 genome.wustl.edu 37 10 99211936 99211936 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 10 99211936 99211936 A G SNP ZDHHC16 ENST00000420089 human ensembl 69_37n +1 known missense c.260 p.Q87R 0.178 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZDHHC16 HGNC ENSG00000171307 170 0 0.00 154 61 28.24 - - - ZMYM3 0 genome.wustl.edu 37 X 70472854 70472854 + Frame_Shift_Del DEL C C - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 70472854 70472854 C - DEL ZMYM3 ENST00000373988 human ensembl 69_37n -1 known frame_shift_del c.252 p.L85fs 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 30 0 0.00 30 15 31.91 - - - ZNF282 0 genome.wustl.edu 37 7 148921569 148921569 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 148921569 148921569 A G SNP ZNF282 ENST00000262085 human ensembl 69_37n +1 known missense c.1846 p.N616D 0.957 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF282 HGNC ENSG00000170265 29 0 0.00 33 22 40.00 - - - ZNF362 0 genome.wustl.edu 37 1 33745989 33745989 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 33745989 33745989 C T SNP ZNF362 ENST00000373428 human ensembl 69_37n +1 known missense c.614 p.P205L 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF362 HGNC ENSG00000160094 18 0 0.00 19 13 40.62 - - - ZNF645 0 genome.wustl.edu 37 X 22292144 22292144 + Nonsense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 X 22292144 22292144 C T SNP ZNF645 ENST00000323684 human ensembl 69_37n +1 known nonsense c.1036 p.Q346* 0.910 NULL pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ENSG00000175809 230 0 0.00 244 45 15.46 - - - ZNF687 0 genome.wustl.edu 37 1 151261079 151261079 + Frame_Shift_Del DEL C C - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 1 151261079 151261079 C - DEL ZNF687 ENST00000324048 human ensembl 69_37n +1 known frame_shift_del c.2191 p.H733fs 0.430 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 65 0 0.00 71 10 12.20 - - - ZNF785 0 genome.wustl.edu 37 16 30594700 30594700 + Silent SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 16 30594700 30594700 C T SNP ZNF785 ENST00000395216 human ensembl 69_37n -1 known silent c.399 p.A133 0.000 NULL 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 ZNF785 HGNC ENSG00000197162 52 0 0.00 37 30 44.78 - - - ZNF786 0 genome.wustl.edu 37 7 148769157 148769157 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 95f2ee35-a485-4995-8205-01623d97da2d eb1421a0-3424-4a55-be66-9bea2d867c12 7 148769157 148769157 A G SNP ZNF786 ENST00000491431 human ensembl 69_37n -1 known missense c.707 p.V236A 0.000 NULL 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 ZNF786 HGNC ENSG00000197362 31 0 0.00 24 15 35.71 - - -