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 ABCA12 0 genome.wustl.edu 37 2 215839540 215839540 + Silent SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 2 215839540 215839540 G A SNP ABCA12 ENST00000272895 human ensembl 69_37n -1 known silent c.5430 p.F1810 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 143 0 0.00 125 84 40.19 - - - ABCA12 0 genome.wustl.edu 37 2 215839540 215839540 + Silent SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 2 215839540 215839540 G A SNP ABCA12 ENST00000272895 human ensembl 69_37n -1 known silent c.5430 p.F1810 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 42 0 0.00 18 9 33.33 - - - ABCE1 0 genome.wustl.edu 37 4 146031530 146031530 + Missense_Mutation SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 4 146031530 146031530 A G SNP ABCE1 ENST00000296577 human ensembl 69_37n +1 known missense c.547 p.T183A 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 297 2 0.67 177 46 20.44 - - - ACP5 0 genome.wustl.edu 37 19 11687535 11687535 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 19 11687535 11687535 G A SNP ACP5 ENST00000218758 human ensembl 69_37n -1 known missense c.385 p.R129C 1.000 pfam_Metallo_PEstase_dom pfam_Metallo_PEstase_dom - no_errors ACP5 HGNC ENSG00000102575 137 0 0.00 517 808 60.84 - - - ACP5 0 genome.wustl.edu 37 19 11687535 11687535 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 19 11687535 11687535 G A SNP ACP5 ENST00000218758 human ensembl 69_37n -1 known missense c.385 p.R129C 1.000 pfam_Metallo_PEstase_dom pfam_Metallo_PEstase_dom - no_errors ACP5 HGNC ENSG00000102575 79 0 0.00 134 136 50.00 - - - ADAMTS13 0 genome.wustl.edu 37 9 136313811 136313812 + In_Frame_Ins INS - - CGG TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 9 136313811 136313812 - CGG INS ADAMTS13 ENST00000371929 human ensembl 69_37n +1 known in_frame_ins c.2823_2824 p.943in_frame_insR 0.008:0.027 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 50 0 0.00 171 22 11.40 - - - ADAMTS13 0 genome.wustl.edu 37 9 136313811 136313812 + In_Frame_Ins INS - - CGG TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 9 136313811 136313812 - CGG INS ADAMTS13 ENST00000371929 human ensembl 69_37n +1 known in_frame_ins c.2823_2824 p.943in_frame_insR 0.008:0.027 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 23 0 0.00 171 22 11.40 - - - ADC 0 genome.wustl.edu 37 1 33583668 33583669 + Frame_Shift_Ins INS - - G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 1 33583668 33583669 - G INS ADC ENST00000373441 human ensembl 69_37n +1 known frame_shift_ins c.1255_1256 p.T421fs 0.002:0.027 pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn/DAP/Arg_de-COase 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 74 0 0.00 78 10 11.36 - - - ADH1C 0 genome.wustl.edu 37 4 100273815 100273815 + Frame_Shift_Del DEL T T - TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 4 100273815 100273815 T - DEL ADH1C ENST00000515683 human ensembl 69_37n -1 known frame_shift_del c.18 p.V7fs 1.000 NULL NULL - pseudogene ADH1C HGNC ENSG00000248144 293 0 0.00 495 126 20.10 - - - ADH1C 0 genome.wustl.edu 37 4 100273815 100273815 + Frame_Shift_Del DEL T T - TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 4 100273815 100273815 T - DEL ADH1C ENST00000515683 human ensembl 69_37n -1 known frame_shift_del c.18 p.V7fs 1.000 NULL NULL - pseudogene ADH1C HGNC ENSG00000248144 358 0 0.00 495 126 20.10 - - - ADH1C 0 genome.wustl.edu 37 4 100273815 100273815 + Frame_Shift_Del DEL T T - TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 4 100273815 100273815 T - DEL ADH1C ENST00000515683 human ensembl 69_37n -1 known frame_shift_del c.18 p.V7fs 1.000 NULL NULL - pseudogene ADH1C HGNC ENSG00000248144 73 0 0.00 71 13 15.48 - - - ALDH4A1 0 genome.wustl.edu 37 1 19200966 19200966 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 1 19200966 19200966 G C SNP ALDH4A1 ENST00000290597 human ensembl 69_37n -1 known missense c.1570 p.R524G 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Delta1-pyrroline-5-COlate_DH-1 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Delta1-pyrroline-5-COlate_DH-1 - no_errors ALDH4A1 HGNC ENSG00000159423 45 0 0.00 94 51 34.93 - - - ALS2 0 genome.wustl.edu 37 2 202622370 202622370 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 2 202622370 202622370 G C SNP ALS2 ENST00000264276 human ensembl 69_37n -1 known missense c.1226 p.A409G 1.000 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,prints_Reg_chr_condens,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain - no_errors ALS2 HGNC ENSG00000003393 105 0 0.00 104 157 60.15 - - - ANGPT2 0 genome.wustl.edu 37 8 6371330 6371330 + Silent SNP T T C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 8 6371330 6371330 T C SNP ANGPT2 ENST00000325203 human ensembl 69_37n -1 known silent c.1068 p.G356 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT2 HGNC ENSG00000091879 195 1 0.51 112 64 36.36 - - - ANKRD32 0 genome.wustl.edu 37 5 94014548 94014548 + Silent SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 5 94014548 94014548 A G SNP ANKRD32 ENST00000265140 human ensembl 69_37n +1 known silent c.1863 p.G621 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 263 1 0.38 146 177 54.63 - - - ANO4 0 genome.wustl.edu 37 12 101504218 101504218 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 12 101504218 101504218 C G SNP ANO4 ENST00000392977 human ensembl 69_37n +1 known missense c.2186 p.A729G 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 281 1 0.35 232 48 17.14 - - - AP1M1 0 genome.wustl.edu 37 19 16339652 16339652 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 19 16339652 16339652 C T SNP AP1M1 ENST00000586543 human ensembl 69_37n +1 putative missense c.230 p.P77L 0.981 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,prints_Clathrin_mu,pfscan_Clathrin_mu_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AP1M1 HGNC ENSG00000072958 130 1 0.76 30 352 92.15 - - - AP1M1 0 genome.wustl.edu 37 19 16339652 16339652 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 19 16339652 16339652 C T SNP AP1M1 ENST00000586543 human ensembl 69_37n +1 putative missense c.230 p.P77L 0.981 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,prints_Clathrin_mu,pfscan_Clathrin_mu_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AP1M1 HGNC ENSG00000072958 104 0 0.00 30 352 92.15 - - - AP1M1 0 genome.wustl.edu 37 19 16339652 16339652 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 19 16339652 16339652 C T SNP AP1M1 ENST00000586543 human ensembl 69_37n +1 putative missense c.230 p.P77L 0.981 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,prints_Clathrin_mu,pfscan_Clathrin_mu_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AP1M1 HGNC ENSG00000072958 96 0 0.00 15 114 88.37 - - - ARID2 0 genome.wustl.edu 37 12 46245837 46245837 + Missense_Mutation SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 12 46245837 46245837 A G SNP ARID2 ENST00000334344 human ensembl 69_37n +1 known missense c.3931 p.K1311E 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 43 0 0.00 47 34 41.98 - - - ARID2 0 genome.wustl.edu 37 12 46245837 46245837 + Missense_Mutation SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 12 46245837 46245837 A G SNP ARID2 ENST00000334344 human ensembl 69_37n +1 known missense c.3931 p.K1311E 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 42 0 0.00 47 34 41.98 - - - ARID2 0 genome.wustl.edu 37 12 46245837 46245837 + Missense_Mutation SNP A A G TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 12 46245837 46245837 A G SNP ARID2 ENST00000334344 human ensembl 69_37n +1 known missense c.3931 p.K1311E 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 23 0 0.00 9 8 47.06 - - - ARID4B 0 genome.wustl.edu 37 1 235418998 235419001 + Frame_Shift_Del DEL GTTA GTTA - TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 GTTA GTTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 1 235418998 235419001 GTTA - DEL ARID4B ENST00000264183 human ensembl 69_37n -1 known frame_shift_del c.251_248 p.L83fs 1.000:1.000:1.000:1.000 smart_Tudor pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 170 1 0.58 323 48 12.94 - - - ARID4B 0 genome.wustl.edu 37 1 235418998 235419001 + Frame_Shift_Del DEL GTTA GTTA - TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 GTTA GTTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 1 235418998 235419001 GTTA - DEL ARID4B ENST00000264183 human ensembl 69_37n -1 known frame_shift_del c.251_248 p.L83fs 1.000:1.000:1.000:1.000 smart_Tudor pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 185 0 0.00 323 48 12.94 - - - ARID4B 0 genome.wustl.edu 37 1 235418998 235419001 + Frame_Shift_Del DEL GTTA GTTA - TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 GTTA GTTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 1 235418998 235419001 GTTA - DEL ARID4B ENST00000264183 human ensembl 69_37n -1 known frame_shift_del c.251_248 p.L83fs 1.000:1.000:1.000:1.000 smart_Tudor pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 59 0 0.00 90 10 10.00 - - - ASXL2 0 genome.wustl.edu 37 2 25967215 25967215 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 2 25967215 25967215 G A SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known missense c.1991 p.A664V 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 119 0 0.00 245 40 14.04 - - - ASXL2 0 genome.wustl.edu 37 2 25967215 25967215 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 2 25967215 25967215 G A SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known missense c.1991 p.A664V 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 30 0 0.00 42 14 25.00 - - - ATP6AP1 0 genome.wustl.edu 37 X 153660070 153660070 + RNA SNP T T C TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc X 153660070 153660070 T C SNP ATP6AP1 ENST00000484908 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors ATP6AP1 HGNC ENSG00000071553 44 0 0.00 20 3 13.04 - - - ATP7A 0 genome.wustl.edu 37 X 77244950 77244950 + Missense_Mutation SNP A A C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 77244950 77244950 A C SNP ATP7A ENST00000341514 human ensembl 69_37n +1 known missense c.832 p.T278P 0.009 superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 191 1 0.52 98 61 38.36 - - - BCR 0 genome.wustl.edu 37 22 23652503 23652503 + RNA SNP T T C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 22 23652503 23652503 T C SNP BCR ENST00000419722 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors BCR HGNC ENSG00000186716 99 0 0.00 20 7 25.93 - - - BEST1 0 genome.wustl.edu 37 11 61719355 61719355 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 11 61719355 61719355 G C SNP BEST1 ENST00000378043 human ensembl 69_37n +1 known missense c.77 p.G26A 1.000 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST1 HGNC ENSG00000167995 158 1 0.63 120 44 26.83 - - - BIRC3 0 genome.wustl.edu 37 11 102206880 102206880 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 11 102206880 102206880 G A SNP BIRC3 ENST00000263464 human ensembl 69_37n +1 known missense c.1508 p.G503E 1.000 pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 105 0 0.00 68 15 17.86 - - - BIRC3 0 genome.wustl.edu 37 11 102206880 102206880 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 11 102206880 102206880 G A SNP BIRC3 ENST00000263464 human ensembl 69_37n +1 known missense c.1508 p.G503E 1.000 pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 132 0 0.00 68 15 17.86 - - - C2CD3 0 genome.wustl.edu 37 11 73872592 73872592 + Missense_Mutation SNP A A C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 11 73872592 73872592 A C SNP C2CD3 ENST00000334126 human ensembl 69_37n -1 known missense c.335 p.V112G 0.991 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 159 0 0.00 101 63 38.18 - - - CASKIN1 0 genome.wustl.edu 37 16 2231353 2231353 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 16 2231353 2231353 C G SNP CASKIN1 ENST00000562899 human ensembl 69_37n -1 putative missense c.1067 p.G356A 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SAM,pfscan_SAM - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CASKIN1 HGNC ENSG00000167971 26 0 0.00 32 21 39.62 - - - CASKIN1 0 genome.wustl.edu 37 16 2231353 2231353 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 16 2231353 2231353 C G SNP CASKIN1 ENST00000562899 human ensembl 69_37n -1 putative missense c.1067 p.G356A 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SAM,pfscan_SAM - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CASKIN1 HGNC ENSG00000167971 18 0 0.00 32 21 39.62 - - - CCDC141 0 genome.wustl.edu 37 2 179742756 179742756 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 2 179742756 179742756 G C SNP CCDC141 ENST00000420890 human ensembl 69_37n -1 known missense c.1834 p.L612V 1.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC ENSG00000163492 151 0 0.00 116 42 26.42 - - - CCDC155 0 genome.wustl.edu 37 19 49913081 49913081 + Missense_Mutation SNP T T G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 19 49913081 49913081 T G SNP CCDC155 ENST00000447857 human ensembl 69_37n +1 known missense c.1218 p.H406Q 0.000 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 157 0 0.00 33 133 80.12 - - - CCDC155 0 genome.wustl.edu 37 19 49913081 49913081 + Missense_Mutation SNP T T G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 19 49913081 49913081 T G SNP CCDC155 ENST00000447857 human ensembl 69_37n +1 known missense c.1218 p.H406Q 0.000 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 106 0 0.00 33 133 80.12 - - - CCDC155 0 genome.wustl.edu 37 19 49913081 49913081 + Missense_Mutation SNP T T G TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 19 49913081 49913081 T G SNP CCDC155 ENST00000447857 human ensembl 69_37n +1 known missense c.1218 p.H406Q 0.000 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 46 0 0.00 7 32 82.05 - - - CCDC60 0 genome.wustl.edu 37 12 119866494 119866494 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 12 119866494 119866494 G A SNP CCDC60 ENST00000327554 human ensembl 69_37n +1 known missense c.97 p.D33N 0.046 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 194 0 0.00 169 50 22.83 - - - CCNJL 0 genome.wustl.edu 37 5 159679911 159679911 + RNA SNP G G C TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 5 159679911 159679911 G C SNP CCNJL ENST00000377503 human ensembl 69_37n -1 known rna NULL NULL 0.004 - - - no_errors CCNJL HGNC ENSG00000135083 38 0 0.00 9 22 70.97 - - - CD72 0 genome.wustl.edu 37 9 35616245 35616245 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 9 35616245 35616245 G A SNP CD72 ENST00000259633 human ensembl 69_37n -1 known missense c.383 p.T128M 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD72 HGNC ENSG00000137101 23 0 0.00 81 50 38.17 - - - CD72 0 genome.wustl.edu 37 9 35616245 35616245 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 9 35616245 35616245 G A SNP CD72 ENST00000259633 human ensembl 69_37n -1 known missense c.383 p.T128M 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD72 HGNC ENSG00000137101 15 0 0.00 81 50 38.17 - - - CD72 0 genome.wustl.edu 37 9 35616245 35616245 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 9 35616245 35616245 G A SNP CD72 ENST00000259633 human ensembl 69_37n -1 known missense c.383 p.T128M 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD72 HGNC ENSG00000137101 22 0 0.00 37 13 26.00 - - - CDH9 0 genome.wustl.edu 37 5 26881404 26881404 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 5 26881404 26881404 C T SNP CDH9 ENST00000231021 human ensembl 69_37n -1 known silent c.2211 p.T737 0.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 216 0 0.00 311 239 43.45 - - - CDH9 0 genome.wustl.edu 37 5 26881404 26881404 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 5 26881404 26881404 C T SNP CDH9 ENST00000231021 human ensembl 69_37n -1 known silent c.2211 p.T737 0.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 203 0 0.00 311 239 43.45 - - - CDH9 0 genome.wustl.edu 37 5 26881404 26881404 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 5 26881404 26881404 C T SNP CDH9 ENST00000231021 human ensembl 69_37n -1 known silent c.2211 p.T737 0.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 47 0 0.00 25 16 39.02 - - - CDHR4 0 genome.wustl.edu 37 3 49829169 49829169 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 3 49829169 49829169 G A SNP CDHR4 ENST00000412678 human ensembl 69_37n -1 known missense c.2261 p.A754V 0.006 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDHR4 HGNC ENSG00000187492 109 0 0.00 170 63 27.04 - - - CDHR4 0 genome.wustl.edu 37 3 49829169 49829169 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 3 49829169 49829169 G A SNP CDHR4 ENST00000412678 human ensembl 69_37n -1 known missense c.2261 p.A754V 0.006 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDHR4 HGNC ENSG00000187492 94 0 0.00 170 63 27.04 - - - CDHR4 0 genome.wustl.edu 37 3 49829169 49829169 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 3 49829169 49829169 G A SNP CDHR4 ENST00000412678 human ensembl 69_37n -1 known missense c.2261 p.A754V 0.006 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDHR4 HGNC ENSG00000187492 91 0 0.00 52 14 21.21 - - - CDK19 0 genome.wustl.edu 37 6 111136364 111136364 + RNA SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 6 111136364 111136364 G C SNP CDK19 ENST00000460913 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CDK19 HGNC ENSG00000155111 62 0 0.00 92 22 19.30 - - - CDK19 0 genome.wustl.edu 37 6 111136364 111136364 + RNA SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 6 111136364 111136364 G C SNP CDK19 ENST00000460913 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CDK19 HGNC ENSG00000155111 40 0 0.00 92 22 19.30 - - - CDK19 0 genome.wustl.edu 37 6 111136364 111136364 + RNA SNP G G C TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 6 111136364 111136364 G C SNP CDK19 ENST00000460913 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CDK19 HGNC ENSG00000155111 81 0 0.00 48 15 23.81 - - - CENPI 0 genome.wustl.edu 37 X 100395700 100395700 + Missense_Mutation SNP T T G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 100395700 100395700 T G SNP CENPI ENST00000372927 human ensembl 69_37n +1 known missense c.1516 p.L506V 0.901 pfam_Centromere_CenpI pfam_Centromere_CenpI - no_errors CENPI HGNC ENSG00000102384 434 2 0.46 276 68 19.71 - - - CENPI 0 genome.wustl.edu 37 X 100395700 100395700 + Missense_Mutation SNP T T G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 X 100395700 100395700 T G SNP CENPI ENST00000372927 human ensembl 69_37n +1 known missense c.1516 p.L506V 0.901 pfam_Centromere_CenpI pfam_Centromere_CenpI - no_errors CENPI HGNC ENSG00000102384 440 2 0.45 276 68 19.71 - - - CETN2 0 genome.wustl.edu 37 X 151996400 151996400 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 151996400 151996400 C G SNP CETN2 ENST00000370277 human ensembl 69_37n -1 known missense c.504 p.K168N 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CETN2 HGNC ENSG00000147400 317 0 0.00 171 48 21.92 - - - CETN2 0 genome.wustl.edu 37 X 151996400 151996400 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 X 151996400 151996400 C G SNP CETN2 ENST00000370277 human ensembl 69_37n -1 known missense c.504 p.K168N 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CETN2 HGNC ENSG00000147400 263 1 0.38 171 48 21.92 - - - CNKSR2 0 genome.wustl.edu 37 X 21450738 21450739 + Frame_Shift_Ins INS - - T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 21450738 21450739 - T INS CNKSR2 ENST00000379510 human ensembl 69_37n +1 known frame_shift_ins c.237_238 p.L79fs 1.000:1.000 superfamily_SAM/pointed 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 62 0 0.00 29 4 12.12 - - - CNKSR2 0 genome.wustl.edu 37 X 21450738 21450739 + Frame_Shift_Ins INS - - T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 X 21450738 21450739 - T INS CNKSR2 ENST00000379510 human ensembl 69_37n +1 known frame_shift_ins c.237_238 p.L79fs 1.000:1.000 superfamily_SAM/pointed 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 93 0 0.00 29 4 12.12 - - - COX5B 0 genome.wustl.edu 37 2 98262609 98262609 + Silent SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 2 98262609 98262609 C A SNP COX5B ENST00000258424 human ensembl 69_37n +1 known silent c.60 p.R20 0.896 NULL pfam_Cyt_c_oxidase_su5b - no_errors COX5B HGNC ENSG00000135940 8 0 0.00 2 14 87.50 - - - COX5B 0 genome.wustl.edu 37 2 98262609 98262609 + Silent SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 2 98262609 98262609 C A SNP COX5B ENST00000258424 human ensembl 69_37n +1 known silent c.60 p.R20 0.896 NULL pfam_Cyt_c_oxidase_su5b - no_errors COX5B HGNC ENSG00000135940 10 0 0.00 2 14 87.50 - - - COX5B 0 genome.wustl.edu 37 2 98262609 98262609 + Silent SNP C C A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 2 98262609 98262609 C A SNP COX5B ENST00000258424 human ensembl 69_37n +1 known silent c.60 p.R20 0.896 NULL pfam_Cyt_c_oxidase_su5b - no_errors COX5B HGNC ENSG00000135940 111 0 0.00 12 66 84.62 - - - CSMD2 0 genome.wustl.edu 37 1 34181939 34181939 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 1 34181939 34181939 C T SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.3164 p.R1055H 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB 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 CSMD2 HGNC ENSG00000121904 49 0 0.00 81 70 46.05 - - - CSMD2 0 genome.wustl.edu 37 1 34181939 34181939 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 1 34181939 34181939 C T SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.3164 p.R1055H 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB 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 CSMD2 HGNC ENSG00000121904 49 0 0.00 81 70 46.05 - - - CSMD2 0 genome.wustl.edu 37 1 34181939 34181939 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 1 34181939 34181939 C T SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.3164 p.R1055H 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB 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 CSMD2 HGNC ENSG00000121904 46 0 0.00 16 25 60.98 - - - CTNNB1 0 genome.wustl.edu 37 3 41268715 41268715 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 3 41268715 41268715 G A SNP CTNNB1 ENST00000349496 human ensembl 69_37n +1 known missense c.953 p.S318N 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,prints_Beta-catenin,pfscan_Armadillo - no_errors CTNNB1 HGNC ENSG00000168036 135 1 0.74 93 47 33.10 - - - CTNNB1 0 genome.wustl.edu 37 3 41268715 41268715 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 3 41268715 41268715 G A SNP CTNNB1 ENST00000349496 human ensembl 69_37n +1 known missense c.953 p.S318N 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,prints_Beta-catenin,pfscan_Armadillo - no_errors CTNNB1 HGNC ENSG00000168036 154 1 0.65 93 47 33.10 - - - CTNND1 0 genome.wustl.edu 37 11 57577653 57577653 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 11 57577653 57577653 G A SNP CTNND1 ENST00000531007 human ensembl 69_37n +1 putative missense c.37 p.E13K 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CTNND1 HGNC ENSG00000198561 142 0 0.00 56 43 43.43 - - - CTNND1 0 genome.wustl.edu 37 11 57577653 57577653 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 11 57577653 57577653 G A SNP CTNND1 ENST00000531007 human ensembl 69_37n +1 putative missense c.37 p.E13K 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CTNND1 HGNC ENSG00000198561 136 1 0.73 56 43 43.43 - - - CUX1 0 genome.wustl.edu 37 7 101713690 101713690 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 7 101713690 101713690 C T SNP CUX1 ENST00000360264 human ensembl 69_37n +1 known silent c.294 p.D98 0.998 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 63 0 0.00 168 54 24.32 - - - CUX1 0 genome.wustl.edu 37 7 101713690 101713690 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 7 101713690 101713690 C T SNP CUX1 ENST00000360264 human ensembl 69_37n +1 known silent c.294 p.D98 0.998 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 14 0 0.00 8 8 50.00 - - - CYP1B1-AS1 0 genome.wustl.edu 37 2 38408943 38408943 + RNA SNP T T C TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 2 38408943 38408943 T C SNP CYP1B1-AS1 ENST00000413828 human ensembl 69_37n +1 known rna NULL NULL 0.180 - - - no_errors CYP1B1-AS1 HGNC ENSG00000232973 45 0 0.00 42 16 27.59 - - - DAAM2 0 genome.wustl.edu 37 6 39836695 39836695 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 6 39836695 39836695 G A SNP DAAM2 ENST00000274867 human ensembl 69_37n +1 known missense c.859 p.A287T 1.000 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC ENSG00000146122 137 0 0.00 226 68 23.13 - - - DAAM2 0 genome.wustl.edu 37 6 39836695 39836695 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 6 39836695 39836695 G A SNP DAAM2 ENST00000274867 human ensembl 69_37n +1 known missense c.859 p.A287T 1.000 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC ENSG00000146122 106 1 0.93 226 68 23.13 - - - DAAM2 0 genome.wustl.edu 37 6 39836695 39836695 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 6 39836695 39836695 G A SNP DAAM2 ENST00000274867 human ensembl 69_37n +1 known missense c.859 p.A287T 1.000 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC ENSG00000146122 38 0 0.00 25 10 28.57 - - - DHRS7 0 genome.wustl.edu 37 14 60611664 60611664 + Missense_Mutation SNP G G T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 14 60611664 60611664 G T SNP DHRS7 ENST00000557751 human ensembl 69_37n -1 putative missense c.546 p.F182L 0.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DHRS7 HGNC ENSG00000100612 167 0 0.00 103 82 44.32 - - - DIAPH3 0 genome.wustl.edu 37 13 60584795 60584795 + Missense_Mutation SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 13 60584795 60584795 C A SNP DIAPH3 ENST00000400324 human ensembl 69_37n -1 known missense c.780 p.L260F 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH3 HGNC ENSG00000139734 113 0 0.00 45 52 53.61 - - - DLG1 0 genome.wustl.edu 37 3 196888560 196888560 + Missense_Mutation SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 3 196888560 196888560 A G SNP DLG1 ENST00000346964 human ensembl 69_37n -1 known missense c.533 p.V178A 1.000 pfam_MAGUK_PEST_N,pirsf_M-assoc_guanylate_kinase pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG1 HGNC ENSG00000075711 211 2 0.94 109 104 48.83 - - - DOCK5 0 genome.wustl.edu 37 8 25216524 25216524 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 8 25216524 25216524 G C SNP DOCK5 ENST00000276440 human ensembl 69_37n +1 known missense c.2896 p.D966H 1.000 superfamily_ARM-type_fold pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 211 0 0.00 73 40 34.48 - - - DSCAM 0 genome.wustl.edu 37 21 41385226 41385226 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 21 41385226 41385226 C T SNP DSCAM ENST00000400454 human ensembl 69_37n -1 known missense c.5774 p.G1925E 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 19 0 0.00 82 14 14.58 - - - DSCAM 0 genome.wustl.edu 37 21 41385226 41385226 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 21 41385226 41385226 C T SNP DSCAM ENST00000400454 human ensembl 69_37n -1 known missense c.5774 p.G1925E 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 24 0 0.00 82 14 14.58 - - - DST 0 genome.wustl.edu 37 6 56354371 56354371 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 6 56354371 56354371 C T SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.20701 p.E6901K 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin 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 313 0 0.00 365 132 26.56 - - - EDA2R 0 genome.wustl.edu 37 X 65819536 65819536 + Silent SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 65819536 65819536 G A SNP EDA2R ENST00000253392 human ensembl 69_37n -1 known silent c.747 p.F249 0.919 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors EDA2R HGNC ENSG00000131080 86 0 0.00 52 19 26.76 - - - EFHA1 0 genome.wustl.edu 37 13 22077135 22077135 + Missense_Mutation SNP A A T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 13 22077135 22077135 A T SNP EFHA1 ENST00000382374 human ensembl 69_37n -1 known missense c.863 p.L288H 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHA1 HGNC ENSG00000165487 127 0 0.00 66 30 30.61 - - - EIF2S1 0 genome.wustl.edu 37 14 67848325 67848325 + Missense_Mutation SNP G G T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 14 67848325 67848325 G T SNP EIF2S1 ENST00000256383 human ensembl 69_37n +1 known missense c.596 p.C199F 1.000 pfam_TIF_2_asu,superfamily_TIF2_asu_C pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors EIF2S1 HGNC ENSG00000134001 197 0 0.00 116 62 34.83 - - - EIF4G1 0 genome.wustl.edu 37 3 184035124 184035124 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 3 184035124 184035124 C T SNP EIF4G1 ENST00000352767 human ensembl 69_37n +1 known missense c.184 p.R62W 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 64 0 0.00 69 22 24.18 - - - EIF4G1 0 genome.wustl.edu 37 3 184035124 184035124 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 3 184035124 184035124 C T SNP EIF4G1 ENST00000352767 human ensembl 69_37n +1 known missense c.184 p.R62W 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 48 0 0.00 69 22 24.18 - - - EIF4G1 0 genome.wustl.edu 37 3 184035124 184035124 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 3 184035124 184035124 C T SNP EIF4G1 ENST00000352767 human ensembl 69_37n +1 known missense c.184 p.R62W 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 41 0 0.00 38 18 32.14 - - - EP400NL 0 genome.wustl.edu 37 12 132589264 132589264 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 12 132589264 132589264 C T SNP EP400NL ENST00000376625 human ensembl 69_37n +1 known silent c.699 p.A233 0.732 NULL NULL - no_errors EP400NL HGNC ENSG00000185684 8 0 0.00 0 10 100.00 - - - EXOSC1 0 genome.wustl.edu 37 10 99196108 99196108 + RNA SNP T T G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 10 99196108 99196108 T G SNP EXOSC1 ENST00000464440 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors EXOSC1 HGNC ENSG00000171311 41 0 0.00 17 48 72.73 - - - EXOSC2 0 genome.wustl.edu 37 9 133569210 133569210 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 9 133569210 133569210 G C SNP EXOSC2 ENST00000372358 human ensembl 69_37n +1 known missense c.32 p.R11P 0.990 NULL superfamily_NA-bd_OB-fold-like - no_errors EXOSC2 HGNC ENSG00000130713 23 0 0.00 11 25 69.44 - - - FAM103A1 0 genome.wustl.edu 37 15 83658665 83658665 + Missense_Mutation SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 15 83658665 83658665 A G SNP FAM103A1 ENST00000304191 human ensembl 69_37n +1 known missense c.203 p.D68G 0.968 NULL NULL - no_errors FAM103A1 HGNC ENSG00000169612 158 0 0.00 124 49 28.32 - - - FAM47C 0 genome.wustl.edu 37 X 37029580 37029580 + Nonsense_Mutation SNP G G T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc X 37029580 37029580 G T SNP FAM47C ENST00000358047 human ensembl 69_37n +1 known nonsense c.3097 p.E1033* 0.001 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 105 0 0.00 25 3 10.71 - - - FANCD2 0 genome.wustl.edu 37 3 10119819 10119819 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 3 10119819 10119819 C T SNP FANCD2 ENST00000287647 human ensembl 69_37n +1 known missense c.2914 p.L972F 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 234 0 0.00 151 218 59.08 - - - FANCD2 0 genome.wustl.edu 37 3 10119819 10119819 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 3 10119819 10119819 C T SNP FANCD2 ENST00000287647 human ensembl 69_37n +1 known missense c.2914 p.L972F 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 163 0 0.00 151 218 59.08 - - - FANCD2 0 genome.wustl.edu 37 3 10119819 10119819 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 3 10119819 10119819 C T SNP FANCD2 ENST00000287647 human ensembl 69_37n +1 known missense c.2914 p.L972F 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 60 0 0.00 19 24 55.81 - - - FLJ46257 0 genome.wustl.edu 37 22 48023225 48023225 + RNA SNP C C A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 22 48023225 48023225 C A SNP FLJ46257 ENST00000380990 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RP11-191L9.6 Clone_based_vega_gene ENSG00000205634 44 0 0.00 21 10 32.26 - - - GINM1 0 genome.wustl.edu 37 6 149903595 149903595 + Missense_Mutation SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 6 149903595 149903595 A G SNP GINM1 ENST00000367419 human ensembl 69_37n +1 known missense c.737 p.E246G 0.995 NULL NULL - no_errors GINM1 HGNC ENSG00000055211 309 2 0.64 288 57 16.38 - - - GLRA2 0 genome.wustl.edu 37 X 14599357 14599357 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 14599357 14599357 C G SNP GLRA2 ENST00000218075 human ensembl 69_37n +1 known missense c.323 p.A108G 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA2 HGNC ENSG00000101958 122 0 0.00 85 56 39.44 - - - GLRA4 0 genome.wustl.edu 37 X 102962392 102962392 + Missense_Mutation SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 102962392 102962392 C A SNP GLRA4 ENST00000372617 human ensembl 69_37n -1 known missense c.1134 p.L378F 1.000 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA4 HGNC ENSG00000188828 169 0 0.00 98 40 28.99 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685307 23685307 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 15 23685307 23685307 G C SNP GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative missense c.2315 p.A772G 0.022 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 12 0 0.00 6 12 66.67 - - - GPR1 0 genome.wustl.edu 37 2 207041683 207041683 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 2 207041683 207041683 C T SNP GPR1 ENST00000407325 human ensembl 69_37n -1 known missense c.289 p.V97M 0.994 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_ATII_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_ATII_rcpt - no_errors GPR1 HGNC ENSG00000183671 72 0 0.00 77 31 28.70 - - - GPR1 0 genome.wustl.edu 37 2 207041683 207041683 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 2 207041683 207041683 C T SNP GPR1 ENST00000407325 human ensembl 69_37n -1 known missense c.289 p.V97M 0.994 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_ATII_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_ATII_rcpt - no_errors GPR1 HGNC ENSG00000183671 29 0 0.00 15 9 37.50 - - - GPR141 0 genome.wustl.edu 37 7 37780129 37780129 + Missense_Mutation SNP T T C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 7 37780129 37780129 T C SNP GPR141 ENST00000334425 human ensembl 69_37n +1 known missense c.134 p.M45T 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR141 HGNC ENSG00000187037 134 1 0.74 299 77 20.42 - - - GPR141 0 genome.wustl.edu 37 7 37780129 37780129 + Missense_Mutation SNP T T C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 7 37780129 37780129 T C SNP GPR141 ENST00000334425 human ensembl 69_37n +1 known missense c.134 p.M45T 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR141 HGNC ENSG00000187037 105 0 0.00 299 77 20.42 - - - GPR141 0 genome.wustl.edu 37 7 37780129 37780129 + Missense_Mutation SNP T T C TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 7 37780129 37780129 T C SNP GPR141 ENST00000334425 human ensembl 69_37n +1 known missense c.134 p.M45T 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR141 HGNC ENSG00000187037 56 0 0.00 47 15 24.19 - - - GPR98 0 genome.wustl.edu 37 5 90087073 90087073 + Missense_Mutation SNP A A C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 5 90087073 90087073 A C SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known missense c.14427 p.E4809D 0.909 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 114 0 0.00 89 28 23.93 - - - GPR98 0 genome.wustl.edu 37 5 90087073 90087073 + Missense_Mutation SNP A A C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 5 90087073 90087073 A C SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known missense c.14427 p.E4809D 0.909 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 100 0 0.00 89 28 23.93 - - - GUCY2F 0 genome.wustl.edu 37 X 108619137 108619137 + Missense_Mutation SNP G G T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 108619137 108619137 G T SNP GUCY2F ENST00000218006 human ensembl 69_37n -1 known missense c.3318 p.N1106K 0.998 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,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_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 225 2 0.88 153 73 32.30 - - - H3F3B 0 genome.wustl.edu 37 17 73774801 73774803 + In_Frame_Del DEL CCT CCT - TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 17 73774801 73774803 CCT - DEL H3F3B ENST00000254810 human ensembl 69_37n -1 known in_frame_del c.286_284 p.E95in_frame_del 1.000:1.000:1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3B HGNC ENSG00000132475 126 0 0.00 226 38 13.97 - - - H3F3B 0 genome.wustl.edu 37 17 73774801 73774803 + In_Frame_Del DEL CCT CCT - TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 17 73774801 73774803 CCT - DEL H3F3B ENST00000254810 human ensembl 69_37n -1 known in_frame_del c.286_284 p.E95in_frame_del 1.000:1.000:1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3B HGNC ENSG00000132475 126 0 0.00 226 38 13.97 - - - H3F3B 0 genome.wustl.edu 37 17 73774801 73774803 + In_Frame_Del DEL CCT CCT - TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 17 73774801 73774803 CCT - DEL H3F3B ENST00000254810 human ensembl 69_37n -1 known in_frame_del c.286_284 p.E95in_frame_del 1.000:1.000:1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3B HGNC ENSG00000132475 49 0 0.00 31 9 22.50 - - - HEATR5A 0 genome.wustl.edu 37 14 31785054 31785054 + Missense_Mutation SNP T T C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 14 31785054 31785054 T C SNP HEATR5A ENST00000538864 human ensembl 69_37n -1 novel missense c.3023 p.E1008G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - pseudogene:no_stop_codon:bad_bp_length_for_coding_region HEATR5A HGNC ENSG00000129493 115 0 0.00 93 20 17.70 - - - HEATR5A 0 genome.wustl.edu 37 14 31785054 31785054 + Missense_Mutation SNP T T C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 14 31785054 31785054 T C SNP HEATR5A ENST00000538864 human ensembl 69_37n -1 novel missense c.3023 p.E1008G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - pseudogene:no_stop_codon:bad_bp_length_for_coding_region HEATR5A HGNC ENSG00000129493 117 0 0.00 93 20 17.70 - - - HECA 0 genome.wustl.edu 37 6 139487770 139487770 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 6 139487770 139487770 C T SNP HECA ENST00000367658 human ensembl 69_37n +1 known silent c.621 p.S207 0.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 18 0 0.00 46 12 20.34 - - - HECA 0 genome.wustl.edu 37 6 139487770 139487770 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 6 139487770 139487770 C T SNP HECA ENST00000367658 human ensembl 69_37n +1 known silent c.621 p.S207 0.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 17 0 0.00 46 12 20.34 - - - HECA 0 genome.wustl.edu 37 6 139487770 139487770 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 6 139487770 139487770 C T SNP HECA ENST00000367658 human ensembl 69_37n +1 known silent c.621 p.S207 0.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 36 0 0.00 33 15 31.25 - - - HERC2P3 0 genome.wustl.edu 37 15 20588345 20588345 + RNA SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 15 20588345 20588345 C T SNP HERC2P3 ENST00000426501 human ensembl 69_37n -1 known rna NULL NULL 0.012 - - - no_errors HERC2P3 HGNC ENSG00000180229 11 0 0.00 38 8 17.39 - - - HMCN1 0 genome.wustl.edu 37 1 186121949 186121949 + Silent SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 1 186121949 186121949 C A SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known silent c.14964 p.I4988 0.006 pfam_G2_nidogen/fibulin_G2F,superfamily_Green_fluorescent_prot-like,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 354 3 0.84 725 146 16.72 - - - HMCN1 0 genome.wustl.edu 37 1 186121949 186121949 + Silent SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 1 186121949 186121949 C A SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known silent c.14964 p.I4988 0.006 pfam_G2_nidogen/fibulin_G2F,superfamily_Green_fluorescent_prot-like,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 289 0 0.00 725 146 16.72 - - - HPSE2 0 genome.wustl.edu 37 10 100503739 100503739 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 10 100503739 100503739 G A SNP HPSE2 ENST00000370552 human ensembl 69_37n -1 known missense c.685 p.R229C 1.000 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 185 1 0.54 136 89 39.56 - - - HPSE2 0 genome.wustl.edu 37 10 100503739 100503739 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 10 100503739 100503739 G A SNP HPSE2 ENST00000370552 human ensembl 69_37n -1 known missense c.685 p.R229C 1.000 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 178 0 0.00 136 89 39.56 - - - HPSE2 0 genome.wustl.edu 37 10 100503739 100503739 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 10 100503739 100503739 G A SNP HPSE2 ENST00000370552 human ensembl 69_37n -1 known missense c.685 p.R229C 1.000 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 52 0 0.00 19 21 52.50 - - - HTATSF1 0 genome.wustl.edu 37 X 135592323 135592323 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 135592323 135592323 G C SNP HTATSF1 ENST00000218364 human ensembl 69_37n +1 known missense c.1007 p.W336S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 167 0 0.00 41 55 57.29 - - - HTATSF1 0 genome.wustl.edu 37 X 135592323 135592323 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 X 135592323 135592323 G C SNP HTATSF1 ENST00000218364 human ensembl 69_37n +1 known missense c.1007 p.W336S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 168 0 0.00 41 55 57.29 - - - HTATSF1 0 genome.wustl.edu 37 X 135592323 135592323 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc X 135592323 135592323 G C SNP HTATSF1 ENST00000218364 human ensembl 69_37n +1 known missense c.1007 p.W336S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 87 0 0.00 15 18 54.55 - - - IGSF9B 0 genome.wustl.edu 37 11 133791086 133791086 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 11 133791086 133791086 G A SNP IGSF9B ENST00000321016 human ensembl 69_37n -1 known missense c.2534 p.T845M 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC ENSG00000080854 50 0 0.00 64 38 37.25 - - - IGSF9B 0 genome.wustl.edu 37 11 133791086 133791086 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 11 133791086 133791086 G A SNP IGSF9B ENST00000321016 human ensembl 69_37n -1 known missense c.2534 p.T845M 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC ENSG00000080854 27 0 0.00 64 38 37.25 - - - IGSF9B 0 genome.wustl.edu 37 11 133791086 133791086 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 11 133791086 133791086 G A SNP IGSF9B ENST00000321016 human ensembl 69_37n -1 known missense c.2534 p.T845M 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC ENSG00000080854 42 0 0.00 20 8 28.57 - - - IL21R 0 genome.wustl.edu 37 16 27441412 27441412 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 16 27441412 27441412 C T SNP IL21R ENST00000337929 human ensembl 69_37n +1 known missense c.20 p.A7V 0.000 NULL superfamily_Fibronectin_type3 - no_errors IL21R HGNC ENSG00000103522 14 0 0.00 16 33 67.35 - - - IL21R 0 genome.wustl.edu 37 16 27441412 27441412 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 16 27441412 27441412 C T SNP IL21R ENST00000337929 human ensembl 69_37n +1 known missense c.20 p.A7V 0.000 NULL superfamily_Fibronectin_type3 - no_errors IL21R HGNC ENSG00000103522 14 0 0.00 16 33 67.35 - - - IL21R 0 genome.wustl.edu 37 16 27441412 27441412 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 16 27441412 27441412 C T SNP IL21R ENST00000337929 human ensembl 69_37n +1 known missense c.20 p.A7V 0.000 NULL superfamily_Fibronectin_type3 - no_errors IL21R HGNC ENSG00000103522 58 0 0.00 29 32 52.46 - - - IL2RA 0 genome.wustl.edu 37 10 6067839 6067839 + Missense_Mutation SNP T T C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 10 6067839 6067839 T C SNP IL2RA ENST00000379959 human ensembl 69_37n -1 known missense c.214 p.S72G 0.003 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors IL2RA HGNC ENSG00000134460 153 0 0.00 789 119 13.11 - - - IRAK3 0 genome.wustl.edu 37 12 66597504 66597504 + Silent SNP A A C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 12 66597504 66597504 A C SNP IRAK3 ENST00000261233 human ensembl 69_37n +1 known silent c.147 p.S49 0.963 pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom - no_errors IRAK3 HGNC ENSG00000090376 71 0 0.00 57 44 43.56 - - - IRAK3 0 genome.wustl.edu 37 12 66597504 66597504 + Silent SNP A A C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 12 66597504 66597504 A C SNP IRAK3 ENST00000261233 human ensembl 69_37n +1 known silent c.147 p.S49 0.963 pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom - no_errors IRAK3 HGNC ENSG00000090376 95 0 0.00 57 44 43.56 - - - IRAK3 0 genome.wustl.edu 37 12 66597504 66597504 + Silent SNP A A C TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 12 66597504 66597504 A C SNP IRAK3 ENST00000261233 human ensembl 69_37n +1 known silent c.147 p.S49 0.963 pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom - no_errors IRAK3 HGNC ENSG00000090376 22 0 0.00 16 9 36.00 - - - IRX4 0 genome.wustl.edu 37 5 1881946 1881946 + Silent SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 5 1881946 1881946 C G SNP IRX4 ENST00000231357 human ensembl 69_37n -1 known silent c.273 p.S91 0.085 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX4 HGNC ENSG00000113430 24 0 0.00 6 11 64.71 - - - ITGAV 0 genome.wustl.edu 37 2 187505659 187505659 + Silent SNP A A T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 2 187505659 187505659 A T SNP ITGAV ENST00000261023 human ensembl 69_37n +1 known silent c.921 p.G307 0.988 pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 170 0 0.00 86 31 26.50 - - - KCNH7 0 genome.wustl.edu 37 2 163374255 163374255 + Silent SNP G G T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 2 163374255 163374255 G T SNP KCNH7 ENST00000332142 human ensembl 69_37n -1 known silent c.877 p.R293 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 119 0 0.00 106 60 36.14 - - - KCNH7 0 genome.wustl.edu 37 2 163374255 163374255 + Silent SNP G G T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 2 163374255 163374255 G T SNP KCNH7 ENST00000332142 human ensembl 69_37n -1 known silent c.877 p.R293 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 113 0 0.00 106 60 36.14 - - - KCNH7 0 genome.wustl.edu 37 2 163374255 163374255 + Silent SNP G G T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 2 163374255 163374255 G T SNP KCNH7 ENST00000332142 human ensembl 69_37n -1 known silent c.877 p.R293 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 37 0 0.00 13 9 40.91 - - - KIAA0226L 0 genome.wustl.edu 37 13 46942947 46942947 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 13 46942947 46942947 G C SNP KIAA0226L ENST00000389908 human ensembl 69_37n -1 known missense c.539 p.A180G 0.655 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 138 0 0.00 69 79 53.38 - - - KIAA1033 0 genome.wustl.edu 37 12 105521008 105521008 + Silent SNP T T A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 12 105521008 105521008 T A SNP KIAA1033 ENST00000332180 human ensembl 69_37n +1 known silent c.1140 p.L380 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 136 0 0.00 56 42 41.58 - - - KIAA1211 0 genome.wustl.edu 37 4 57181827 57181827 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 4 57181827 57181827 C G SNP KIAA1211 ENST00000504228 human ensembl 69_37n +1 known missense c.2159 p.S720C 1.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 30 0 0.00 52 24 31.58 - - - KIAA1211 0 genome.wustl.edu 37 4 57181827 57181827 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 4 57181827 57181827 C G SNP KIAA1211 ENST00000504228 human ensembl 69_37n +1 known missense c.2159 p.S720C 1.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 36 0 0.00 52 24 31.58 - - - KIAA1211 0 genome.wustl.edu 37 4 57181827 57181827 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 4 57181827 57181827 C G SNP KIAA1211 ENST00000504228 human ensembl 69_37n +1 known missense c.2159 p.S720C 1.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 49 0 0.00 36 13 26.53 - - - KIAA1211 0 genome.wustl.edu 37 4 57181864 57181864 + Silent SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 4 57181864 57181864 C A SNP KIAA1211 ENST00000504228 human ensembl 69_37n +1 known silent c.2196 p.G732 0.041 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 35 0 0.00 60 26 29.89 - - - KIAA1211 0 genome.wustl.edu 37 4 57181864 57181864 + Silent SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 4 57181864 57181864 C A SNP KIAA1211 ENST00000504228 human ensembl 69_37n +1 known silent c.2196 p.G732 0.041 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 43 0 0.00 60 26 29.89 - - - KIAA1211 0 genome.wustl.edu 37 4 57181864 57181864 + Silent SNP C C A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 4 57181864 57181864 C A SNP KIAA1211 ENST00000504228 human ensembl 69_37n +1 known silent c.2196 p.G732 0.041 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 39 0 0.00 28 16 36.36 - - - KRT9 0 genome.wustl.edu 37 17 39728077 39728077 + Silent SNP T T C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 17 39728077 39728077 T C SNP KRT9 ENST00000246662 human ensembl 69_37n -1 known silent c.168 p.G56 0.000 NULL pfam_F,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 145 1 0.68 181 70 27.67 - - - KRTAP4-7 0 genome.wustl.edu 37 17 39240713 39240713 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 17 39240713 39240713 C T SNP KRTAP4-7 ENST00000391417 human ensembl 69_37n +1 known silent c.255 p.C85 0.556 NULL pfam_Keratin-assoc - no_errors KRTAP4-7 HGNC ENSG00000240871 44 0 0.00 116 15 11.45 - - - LRRC42 0 genome.wustl.edu 37 1 54417888 54417888 + Missense_Mutation SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 1 54417888 54417888 C A SNP LRRC42 ENST00000319223 human ensembl 69_37n +1 known missense c.216 p.F72L 1.000 NULL NULL - no_errors LRRC42 HGNC ENSG00000116212 86 0 0.00 126 55 30.39 - - - LRRC42 0 genome.wustl.edu 37 1 54417888 54417888 + Missense_Mutation SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 1 54417888 54417888 C A SNP LRRC42 ENST00000319223 human ensembl 69_37n +1 known missense c.216 p.F72L 1.000 NULL NULL - no_errors LRRC42 HGNC ENSG00000116212 59 0 0.00 126 55 30.39 - - - LRRC42 0 genome.wustl.edu 37 1 54417888 54417888 + Missense_Mutation SNP C C A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 1 54417888 54417888 C A SNP LRRC42 ENST00000319223 human ensembl 69_37n +1 known missense c.216 p.F72L 1.000 NULL NULL - no_errors LRRC42 HGNC ENSG00000116212 73 0 0.00 55 14 20.29 - - - MACF1 0 genome.wustl.edu 37 1 39951484 39951484 + RNA SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 1 39951484 39951484 C A SNP MACF1 ENST00000496360 human ensembl 69_37n +1 known rna NULL NULL 0.354 - - - no_errors MACF1 HGNC ENSG00000127603 36 0 0.00 21 40 64.52 - - - MAGI3 0 genome.wustl.edu 37 1 114225905 114225905 + Missense_Mutation SNP A A C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 1 114225905 114225905 A C SNP MAGI3 ENST00000307546 human ensembl 69_37n +1 novel missense c.3715 p.I1239L 0.002 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC ENSG00000081026 93 0 0.00 50 28 35.90 - - - MAGI3 0 genome.wustl.edu 37 1 114225905 114225905 + Missense_Mutation SNP A A C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 1 114225905 114225905 A C SNP MAGI3 ENST00000307546 human ensembl 69_37n +1 novel missense c.3715 p.I1239L 0.002 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC ENSG00000081026 82 0 0.00 50 28 35.90 - - - MAGI3 0 genome.wustl.edu 37 1 114225905 114225905 + Missense_Mutation SNP A A C TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 1 114225905 114225905 A C SNP MAGI3 ENST00000307546 human ensembl 69_37n +1 novel missense c.3715 p.I1239L 0.002 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC ENSG00000081026 18 0 0.00 11 11 50.00 - - - MASP1 0 genome.wustl.edu 37 3 186978538 186978538 + Missense_Mutation SNP T T G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 3 186978538 186978538 T G SNP MASP1 ENST00000296280 human ensembl 69_37n -1 known missense c.538 p.T180P 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6 - no_errors MASP1 HGNC ENSG00000127241 158 1 0.63 149 51 25.12 - - - MBTPS2 0 genome.wustl.edu 37 X 21861328 21861328 + Missense_Mutation SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 21861328 21861328 A G SNP MBTPS2 ENST00000379484 human ensembl 69_37n +1 known missense c.116 p.E39G 0.874 NULL pfam_Peptidase_M50,superfamily_PDZ,prints_Pept_M50_SREBP - no_errors MBTPS2 HGNC ENSG00000012174 217 1 0.46 179 35 16.36 - - - MECOM 0 genome.wustl.edu 37 3 168849290 168849290 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 3 168849290 168849290 C T SNP MECOM ENST00000494292 human ensembl 69_37n -1 known silent c.540 p.A180 0.075 smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 91 0 0.00 138 42 23.33 - - - MECOM 0 genome.wustl.edu 37 3 168849290 168849290 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 3 168849290 168849290 C T SNP MECOM ENST00000494292 human ensembl 69_37n -1 known silent c.540 p.A180 0.075 smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 94 0 0.00 138 42 23.33 - - - MECOM 0 genome.wustl.edu 37 3 168849290 168849290 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 3 168849290 168849290 C T SNP MECOM ENST00000494292 human ensembl 69_37n -1 known silent c.540 p.A180 0.075 smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 58 0 0.00 29 12 29.27 - - - MED14 0 genome.wustl.edu 37 X 40573117 40573117 + Missense_Mutation SNP G G T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 40573117 40573117 G T SNP MED14 ENST00000324817 human ensembl 69_37n -1 known missense c.565 p.Q189K 1.000 pfam_Mediator_Med14 pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 465 0 0.00 269 50 15.67 - - - MFSD6 0 genome.wustl.edu 37 2 191334519 191334519 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 2 191334519 191334519 G C SNP MFSD6 ENST00000281416 human ensembl 69_37n +1 known missense c.1568 p.R523P 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 132 1 0.75 98 38 27.94 - - - MRPL22 0 genome.wustl.edu 37 5 154330367 154330367 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 5 154330367 154330367 C T SNP MRPL22 ENST00000522038 human ensembl 69_37n +1 novel missense c.82 p.L28F 0.007 NULL pfam_Ribosomal_L22,superfamily_Ribosomal_L22 - no_errors MRPL22 HGNC ENSG00000082515 301 0 0.00 279 46 14.15 - - - N4BP2 0 genome.wustl.edu 37 4 40123795 40123795 + Missense_Mutation SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 4 40123795 40123795 A G SNP N4BP2 ENST00000261435 human ensembl 69_37n +1 known missense c.4064 p.E1355G 0.999 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 151 1 0.66 110 39 26.17 - - - NACAD 0 genome.wustl.edu 37 7 45120315 45120315 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 7 45120315 45120315 G A SNP NACAD ENST00000490531 human ensembl 69_37n -1 known missense c.4598 p.A1533V 0.997 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 65 0 0.00 169 65 27.43 - - - NACAD 0 genome.wustl.edu 37 7 45120315 45120315 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 7 45120315 45120315 G A SNP NACAD ENST00000490531 human ensembl 69_37n -1 known missense c.4598 p.A1533V 0.997 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 43 0 0.00 169 65 27.43 - - - NACAD 0 genome.wustl.edu 37 7 45120315 45120315 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 7 45120315 45120315 G A SNP NACAD ENST00000490531 human ensembl 69_37n -1 known missense c.4598 p.A1533V 0.997 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 19 0 0.00 13 5 27.78 - - - NLGN1 0 genome.wustl.edu 37 3 173322839 173322839 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 3 173322839 173322839 G A SNP NLGN1 ENST00000401917 human ensembl 69_37n +1 known missense c.451 p.E151K 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 111 1 0.89 145 62 29.95 - - - NLGN1 0 genome.wustl.edu 37 3 173322839 173322839 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 3 173322839 173322839 G A SNP NLGN1 ENST00000401917 human ensembl 69_37n +1 known missense c.451 p.E151K 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 156 0 0.00 145 62 29.95 - - - NPAS3 0 genome.wustl.edu 37 14 33836427 33836427 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 14 33836427 33836427 C T SNP NPAS3 ENST00000356141 human ensembl 69_37n +1 known silent c.421 p.L141 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NPAS3 HGNC ENSG00000151322 140 0 0.00 63 53 45.30 - - - OR4C5 0 genome.wustl.edu 37 11 48387506 48387506 + Missense_Mutation SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 11 48387506 48387506 A G SNP OR4C5 ENST00000319813 human ensembl 69_37n -1 known missense c.512 p.V171A 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 OR4C5 HGNC ENSG00000176540 13 0 0.00 40 17 28.81 - - - OTC 0 genome.wustl.edu 37 X 38260563 38260563 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 38260563 38260563 G C SNP OTC ENST00000039007 human ensembl 69_37n +1 known missense c.422 p.R141P 1.000 pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Orn/put_carbamltrans pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf_euk,tigrfam_Orn/put_carbamltrans - no_errors OTC HGNC ENSG00000036473 231 2 0.86 72 66 47.48 - - - OTOF 0 genome.wustl.edu 37 2 26687737 26687737 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 2 26687737 26687737 C T SNP OTOF ENST00000272371 human ensembl 69_37n -1 known missense c.4960 p.G1654S 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 35 0 0.00 77 23 23.00 - - - OTOF 0 genome.wustl.edu 37 2 26687737 26687737 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 2 26687737 26687737 C T SNP OTOF ENST00000272371 human ensembl 69_37n -1 known missense c.4960 p.G1654S 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 38 0 0.00 77 23 23.00 - - - OTOF 0 genome.wustl.edu 37 2 26687737 26687737 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 2 26687737 26687737 C T SNP OTOF ENST00000272371 human ensembl 69_37n -1 known missense c.4960 p.G1654S 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 130 0 0.00 172 32 15.69 - - - PAGE4 0 genome.wustl.edu 37 X 49598456 49598456 + Silent SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 49598456 49598456 G C SNP PAGE4 ENST00000218068 human ensembl 69_37n +1 known silent c.300 p.G100 0.008 pfam_GAGE pfam_GAGE - no_errors PAGE4 HGNC ENSG00000101951 178 0 0.00 109 37 25.34 - - - PAGE4 0 genome.wustl.edu 37 X 49598456 49598456 + Silent SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 X 49598456 49598456 G C SNP PAGE4 ENST00000218068 human ensembl 69_37n +1 known silent c.300 p.G100 0.008 pfam_GAGE pfam_GAGE - no_errors PAGE4 HGNC ENSG00000101951 192 1 0.52 109 37 25.34 - - - PALLD 0 genome.wustl.edu 37 4 169589473 169589473 + Silent SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 4 169589473 169589473 G A SNP PALLD ENST00000261509 human ensembl 69_37n +1 known silent c.1041 p.T347 0.289 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PALLD HGNC ENSG00000129116 86 0 0.00 181 78 30.00 - - - PALLD 0 genome.wustl.edu 37 4 169589473 169589473 + Silent SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 4 169589473 169589473 G A SNP PALLD ENST00000261509 human ensembl 69_37n +1 known silent c.1041 p.T347 0.289 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PALLD HGNC ENSG00000129116 71 0 0.00 38 17 30.91 - - - PAPPA2 0 genome.wustl.edu 37 1 176709226 176709226 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 1 176709226 176709226 C T SNP PAPPA2 ENST00000367662 human ensembl 69_37n +1 known missense c.4045 p.R1349W 0.000 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 282 1 0.35 530 315 37.28 - - - PAPPA2 0 genome.wustl.edu 37 1 176709226 176709226 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 1 176709226 176709226 C T SNP PAPPA2 ENST00000367662 human ensembl 69_37n +1 known missense c.4045 p.R1349W 0.000 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 215 0 0.00 530 315 37.28 - - - PAPPA2 0 genome.wustl.edu 37 1 176709226 176709226 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 1 176709226 176709226 C T SNP PAPPA2 ENST00000367662 human ensembl 69_37n +1 known missense c.4045 p.R1349W 0.000 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 58 0 0.00 64 35 35.35 - - - PARVG 0 genome.wustl.edu 37 22 44585003 44585003 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 22 44585003 44585003 C G SNP PARVG ENST00000415224 human ensembl 69_37n +1 known missense c.257 p.A86G 0.189 pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVG HGNC ENSG00000138964 56 0 0.00 50 71 58.20 - - - PDS5B 0 genome.wustl.edu 37 13 33284147 33284147 + Missense_Mutation SNP G G T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 13 33284147 33284147 G T SNP PDS5B ENST00000315596 human ensembl 69_37n +1 known missense c.2027 p.C676F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 109 0 0.00 47 65 58.04 - - - PDZD2 0 genome.wustl.edu 37 5 31983478 31983478 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 5 31983478 31983478 G A SNP PDZD2 ENST00000282493 human ensembl 69_37n +1 known missense c.694 p.E232K 0.272 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 56 0 0.00 159 25 13.59 - - - PDZD2 0 genome.wustl.edu 37 5 31983478 31983478 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 5 31983478 31983478 G A SNP PDZD2 ENST00000282493 human ensembl 69_37n +1 known missense c.694 p.E232K 0.272 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 51 0 0.00 159 25 13.59 - - - PIEZO1 0 genome.wustl.edu 37 16 88787087 88787087 + Missense_Mutation SNP G G T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 16 88787087 88787087 G T SNP PIEZO1 ENST00000301015 human ensembl 69_37n -1 novel missense c.5738 p.P1913Q 0.000 NULL pfam_DUF3595 - no_errors PIEZO1 HGNC ENSG00000103335 197 1 0.51 171 60 25.75 - - - PITX1 0 genome.wustl.edu 37 5 134367104 134367106 + In_Frame_Del DEL CTT CTT - TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 5 134367104 134367106 CTT - DEL PITX1 ENST00000265340 human ensembl 69_37n -1 known in_frame_del c.264_262 p.K88in_frame_del 1.000:1.000:1.000 superfamily_Homeodomain-like,pirsf_Homeobox_Pitx/unc30,pfscan_Homeodomain pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX1 HGNC ENSG00000069011 60 0 0.00 90 16 15.09 - - - PITX1 0 genome.wustl.edu 37 5 134367104 134367106 + In_Frame_Del DEL CTT CTT - TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 5 134367104 134367106 CTT - DEL PITX1 ENST00000265340 human ensembl 69_37n -1 known in_frame_del c.264_262 p.K88in_frame_del 1.000:1.000:1.000 superfamily_Homeodomain-like,pirsf_Homeobox_Pitx/unc30,pfscan_Homeodomain pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX1 HGNC ENSG00000069011 164 0 0.00 71 27 27.27 - - - PLA2G4C 0 genome.wustl.edu 37 19 48578070 48578070 + Silent SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 19 48578070 48578070 G A SNP PLA2G4C ENST00000413144 human ensembl 69_37n -1 known silent c.960 p.T320 0.000 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4C HGNC ENSG00000105499 153 1 0.65 46 193 80.75 - - - PLA2G4C 0 genome.wustl.edu 37 19 48578070 48578070 + Silent SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 19 48578070 48578070 G A SNP PLA2G4C ENST00000413144 human ensembl 69_37n -1 known silent c.960 p.T320 0.000 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4C HGNC ENSG00000105499 151 0 0.00 46 193 80.75 - - - PLA2G4C 0 genome.wustl.edu 37 19 48578070 48578070 + Silent SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 19 48578070 48578070 G A SNP PLA2G4C ENST00000413144 human ensembl 69_37n -1 known silent c.960 p.T320 0.000 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4C HGNC ENSG00000105499 84 0 0.00 7 50 87.72 - - - PLEKHG2 0 genome.wustl.edu 37 19 39915205 39915205 + Missense_Mutation SNP A A T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 19 39915205 39915205 A T SNP PLEKHG2 ENST00000205135 human ensembl 69_37n +1 putative missense c.3035 p.H1012L 0.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PLEKHG2 HGNC ENSG00000090924 70 0 0.00 905 392 28.36 - - - PLEKHG2 0 genome.wustl.edu 37 19 39915205 39915205 + Missense_Mutation SNP A A T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 19 39915205 39915205 A T SNP PLEKHG2 ENST00000205135 human ensembl 69_37n +1 putative missense c.3035 p.H1012L 0.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PLEKHG2 HGNC ENSG00000090924 89 0 0.00 383 162 29.51 - - - PLEKHG4B 0 genome.wustl.edu 37 5 171449 171449 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 5 171449 171449 C G SNP PLEKHG4B ENST00000283426 human ensembl 69_37n +1 known missense c.2872 p.L958V 0.001 superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 32 0 0.00 40 13 24.53 - - - PLXNA2 0 genome.wustl.edu 37 1 208207852 208207852 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 1 208207852 208207852 G A SNP PLXNA2 ENST00000367033 human ensembl 69_37n -1 known missense c.4850 p.S1617F 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,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 PLXNA2 HGNC ENSG00000076356 210 1 0.47 369 84 18.50 - - - PLXNA2 0 genome.wustl.edu 37 1 208207852 208207852 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 1 208207852 208207852 G A SNP PLXNA2 ENST00000367033 human ensembl 69_37n -1 known missense c.4850 p.S1617F 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,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 PLXNA2 HGNC ENSG00000076356 144 0 0.00 369 84 18.50 - - - PLXNA2 0 genome.wustl.edu 37 1 208207852 208207852 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 1 208207852 208207852 G A SNP PLXNA2 ENST00000367033 human ensembl 69_37n -1 known missense c.4850 p.S1617F 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,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 PLXNA2 HGNC ENSG00000076356 70 0 0.00 92 18 16.36 - - - PRMT5 0 genome.wustl.edu 37 14 23398540 23398540 + Missense_Mutation SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 14 23398540 23398540 C A SNP PRMT5 ENST00000324366 human ensembl 69_37n -1 known missense c.31 p.G11W 1.000 pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 27 0 0.00 42 17 28.81 - - - PRMT5 0 genome.wustl.edu 37 14 23398540 23398540 + Missense_Mutation SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 14 23398540 23398540 C A SNP PRMT5 ENST00000324366 human ensembl 69_37n -1 known missense c.31 p.G11W 1.000 pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 23 0 0.00 42 17 28.81 - - - PRMT5 0 genome.wustl.edu 37 14 23398540 23398540 + Missense_Mutation SNP C C A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 14 23398540 23398540 C A SNP PRMT5 ENST00000324366 human ensembl 69_37n -1 known missense c.31 p.G11W 1.000 pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 104 0 0.00 43 34 44.16 - - - PROSER1 0 genome.wustl.edu 37 13 39587682 39587682 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 13 39587682 39587682 C T SNP PROSER1 ENST00000350125 human ensembl 69_37n -1 known silent c.1641 p.T547 0.000 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 105 0 0.00 85 60 41.38 - - - PROSER1 0 genome.wustl.edu 37 13 39587682 39587682 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 13 39587682 39587682 C T SNP PROSER1 ENST00000350125 human ensembl 69_37n -1 known silent c.1641 p.T547 0.000 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 47 0 0.00 25 9 26.47 - - - PSD3 0 genome.wustl.edu 37 8 18430065 18430065 + Silent SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 8 18430065 18430065 C G SNP PSD3 ENST00000440756 human ensembl 69_37n -1 known silent c.2763 p.L921 1.000 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors PSD3 HGNC ENSG00000156011 231 2 0.86 72 74 50.34 - - - PTPRQ 0 genome.wustl.edu 37 12 80899850 80899850 + Frame_Shift_Del DEL G G - TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 12 80899850 80899850 G - DEL PTPRQ ENST00000266688 human ensembl 69_37n +1 known frame_shift_del c.2308 p.G770fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 56 0 0.00 14 2 12.50 - - - PTPRU 0 genome.wustl.edu 37 1 29609420 29609420 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 1 29609420 29609420 G A SNP PTPRU ENST00000345512 human ensembl 69_37n +1 known missense c.2101 p.A701T 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRU HGNC ENSG00000060656 12 0 0.00 57 17 22.37 - - - PTPRU 0 genome.wustl.edu 37 1 29609420 29609420 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 1 29609420 29609420 G A SNP PTPRU ENST00000345512 human ensembl 69_37n +1 known missense c.2101 p.A701T 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRU HGNC ENSG00000060656 58 0 0.00 45 16 25.81 - - - PXT1 0 genome.wustl.edu 37 6 36393724 36393724 + Missense_Mutation SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 6 36393724 36393724 A G SNP PXT1 ENST00000454782 human ensembl 69_37n -1 putative missense c.136 p.S46P 0.003 NULL NULL - no_errors PXT1 HGNC ENSG00000179165 243 1 0.41 219 178 44.72 - - - R3HCC1 0 genome.wustl.edu 37 8 23147408 23147408 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 8 23147408 23147408 C G SNP R3HCC1 ENST00000411463 human ensembl 69_37n +1 known missense c.398 p.P133R 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HCC1 HGNC ENSG00000104679 99 0 0.00 31 10 24.39 - - - RAPGEF2 0 genome.wustl.edu 37 4 160162389 160162389 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 4 160162389 160162389 C T SNP RAPGEF2 ENST00000505478 human ensembl 69_37n +1 putative missense c.379 p.R127W 1.000 superfamily_cNMP-bd-like superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region RAPGEF2 HGNC ENSG00000109756 73 0 0.00 23 23 50.00 - - - RBMXL1 0 genome.wustl.edu 37 1 89448782 89448782 + Missense_Mutation SNP T T G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 1 89448782 89448782 T G SNP RBMXL1 ENST00000321792 human ensembl 69_37n -1 known missense c.728 p.Y243S 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 387 1 0.26 349 211 37.68 - - - RBMXL1 0 genome.wustl.edu 37 1 89448782 89448782 + Missense_Mutation SNP T T G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 1 89448782 89448782 T G SNP RBMXL1 ENST00000321792 human ensembl 69_37n -1 known missense c.728 p.Y243S 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 369 0 0.00 349 211 37.68 - - - RBMXL1 0 genome.wustl.edu 37 1 89448782 89448782 + Missense_Mutation SNP T T G TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 1 89448782 89448782 T G SNP RBMXL1 ENST00000321792 human ensembl 69_37n -1 known missense c.728 p.Y243S 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 142 1 0.70 68 36 34.29 - - - REV1 0 genome.wustl.edu 37 2 100050895 100050895 + Missense_Mutation SNP A A C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 2 100050895 100050895 A C SNP REV1 ENST00000258428 human ensembl 69_37n -1 known missense c.1337 p.V446G 1.000 pfam_DNA_repair_prot_UmuC-like,pirsf_REV1,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 111 1 0.89 100 66 39.76 - - - RFX3 0 genome.wustl.edu 37 9 3346746 3346747 + Frame_Shift_Ins INS - - A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 9 3346746 3346747 - A INS RFX3 ENST00000382004 human ensembl 69_37n -1 known frame_shift_ins c.136_135 p.V45fs 1.000:1.000 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 117 0 0.00 317 37 10.45 - - - RFX3 0 genome.wustl.edu 37 9 3346746 3346747 + Frame_Shift_Ins INS - - A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 9 3346746 3346747 - A INS RFX3 ENST00000382004 human ensembl 69_37n -1 known frame_shift_ins c.136_135 p.V45fs 1.000:1.000 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 138 0 0.00 317 37 10.45 - - - RGPD2 0 genome.wustl.edu 37 2 88071774 88071774 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 2 88071774 88071774 C T SNP RGPD2 ENST00000398146 human ensembl 69_37n -1 known missense c.5150 p.S1717N 1.000 pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD2 HGNC ENSG00000185304 19 0 0.00 63 34 35.05 - - - RGPD2 0 genome.wustl.edu 37 2 88071774 88071774 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 2 88071774 88071774 C T SNP RGPD2 ENST00000398146 human ensembl 69_37n -1 known missense c.5150 p.S1717N 1.000 pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD2 HGNC ENSG00000185304 28 0 0.00 63 34 35.05 - - - RGPD2 0 genome.wustl.edu 37 2 88071774 88071774 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 2 88071774 88071774 C T SNP RGPD2 ENST00000398146 human ensembl 69_37n -1 known missense c.5150 p.S1717N 1.000 pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD2 HGNC ENSG00000185304 29 0 0.00 13 16 55.17 - - - RGPD3 0 genome.wustl.edu 37 2 107040572 107040572 + Missense_Mutation SNP T T C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 2 107040572 107040572 T C SNP RGPD3 ENST00000304514 human ensembl 69_37n -1 known missense c.3851 p.H1284R 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 252 0 0.00 45 13 22.41 - - - RLF 0 genome.wustl.edu 37 1 40661414 40661414 + Missense_Mutation SNP A A C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 1 40661414 40661414 A C SNP RLF ENST00000372771 human ensembl 69_37n +1 known missense c.585 p.Q195H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 139 1 0.71 97 99 50.25 - - - RNF14 0 genome.wustl.edu 37 5 141363073 141363073 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 5 141363073 141363073 G A SNP RNF14 ENST00000347642 human ensembl 69_37n +1 known missense c.1192 p.E398K 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF14 HGNC ENSG00000013561 177 0 0.00 86 55 39.01 - - - RNF182 0 genome.wustl.edu 37 6 13977596 13977596 + Silent SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 6 13977596 13977596 C G SNP RNF182 ENST00000488300 human ensembl 69_37n +1 known silent c.246 p.P82 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF182 HGNC ENSG00000180537 112 0 0.00 155 48 23.65 - - - RNF182 0 genome.wustl.edu 37 6 13977596 13977596 + Silent SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 6 13977596 13977596 C G SNP RNF182 ENST00000488300 human ensembl 69_37n +1 known silent c.246 p.P82 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF182 HGNC ENSG00000180537 71 0 0.00 155 48 23.65 - - - RNF182 0 genome.wustl.edu 37 6 13977596 13977596 + Silent SNP C C G TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 6 13977596 13977596 C G SNP RNF182 ENST00000488300 human ensembl 69_37n +1 known silent c.246 p.P82 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF182 HGNC ENSG00000180537 34 0 0.00 33 10 23.26 - - - ROR2 0 genome.wustl.edu 37 9 94485838 94485838 + RNA SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 9 94485838 94485838 G A SNP ROR2 ENST00000550066 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ROR2 HGNC ENSG00000169071 69 0 0.00 36 22 37.93 - - - RPH3A 0 genome.wustl.edu 37 12 113321203 113321203 + Missense_Mutation SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 12 113321203 113321203 C A SNP RPH3A ENST00000389385 human ensembl 69_37n +1 known missense c.1432 p.L478I 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RPH3A HGNC ENSG00000089169 61 0 0.00 20 69 77.53 - - - RPH3A 0 genome.wustl.edu 37 12 113321203 113321203 + Missense_Mutation SNP C C A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 12 113321203 113321203 C A SNP RPH3A ENST00000389385 human ensembl 69_37n +1 known missense c.1432 p.L478I 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RPH3A HGNC ENSG00000089169 34 0 0.00 1 12 92.31 - - - RPLP0 0 genome.wustl.edu 37 12 120634697 120634697 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 12 120634697 120634697 G C SNP RPLP0 ENST00000228306 human ensembl 69_37n -1 known missense c.833 p.A278G 1.000 pfam_Ribosomal_60S pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_60S - no_errors RPLP0 HGNC ENSG00000089157 39 0 0.00 12 45 78.95 - - - SCML1 0 genome.wustl.edu 37 X 17768050 17768050 + Missense_Mutation SNP G G T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 17768050 17768050 G T SNP SCML1 ENST00000380041 human ensembl 69_37n +1 known missense c.340 p.V114F 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SCML1 HGNC ENSG00000047634 55 0 0.00 17 28 62.22 - - - SLC10A1 0 genome.wustl.edu 37 14 70243092 70243092 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 14 70243092 70243092 C G SNP SLC10A1 ENST00000216540 human ensembl 69_37n -1 known missense c.957 p.M319I 0.998 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A1 HGNC ENSG00000100652 244 1 0.41 168 129 43.43 - - - SLC10A1 0 genome.wustl.edu 37 14 70243092 70243092 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 14 70243092 70243092 C G SNP SLC10A1 ENST00000216540 human ensembl 69_37n -1 known missense c.957 p.M319I 0.998 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A1 HGNC ENSG00000100652 204 0 0.00 168 129 43.43 - - - SLC10A1 0 genome.wustl.edu 37 14 70243092 70243092 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 14 70243092 70243092 C G SNP SLC10A1 ENST00000216540 human ensembl 69_37n -1 known missense c.957 p.M319I 0.998 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A1 HGNC ENSG00000100652 49 0 0.00 21 11 34.38 - - - SLC25A3P1 0 genome.wustl.edu 37 1 53904142 53904142 + RNA SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 1 53904142 53904142 G A SNP SLC25A3P1 ENST00000566100 human ensembl 69_37n -1 known rna NULL NULL 0.903 - - - no_errors SLC25A3P1 HGNC ENSG00000236253 40 0 0.00 8 23 74.19 - - - SLC6A14 0 genome.wustl.edu 37 X 115582656 115582656 + Missense_Mutation SNP G G T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 115582656 115582656 G T SNP SLC6A14 ENST00000371900 human ensembl 69_37n +1 known missense c.980 p.W327L 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 296 0 0.00 168 40 19.23 - - - SLC6A14 0 genome.wustl.edu 37 X 115582656 115582656 + Missense_Mutation SNP G G T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 X 115582656 115582656 G T SNP SLC6A14 ENST00000371900 human ensembl 69_37n +1 known missense c.980 p.W327L 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 307 0 0.00 168 40 19.23 - - - SOHLH2 0 genome.wustl.edu 37 13 36748877 36748877 + Silent SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 13 36748877 36748877 A G SNP SOHLH2 ENST00000554962 human ensembl 69_37n -1 known silent c.1002 p.S334 0.996 superfamily_HLH_DNA-bd,smart_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors SOHLH2 HGNC ENSG00000120669 105 0 0.00 63 54 46.15 - - - SPTAN1 0 genome.wustl.edu 37 9 131346108 131346108 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 9 131346108 131346108 C T SNP SPTAN1 ENST00000358161 human ensembl 69_37n +1 known missense c.2053 p.R685C 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 161 0 0.00 107 75 41.21 - - - SPTAN1 0 genome.wustl.edu 37 9 131346108 131346108 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 9 131346108 131346108 C T SNP SPTAN1 ENST00000358161 human ensembl 69_37n +1 known missense c.2053 p.R685C 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 151 0 0.00 107 75 41.21 - - - SPTAN1 0 genome.wustl.edu 37 9 131346108 131346108 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 9 131346108 131346108 C T SNP SPTAN1 ENST00000358161 human ensembl 69_37n +1 known missense c.2053 p.R685C 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 40 0 0.00 9 9 50.00 - - - ST3GAL4 0 genome.wustl.edu 37 11 126279272 126279272 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 11 126279272 126279272 G C SNP ST3GAL4 ENST00000356132 human ensembl 69_37n +1 known missense c.755 p.S252T 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL4 HGNC ENSG00000110080 106 0 0.00 53 72 57.60 - - - TAB3 0 genome.wustl.edu 37 X 30872292 30872292 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 X 30872292 30872292 C T SNP TAB3 ENST00000288422 human ensembl 69_37n -1 known missense c.1490 p.G497E 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 85 0 0.00 67 14 17.07 - - - TAB3 0 genome.wustl.edu 37 X 30872751 30872751 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 30872751 30872751 C T SNP TAB3 ENST00000288422 human ensembl 69_37n -1 known missense c.1031 p.G344E 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 364 1 0.27 204 32 13.56 - - - TBC1D25 0 genome.wustl.edu 37 X 48419032 48419032 + Missense_Mutation SNP T T G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 48419032 48419032 T G SNP TBC1D25 ENST00000376771 human ensembl 69_37n +1 known missense c.1736 p.V579G 0.007 superfamily_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 TBC1D25 HGNC ENSG00000068354 99 0 0.00 56 27 32.14 - - - TBC1D29 0 genome.wustl.edu 37 17 28890301 28890301 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 17 28890301 28890301 G A SNP TBC1D29 ENST00000579181 human ensembl 69_37n +1 known missense c.311 p.S104N 0.904 NULL superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 48 0 0.00 159 22 12.15 - - - TBC1D29 0 genome.wustl.edu 37 17 28890301 28890301 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 17 28890301 28890301 G A SNP TBC1D29 ENST00000579181 human ensembl 69_37n +1 known missense c.311 p.S104N 0.904 NULL superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 41 0 0.00 159 22 12.15 - - - TBC1D3P2 0 genome.wustl.edu 37 17 60344108 60344108 + RNA SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 17 60344108 60344108 G A SNP TBC1D3P2 ENST00000339120 human ensembl 69_37n -1 known rna NULL NULL 0.895 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 15 0 0.00 11 6 35.29 - - - TCTN1 0 genome.wustl.edu 37 12 111085646 111085646 + Missense_Mutation SNP A A C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 12 111085646 111085646 A C SNP TCTN1 ENST00000481093 human ensembl 69_37n +1 putative missense c.167 p.H56P 0.226 NULL NULL - no_stop_codon TCTN1 HGNC ENSG00000204852 113 1 0.87 92 34 26.77 - - - TG 0 genome.wustl.edu 37 8 133935699 133935699 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 8 133935699 133935699 C T SNP TG ENST00000220616 human ensembl 69_37n +1 known missense c.4645 p.R1549W 0.074 superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 65 0 0.00 229 59 20.21 - - - TG 0 genome.wustl.edu 37 8 133935699 133935699 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 8 133935699 133935699 C T SNP TG ENST00000220616 human ensembl 69_37n +1 known missense c.4645 p.R1549W 0.074 superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 73 0 0.00 78 9 10.34 - - - TLR8 0 genome.wustl.edu 37 X 12937861 12937862 + Frame_Shift_Ins INS - - A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc X 12937861 12937862 - A INS TLR8 ENST00000218032 human ensembl 69_37n +1 known frame_shift_ins c.702_703 p.Y235fs 0.115:0.064 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 50 0 0.00 13 2 13.33 - - - TMEM144 0 genome.wustl.edu 37 4 159158784 159158784 + Missense_Mutation SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 4 159158784 159158784 C A SNP TMEM144 ENST00000296529 human ensembl 69_37n +1 known missense c.671 p.A224E 1.000 pfam_DUF1632_TMEM144 pfam_DUF1632_TMEM144,pfam_Sugar_transport - no_errors TMEM144 HGNC ENSG00000164124 196 1 0.51 153 138 47.26 - - - TMEM161B 0 genome.wustl.edu 37 5 87516500 87516500 + Missense_Mutation SNP T T C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 5 87516500 87516500 T C SNP TMEM161B ENST00000296595 human ensembl 69_37n -1 known missense c.326 p.D109G 1.000 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161B HGNC ENSG00000164180 67 0 0.00 18 52 74.29 - - - TMLHE 0 genome.wustl.edu 37 X 154743884 154743884 + Missense_Mutation SNP A A C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 154743884 154743884 A C SNP TMLHE ENST00000334398 human ensembl 69_37n -1 known missense c.401 p.V134G 1.000 tigrfam_Trimethyllysine_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase - no_errors TMLHE HGNC ENSG00000185973 160 0 0.00 106 54 33.75 - - - TNN 0 genome.wustl.edu 37 1 175067673 175067673 + Missense_Mutation SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 1 175067673 175067673 C A SNP TNN ENST00000239462 human ensembl 69_37n +1 known missense c.2061 p.H687Q 0.088 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_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_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 87 0 0.00 107 132 55.23 - - - TNN 0 genome.wustl.edu 37 1 175067673 175067673 + Missense_Mutation SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 1 175067673 175067673 C A SNP TNN ENST00000239462 human ensembl 69_37n +1 known missense c.2061 p.H687Q 0.088 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_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_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 68 0 0.00 107 132 55.23 - - - TNN 0 genome.wustl.edu 37 1 175067673 175067673 + Missense_Mutation SNP C C A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 1 175067673 175067673 C A SNP TNN ENST00000239462 human ensembl 69_37n +1 known missense c.2061 p.H687Q 0.088 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_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_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 107 0 0.00 59 62 51.24 - - - TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 64 0 0.00 111 50 30.67 - - - TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 51 0 0.00 111 50 30.67 - - - TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 36 0 0.00 32 10 23.81 - - - TSG101 0 genome.wustl.edu 37 11 18524118 18524118 + Nonsense_Mutation SNP G G T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 11 18524118 18524118 G T SNP TSG101 ENST00000251968 human ensembl 69_37n -1 known nonsense c.555 p.Y185* 1.000 NULL pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD - no_errors TSG101 HGNC ENSG00000074319 118 1 0.84 138 19 12.03 - - - TSG101 0 genome.wustl.edu 37 11 18524118 18524118 + Nonsense_Mutation SNP G G T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 11 18524118 18524118 G T SNP TSG101 ENST00000251968 human ensembl 69_37n -1 known nonsense c.555 p.Y185* 1.000 NULL pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD - no_errors TSG101 HGNC ENSG00000074319 121 0 0.00 138 19 12.03 - - - TTBK2 0 genome.wustl.edu 37 15 43132600 43132600 + Missense_Mutation SNP A A C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 15 43132600 43132600 A C SNP TTBK2 ENST00000267890 human ensembl 69_37n -1 known missense c.249 p.C83W 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK2 HGNC ENSG00000128881 120 0 0.00 81 37 31.09 - - - TTBK2 0 genome.wustl.edu 37 15 43132600 43132600 + Missense_Mutation SNP A A C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 15 43132600 43132600 A C SNP TTBK2 ENST00000267890 human ensembl 69_37n -1 known missense c.249 p.C83W 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK2 HGNC ENSG00000128881 97 0 0.00 81 37 31.09 - - - UACA 0 genome.wustl.edu 37 15 70949398 70949398 + Silent SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 15 70949398 70949398 G A SNP UACA ENST00000322954 human ensembl 69_37n -1 known silent c.4248 p.C1416 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 73 0 0.00 20 60 75.00 - - - UNC13A 0 genome.wustl.edu 37 19 17731515 17731515 + Missense_Mutation SNP G G T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 19 17731515 17731515 G T SNP UNC13A ENST00000428389 human ensembl 69_37n -1 known missense c.4523 p.P1508Q 1.000 pfam_Munc13_subgr_dom-2 pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 123 1 0.81 89 99 52.38 - - - UNC13A 0 genome.wustl.edu 37 19 17731523 17731523 + Silent SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 19 17731523 17731523 C T SNP UNC13A ENST00000428389 human ensembl 69_37n -1 known silent c.4515 p.V1505 1.000 pfam_Munc13_subgr_dom-2 pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 114 0 0.00 81 22 21.15 - - - USO1 0 genome.wustl.edu 37 4 76725346 76725346 + Missense_Mutation SNP G G T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 4 76725346 76725346 G T SNP USO1 ENST00000538159 human ensembl 69_37n +1 known missense c.2073 p.Q691H 1.000 superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC ENSG00000138768 37 0 0.00 32 4 11.11 - - - USP12 0 genome.wustl.edu 37 13 27664021 27664021 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 13 27664021 27664021 G A SNP USP12 ENST00000282344 human ensembl 69_37n -1 known missense c.733 p.R245W 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP12 HGNC ENSG00000152484 143 0 0.00 117 61 34.27 - - - USP12 0 genome.wustl.edu 37 13 27664021 27664021 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 13 27664021 27664021 G A SNP USP12 ENST00000282344 human ensembl 69_37n -1 known missense c.733 p.R245W 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP12 HGNC ENSG00000152484 201 0 0.00 117 61 34.27 - - - USP12 0 genome.wustl.edu 37 13 27664021 27664021 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 13 27664021 27664021 G A SNP USP12 ENST00000282344 human ensembl 69_37n -1 known missense c.733 p.R245W 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP12 HGNC ENSG00000152484 29 0 0.00 15 3 16.67 - - - USP26 0 genome.wustl.edu 37 X 132162002 132162002 + Missense_Mutation SNP T T A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 132162002 132162002 T A SNP USP26 ENST00000370832 human ensembl 69_37n -1 known missense c.247 p.I83F 0.004 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC ENSG00000134588 185 0 0.00 91 70 43.48 - - - VWA8 0 genome.wustl.edu 37 13 42273293 42273293 + Missense_Mutation SNP T T G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 13 42273293 42273293 T G SNP VWA8 ENST00000379310 human ensembl 69_37n -1 known missense c.3478 p.T1160P 0.991 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 117 0 0.00 69 41 36.94 - - - VWA8 0 genome.wustl.edu 37 13 42273324 42273324 + Silent SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 13 42273324 42273324 G A SNP VWA8 ENST00000379310 human ensembl 69_37n -1 known silent c.3447 p.F1149 1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 110 1 0.90 100 30 23.08 - - - WASH6P 0 genome.wustl.edu 37 X 155253959 155253959 + RNA SNP C C T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc X 155253959 155253959 C T SNP WASH6P ENST00000461007 human ensembl 69_37n +1 known rna NULL NULL 0.028 - - - no_errors WASH6P HGNC ENSG00000182484 51 0 0.00 17 3 15.00 - - - WDR3 0 genome.wustl.edu 37 1 118502003 118502003 + Missense_Mutation SNP C C T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 1 118502003 118502003 C T SNP WDR3 ENST00000349139 human ensembl 69_37n +1 known missense c.2765 p.T922I 1.000 NULL pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 222 0 0.00 149 66 30.56 - - - WDR44 0 genome.wustl.edu 37 X 117526710 117526710 + Missense_Mutation SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 117526710 117526710 G A SNP WDR44 ENST00000254029 human ensembl 69_37n +1 known missense c.302 p.R101K 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 89 0 0.00 38 26 40.62 - - - WDR63 0 genome.wustl.edu 37 1 85583497 85583497 + Silent SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 1 85583497 85583497 C A SNP WDR63 ENST00000294664 human ensembl 69_37n +1 known silent c.1872 p.L624 0.802 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 115 0 0.00 72 37 33.94 - - - WDR63 0 genome.wustl.edu 37 1 85583497 85583497 + Silent SNP C C A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 1 85583497 85583497 C A SNP WDR63 ENST00000294664 human ensembl 69_37n +1 known silent c.1872 p.L624 0.802 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 136 1 0.73 72 37 33.94 - - - WHSC1 0 genome.wustl.edu 37 4 1957868 1957868 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 4 1957868 1957868 G C SNP WHSC1 ENST00000382891 human ensembl 69_37n +1 known missense c.2834 p.G945A 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily - no_errors WHSC1 HGNC ENSG00000109685 114 1 0.87 55 31 35.63 - - - XPO5 0 genome.wustl.edu 37 6 43516145 43516145 + Missense_Mutation SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 6 43516145 43516145 A G SNP XPO5 ENST00000265351 human ensembl 69_37n -1 known missense c.1913 p.L638P 0.924 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 119 0 0.00 108 121 52.38 - - - XPO5 0 genome.wustl.edu 37 6 43516145 43516145 + Missense_Mutation SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 6 43516145 43516145 A G SNP XPO5 ENST00000265351 human ensembl 69_37n -1 known missense c.1913 p.L638P 0.924 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 105 0 0.00 108 121 52.38 - - - XPO5 0 genome.wustl.edu 37 6 43516145 43516145 + Missense_Mutation SNP A A G TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 6 43516145 43516145 A G SNP XPO5 ENST00000265351 human ensembl 69_37n -1 known missense c.1913 p.L638P 0.924 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 105 0 0.00 51 53 50.96 - - - YIPF4 0 genome.wustl.edu 37 2 32515691 32515691 + Missense_Mutation SNP T T A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 2 32515691 32515691 T A SNP YIPF4 ENST00000238831 human ensembl 69_37n +1 known missense c.219 p.D73E 1.000 NULL pfam_Yip1 - no_errors YIPF4 HGNC ENSG00000119820 103 0 0.00 113 39 25.49 - - - ZDHHC11 0 genome.wustl.edu 37 5 833915 833915 + Missense_Mutation SNP G G T TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 5 833915 833915 G T SNP ZDHHC11 ENST00000283441 human ensembl 69_37n -1 known missense c.908 p.A303D 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ENSG00000188818 24 0 0.00 56 10 15.15 - - - ZNF385A 0 genome.wustl.edu 37 12 54778307 54778307 + Missense_Mutation SNP G G C TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 12 54778307 54778307 G C SNP ZNF385A ENST00000338010 human ensembl 69_37n -1 known missense c.52 p.P18A 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385A HGNC ENSG00000161642 124 1 0.80 77 22 22.22 - - - ZNF565 0 genome.wustl.edu 37 19 36674067 36674067 + Silent SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 19 36674067 36674067 A G SNP ZNF565 ENST00000304116 human ensembl 69_37n -1 known silent c.801 p.I267 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF565 HGNC ENSG00000196357 77 0 0.00 881 140 13.69 - - - ZNF565 0 genome.wustl.edu 37 19 36674067 36674067 + Silent SNP A A G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 19 36674067 36674067 A G SNP ZNF565 ENST00000304116 human ensembl 69_37n -1 known silent c.801 p.I267 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF565 HGNC ENSG00000196357 96 0 0.00 881 140 13.69 - - - ZNF565 0 genome.wustl.edu 37 19 36674067 36674067 + Silent SNP A A G TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc 19 36674067 36674067 A G SNP ZNF565 ENST00000304116 human ensembl 69_37n -1 known silent c.801 p.I267 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF565 HGNC ENSG00000196357 43 0 0.00 151 22 12.72 - - - ZNF711 0 genome.wustl.edu 37 X 84510277 84510277 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 84510277 84510277 C G SNP ZNF711 ENST00000395402 human ensembl 69_37n +1 known missense c.26 p.A9G 1.000 NULL pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 208 1 0.48 70 35 33.33 - - - ZNF711 0 genome.wustl.edu 37 X 84510277 84510277 + Missense_Mutation SNP C C G TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 7b565538-7488-4654-9034-8a0e6fe65bf1 X 84510277 84510277 C G SNP ZNF711 ENST00000395402 human ensembl 69_37n +1 known missense c.26 p.A9G 1.000 NULL pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 186 1 0.53 70 35 33.33 - - - ZNF711 0 genome.wustl.edu 37 X 84525889 84525890 + Frame_Shift_Ins INS - - T TCGA-A7-A13E-01A-11D-A272-09 TCGA-A7-A13E-10A-02D-A272-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6744be0d-06f5-48a8-b0b6-8cd72bba0aea 9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc X 84525889 84525890 - T INS ZNF711 ENST00000395402 human ensembl 69_37n +1 known frame_shift_ins c.1365_1366 p.T456fs 1.000:1.000 NULL pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 57 0 0.00 12 2 14.29 - - - ZNF81 0 genome.wustl.edu 37 X 47774984 47774984 + Silent SNP G G A TCGA-A7-A13E-01A-11D-A12Q-09 TCGA-A7-A13E-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2710231-62a5-483f-9154-8036ed0ccd6c 23fbfc21-e16b-457d-950c-ec7e2d0b73a6 X 47774984 47774984 G A SNP ZNF81 ENST00000338637 human ensembl 69_37n +1 known silent c.939 p.Q313 0.951 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 ZNF81 HGNC ENSG00000197779 43 0 0.00 20 18 47.37 - - -